Search Criteria: Research Area is "Developmental Biology Research"
New Strains Awaiting Transfer from the Donor
Additional Register Interest Strains
| Stock Number |
Strain Name Strain Description |
Standard Supply |
| 000664 | C57BL/6J | Level 1 |
| C57BL/6 is the most widely used inbred strain. It is commonly used as a general purpose strain and background strain for the generation of congenics carrying both spontaneous and induced mutations. Although this strain is refractory to many tumors, it is a permissive background for maximal expression of most mutations. C57BL/6J mice are used in a wide variety of research areas including cardiovascular biology, developmental biology, diabetes and obesity, genetics, immunology, neurobiology, and sensorineural research. C57BL/6J mice are also commonly used in the production of transgenic mice. Overall, C57BL/6 mice breed well, are long-lived, and have a low susceptibility to tumors. Primitive hematopoietic stem cells from C57BL/6J mice show greatly delayed senescence relative to BALB/c and DBA/2J. This is a dominant trait. Other characteristics include: 1) a high susceptibility to diet-induced obesity, type 2 diabetes, and atherosclerosis; 2) a high incidence of microphthalmia and other a ..... For more information please see the full phenotype on the strain data sheet | ||
| 001976 | NOD/ShiLtJ | Level 1 |
| Diabetes in NOD/ShiLtJ mice is characterized by insulitis, a leukocytic infiltrate of the pancreatic islets. Marked decreases in pancreatic insulin content occur in females at about 12 weeks of age and several weeks later in males. Onset of diabetes is marked by moderate glycosuria and by a non-fasting plasma glucose higher than 250 mg/dl. Diabetic mice are hypoinsulinemic and hyperglucagonemic, indicating a selective destruction of pancreatic islet beta cells. Susceptibility to IDDM in NOD/ShiLtJ mice is polygenic, and environment, including housing conditions, health status, and diet, exerts a strong effect on penetrance. NOD/ShiLtJ females are more widely used than males because the onset of IDDM symptoms occurs earlier and with a higher incidence (90-100% by 30 weeks of age). NOD/ShiLtJ males develop IDDM at a frequency of between 40-60% by 30-40 weeks of age. Male mice are useful for certain applications, including pharmaceutical studies, "accelerated transfer" of IDDM, and some <> ..... For more information please see the full phenotype on the strain data sheet | ||
| 000646 | A/J | Level 2 |
| Developed by LC Strong in 1921 from a cross between a Cold Spring Harbor albino and a Bagg albino, the A/J inbred strain is widely used in cancer and immunology research. It is highly susceptible to cortisone-induced congenital cleft palate. It has a high incidence of spontaneous lung adenomas, and lung tumors readily develop in response to carcinogens. A high percentage of mammary adenocarcinomas (a large proportion of acinar-type) develop in multiparous females. Rare spontaneous myoepitheliomas arising from myoepithelial cells of various exocrine glands have been observed in The Jackson Laboratory substrains. A/J mice fed an atherogenic diet (1.25% cholesterol, 0.5% cholic acid, and 15% fat) fail to develop atherosclerotic aortic lesions in contrast to several highly susceptible strains of mice (e.g. C57BL/6J, Stock No. 000664; C57L/J, Stock No. 000668, C57BR/cdJ, ..... | ||
| 000671 | DBA/2J | Level 2 |
| DBA/2J is a widely used inbred strain that is valuable in a large number of research areas, including cardiovascular biology, neurobiology, and sensorineural research. Its characteristics are often contrasted with those of the C57BL/6J inbred strain (Stock No. 000664). DBA/2J mice show a low susceptibility to developing atherosclerotic aortic lesions (20 to 350 um2 atherosclerotic aortic lesions /aortic cross-section) following 14 weeks on an atherogenic diet (1.25% cholesterol, 0.5% cholic acid and 15% fat). They also exhibit high-frequency hearing loss beginning roughly at the time of weaning/adolescence (between three to four weeks of age) and becoming severe by two to three months of age. The age related hearing loss 8 mutation arose spontaneously in DBA/2J between 1951 and 1975. This strain possesses three recessive alleles that cause progressive cochlear pathology initially affecting the organ of Corti. Decreasing anteroven ..... For more information please see the full phenotype on the strain data sheet | ||
| 000648 | AKR/J | Level 3 |
| Originally inbred at the Rockefeller Institute, AKR mice are widely used in cancer research for their high leukemia incidence (60-90%) and in immunology as a source of the Thy1.1 (theta AKR) antigen. AKR/J mice are viremic from birth, and express the ecotropic retrovirus AKV in all tissues. The hair interior defect (hid) mutation, a strain characteristic of AKR mice, causes alterations in hair development that is only evident microscopically. Adrenocortical lipid depletion (ald) in AKR mice is caused by a mutation in sterol O-acyltransferase 1 (Soat1), and leads to a truncated SOAT1 protein. AKR/J mice are relatively resistant to aortic lesion formation on a semi-synthetic high fat diet and are hyporesponsive to diets containing high levels of fat and cholesterol. | ||
| 000461 | B10.D2-Hc0 H2d H2-T18c/oSnJ | Level 3 |
| This congenic strain carries the H2d haplotype from DBA/2J following six generations of backcrossing to C57BL/10Sn. This strain still carries the Hc0 allele from DBA/2J, making them serum C5 deficient. Mice have increased susceptibility to certain pathogens and impaired chemotactic responses of neutrophils. Allograft rejection is prolonged. The following inbred strains are also homozygous for the Hc0 allele: A/HeJ (Stock No. 000645), AKR/J (Stock No. 000648), DBA/2J (Stock No. 000671), NOD/LtJ (Stock No. 001976), NZB/BlNJ (Stock No. 000684), and SWR/J (Stock No. 000689). | ||
| 004194 | B6.Cg-Tg(TcraTcrb)425Cbn/J | Level 4 |
| These transgenic mice express the mouse alpha-chain and beta-chain T cell receptor that pairs with the CD4 coreceptor and is specific for chicken ovalbumin 323-339 in the context of I-A b. Homozygous mice are viable and fertile. In these mice there is a four-fold increase in the CD4 to CD8 peripheral T cell ratio, and lymph node T cells demonstrate a dose-dependent proliferative response to the specific ovalbumin ligand. These transgenic mice are useful for studying in vivo T cell biology such as TCR-ligand interactions, T cell activation, thymic selection, cross-presentation of antigens, process of thymic selection and central and peripheral T cell tolerance and induction. | ||
| 002810 | B6CBA-Tg(HDexon1)62Gpb/1J | Level 4 |
| This line is transgenic for the 5' end of the human HD gene carrying approximately 160 +/- 10 repeat expansions. The transgene is ubiquitously expressed. Transgenic mice exhibit a progressive neurological phenotype that mimics many of the features of HD, including choreiform-like movements, involuntary stereotypic movements, tremor, and epileptic seizures, as well as nonmovement disorder components, including unusual vocalization. They urinate frequently and exhibit loss of body weight and muscle bulk through the course of the disease. Neurologically they develop Neuronal Intranuclear Inclusions (NII) which contain both the huntingtin and ubiquitin proteins. Previously unknown, these NII have subsequently been identified in human HD patients. The age of onset of HD symptoms is reported to occur between nine and 11 weeks. Commonly known as the "R6/2" strain.
Transgenic mice develop hyperglycemia by 12 weeks of age with a corresponding decrease in insulin levels. Pancreatic beta cell ..... | ||
| 006494 | B6CBA-Tg(HDexon1)62Gpb/3J | Level 4 |
| This line is transgenic for the 5' end of the human HD gene carrying approximately 120 +/- 5 (CAG)repeat expansions. The transgene is ubiquitously expressed. Transgenic mice exhibit a progressive neurological phenotype that mimics many of the features of HD, including choreiform-like movements, involuntary stereotypic movements, tremor, and epileptic seizures, as well as nonmovement disorder components, including unusual vocalization. They urinate frequently and exhibit loss of body weight and muscle bulk through the course of the disease. Neurologically they develop Neuronal Intranuclear Inclusions (NII) which contain both the huntingtin and ubiquitin proteins. Previously unknown, these NII have subsequently been identified in human HD patients. The age of onset of HD symptoms is reported to occur between 9 and 11 weeks. Commonly known as the "R6/2" strain. Transgenic mice develop hyperglycemia by 12 weeks of age with a corresponding decrease in insulin levels. Pancreatic beta cel ..... | ||
| 002282 | BTBR T+ tf/J | Level 4 |
| BTBR mice exhibit a 100% absence of the corpus callosum and a severly reduced hippocampal commissure (Wahlsten D, 2003 Brain Res). This strain exhibits several symptoms of autism including: reduced social interactions, impaired play, low exploratory behavior, unusual vocalizations and high anxiety as compared to other inbred strains (McFarlane HG, 2008, Gen, Brain Behav; Moy SS, 2007, Behav Br Res, Scattoni ML, 2008, PLos). | ||
| 000049 | C57BL/6J-KitW-v/J | Level 4 |
| Kit mice possess pleiotropic defects in pigment-forming cells, germ cells, RBC's and mast cells. In addition, they exhibit impaired resistance to parasitic infection and an intrinsic progenitor cell defect. KitW-v homozygotes resemble KitW homozygotes in color, anemia, and germ cells, but many of them survive to maturity. The lack of germ cells in mutant mice leads to the development of some ovarian tumors (mesotheliomas and granulosa cell), associated with an overproduction of pituitary gonadotropic hormone. | ||
| 005304 | C57BL/6NJ | Level 4 |
| This is an NIH subline of C57BL/6. It was separated from C57BL/6J in 1951. 5 SNP differences have been identified that distinguish C57BL/6J from C57BL/6ByJ and C57BL/6NJ. Both C57BL/6ByJ and C57BL/6NJ type as follows: 08-015199792-M (rs3709624) is C; 11-004367508-M (rs3659787) is A; 13-041017317-M (rs3722313) is C; 15-057561875-M (rs3702158) is G; 19-049914266-M (rs3724876) is T. C57BL/6J types as follows: 08-015199792-M is T; 11-004367508-M is G; 13-041017317-M is T; 15-057561875-M is A; 19-049914266-M is G (Petkov and Wiles 2005.) This strain does not have the deletion in the Nnt gene that has been found in the C57BL/6J strain (Stock No. 000664). | ||
| 004104 | FVB.Cg-Mmp9tm1Tvu/J | Level 4 |
| Mice that are homozygous null for the Mmp9 gene are viable and fertile. No Mmp9 activity is detected in spleen cell lysates. Long bones (tibia, femur) are 10% shorter in homozygous null mice. Histological examination of 3-week-old mice reveals a dramatically lengthened zone of hypertrophic cartilage (6 to 8 times larger vs. wildtype) due to delayed apoptosis, vascularization, and ossification. Subsequent remodeling resolves the condition, resulting in normal appearing bones by 8 weeks of age. Null mice show altered responses to repair of injury in skin, cornea, central nervous system and bone marrow reconstitution, and altered inflammatory responses. | ||
| 000676 | LP/J | Level 4 |
| LP/J mice display a high susceptibility to audiogenic seizures. This strain is also reported to have a fairly high incidence of tumors that develop later in life, including mammary tumors, lymphoma, lung and soft-tissue sarcomas. LP/J mice are also homozygous for the spontaneous mutation piebald in the endothelin receptor type B gene (Ednrbs). The piebald spontaneous mutation is the result of a mutation in the endothelin receptor type B gene, Ednrb. Mice show irregular white spotting, the amount of which is greatly influenced by minor modifying genes. They also have dark eyes. The white areas of the coat are completely lacking in neural crest-derived melanocytes, and there is a reduction in the number of melanocytes in the choroid layer of the eye is reduced. | ||
| 000684 | NZB/BlNJ | Level 4 |
| NZB/BlNJ mice display a number of autoimmune abnormalities including hemolytic anemia, elevated levels of immunoglobulin, anti-DNA antibodies, anti-thymocyte antibodies, and circulating immune complexes causing glomerulonephritis. F1 hybrids of NZB/BlNJ and NZW/LacJ (NZBWF1/J, Stock No. 100008) are widely used as a model for autoimmune disease resembling human systemic lupus erythematosus. NZB/BlNJ mice, fed an atherogenic diet (1.25% cholesterol, 0.5% cholic acid and 15% fat), fail to develop atherosclerotic aortic lesions in contrast to several highly susceptible strains of mice (e.g. C57BL/6J, Stock No. 000664; C57L/J, Stock No. 000668, C57BR/cdJ, Stock No. 000667, and SM/J, Stock No. 000687). | ||
| 000687 | SM/J | Level 4 |
| SM/J mice carry a number of rare polymorphic alleles and are often matched to LG/J (Stock No. 000675), A/J (Stock No. 000646) or NZB/BINJ (Stock No. 000684) for quantitative trait locus analysis. These mice are susceptible to diet-induced obesity and diet-induced atherosclerosis. SM/J mice exhibit a hyperresponsiveness to B cell mitogens (Clark et al. 1981, Engel et al. 1981). A point mutation in Neu1 is responsible for a partial deficiency of lysosomal neuraminadase and may explain the altered immune response (Rottier et al. 1998). Small in size at birth and through weaning, SM/J mice attain a normal body weight as they age. | ||
| 000689 | SWR/J | Level 4 |
| SWR/J mice are used widely in research as a general purpose strain. Aging mice exhibit a high incidence of lung and mammary gland tumors. They also develop extreme polydipsia and polyuria (nephrogenic diabetes insipidus) with increasing age. SWR/J mice are highly susceptible to experimental allergic encephalomyelitis (EAE). Germline deletion of about 50% of T-cell receptor V beta-chain gene segments and a T-cell receptor V alpha polymorphism are responsible for the resistance of SWR/J mice to collagen type II-induced arthritis. SWR/J mice show an intermediate susceptibility to developing atherosclerotic aortic lesions (1670 to 1690 um2 atherosclerotic aortic lesions/aortic cross-section) following 14 weeks on an atherogenic diet (1.25% cholesterol, 0.5% cholic acid and 15% fat). SWR/J mice have been recommended for generation and propogation of transgenic mice because they are high responders to exogenous hormones, have large and prominant pronuclei with good resistance to l ..... For more information please see the full phenotype on the strain data sheet | ||
| 000692 | WB/ReJ KitW/J | Level 4 |
| Kit mice possess pleiotropic defects in pigment-forming cells, germ cells, RBC's and mast cells. In addition, they exhibit impaired resistance to parasitic infection and an intrinsic progenitor cell defect. The lack of germ cells in homozygous mutant mice leads to the development of some ovarian tumors (mesotheliomas and granulosa cell), associated with an overproduction of pituitary gonadotropic hormone. | ||
| 100410 | WBB6F1/J-KitW/KitW-v | Level 4 |
| Kit mutant mice possess pleiotropic defects in pigment-forming cells, germ cells, RBC's and mast cells. In addition, they exhibit impaired resistance to parasitic infection and an intrinsic progenitor cell defect. KitW-v homozygotes resemble KitW homozygotes in color, anemia, and germ cells, but many of them survive to maturity. The lack of germ cells in mutant mice leads to the development of some ovarian tumors (mesotheliomas and granulosa cell), associated with an overproduction of pituitary gonadotropic hormone. KitW/KitW-v double heterozygotes are viable but sterile because of germ cell deficiency. They are also mast cell deficient. KitW/KitW-v double heterozygotes lack intermediate cells, derived from melanoblasts, in the stria vascularis resulting in endocochlear degeneration, loss of endocochlear potential, and hearing impairment. | ||
| 016927 | 129-Crmp1tm1Pako Dpysl4tm1Ttq/J | Repository- Live |
| In this strain an IRES-lacZ-neo cassette replaces part of exon 4 of the collapsin response mediator protein 1 (Crmp1) gene, and a second IRES-lacZ-neo cassette replaces exon 3 of the dihydropyrimidinase-like 4 (Dpysl4 or Crmp3) gene. Double homozygotes are viable and fertile. CRMP-1 and CRMP-3 are members of a family of phosphoproteins that are involved in dendritic length and branching, semaphorin signaling pathway, growth cone collapse, and neurite extension after binding with tubulin heterodimers. CRMP-1 is expressed during brain development in the cerebellum, olfactory bulb, hypothalamus, and retina, but is restricted mainly to the hippocampus and olfactory bulb in adults. CRMP-1 single knockout (KO) mice exhibit a decrease in granule cell proliferation, apoptosis, and migration. Also radial migration of cortical neurons is delayed. CRMP-3 is also expressed during brain development, but is restricted to the hippocampus, pontine nuclei, and olivary complex i ..... For more information please see the full phenotype on the strain data sheet | ||
| 012888 | 129-Wlstm1.1Lan/J | Repository- Live |
| These Wls floxed mutant mice possess loxP site before the ATG start site in the 5' untranslated region of exon 1 and another upstream of exon 2 of the wntless homolog (Drosophila) (Wls) gene. Mice that are homozygous for this allele are viable, fertile, and normal in size. When these mutant mice are bred to mice that express Cre recombinase, resulting offspring will have exon 1 deleted in cre-expressing tissues, abolishing gene function. When bred to a strain expressing Cre recombinase in the germline, homozygotes fail to develop mesoderm and are embryonic lethal by E8.5. When bred to a strain expressing Cre recombinase in pancreatic precursors, the mutant mice develop pancreatic hypoplasia. When bred to a strain expressing Cre recombinase in neural crest cells, the mutant mouse strain has severe brain malformations and exhibit postnatal lethality. This mutant mouse strain is useful to study Wnt signaling in any organ or tissue that can be targeted ..... For more information please see the full phenotype on the strain data sheet | ||
| 014134 | 129/Sv-MaoaK284stop Maobtm1Shih/J | Repository- Live |
| This strain carries two mutant alleles, a knockout of the X-linked monoamine oxidase B (Maob) gene and a spontaneous mutation designated MaoaK284stop in the monoamine oxidase A (Maoa) gene. The two mutations lie 24kb apart. MAO A/B deficient mice are viable, fertile, and normal in size. Maoa and Maob are mitochondrial enzymes which oxidize neurotransmitters and dietary amines. These mutants lack both MAOA and MAOB activity in the brain and liver resulting in increased levels of phenylethylamine, serotonin, dopamine, and norepinephrine. These mice exhibit increased reactivity to stress and increased aggression. These mice may be useful for studying MAOA and MAOB-related behaviors and disorders. | ||
| 014133 | 129/Sv-Maobtm1Shih/J | Repository- Live |
| In this strain, a neomycin resistance (neo) cassette replaces exon 6 of the endogenous X-linked monoamine oxidase B (Maob) gene, abolishing gene function. Maob deficient mice are viable, fertile, and normal in size. Maob is a mitochondrial enzyme which oxidizes neurotransmitters and dietary amines. These mutants lack MAOB activity in the brain and liver resulting in increased levels of phenylethylamine. These mice exhibit increased reactivity to stress and increased aggression. These mice also show decreased susceptibility to the neurodegenerative effects of MPTP (1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine), which induces Parkinson's disease-like symptoms when administered to mice. These mice may be useful for studying neurodegeneration and MAOB-related behaviors. | ||
| 016928 | 129;B6-Dpysl5tm1Gosh/J | Repository- Live |
| In this strain an IRES-lacZ-neo cassette replaces exons 2-6 of the dihydropyrimidinase-like 5 (Dpysl4 or Crmp5) gene. Homozygotes are viable and fertile. CRMP-5 is a member of a family of phosphoproteins that are involved in dendritic length and branching, semaphorin signaling pathway, growth cone collapse, and neurite extension after binding with tubulin heterodimers. It is expressed throughout the nervous system after P14 and is specifically involved in filopodia and growth cone morphology in neurons. These mice exhibit abnormally small Purkinje cells in the cerebellum during the period of dendritic branching. They also display long-term depression of excitatory synaptic transmissions. This strain may be useful for studying nervous system developmental disorders. | ||
| 014606 | 129S.129(B6)-Arl6tm1Vcs/J | Repository- Live |
| A targeted mutation in this strain alters the sequence of the splice acceptor and splice donor sites (AG -> AC and GT -> CT respectively) of exon 8 of the ADP-ribosylation factor-like 6 (Arl6 or Bbs3) gene. A neomycin resistance cassette was also inserted downstream of the modified exon 8. Homozygous mice are viable and fertile. Bbs3 is associated with human Bardet-Biedl syndrome, a pleiotropic disorder characterized by retinal and photoreceptor degeneration. The Bbs3 "long" isoform, Bbs3L, is evolutionally conserved across human and mouse and is expressed specifically in the ganglion cell layer, nerve fiber layer, and photoreceptor cells of mouse retinal tissue. Exon 8 is only present in Bbs3L and alteration of the spice sites results in loss of Bbs3L expression while still expressing Bbs3. These Bbs3L-/- mice exhibit disruption of normal photoreceptor architecture, specifically the inner segments of t ..... For more information please see the full phenotype on the strain data sheet | ||
| 016567 | 129S.Cg-Tg(Hoxb7-rtTA*M2)2Cos/J | Repository- Live |
| RS-HTA2 transgenic mice have the homeobox B7 promoter/enhancer sequences driving expression of an optimized form of the reverse tetracycline-controlled transactivator (rtTA*M2) protein. Hemizygotes are viable, fertile, and normal in size. When mated to a second transgenic strain carrying a gene of interest under the regulatory control of a tetracycline-responsive promoter element (tetO), expression of the gene of interest may be regulated by the tetracycline analog, doxycycline (dox). In the presence of dox, transcription of the target gene is induced in cells where rtTA is expressed. When bred to B6;SJL-Tg(tetop-lacZ)2Mam/J mice (Stock No. 002621), adult mice carrying both transgenes, which were maintained on Dox during pre and postnatal life, show strong expression of βgal in the renal collecting duct system, and embryos display strong expression throughout the Wolffian duct, ureteric bud, vas deferens, epididymis ..... For more information please see the full phenotype on the strain data sheet | ||
| 013562 | 129S1.B6-Pignm1Nisw/J | Repository- Live |
| Mice homozygous for this Pign (phosphatidylinositol glycan anchor biosynthesis, class N) ENU-derived mutant have head truncations on this genetic background. Pups are born alive, but die immediately after birth. Heterozygotes are viable and fertile. Expression levels are reported to be normal at embryonic days 10.5 (E10.5) and 14.5 (E14.5). Expression is found in a widespread pattern. This strain may be useful in studies of development. | ||
| 016157 | 129S1.B6-Shroom3m1Nisw/J | Repository- Live |
| Mice heterozygous for the ENU-induced mutation, Shroom3C5745T, are viable and fertile, although homozygotes die shortly before birth. These mice possess a C to T mutation in the codon for amino acid residue 1663 results in an arginine to cysteine change in the shroom family member 3 (Shroom3) gene. These mice exhibit complete exencephaly (hind-mid-forebrain), cleft face, and body wall defects. These mutant mice may be useful in studying embryonic development. | ||
| 016158 | 129S1.B6-Zic2m1Nisw/J | Repository- Live |
| 000645 | A/HeJ | Repository- Live |
| Developed by LC Strong in 1921 from a cross between a Cold Spring Harbor albino and a Bagg albino, the A inbred strain is used widely used in cancer and immunology research. It is highly susceptible to induction of congenital cleft palate by cortisone. It has a high incidence of spontaneous lung adenomas and lung tumors readily develop in response to carcinogens. High percentage of mammary adenocarcinomas (a large proportion acinar type) develop in multiparous females. Rare spontaneous myoepitheliomas arising from myoepithelial cells of various exocrine glands have been observed in The Jackson Laboratory substrains. A small percent (4%) of nonproductive males are hermaphrodites. An additional 17% of nonproductive males have abnormally small testes containing no sperm (Hunt et al., 2008). | ||
| 006246 | A/J-sunk/GrsrJ | Repository- Live |
| Mice homozygous for the sunken mutation are small and have severe kyphosis with the abdomen appearing sunken in. | ||
| 000647 | A/WySnJ | Repository- Live |
| Developed by LC Strong in 1921 from a cross between a Cold Spring Harbor albino and a Bagg albino, the A inbred strain is used widely used in cancer and immunology research. It is highly susceptible to induction of congenital cleft palate by cortisone. It has a high incidence of spontaneous lung adenomas and lung tumors readily develop in response to carcinogens. High percentage of mammary adenocarcinomas (a large proportion acinar type) develop in multiparous females. Rare spontaneous myoepitheliomas arising from myoepithelial cells of various exocrine glands have been observed in The Jackson Laboratory substrains. Unlike A/J mice, A/WySnJ mice carry a spontaneous mutation in Tnfrsf13c and exhibit a significant loss of mature B cells (Miller, et al., 1991, Lentz et al., 1996, Shulga-Morskaya et al., 2004). | ||
| 008657 | AKR/J-agil2J/J | Repository- Live |
| Homozygotes display an abnormal, wobbling gait by 2 weeks of age and are smaller than control littermates. At 3 weeks of age dystrophic axons and vacuoles are found in the spinal cord, white matter, cerebellar peduncles, and eighth cranial nerve root. | ||
| 013561 | B6(129S1)-Pgap1m1Nisw/J | Repository- Live |
| Mice homozygous for this Pgap1 (post-GPI attachment to proteins 1) ENU-derived mutant have head truncations on this C57BL/6 genetic background. Pups are born alive, but die immediately after birth. Heterozygotes are viable and fertile. Expression levels are reported to be normal at embryonic day 10.5 (E10.5). No phenotype is observed on a 129S1/SvImJ genetic background. | ||
| 013175 | B6(Cg)-Grntm1.1Aidi/J | Repository- Live |
| In these Grn-/- mice exons 1-4 are deleted from the targeted granulin (Grn) allele. Homozygotes are viable, fertile, and normal in size. These mice show progressive development of frontotemporal dementia-like behavior and neuropathology. This includes enhanced activation of microglia and astrocytes, and ubiquitination and cytoplasmic accumulation of phosphorylated transactivation response element DNA binding protein-43 (TDP-43) in hippocampal and thalamic neurons. By eighteen months they demonstrate impaired spatial learning and memory. Macrophages from these mice release less interleukin-10 and more inflammatory cytokines in response to microbial agents. Contrary to increased inflammation, these mice exhibit a delay in clearing infections due to a dysregulated inflammatory response, allowing bacteria to proliferate in vivo. Activated PGRN-deficient macrophages and microglia are cytotoxic to hippocampal cells, and PGRN-deficient hippocampal slices are hypers ..... For more information please see the full phenotype on the strain data sheet | ||
| 014142 | B6(Cg)-Prkaa2tm1.1Sjm/J | Repository- Live |
| These Prkaa2 mutant mice possess loxP sites flanking exon 2 of the protein kinase, AMP-activated, alpha 2 catalytic subunit (Prkaa2) gene. Mice that are homozygous for this allele are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. Prkaa2 belongs to the serine/threonine protein kinase family and is the catalytic subunit of the 5'-prime-AMP-activated protein kinase (AMPK). AMPK is a sensor of the energy status of cells and ensures survival during stress. When bred to mice that express tissue-specific Cre recombinase, resulting offspring will have exon 2 deleted in the cre-expressing tissues. When bred to transgenic mice expressing Cre recombinase driven by myxovirus (influenza virus) resistance 1 (Mx1) promoter/enhanced elements, PRKAA2 expression is abolished in hematopoietic cells. This strain may be useful for studying cell growth and energy expenditure. | ||
| 008449 | B6(Cg)-Rag2tm1.1Cgn/J | Repository- Live |
| These RAG-2del mutant mice harbor a pan deletion of exon 3 of the targeted locus. Homozygotes (RAG-2del/del) are viable and fertile, with pan deletion of the entire RAG-2 protein coding region. Homozygous mice may be expected to have the same knockout phenotype as other RAG-2 null mutants or similarly created RAG-2 exon 3 pan-deleted mutants; with hematopoietic and immune system defects including arrested B cell and T cell development at the pro-B and the pro-T cell stages, respectively. These RAG-2del mice may be useful in studying the role of RAG-2 in B cell and T cell development (including cancer and toxicology research as a xenograft/transplant host), T and B cell receptor (V(D)J) recombination, hematopoiesis, hematology, immunology, and inflammation research.
In an attempt to offer alleles on well-characterized or multiple genetic backgrounds, alleles are frequently moved to a genetic background different from that on which an allele was ..... | ||
| 016223 | B6(Cg)-Tg(Phox2b-cre)3Jke/J | Repository- Live |
| Phox2b-Cre BAC transgenic mice are viable and fertile, with Cre recombinase expression under control of the Phox2b promoter/enhancer regions within the BAC transgene. cre-expressing neurons co-express PHOX2B (as shown by in situ hybridization). Phox2b-Cre BAC transgenic mice from founder line 3 exhibit cre expression directed primarily to the hindbrain; specifically the dorsal motor nucleus of the vagus (DMV) in parasympathetic visceral and branchial motor neurons, nodose sensory ganglia, and nucleus of the solitary tract (NTS) cells. No transgene expression is reported in hypothalamus or spinal cord. Although endogenous Phox2b expression is reported in peripheral ganglia along with the enteric nervous system, no peripheral transgene expression is reported for these Phox2b-Cre BAC transgenic mice. When bred with mice containing a loxP-flanked sequence of interest, Cre-mediated recombination will result in deletion of the floxed sequences in the offspr ..... For more information please see the full phenotype on the strain data sheet | ||
| 001934 | B6(D2)-LmnaDhe/TyGrsrJ | Repository- Live |
| Heterozygotes are slightly smaller than normal and develop a sparse, graying, scruffy coat. They have short ear pinnae, an underdeveloped lower jaw, malocclusion, protruding eyes, and low bone mineral density. The skulls are small and disproportionate, and the cranial sutures fail to close. Females can have decreased fertility, but males do not. Males have diminished total body fat. Homozygotes die by approximately 10 days of age, have dysplastic, ulcerated skin and oral mucosae, and a more severe deficiency in skull growth and mineralization. | ||
| 005717 | B6(NOD) H2g7-Sostdc1shk/J | Repository- Live |
| Mice homozygous for the sharkey mutation on this predominantly C57BL/6J background have both upper and lower supernumerary incisors with separate roots for the extra teeth. When outcrossed to CAST/EiJ the F2 only have upper supernumerary incisors. | ||
| 008849 | B6.129(C)-Smn1tm1.1Jme/J | Repository- Live |
| Mice that are heterozygous for the targeted mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. Homozygotes have an embryonic lethal phenotype and die at embryonic day 9. Exon 7 of Smn1 was excised via Cre recombination. The Donating Investigator reports that the phenotype of this strain is similar to the phenotype exhibited by mice carrying the Smn1tm1Hung allele. | ||
| 005085 | B6.129(Cg)-Cd44tm1Hbg/J | Repository- Live |
| Mice that are homozygous for the targeted mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. No gene product (mRNA or protein) is detected. Although lymphocyte development appears unremarkable, irregularities are observed in lymphocyte trafficking. Tail-injected lymphocytes derived from null animals exhibit an impaired ability to traffic to peripheral lymph nodes, and to a much greater degree, the thymus. Transcription and translation of the targeted allele subsequently lead to the synthesis of the lacZ protein under control of the 5' regulatory elements of the endogenous locus in all cells and tissues normally expressing one or several of the CD44 isoforms. In an attempt to offer alleles on well-characterized or multiple genetic backgrounds, alleles are frequently moved to a genetic background different from that on which an allele was first characterized. It should be noted that the phenotype could vary f ..... | ||
| 010635 | B6.129(FVB)-Alcamtm1Jawe/J | Repository- Live |
| Mice that are homozygous for the targeted mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. Embryonic spinal motor nerve bundles exhibit modest defects in fasciculation and, in some cases, abnormal axon trajectories form bridges or turn at right angles to adjacent nerves. However, adult motor function appears grossly normal. A similar defect is observed in retinal ganglion cell axons of the optic fiber layer, in which axons appear fanned-out and defasciculated with wide bundles. Homozygotes exhibit two types of retinal dysplasias characterized by photoreceptor cell evaginations or protrusions from the outer nuclear layer and retinal folding (invagination) inside the orb. The donating investigator indicates that this phenotype is less commonly observed on the C57BL/6 background. ALCAM is also believed to be important for immune system functioning, including T cell activation, and is a marker of tumor progression in numerous ..... For more information please see the full phenotype on the strain data sheet | ||
| 012430 | B6.129-Adrbk1tm1Mca/J | Repository- Live |
| Adrbk1 (adrenergic receptor kinase, beta 1; also known as Grk2) is the main G-protein-coupled receptor kinase in developing embryos, and lack of GRK2 expression results in embryonic lethality before gestational day 15.5. Homozygotes with this targeted mutation show defects which include failure of the heart to develop properly (thin myocardium syndrome). This strain will be useful for delineating the role of GRK2 activity in developmental processes. Heterozygotes exhibit altered adrenergic receptor-regulated heart function when tested as adults, and these mice can be useful for exploring the role of GRK2 function in the regulation of any G-protein coupled receptor subtype. Homozygous embryos lack GRK2 immunoreactivity. Heterozygote mouse brain and heart have 50% of normal GRK2 immunoreactivity. | ||
| 013770 | B6.129-Cacna1htm1Kcam/J | Repository- Live |
| Homozygous Cacna1h (calcium channel, voltage-dependent, T type, alpha 1H subunit; also called α1 3.2) targeted mutant mice have constitutively constricted coronary arterioles and focal myocardial fibrosis. Isolated arteries show normal contractile responses but reduced relaxation in response to acetylcholine and nitroprusside. Diffuse areas of cardiac fribrosis are observed in ventricular walls from 10-week old mice, but not those of wildtype mice. At 1 year of age, their hearts have a more severe cardiac pathology, including larger areas of fibrosis, necrosis and lymphocyte infiltration. Homozygotes are smaller than littermate controls. Heterozygotes do not show any abnormalities. Northern and/or Western blot analysis of brain, testis and dorsal root ganglion tissues confirms the loss of RNA and protein in mice. This strain may be useful in studies of coronary artery function and disease. | ||
| 005319 | B6.129-Cdh1tm2Kem/J | Repository- Live |
| These mice possess loxP sites flanking exons 6 to 10 of the targeted gene. Mice that are homozygous for this allele are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. When used in conjunction with a Cre recombinase-expressing strain, this strain is useful in generating tissue-specific mutants of the floxed allele. | ||
| 004152 | B6.129-Ctnnb1tm2Kem/KnwJ | Repository- Live |
| These mice possess loxP sites located in introns 1 and 6 of the targeted gene. Mice that are homozygous for this floxed allele are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. When bred to a strain expressing Cre recombinase in chrondocytes (see Stock No. 003554 for example), this mutant mouse strain may be useful in studies of chrondocyte differentiation. When bred to a strain expressing Cre recombinase in heart(see Stock No. 005650 or 005657 for example), this mutant mouse strain may be useful in studies of cardiovascular disease. When bred to a strain expressing Cre recombinase in midbrain/dorsal spinal cord (see Stock No. 007807 or > ..... | ||
| 012885 | B6.129-Fbn1tm1Hcd/J | Repository- Live |
| Mice homozygous for this Fbn1 (fibrillin 1) Cys1037Gly missense mutation are small and die before two weeks of age. A similar mutation in man (Cys1039Tyr) is known to cause classic manifestations of Marfan syndrome in humans. Heterozygous mice develop proximal aortic aneurysms, mitral valve thickenings, pulmonary alveolar septation defects, mild thoracic kyphosis, and skeletal myopathy, but 90% reportedly live to one year of age. | ||
| 016162 | B6.129-Gfi1tm2Tmo/J | Repository- Live |
| These mutant mice express EGFP (Enhanced Green Fluorescent Protein) from the endogenous Gfi1 locus. No endogenous gene product (protein) is detected in thymocytes from homozygotes, as detected by FACS analysis. Homozygotes exhibit neutropenia, decreased thymocyte number, and defective B cell and T cell differentiation. The Donating Investigator reports that homozygous mice must be maintained under spf conditions and have a lifespan of 1 year. GFP fluorescence expression mimics the expression pattern of the endogenous gene. Mice that are heterozygous for the targeted mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. Almost all thymocytes from heterozygotes fluoresce. Fluorescence of thymocytes from homozygotes is more intense than fluorescence observed in heterozygotes. At embryonic day 17.5, homozygous embryos exhibit disorganized inner ear sensory epithelia, with abnormal outer hair cells morphology. Neonate ..... For more information please see the full phenotype on the strain data sheet | ||
| 016163 | B6.129-Gfi1tm3(Gfib1)Tmo/J | Repository- Live |
| These mutant mice express mouse Gfi1b (growth factor independent 1B) from the endogenous Gfi1 locus. Mice that are homozygous for the targeted mutation are viable, fertile and normal in size. Higher expression levels of Gfi1b transcript is detected in inner ears as measured by RT-PCR analysis. The Gfi1b knock-in did not completely rescue the Gfi1 knock out phenotype (see STOCK No. 016161). Homozygotes have slightly fewer granulocytes in bone marrow, a small accumulation in bone marrow of immature myeloid cells and monocytes, and fewer mature circulating granulocytes when compared to wildtype controls. At 3 to 3.5 months in age, homozygotes are deaf, do not display a Preyer reflex, abnormal auditory brainstem response (over 100 dB at 8 kHz and over 90 dB at 16 and 32 kHz), and exhibit head bobbing and abnormal reaching response. In neonatal mutants, the cochlear inner hair cells are morphol ..... For more information please see the full phenotype on the strain data sheet | ||
| 016161 | B6.129-Gfi1btm1Tmo/J | Repository- Live |
| These mutant mice express EGFP (Enhanced Green Fluorescent Protein) from the endogenous Gfi1b locus. Homozygous mice have an embryonic lethal phenotype, failing to develop past embryonic days 15. Homozygous embryos, embryonic day 13.5, are pale, have internal hemorrhaging and exhibit very few maturing erythrocytes. No endogenous gene product (protein) is detected in fetal liver cells from homozygous embryos by Western blot analysis. GFP fluorescence expression mimics the expression pattern of the endogenous gene. Fluorescence is detected in fetal livers of heterozygous embryos, at age embryonic day 13.5. Mice that are heterozygous for the targeted mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. In adult heterozygotes, fluorescence is detected in maturing erythroblasts in the bone marrow, with the greatest expression in Ter119high, CD71high late erythroblasts. Fluorescence is also detecte ..... For more information please see the full phenotype on the strain data sheet | ||
| 014607 | B6.129-Mkkstm1Vcs/J | Repository- Live |
| In this strain a neomycin (neo) resistance cassette replaces exon 3 of the McKusick-Kaufman syndrome protein (Mkks or Bbs6) gene, abolishing gene function. Homozygous females are viable and fertile, while homozygous males are infertile due to lack of flagellated sperm. These mice are also smaller at birth than littermates. Mutations in Mkks have been known to cause McKusick-Kaufman syndrome (MKS) and Bardet-Biedl syndrome (BBS). MKS is a disorder characterized by post-axial polydactyly, congenital heart defects and hydrometrocolpos, while BBS is a pleiotropic disorder characterized by retinal and photoreceptor degeneration, obesity, polydactyly, renal abnormalities, hypogenitalism and cognitive impairment. Mkks-/- mice lack MKKS expression in brain, lung, heart, kidney, eye, liver, spleen, testes, and muscle. They develop age-related blindness due to retinal degeneration, are obese, and have elevated blood pressure. These mice may be useful for ..... For more information please see the full phenotype on the strain data sheet | ||
| 008597 | B6.129-Ppargc1atm1Brsp/J | Repository- Live |
| Mice that are homozygous for this targeted mutation are fertile, normal in size and do not display any gross physical or behavioral abnormalities. Approximately half of homozygotes exhibit postnatal lethality. The Donating Investigator reports maintaining homozygous pups at a higher temperature (77°F) increases their survival. No gene product (mRNA or protein) is detected by RNA hybridization, real-time PCR analysis of skeletal muscle or liver, or Western blot analysis of brown fat. Histological examination of the brown fat from homozygotes reveals abnormal accumulation of large lipid droplets. Examination of brain tissue shows spongiform lesions and gliosis. When fed a high fat diet homozygotes have increased insulin sensitivity, glucose tolerance and reduced body weight. After 24 hours of fasting, homozygotes develop mild hypoglycemia. Mutants have impaired mitochondrial function and gluconeogenesis and are hypermetabolic as well as hyperactive. Homozygotes are unable to survive ..... For more information please see the full phenotype on the strain data sheet | ||
| 006084 | B6.129P2(Cg)-Foxg1tm1(cre)Skm/J | Repository- Live |
| This strain expresses Cre recombinase from the endogenous Foxg1 locus. Forkhead box G1 is required for telencephalon development and is expressed specifically in the telencephalon and discrete head structures. When crossed with a strain containing loxP site flanked sequence of interest, Cre-mediated recombination results in tissue-specific deletion of the target. Recombination occurs in the telencephalon, anterior optic vesicle (developing lens and retina), otic vesicle, facial and head ectoderm, olfactory epithelium, mid-hindbrain junction and pharyngeal pouches. Mice that are homozygous for the targeted mutation die perinatally. Heterozygous mutant mice are viable, fertile, normal in size. On the C57BL/6 background, forebrain volume in heterozygotes is substantially reduced especially in the cerebral cortex (40.7%), striatum (29.7%), and hippocampus (18.6%). In the adult, the thalamus is reduced in volume by 21.6%. This mutant mouse strain represents a model that ma ..... For more information please see the full phenotype on the strain data sheet | ||
| 007572 | B6.129P2(Cg)-Rorctm2Litt/J | Repository- Live |
| Mice homozygous for this Rorc(γtGFP (or RORγt)GFP) mutant allele are viable and fertile. While Rorcγ mRNA is detected in liver in Rorc(γ)tGFP homozygotes, mRNA and protein for the thymus-specific isoform (Rorcγt) encoded by the targeted allele are not detected in the thymus. EGFP expression reports Rorc(γt) transcription in the thymi of adult Rorc(γt)GFP mice. Homozygous mice exhibit abnormal lymph node, Peyer's patch, and lymphoid tissue inducer (LTi) cell development. Mice with Rorcγt-deficient T cells lack tissue-infiltrating proinflammatory T-helper cells (Th17 cells), and are protected from induced autoimmune disease (EAE) on this genetic background. The donating investigator also reports increased thymoma incidence with age in homozygotes. These RorcγtGFP mutant mice may be useful in studying immune system homeostasis, T cell repertoire selection, CD4/CD8 double positive (CD4+/CD8 For more information please see the full phenotype on the strain data sheet | ||
| 004912 | B6.129P2-Akt1tm1Mbb/J | Repository- Live |
| Mice that are homozygous for the targeted mutation are viable and do not display any gross behavioral abnormalities. Homozygotes exhibit lower fertility. Female homozygotes do not nurse well; up to 50% perinatal mortality can occur. No gene product (mRNA or protein) is detected by Northern or Western blot analysis of mouse embryonic fibroblasts. Homozygotes are only 80% of wildtype body weight at birth, and remain small. This mutant mouse strain may be useful in related to organismal growth. | ||
| 009120 | B6.129P2-Axin2tm1Wbm/J | Repository- Live |
| Homozygous mice are viable and fertile, with the Axin2lacZ (or conductinlacZ) mutation that both abolishes endogenous Axin2 gene function and expresses NLS-lacZ under the control of the endogenous Axin2 promoter/enhancer regions. Homozygous mice exhibit cranial skull defects and malformations of skull structures; a phenotype resembling craniosynostosis in humans. Specifically, homozygous mice show an obvious reduction in head growth within the first 3 weeks after birth, resulting from developmental defects of the cranial skull (premature fusion of cranial sutures) at early postnatal stages. Axin2-deficient mice have abnormal calvarial morphogenesis/osteoblast development. Because Axin2 is a negative regulator of the canonical Wnt pathway that suppress signal transduction by promoting β-catenin degradation, the NLS-lacZ expression in these Axin2lacZ (or conductinlacZ) mutant mice may be useful in monitoring end ..... For more information please see the full phenotype on the strain data sheet | ||
| 004744 | B6.129P2-Esr1tm1Ksk/J | Repository- Live |
| At birth, mice homozygous for the targeted allele are viable and normal in size and appearence. Female mice exhibit ovaries that lack corpora lutea and hypoplastic uteri that are unresponsive to estrogen. In males, below normal testis weight is associated with a diminished sperm count (10% of normal). Homozygous females are infertile. The fertility of homozygous males is greatly reduced, but not abolished. | ||
| 012909 | B6.129P2-Klf9tm1Yfk/J | Repository- Live |
| Coding sequence of the Klf9 (Kruppel-like factor 9; also known as BTEB) gene is replaced by lacZ in these targeted mutation mice. Homozygotes show reduced activity levels in rotorod and contextual fear-conditioning tests. They also show a subtle increase in anxiety-like behavior. During development, dentate granule neurons lacking expression of this gene show delayed maturation. Homozygous females exhibit sub-fertility and slightly delayed labor. Homozygous pups are generally smaller at birth but catch up in weight by the time of weaning. This strain may be useful in studies of reproduction, development and behavior. | ||
| 016917 | B6.129P2-Lamc1tm1Strl/J | Repository- Live |
| These fLamγ1 mice possess a frt-flanked neomycin resistance (neo) cassette upstream of exon 2, and loxP sites flanking exon 2 of the laminin, gamma 1 (Lamc1) targeted gene. Homozygotes are viable, fertile, and normal in size. The donating investigator reports that the frt-flanked neo cassette that is present upstream of the floxed exon and does not appear to effect expression of Lamc1. Laminins are extracellular matrix proteins composed of heterotrimeric α, β, and γ chains. Laminins regulate basement membrane assembly, and cell proliferation, differentiation, viability, and function. When these mutant mice are bred to mice that express Cre recombinase, resulting offspring will have exon 2 deleted in the cre-expressing tissue. For example, when Lamininγ1 expression is disrupted in Schwann cells (Tg(Mpz-cre)1Mfel; see Stock No. 017927 for example), th ..... For more information please see the full phenotype on the strain data sheet | ||
| 004781 | B6.129P2-Lyz2tm1(cre)Ifo/J | Repository- Live |
| This strain expresses Cre recombinase from the endogenous Lyzs locus. When crossed with a strain containing loxP site flanked sequence of interest, Cre-mediated recombination results in deletion of the targeted gene in the myeloid cell lineage, including monocytes, mature macrophages, and granulocytes. Mice that are homozygous for the targeted mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. This strain represents an effective tool for generating myeloid cell-specific targeted mutants.
View cre expression characterization. | ||
| 005576 | B6.129P2-P2rx7tm1Gab/J | Repository- Live |
| Mice that are homozygous for the targeted allele are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. No full length gene product (mRNA or protein) is detected in cultured bone marrow mast cells or peritoneal macrophages. Samples of whole blood, as well as peritoneal macrophages, derived from mutant mice fail to produce extracellular interleukin 1 beta in response to lipopolysaccharide (LPS) and ATP treatment. Similarly, peritoneal lavage fluids from mutant animals that have been primed with LPS and subsequently challenged with ATP, are deficient in mature interleukin 1 beta, and at later time points, exhibit attenuated interleukin 6 levels when compared to fluids from similarly treated wildtype mice. Peripheral blood monocytes and leukocytes fail to change shape/volume and shed L-selectin in response to ATP. Mutant mice exhibit reduced induction and severity of monoclonal anti-collagen-induced arthritis. Mutant mice also display signif ..... For more information please see the full phenotype on the strain data sheet | ||
| 008336 | B6.129P2-Ptpn6tm1Rsky/J | Repository- Live |
| Mice homozygous for the Ptpn6f allele are viable and fertile, with loxP sites flanking exon 1(II) through most of exon 9 of the targeted gene. When bred to mice that express Cre recombinase, the resulting offspring will have this region deleted in cre-expressing tissue(s). These Ptpn6f mice may be useful in generating conditional mutations for studying the role of Ptpn6 (Shp1) in inflammation and immunology research. For example, when bred to a strain with inducible Cre recombinase expression in liver and lymphocytes (see Stock No. 003556), this mutant mouse strain may be useful in studying the motheaten (me) phenotype; characterized by widespread inflammation and autoimmunity.
When bred to a strain with a Cd19 null allele and expressing Cre recombinase during the B lymphocyte development (Stock No. 004126, Stock No. > ..... | ||
| 012723 | B6.129P2-Spnb3Gt(XK442)Byg/LlpJ | Repository- Live |
| Homozygous Spnb3-/- mice are viable and fertile, and are prone to a mild nonprogressive ataxia and stimulus-induced seizures. This gene trap mutation abolishes endogenous spectrin beta 3 (Spnb3) gene function and expresses a β-galactosidase (β-geo) reporter fusion protein. In these mice synapse morphology is altered, and there is a reduction in synapse-associated proteins, EAAT4, EAAT1, GluRδ, IP3R, and NCAM 140, leading to a failure to assemble transporters, receptors, and adhesion molecules. These Spnb3-/- mice may be useful as a lacZ reporter for Spnb3 expression or as a knockout model for studying glutamate transport dynamics, synaptogenesis, seizures, and neuronal damage. | ||
| 016222 | B6.129S(Cg)-Id2tm1.1(cre/ERT2)Blh/ZhuJ | Repository- Live |
| The Id2-CreERT2 knockin allele was designed to both abolish inhibitor of DNA binding 2 (Id2) gene function and express CreERT2 fusion protein from the Id2 promoter/enhancer elements. Cre-ERT2 fusion gene activity is inducible and can be observed following tamoxifen administration. As such, when Id2-CreERT2 knockin mice are bred with mice containing loxP-flanked sequences, tamoxifen-inducible Cre-mediated recombination will result in deletion of the floxed sequences in the Id2-expressing cells of the offspring.
No mRNA or protein expression from the Id2-CreERT2 allele is observed. The donating investigator reports that homozygous mice are runted with defective lung alveolarization. Other organ systems have not been evaluated. However, Id2-CreERT2 homozygotes may be expected to exhibit the same phenotype as mice homozygous for other null mutations of this gene (including postnatal lethality and defects of the immune system, digestive tract, ..... | ||
| 009412 | B6.129S-Abl1m1/J | Repository- Live |
| Homozygous mice display increased perinatal mortality, runting, increased susceptibility to infection, and abnormal development of the spleen, head and eye. Despite low levels of immature classes of B cells in the bone marrow, homozygotes maintain nearly normal levels of mature functioning B cells. A similar, but less severe defect in T cells is also observed. Cardiac hyperplasia and bone abnormalities are also part of their phenotype. Homozygotes may be born with their eyes open. Testes have the highest expression of the mutant allele, and their protein lacks kinase activity. Heterozygotes show no growth or developmental defects, and both males and females are fertile. | ||
| 013594 | B6.129S-Atoh1tm5.1(Cre/PGR)Hzo/J | Repository- Live |
| A targeting vector was designed to replace the coding sequence of the atonal homolog 1 (Atoh1) gene with a modified Cre-recombinase-progesterone receptor fusion protein (Cre-PR), abolishing gene function. Homozygous Math1Cre*PR mice die before birth due to central respiratory failure. Heterozygous mice are viable,fertile, and normal in size. The Math1Cre*PR/+ allele has expression of the Cre*PR fusion protein under control of the Math1 promoter/enhancer elements. Cre*PR fusion gene activity is inducible; observed only 6-12 hours after administration of RU486, a competitive progesterone receptor antagonist. As such, when Math1Cre*PR/+ mice are bred with mice containing loxP-flanked sequence, RU486-inducible Cre-mediated recombination will result in deletion of the floxed sequences in the Math1-expressing cells of the offspring. As such Math1 is expressed in the hindbrain, specifically in the conscious pro ..... For more information please see the full phenotype on the strain data sheet | ||
| 016566 | B6.129S-Hcn1tm2Kndl/J | Repository- Live |
| HCN1 knockout mice lack the p region and S6 transmembrane (pore-S6) domain of the hyperpolarization-activated, cyclic nucleotide-gated K+ 1 (Hcn1) gene. Homozygous mice are viable, fertile, and normal in size. HCN1 ion channels are essential to pacemaker currents in heart and in neurons, where they regulate dendritic excitability. These mice exhibit impaired learning capacity in visible platform swimming water maze task and rotorod test, and abnormal eye blink conditioning response. Purkinje cell electrophysiology is abnormal. This mutant mouse strain may be useful in studies of learning, memory, neurophysiology, and Parkinson's Disease. | ||
| 013786 | B6.129S1(Cg)-Lama2tm1Eeng/J | Repository- Live |
| A targeting vector was designed to insert a β-galactosidase (lacZ) gene and a neomycin (neo) resistance cassette downstream of the start codon of the laminin, alpha 2 (Lama2) gene, abolishing gene function. Heterozygous dyW mice are viable, fertile and normal in size, while homozygous mice exhibit growth retardation and most die between 2-4 weeks of age. Laminin2, or Merosin, is expressed in striated muscle, peripheral and central nervous systems, thymus, thyroid, intestine, and testis and has been associated with merosin-deficient congenital muscular dystrophy (MCMD). Homozygous dyW mice are passive, small, and emaciated, and demonstrate partial hindleg lameness and clasping. Their muscles contain necrotic fibers with occasional areas of regeneration, and they exhibit pronounced fibrosis and increased creatine kinase (CK) activity. When heterozygous dyW mice are bred with transgenic mice expressing the mouse m ..... For more information please see the full phenotype on the strain data sheet | ||
| 009125 | B6.129S1(Cg)-Lmnatm1Stw/BkknJ | Repository- Live |
| Mice heterozygotes for this lamin A/C mutation are viable and fertile. The targeted allele does not express both full-length transcripts or stable lamin A/C protein. Homozygotes (Lmna -/- mice) exhibit severely retarded postnatal growth beginning as early as 2 weeks of age and abnormal movement/gait by 3-4 weeks of age that progresses to distinct scoliosis/kyphosis and death around 8 weeks of age. Lmna -/- mice also have tissue-specific alterations of nuclear envelope integrity and mislocalization of the inner nuclear membrane protein emerin. In skeletal and cardiac muscle, this results in rapid myopathic onset closely resembling Emery-Dreifuss muscular dystrophy (EDMD). These mice are a model for the autosomal variant of EDMD and may be useful in studying the role of lamins, inner nuclear membrane proteins, nuclear envelope integrity, and chromatin domain anchoring sites in EDMD.
In an attempt to offer alleles on well-characterized or multiple genetic background ..... | ||
| 009089 | B6.129S1(Cg)-Ndntm2Stw/J | Repository- Live |
| The mouse locus 7qB4/B5 (syntenic with the Prader-Willi region at chromosome position 15q11-q13 in humans) encompasses the cluster of paternally-expressed imprinted genes Magel2, Ndn, Mkrn3, and Peg12. As maternal imprinting silences the Ndn allele, only the paternally inherited Ndn allele is expressed. The Ndntm2Stw (ΔNdn-lacZ or Ndn-lacZ) knock-in allele abolishes endogenous gene function and expresses a β-galactosidase fusion protein. Under control of the upstream promoter/enhancer elements, lacZ expression is directed to the same tissues as the wildtype gene. For example, β-galactosidase expression during embryogenesis is highest in hypothalamus, but also detected in other central nervous system tissues (pons and medulla, spinal cord), peripheral nervous system (dorsal root ganglia), and some non-neuronal tissues (tongue, cartilage brown fat). Breeding heterozygous females with wildtype m ..... For more information please see the full phenotype on the strain data sheet | ||
| 006233 | B6.129S1-Casp3tm1Flv/J | Repository- Live |
| On this C57BL/6 congenic background, homozygotes are viable, fertile, and reach adulthood, but females reported display suboptimal mothering instincts. Functional endogenous protein and mRNA are absent from all tissues tested. Homozygous mice are resistant to in vivo cerebral ischemia/reperfusion and in vitro oxygen-glucose deprivation. Ovaries from female homozygotes show aberrant atretic follicles associated with a granulosa cell-intrinsic defect in apoptosis as well as defective corpus luteum regression. Homozygous mice are congenitally deaf with hair cell defects in the Organ of Corti. Optic lens formation/morphology also is abnormal with cataracts at the anterior lens pole. Of note, these mice lack the embryonic/perinatal-lethal brain pathology observed in mutant mice on the 129 and mixed B6;129 genetic backgrounds. These mutant mice may be useful in studies of apoptosis, ovarian follicle and corpus luteum development, and eye and ear development. | ||
| 010616 | B6.129S1-Jag1tm1Grid/J | Repository- Live |
| Mice that are heterozygous for the targeted mutation are viable, fertile, and normal in size. No gene product (mRNA or protein) is detected by RT-PCR or Western blot analysis of homozygous embryos, aged embryonic day 10. Homozygotes have an embryonic lethal phenotype, with defective vasculature formation in the embryo and yolk sac and widespread hemorrhaging at embryonic day 10.5. Heterozygotes exhibit iris coloboma, irregular/off center pupils and corneal opacity. | ||
| 010546 | B6.129S1-Jag2tm1Grid/J | Repository- Live |
| Mice that are homozygous for this targeted mutation have a perinatal lethal phenotype, dying shortly after birth due to craniofacial defects (cleft palate, due to fusion of unelevated palatal shelves with the tongue). Embryos homozygous for the mutation and aged embryonic day 10.5-11.5, display a hyperplastic thick apical ectodermal ridge of the limb buds. Homozygous neonates have bilateral cleft of the secondary palate and syndactyly (fused digits) of both forelimbs and hindlimbs, although the hindlimbs are more affected. The number of inner ear hair cells is increased in mutants. Histological analysis reveals an increased number of inner ear hair cells and disorganized stereocilia bundles in mutants. Homozygotes exhibit abnormal thymic morphology and decreased gamma-delta T cell number. Heterozygotes are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. Heterozygotes have abnormal inner ear morphology (increased number of hair c ..... For more information please see the full phenotype on the strain data sheet | ||
| 006600 | B6.129S1-Mnx1tm4(cre)Tmj/J | Repository- Live |
| Mice heterozygous for this HB9cre targeted mutation are viable and fertile, with cre expression replacing HB9 (Hlxb9 or Mnx1) expression. Under control of the endogenous upstream elements, cre expression is directed to motor neurons. In heterozygotes, cre expression coincides with HB9 expression. Homozygous HB9cre mice die at or soon after birth, with expression of Cre recombinase likewise directed to motor neurons but no expression of endogenous HB9. When these HB9cre mice are bred with mice containing a loxP-flanked sequence of interest, Cre-mediated recombination in the resulting offspring leads to deletion of the flanked sequences in Mnx1/HB9 expressing cells; making them useful in neurodevelopmental studies of homeobox genes, motor neuron function and differentiation, and the central nervous system.
View cre expression characterization. | ||
| 010620 | B6.129S1-Notch2tm1Grid/J | Repository- Live |
| Mice that are heterozygous for the targeted mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. Due to alternative splicing, 2 in-frame gene products (mRNA) are detected by RT-PCR analysis of homozygous embryos. The mutant transcripts would produce proteins with one or two EGF repeats deleted. Levels of the mutant transcripts are similar to the wildtype transcript level. This targeted allele is a hypomorph. Homozygotes are neonatal lethal due to developmental defects in the kidney, heart and eye vasculature. Homozygous neonates exhibit hypoplastic kidneys, with vasculature lesions at the cortical surface, and lack mature glomeruli. Bilateral microphthalmia, with retrolenticular hyperplasia, is observed in homozygotes. At age embryonic day 11.5, some homozygous embryos exhibit delayed growth, pericardial effusion and widespread hemorrhaging. Homozygous embryos that survive past embryonic day 11.5 display myocardial hy ..... For more information please see the full phenotype on the strain data sheet | ||
| 009386 | B6.129S1-Osr2tm1Jian/J | Repository- Live |
| The Osr2-lacZ mutation abolishes endogenous gene function and expresses a β-galactosidase fusion protein (fused in-frame with the N-terminal 15 amino acid residues of the endogenous protein). Under control of the upstream promoter/enhancer elements, lacZ expression is directed to the same tissues as the wild-type gene (for example, β-galactosidase expression during embryogenesis is detected by E9.5 in the mesonephric vesicles). Homozygous mice die shortly after birth with open eyelids, bilateral cleft of the secondary palate, and thickened tympanic rings. Heterozygotes are viable and fertile. These Osr2-lacZ mice may be useful as a lacZ reporter for Osr2 expression or as a knockout model for studying developmental biology (craniofacial, limb, and kidney). | ||
| 010621 | B6.129S1-Snai1tm2.1Grid/J | Repository- Live |
| Mice that are heterozygous for the targeted mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. Homozygous mice have an embryonic lethal phenotype, failing to develop past gastrulation. Homozygotes exhibit a phenotype similar to mice homozygous for the Snai1del1 allele, with abnormal mesoderm with cavities or lacunae, and lined with cells exhibiting a polarized, columnar epithelium morphology. | ||
| 015828 | B6.129S2(FVB)-Pak4tm2.1Amin/J | Repository- Live |
| These Pak4 floxed mutant mice possess loxP sites flanking exons 2-4 of the p21 protein (Cdc42/Rac)-activated kinase 4 (Pak4) gene. Homozygotes are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. Pak4 is a member of the group B family of PAK serine/threonine kinases and is expressed early in development in a variety of tissues. It is involved in the formation of filopodia in response to Cdc42, promoting neuronal growth. When these mutant mice are bred to mice that express Cre recombinase, resulting offspring will have exon 2-4 deleted in cre-expressing tissues. This strain may be useful for studying the role of Pak4 in the development of extraembryonic tissue, embryonic vasculature, and the placenta. | ||
| 008819 | B6.129S2-Itgb3tm1Hyn/JSemJ | Repository- Live |
| Mice that are homozygous for this targeted allele have limited viability, with significant embryonic lethality attributed to fetal hemorrhaging and placental defects. Surviving mice are fertile. No gene product (protein) is detected on the surface of platelets. Pups surviving to three weeks of age may be subject to skin and gastrointestinal tract hemorrhaging. Gastrointestinal tract bleeding is commonly observed in adults and is frequently associated with an enlarged spleen. Erythrocyte number, hemoglobin, hematocrits and thrombus formation are all reduced while bleeding time is prolonged. Varying degrees of liver and kidney necrosis are also observed. Although increased numbers of osteoclasts are observed (3.5 fold over that seen in heterozygotes) they appear to be dysfunctional, having a reduced ability to resorb whale dentin in vitro. Mice are osteosclerotic and hypocalcemic. Enhanced tumor angiogenesis and vascular endothelial growth factor-induced blood vessel growth are ob ..... For more information please see the full phenotype on the strain data sheet | ||
| 015829 | B6.129S2-Pak4tm1Amin/J | Repository- Live |
| In this strain, a neo cassette replaces exon 1 of the p21 protein (Cdc42/Rac)-activated kinase 4 (Pak4) gene, abolishing gene expression. Heterozygotes are viable, fertile, normal in size, and do not display any gross physical abnormalities. Homozygotes die by E11.5 due to fetal heart defects. Pak4 is a member of the group B family of PAK serine/threonine kinases and is expressed early in development in a variety of tissues. It is involved in the formation of filopodia in response to Cdc42, promoting neuronal growth. Improper folding of the caudal neural tubes of homozygous embryos results in the formation of two neural lumens. They also exhibit abnormalities in the development, migration and differentiation of neurons. Specifically, axonal outgrowth was impaired, and neurons failed to migrate to their proper locations. These mice may be useful for studying the role of Pak4 in embryonic and neuronal development. | ||
| 014089 | B6.129S2-Rbfox1tm1.1Dblk/J | Repository- Live |
| These Fox1flox mutant mice possess loxP sites flanking exons 11-12 of the RNA binding protein, fox-1 homolog 1 (Rbfox1) gene. Mice that are homozygous for this allele are viable, fertile, and normal in size. Fox-1 is expressed in brain, heart, and skeletal muscle and regulates alternative splicing in vertebrates by binding specifically to (U)GCAUG sequences. When these mutant mice are bred to mice that express Cre recombinase, the resulting offspring will have exons 11-12 deleted in the Cre-expressing tissue, resulting in inactivation of Fox-1 gene function.
For example, when crossed to a strain expressing Cre recombinase in the central and peripheral nervous system (see Stock No. 003771), this mutant mouse strain may be useful in studies of neuronal excitation and seizures. | ||
| 006141 | B6.129S2-Thbs1tm1Hyn/J | Repository- Live |
| Mice homozygous for this targeted mutation are viable and fertile, with an approximate 20% decrease in embryo/neonate viability and a mild and variable lordotic curvature of the spine apparent from birth. Homozygous mice have an abnormal, but no full length transcript in multiple tissues. Western analysis confirmed the absence of the protein in platelets. Homozygotes exhibit an increase in the number of circulating white blood cells. During the first four to ten weeks of life, homozygotes exhibit patches of acute and organizing pneumonia. At later time points, there is considerable hyperplasia of the various epithelial cell lineages. Mutant mice also have an increased number of retinal endothelial cells and inappropriate remodeling and maturation of retinal vasculature following injury. On the FVB/N background, spontaneous tumor growth and vasculature are significantly increased compared to wildtype. Mutant mice may be useful in studies of inflammatory responses in the lungs, eye, and ..... For more information please see the full phenotype on the strain data sheet | ||
| 007899 | B6.129S4-Casp2tm1Yuan/J | Repository- Live |
| Mice homozygous for this caspase-2 targeted mutation are viable and fertile. As the mutation deletes the QACRG active site and the caspase-2S sequence of the endogenous enzyme, this deletion was shown to inactivate both the long and short form of caspase-2. As such, homozygous mice exhibit defects in regulation of apoptosis; including an enlarged oocyte reserve attributed to a germ cell-intrinsic death defect during prenatal ovarian development (resistance to oocyte cell death following complete cytokine starvation or exposure to an anticancer drug), as well as accelerated motor neuron cell death and defective B lymphoblast apoptosis. In addition, caspase-2-deficient mice exhibit characteristics of premature aging (including shortened maximum lifespan, impaired hair growth, increased bone loss, reduced body fat content, and higher hepatic levels of oxidized proteins). As caspase-2 acts as an upstream regulator of cell death in many cell types, caspase-2-deficient mice may b ..... For more information please see the full phenotype on the strain data sheet | ||
| 008179 | B6.129S4-Krastm4Tyj/J | Repository- Live |
| This strain carries a point mutation (G12D) whose expression is blocked by the presence of a loxP-flanked stop codon. Homozygotes die in utero. Cre-mediated recombination can excise the stop codon and permit the oncogenic protein to be expressed. Intranasal infection with an adenovirus encoding Cre results in a very high frequency of lung tumors and permits controlled timing of tumor initiation and tumor multiplicity. This strain may be useful in studies of cancer and development. When bred to a strain expressing Cre recombinase under the control of a tetracycline-responsive promoter element and a strain expressing a tetracycline-controlled activator protein in lung epithelial cells (see Stock No. 006234 and 006235 respectively), this mutant mouse strain may be useful in studies of lung development.
When bred to a strain expressing Cre recombinase in the male g ..... | ||
| 008102 | B6.129S4-Ltb4r1tm1Adl/J | Repository- Live |
| Mice homozygous for this BLTR (BLT1)-deficient allele are viable and fertile. Northern blot analysis of neutrophils, macrophages, lymph nodes, lungs, and
spleens isolated from homozygous mice show absence of the normal transcript and presence of the expected larger transcript (due to the insertion of the neomycin resistance cassette in exon 2 of the targeted gene), albeit at lower levels than the wild type transcript. Homozygous disruption of this allele confers impaired leukocyte function (chemotaxis, recruitment, firm adhesion). For example, homozygotes exhibit substantially diminished recruitment of eosinophils in a model of peritonitis, effector T cells in a model of allergic pulmonary inflammation, and neutrophils in a model of rheumatoid arthritis. As the G protein-coupled receptor BLTR/BLT1 is expressed on myeloid leukocytes (including neutrophils, macrophages, eosinophils, T cell lymphomas, and effector T cells (TH1 CD4+ cells, TH2 CD4+ cells, and effecto ..... For more information please see the full phenotype on the strain data sheet | ||
| 003755 | B6.129S4-Meox2tm1(cre)Sor/J | Repository- Live |
| This strain expresses Cre recombinase under the control of the endogenous Meox2 promoter. Expression of Cre recombinase is observed in epiblast-derived tissues as early as embryonic day 5. The insertion creates a null allele for the Meox2 gene. Homozygous mice are viable on this background but exhibit an overall reduction in muscle mass and the absence of specific muscles resulting in abnormal limb posture and reduced motility. This phenotype is variable. As many as 80% of homozygotes are severely affected, fail to thrive and die before weaning. Some homozygotes (10%) exhibit clefting of the secondary palate. These mice can be utilized as a deleter strain for loxP flanked DNA and provide an alternative to tetraploid embryo analysis. | ||
| 007893 | B6.129S4-Myf5tm3(cre)Sor/J | Repository- Live |
| This strain expresses Cre recombinase from the endogenous Myf5 locus. When crossed with a strain containing loxP site flanked sequence of interest, Cre-mediated recombination results in tissue-specific deletion of the target. Recombination occurs skeletal muscle and the dermis, and in several ectopic locations. Homozygotes for this allele have a perinatal lethal phenotype and die at birth. Homozygotes display abnormal rib development and some fusions of the cervical or thoracic vertebrae. This mutant mouse strain represents a model that may be useful in studies of skeletal development.
In an attempt to offer alleles on well-characterized or multiple genetic backgrounds, alleles are frequently moved to a genetic background different from that on which an allele was first characterized. This is the case for the strain above. It should be noted that the phenotype could vary from that originally described. We will modify the strain description if necessary as p ..... | ||
| 007669 | B6.129S4-Pdgfratm11(EGFP)Sor/J | Repository- Live |
| Mice homozygous for this knock-in targeted mutation have an embryonic lethal phenotype, with half of the embryos failing to survive past embryonic day 12.5 and the remainder failing to survive beyond embryonic day 15.5. These mice express the H2B-eGFP fusion gene from the endogenous Pdgfra locus. Fluorescence is detectable at embryonic day 4.5 in polar trophectoderm cells and at embryonic day 6.5 in the extraembryonic ectoderm. Expression of H2BGFP mimick the expression pattern of the endogenous gene. Homozygotes exhibit abnormal placenta development and placenta vasculature. This mutant mouse strain may be useful in studies of cellular signaling during development and in adult mice; specifically receptor tyrosine kinases (RTK; such as Ras, MAP kinase, PI3K and those in the platelet-derived growth factor (PDGF) family). | ||
| 008236 | B6.129S4-Seletm1Dmil/J | Repository- Live |
| Mice homozygous for this E-selectin mutant allele (E-/-) are viable and fertile with normal circulating leukocyte and platelet profiles. While several transcripts are generated from the mutant locus (due to transcription from the endogenous promoter and/or bidirectional transcription initiated from the pgk promoter in the neo-resistance cassette), these frame-shifted transcripts are non-functional with several predicted stop codons. In contrast to wildtype mice, no protein product is detected in several tissues isolated from LPS-injected homozygous mice. Homozygous mice exhibit abnormal responses to inflammatory stimuli. E-selectin deficiency results in endostatin unresponsiveness (as shown in corneal angiogenesis (mixed B6;129 genetic background) and aortic explant (C57BL/6 congenic background) experiments). These E-selectin mutant mice may be useful in studying inflammation, leukocyte rolling, leukocyte-endothelial adhesion, angiogenesis, and cancer.
Of note, E-sel ..... | ||
| 010672 | B6.129S4-Tnfrsf11btm1Eac/J | Repository- Live |
| Mice homozygous for this osteoprotegerin (OPG)-mutant allele are viable and fertile. While a smaller transcript is made from the disrupted allele, the spliced product is predicted to be out of frame and result in a nonfunctional protein. OPG-deficient mice exhibit dysregulation of osteoclast production leading to drastic changes in the bone architecture; homozygotes develop severe osteoporosis, gross deformations in bone structure, decreased bone density, and altered long bones physical dimension. Hematopoietic, B lymphocyte, and dendritic cell functions are also dysregulated. It has been the experience of The Jackson Laboratory that animals homozygous for the Tnfrsf11btm1Eac exhibit significant (~50%) pre-wean mortality.
In an attempt to offer alleles on well-characterized or multiple genetic backgrounds, alleles are frequently moved to a genetic background different from that on which an allele was first characterized. It should be noted that the phenotype ..... | ||
| 012564 | B6.129S5-Dhcr24tm1Fein/SbpaJ | Repository- Live |
| Homozygous mice on the C57BL/6 genetic background die within the first postnatal day with features of lethal restrictive dermopathy; including taut, wrinkle-free, shiny skin, severe defects in epidermal maturation/epidermal barrier function (impaired epidermal development), and increased presence of hyperproliferative immature keratinocytes (defective keratinocyte differentiation). The increased transepidermal water loss/increased epidermal water content is associated with increased aquaporin-3 (AQP3) expression throughout the epidermis. Mice heterozygous for this allele are viable and fertile, with no overt phenotype. As the Dhcr24 protein functions to catalyze the last step of cholesterol biosynthesis (the conversion of desmosterol to cholesterol), homozygous disruption of this locus results in desmosterolosis: almost no cholesterol in plasma and tissues with ~99% of total sterols in the form of desmosterol. lacZ expression from the mutant allele is not characterized.
<> ..... For more information please see the full phenotype on the strain data sheet | ||
| 016902 | B6.129S5-Irf6Gt(OST398253)Lex/J | Repository- Live |
| In this strain a gene construct (VICTR48), containing a neomycin resistance (neo), integrated downstream of the splice donor site of the interferon regulatory factor 6 (Irf6) gene. Mice that are heterozygous for the gene trap mutation are viable and fertile. Homozygotes have a perinatal lethal phenotype. IRF6 is a transcription factor involved in keratinocyte, epidermal, and epithelial cell proliferation as well as craniofacial development. IRF6 is expressed in the skin and oral epithelium from E17.5. Heterozygotes have mild oral adhesions between epithelial layers of the maxilla and mandible. Homozygous embryos have taut, shiny skin, lack external ears and have snouts and jaws shorter and more rounded than their wild-type littermates. They also have short forelimbs that lacked visible digits, a single caudal projection that lacked visible hindlimbs and tail, and a cleft secondary palate. Their skeleton also exhibits a split xiphoid process, shortened sternum, delayed oss ..... For more information please see the full phenotype on the strain data sheet | ||
| 013190 | B6.129S5-MtorGt(OST92090)Lex/J | Repository- Live |
| This secretory trap mutation abolishes endogenous mTOR (Mechanistic target of rapamycin) gene function and expresses a neomycin (neo) resistance cassette/simian virus 40 (SV40) polyadenylylation signal fusion protein. Heterozygous mice are viable, fertile, and normal in size, while homozygous mice die by e6.5. mTOR forms the complex mTORC1 with mLST8 (mTOR associated protein (LST8 homolog)) and Rptor (regulatory associated protein of mTOR, complex 1), which is critical for the growth of the inner cell mass and trophoblast cell outgrowth during early embryonic development. mTOR also forms the complex mTORC2 with mLST8 and Rictor (Rptor independent companion of mTOR, complex 2), which is critical for midgestational embryonic development. The inner cell mass and trophoblast giant cells fail to expand in explanted mTOR-/- blastocysts. By day 4 the cells of the blastocysts stop growing and by day 7 the cells are detached and dying. These mice may be useful for studying mTOR complex sig ..... For more information please see the full phenotype on the strain data sheet | ||
| 016607 | B6.129S6(Cg)-Islr2tm1.1Ddg/J | Repository- Live |
| In this targeted mutant strain, a tauEGFP cassette disrupts the translation initiation codon of the Islr2 (immunoglobulin superfamily containing leucine-rich repeat 2; also called Linx) gene. The absence of expression has been confirmed in brain, spinal cord and dorsal root ganglia. Heterozygotes are viable and fertile, but homozygotes die shortly after birth. In the peripheral nervous system, homozygous mutant mice partially phenocopy the axonal projection and branching defects observed in mice lacking Ngf (nerve growth factor), Ntrk1 (neurotrophic tyrosine kinase, receptor, type 1; also called TrkA) or Ret (ret proto-oncogene). An EGFP reporter gene enables visualization of Islr2 neuronal axons through immunohistochemistry (IHC) or immunocytochemistry (ICC). This strain may be useful in studies of somatosensory and motor neuron development. | ||
| 008101 | B6.129S6(FVB)-Ptgs2tm1.1Fun/J | Repository- Live |
| Mice that are homozygous for the targeted mutation are viable, normal in size and do not display any gross physical or behavioral abnormalities. Female homozygotes are not fertile. The protein gene product does not have cyclooxygenase activity while the peroxidase activity is normal as measured by LPS induction of macrophages derived from mutant mice. Mutant mice are more sensitive to collagen treatment resulting in reduction of platelet numbers (indicating enhanced thrombogenesis) and exhibit a higher frequency of sudden death due to thromboxane receptor agonist treatment. No prolonged bleeding time from LPS administration is observed. Prostaglandin E metabolite levels are diminished in urine. Three month old mutant mice have elevated systolic blood pressure (measured by the tail cuff method). Homozygotes exhibit undersize, pale kidneys with atrophic cortices, interstitial inflammation, hypoplastic glomeruli and glomerulosclerosis.
This mutant mouse strain may be useful in studies of ..... For more information please see the full phenotype on the strain data sheet | ||
| 015840 | B6.129S6-Itga8tm1.1Rdav/J | Repository- Live |
| Mice homozygous for this f(α8) conditional allele are viable and fertile, with loxP sites flanking the last two coding exons (exons 29-30) of the Itga8 gene (also called integrin alpha 8, alpha8-integrin, or α8-integrin). When bred to mice that express Cre recombinase, the resulting offspring will have the sequences encoding the transmembrane and the cytoplasmic domains deleted in the cre-expressing tissue(s). These f(α8) mutant mice may be useful in generating conditional mutations for studying the role of Itga8 transmembrane cell adhesion receptors in neuronal function in the developing and adult central nervous system, including intracellular signaling, behavior, synaptic plasticity, and memory formation.
For example, when f(α8) mice are bred to mice expressing Cre recombinase in forebrain neurons (see Stock No. 005359 for example), the double mutant offspring may exhibit impa ..... | ||
| 005623 | B6.129S6-Shhtm2(cre/ERT2)Cjt/J | Repository- Live |
| This strain expresses a fusion product involving Cre recombinase and a mutant form of the human estrogen receptor ligand binding domain from the endogenous Shh locus. The mutant human estrogen receptor does not bind natural ligand at physiological concentrations but will bind the synthetic ligand, 4-hydroxytamoxifen. Restricted to the cytoplasm, the Cre/ESR1 protein can only gain access to the nuclear compartment after exposure to tamoxifen. Tamoxifen administration induces Cre recombinase expression in all cells that express the endogenous gene resulting in the deletion of the first 35 base pairs following the ATG. Homozygous mice are not viable or fertile. Heterozygous mutant mice are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. This mutant mouse strain may be useful in studies of limb patterning and development. | ||
| 012468 | B6.129S7-Fyntm1Sor/J | Repository- Live |
| Mice homozygous for this targeted mutation are viable, fertile and are grossly normal. Homozygous mutant mice exhibit defective T cell receptor signaling, a reduction in levels of tyrosine-phosphorylated proteins, failure to flux calcium in response to TCR cross-linking, and a reduction in production of calcium-related IL2. THY-1-induced proliferation is also reduced in thymocytes but not in splenic T cells. Neurological defects include blunted long-term potentiation (LTP), impaired special learning, and altered hippocampal development. In an attempt to offer alleles on well-characterized or multiple genetic backgrounds, alleles are frequently moved to a genetic background different from that on which an allele was first characterized. This is the case for the strain above. It should be noted that the phenotype could vary from that originally described. We will modify the strain description if necessary as published results become available. | ||
| 008818 | B6.129S7-Itga3tm1Rdav/J | Repository- Live |
| Mice homozygous for this f(α3) conditional allele are viable and fertile, with loxP sites flanking exons 11-18 of the Itga3 (integrin alpha 3 (or alpha3-integrin (α3-integrin)) gene. When bred to mice that express Cre recombinase, the resulting offspring will have the floxed region deleted in the cre-expressing tissue(s): such deletion leads to a non-sense mutation from direct splicing of exon 10 to exon 19 and results in a truncated peptide that is predicted to be missing more than half of the wild-type sequence, including those that encode the transmembrane and the cytoplasmic domains. These f(α3) mutant mice may be useful in generating conditional mutations for studying the role of Itga3 transmembrane cell adhesion receptors in neuronal functions in the developing and adult central nervous system, including synaptic plasticity and memory formation.
When bred to a strain expressing Cre recombinase in the hippocampal CA1 pyramidal cells ..... | ||
| 002128 | B6.129S7-Itgb2tm1Bay/J | Repository- Live |
| Mice homozygous for the Itgb2tm1Bay mutation are viable and fertile. Homozygous mutant mice show an increased neutrophil count, and a decreased inflammatory response to peritonitis. Responses to delayed-type hypersensitivity and rejection of transplanted tissue are impaired. PLEASE NOTE: The Itgb2tm1Bay allele is not a null mutation; it is a hypomorphic mutation which results in the expression of very low levels of Itgb2 protein. This strain serves as a model for the moderate form of human CD18 deficiency. | ||
| 006883 | B6.129S7-Ldlrtm1Her Sod2tm1Leb/J | Repository- Live |
| Independently, mice that are homozygous for this MnSOD mutation (Sod2tm1Leb) allele exhibit postnatal lethality and exhibit anemia, degeneration of neurons in the basal ganglia and brainstem, progressive motor disturbances, and myocardial injury. Individual LDLR homozygous mutants are predisposed to atherosclerosis. When mutant mice are homozygous for both alleles, they die in utero. Mice heterozygous for the Sod2 mutation and homozygous for the LDLR are viable and fertile. The mice may be useful in studies of diabetes, metabolism, hyperglycemia, atherosclerosis, and hypercholesterolemia, and oxidative stress. | ||
| 013106 | B6.129S7-Sox9tm2Crm/J | Repository- Live |
| These Sox9flox mutant mice possess a loxP site upstream of exon 2, a neomycin resistance (neo) cassette followed by another loxP site downstream of exon 3 of the SRY-box containing gene 9 gene, Sox9. Mice that are homozygous for this allele are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. When these mutant mice are bred to mice that express Cre recombinase, the resulting offspring will have exons 2-3 deleted in the cre-expressing tissue, resulting in inactivation of Sox9 gene function. Breeding these Sox9flox mice to strains that express Cre recombinase ubiquitously results in severe bone defects and perilethality. This strain may be useful for studying cell fate determination including endochondral bone formation, limb development and patterning, joint formation, and hair and stem cell differentiation | ||
| 003568 | B6.129S7-Trp63tm2Brd/J | Repository- Live |
| Mills 1999 Nature 398:708 describes the homozygous phenotype on a mixed B6-Tyrc-Brd;129S7(129S5) background. Further, they not distinguish between the two targeted alleles (pTV6H(90)-generated p63Brdm1 [Trp63tm1Brd] or pTV12E(60)-generated p63Brdm2 [Trp63tm2Brd]) as both "produced an identical phenotype." Homozygous mice are born alive, but die several hours after birth. No transcripts have been detected in homozygotes. They have striking developmental defects, exhibiting truncated forelimbs, absent hindlimbs, and transparent skin with a complete lack of hair follicles. Both the gross and histological appearance of internal organs is normal. Functional permeability of the skin is dramatically increased; homozygous mice lose thirty times more water than normal littermates. It is presumed that death occurs from dehydration. Heterozygous mice are viable, fertile, and do not exhibit any overt developm ..... For more information please see the full phenotype on the strain data sheet | ||
| 016590 | B6.129S7-Ube3atm1Alb/J | Repository- Live |
| Mice that are heterozygous for the targeted mutation are viable and fertile. Due to imprinting, with preferential expression of the maternal allele, heterozygous mice with a maternal deficiency display the phenotype while heterozygous mice with a paternal deficiency do not. There is a slightly reduced viability prior to weaning for homozygous offspring from heterozygous parents for mice on the hybrid B6;129 background. Surviving homozygous mice can display delayed growth and motor dysfunctions and have reduced fertility. No gene product (mRNA) is detected by Northern blot analysis in homozygous ES cells. Heterozygous mice that inherit the deficient allele maternally exhibit a 64-73% reduction in protein levels in heart, liver, and kidney tissues.
In situ hybridization reveals no detectable expression in hippocampal neurons and Purkinje cells of heterozygotes with a maternal deficiency. Heterozygous mice with the maternal deficiency develop fewer dopaminergic neurons in the substant ..... For more information please see the full phenotype on the strain data sheet | ||
| 007579 | B6.129X1(Cg)-Fgfr2tm1Dor/J | Repository- Live |
| Mice homozygous for this Fgfr2flox allele possess loxP sites flanking exons 8-10 of the targeted gene and are viable and fertile. When these mutant mice are bred to mice that express Cre recombinase, resulting offspring will have sequences encoding the alternatively spliced Ig domain IIIb, as well as the IIIc and TM domains, deleted in the cre-expressing tissue(s). These Fgfr2-flox mutant mice may be useful in generating conditional mutations to study the role of fibroblast growth factor receptors in vertebrate development; including early embryogenesis, regional specification of the brain, limb morphogenesis, and normal bone, craniofacial, and lens development.
For example, when crossed to a strain expressing Cre recombinase in the central nervous system, especially astrocytes (see Stock No. 004600), this mutant mouse strain may be useful in studies of astroglial migration. When crossed to ..... | ||
| 017292 | B6.129X1(Cg)-Pkd2tm1.1Tjwt/J | Repository- Live |
| These Pkd2cond mutant mice possess loxP sites flanking exons 11-13 of the polycystic kidney disease 2 (Pkd2) gene. Mice that are homozygous for this allele are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. PKD2 is a calcium-permeable membrane channel expressed in fetal kidneys and in most adult tissues. Along with PKD1, PKD2 regulates cell proliferation, cell migration, and interactions with other cells, and is necessary for normal development and function of the kidneys. Mutations in PKD2 are responsible for 15% of all cases of autosomal dominant polycystic kidney disease (ADPKD). When bred to mice that express tissue-specific Cre recombinase, resulting offspring will have exons 11-13 deleted in the cre-expressing tissues. This strain may be useful for studying renal development in ADPKD.
For example, when crossed to a strain expressing Cre recombinase in endothelial cells (see Stoc ..... | ||
| 012843 | B6.129X1(Cg)-Slc32a1tm1.1Bgc/J | Repository- Live |
| Mice that are heterozygous for the targeted mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. Homozygous null mice have perinatal lethal phenotype due to respiratory failure. No gene product (mRNA) is detected by RT-PCR analysis of brain tissue from homozygous embryos aged E16.5. Beta-galactosidase staining pattern mimics the endogenous gene expression pattern. Neonate homozygotes exhibit lack of movement, hunched posture, cleft secondary palate, umbilical hernia, and bumps of displaced brown fat deposits in the dorsal cervical area. The Donating Investigator reports that adult heterozygous males on the C57BL/6J background have seizures starting approximately at age 6 months. | ||
| 002994 | B6.129X1-Baxtm1Sjk/J | Repository- Live |
| Mice homozygous for the Baxtm1Sjk mutation are viable but display lineage-specific aberrations in cell death. Thymocytes and B cells from homozygous mutant mice display hyperplasia. Ovaries contain unusual atretic follicles with excess granulosa cells while Bax-deficient males are infertile. There is an accumulation of atypical premeiotic germ cells and no mature haploid sperm found in seminiferous tubules. Multinucleated giant cells and dysplastic cells accompany massive cell death. Used in conjunction with strain B6.129-Bak1tm1Thsn/J (see Stock No. 004183), to generate the double knock-out Bak/Bax, a model for demonstrating severe defects in the regulation of apoptosis during development and tissue homeostasis.
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| 014172 | B6.129X1-Camkk2tm1Tch/J | Repository- Live |
| Mice that are homozygous for this knockout mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. The Donating Investigator reports that mutant mice have reduced osteoclast differentiation and function. Cortical neurons isolated from double mutant mice carrying the Camkk2tm1Tch and Camkk1tm1Tch (see Stock No. 006606) alleles exhibit shortened axons and dendrites. | ||
| 007181 | B6.129X1-Notch1tm2Rko/GridJ | Repository- Live |
| Mice homozygous for this "floxed" Notch1 allele (fN1) are viable and fertile. These mice possess loxP sites on either side of exon 1 of the targeted gene. When bred to mice with a Cre recombinase gene, exon 1 of the targeted gene is deleted in the cre expressing tissue(s). These conditional knockout mice may be useful in generating tissue-specific mutants for studying the development of a wide range of tissues: for example, when crossed to a strain expressing Cre recombinase primarily in the nervous system (see Stock No. 003771), this mutant strain may be useful in studies of apoptosis in neural development.
When crossed to a strain expressing a differential Cre mediated reporter protein labeling: Notch1 signaling in actively cycling stem/progenitor cells (see Stock No. 006953), this mutant strain may be useful in studies of loss of Notch1 heterozyg ..... | ||
| 008712 | B6.129X1-Twist2tm1.1(cre)Dor/J | Repository- Live |
| Dermo1-cre (Twist2-cre) mutant mice harbor a Cre recombinase "knock-in" allele that also abolishes endogenous Twist2 gene function. Heterozygotes are viable and fertile, while homozygotes (twist-2-/-) die a few days after birth. Under control of the upstream promoter/enhancer elements, cre expression is observed in a pattern consistent with the wildtype gene; Cre recombinase activity is reported in mesoderm as early as embryonic day 9.5, in mesodermal tissues such as branchial arches and somites, and in condensed mesenchyme-derived chondrocytes and osteoblasts. When heterozygotes are bred with mice containing a loxP-flanked sequence of interest, Cre-mediated recombination will result in deletion of the floxed sequences in Dermo1-expressing tissues of the offspring. Homozygous mice exhibit elevated expression of proinflammatory cytokines resulting in perinatal death from cachexia (wasting), as well as progressive growth retardation, impaired movement, th ..... For more information please see the full phenotype on the strain data sheet | ||
| 001809 | B6.Cg-Aw-J EdaTa-6J +/+ ArTfm/J | Repository- Live |
| Testicular feminization (ArTfm) is a dominant spontaneous mutation on the X chromosome. Hemizygous male mice are outwardly female in appearance except that the vagina does not open until 3 months of age if at all. Male reproductive development is abnormal leading to very small testes, and the absense of vas deferens, the epididymis, and male accessory glands. Spermatogonia and Sertoli cells are present in the testes, but spermatogenesis does not proceed past meiotic prophase. Leydig cells, which normally produce androgen in males, fail to develop normally. This strain is also segregating for the tabby 6J mutation (EdaTa-6J) that affects both the coat color and hair pattern growth. The tabby mutation is maintained in repulsion with the testicular feminization mutation and is used as a coat color marker to assist in identifying resulting genotypes obtained from matings. | ||
| 007083 | B6.Cg-Cav1tm1Mls/J | Repository- Live |
| Mice that are homozygous for the targeted mutation are viable, fertile and do not display any gross physical abnormalities. Mutant mice exhibit exercise intolerance when challenged and are slightly hyperphagic. No gene product (protein) is detected by Western blot analysis in adipose, lung and heart tissues or in cultured mouse embryonic fibroblasts (MEFs). A decrease in the level of co-expressed caveolin-2 protein is immunodetected. At age 4-5 months, mutant mice are often smaller than their wildtype littermates. By one year of age, mutant mice weigh 5 to 7 grams less than wildtype, and are resistant to diet-induced obesity. Progressive adipose pathology results in reduced white adipose tissue with abnormally small adipocytes and enlarged, hyperplastic brown adipose tissue. Homozygotes display lipid metabolism and uptake disruption with elevated serum triglycerides and free fatty acid levels, and reduced leptin levels. Isolated aortic tissue segments have a diminished vasoconstriction ..... For more information please see the full phenotype on the strain data sheet | ||
| 000305 | B6.Cg-Fbn1Tsk +/+ Pldnpa/J | Repository- Live |
| Mice homozygous for the pallid spontaneous mutation Pldnpa and nonagouti (a) have pink eyes and a light, yellow-brown coat. The Pldnpa/Pldnpa mice have a slightly lighter coat than strains that are homozygous for the pink-eyed dilution allele (Oca2p/Oca2p). Viability of homozygous mutant mice is slightly reduced. Some homozygotes have slightly abnormal behavior, with abnormal postural responses and head tilting due to the absence of otoliths in the sacculus and utriculus in many but not all mutant mice. The effect of pallid on behavior and otolith morphology appears to be a result of manganese deficiency. Homozygotes display defective mucopolysaccharide synthesis in the otolith matrix and a slower rate of transport of manganese, L-dopa, and L-tryptophane in the brain. Homozygotes have elevated basal and testosterone-induced levels of the kidney lysosomal enzymes b-glucuronidase, b-galactosi ..... For more information please see the full phenotype on the strain data sheet | ||
| 014632 | B6.Cg-Fbn1Tsk/J | Repository- Live |
| The Fbn1Tsk allele contains a 30 to 40kb genomic tandem duplication resulting in a larger than normal in-frame transcript. Homozygotes are embryonic lethal, failing to survive past somite formation (7-8 days of gestation). Heterozygotes are viable and fertile, exhibiting excessive growth and hyperplasia of connective tissue, cartilage, tendon sheaths and bone. Skin tightness, due to hyperplasic thickening of subcutaneous loose connective tissue and abnormal organization and distribution of skin microfibrillar arrays, develops by the first week after birth. Although the size of the skeleton is increased, body weight remains normal. Mutant mice exhibit polyuria during the light cycle. Collagens and glycosaminoglycans accumulate in the skin, heart, lungs and bladder. Hypertrophy is also observed in the enlarged heart (aortic adventitia). Mutant mice have enlarged thoracic size and lungs with abnormal alveolar walls, irregular shaped alveoli, and increased lung cap ..... For more information please see the full phenotype on the strain data sheet | ||
| 004088 | B6.Cg-Foxp3sf/J | Repository- Live |
| Scurfy mice develop an X-linked lymphoproliferative disease resulting from defective T cell tolerance. Phenotypes associated with these mice include runting, scaly, crusty skin on the eyelids, ears and tails, dermal thickening, squinted eyes, cachexia, reddening and swelling of the genital papilla, and small testicles that are retained in the abdominal cavity. This disorder, which parallels X-linked autoimmunity-allergic disregulation syndrome (XLAAD) in humans, results in Coombs' test-positive anemia, hypergammaglobulinemia, a small, thin thymus, and lymphohistiocytic proliferation in the skin and lymphoid organs, with splenomegaly, lymphadenomegaly, and hepatomegaly. Foxp3sf/Y males generally die by 16-25 days of age. Transgenic expression of Foxp3 prevents scurfy disease in Foxp3sf/Y mice. Neonatal thymectomy of scurfy males ameliorates disease and increases lifespan; athymic nude (Foxn1nu/Foxn1nu) ..... | ||
| 012844 | B6.Cg-Gad1tm1.1Bgc/J | Repository- Live |
| Mice that are heterozygous for the targeted mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. Homozygous null mice have a lethal phenotype. Beta-galactosidase staining pattern mimics the endogenous gene expression pattern. All newborn homozygotes have cleft palate, and 85% of neonate homozygotes exhibit umbilical hernia. | ||
| 006338 | B6.Cg-Lgals3tm1Poi/J | Repository- Live |
| Homozygous mutant mice are viable, fertile, normal in size and do not display any gross physical or behavoiral abnormalities. No gene product (mRNA or protein) is detected by in situ hybridization of tibia bones sections from embryonic day 16.4 mice or by immunohistological staining of fetal skin. Homozygotes have an impaired acute inflammation response. Initial inflammatory infiltrate cell recruitment is normal, but four days after intraperitoneal injection of thioglycollate, mutant mice have a four-fold lower number of recruited granulocytes. Mutant mice have impaired chondrocyte differentiation during long bone development. Fewer hypertrophic chondrocytes but more empty lacunae and condensed chondrocytes are found in the chondrovascular junction. Chondrocytes, cartilage matrix and lacunae are morphologically abnormal. Carbon tetrachloride-induced liver fibrosis results in reduced collagen deposition when compared to wildtype controls. Mutant mice also display defective myofibroblast ..... For more information please see the full phenotype on the strain data sheet | ||
| 013716 | B6.Cg-Lhfpl2vgim/GrsrJ | Repository- Live |
| 013121 | B6.Cg-Lootl/GrsrJ | Repository- Live |
| The loop tail like mutation is similar to the loop tail mutation of the Vangl2 gene in causing neurodevelopmental defects leading to short, curly tails and spina bifida. There is incomplete penetrance and prenatal and perinatal lethality. Some heterozygous with mild spina bifida survive to adulthood and have bred. Some heterozygous females have closed vaginas. | ||
| 013188 | B6.Cg-Rptortm1.1Dmsa/J | Repository- Live |
| These Rptorflox/flox mutant mice possess loxP sites flanking exon 6 of the regulatory associated protein of mTOR (Mechanistic target of rapamycin), complex 1 , Rptor, targeted gene. Mice that are homozygous for this allele are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. When these mutant mice are bred to C57BL6-Tg(AlbCre)21Mgn (Stock No. 003574) mice, which direct liver-specific expression of Cre, mice exhibit a decrease in liver size yet produce ketones for hours after feeding. When bred to mice that express tissue-specific Cre recombinase, resulting offspring will have exon 6 deleted in the cre-expressing tissues. This strain may be useful for studying mTOR-dependent regulation of ketogenesis and other cellular processes in response to feeding and fasting. | ||
| 005622 | B6.Cg-Shhtm1(EGFP/cre)Cjt/J | Repository- Live |
| This strain expresses a fusion product involving Enhanced Green Fluorescent Protein (EGFP) and Cre recombinase from the endogenous Shh locus. EGFP and cre expression are consistent with the endogenous gene. Fluorescence is detected in the distal posterior region of the limb buds of embryos aged embryonic day 10 to 12 and colocalizes with the endogenous gene product (mRNA).
The donating investigator reports that it is not uncommon for a mosaic expression pattern to be exhibited when the allele is inherited through the female germline. It is recommended that this allele be passed through the male germline when conducting experiments involving cre-induced recombination. Mice homozygous for the mutation develop a limited limb skeleton and lack digit 2. Homozygous mice are not viable or fertile. Heterozygous mutant mice are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities.
This mutant mouse strain may be useful in studie ..... For more information please see the full phenotype on the strain data sheet | ||
| 007963 | B6.Cg-Smn1tm2Mrph/J | Repository- Live |
| This strain functions as a reporter strain for Smn1 (survival motor neuron 1) in the heterozygous state. Exons 1 through 8 of the mouse Smn1 gene (12.8 kb) were replaced with lacZ and an FRT site remaining from the deletion of a selection marker. This allele is a functional null and homozygous animals are embryonic lethal. Importation of this model was supported by the Spinal Muscular Atrophy Foundation. | ||
| 007966 | B6.Cg-Smn1tm3(SMN2/Smn1)Mrph/J | Repository- Live |
| This allele is a functional null in the non-recombined state and homozygous animals are embryonic lethal. This allele is engineered to revert to a fully functional Smn1 allele upon Cre-mediated recombination. This mutant mouse strain may be useful in studies of Spinal Muscular Atrophy. Importation of this model was supported by the Spinal Muscular Atrophy Foundation. | ||
| 005359 | B6.Cg-Tg(Camk2a-cre)T29-1Stl/J | Repository- Live |
| Mice homozygous for the transgenic insert are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. These transgenic mice express the Cre recombinase under the control of the mouse calcium/calmodulin-dependent protein kinase II alpha promoter. Cre recombinase expression is detected in the forebrain, specifically to the CA1 pyramidal cell layer in the hippocampus. When crossed with a strain containing loxP site flanked sequence of interest, Cre-mediated recombination occurs in the pyramidal cell layer.
View cre expression characterization. | ||
| 006137 | B6.Cg-Tg(Cdh5-cre)7Mlia/J | Repository- Live |
| Hemizygotes are viable, fertile, normal in size, and do not display any gross physical or behavioral abnormalities. In the differentiated endothelium transgene expression is observed as early as E7.5 and progresses to almost full penetrance by E14.5. In adult mice, uniform cre expression is observed in the endothelium of developing and quiescent vessels of all organs examined, as well as within a subset of hematopoietic cells. When bred with any mouse containing a loxP-flanked sequence of interest, Cre-mediated recombination will result in deletion of the flanked genome. These mice may be useful in studies of the cardiovascular system, including angiogenesis, and endothelial and hematopoietic cell lineages.
These mice exhibit less efficient cre-mediated recombination than B6.Cg-Tg(Cdh5-cre)1Spe/J mice (Stock No. 017968), in which cre activity is seen in 85% of the fetal liver population and 96% of ..... | ||
| 012886 | B6.Cg-Tg(Gfap-cre)73.12Mvs/J | Repository- Live |
| Mice hemizygous for the Gfap-cre transgene are viable and fertile, with a mouse glial fibrillary acidic protein (mGfap) promoter sequence directing expression of a Cre-recombinase. Specifically, Cre recombinase activity (as defined by expression of loxP-STOP flanked reporter gene) is targeted to most astrocytes throughout healthy brain and spinal cord tissues and to essentially all astrocytes following Central Nervous System (CNS) injury. Cre recombinase activity is observed in essentially all adult neural stem cells and their progeny in the hippocampal dentate gyrus and subventricular zone. In addition, some hippocampal pyramidal neurons and cerebellar granule neurons (less than 5%) and scattered neurons in the midbrain (less than 0.5%) also exhibit activity due to radial cell progenitors that begin to express Gfap at later developmental stages in post-natal mice when the last-born neurons are generated. Mice hemizygous for the Gfap-cre transgene are viable and fertile.
..... For more information please see the full phenotype on the strain data sheet | ||
| 012887 | B6.Cg-Tg(Gfap-cre)77.6Mvs/J | Repository- Live |
| Mice hemizygous for the Gfap-cre transgene are viable and fertile, with a mouse glial fibrillary acidic protein (mGfap) promoter sequence directing expression of a Cre-recombinase. Specifically, Cre recombinase activity (as defined by expression of loxP-STOP flanked reporter gene) is targeted to most astrocytes throughout the healthy brain and spinal cord and to essentially all astrocytes after Central Nervous System (CNS) injury. Cre recombinase activity is also targeted to a subpopulation of the adult stems in the subventricular zone. In contrast to GFAP-Cre line 73.12 , there is no targeting of postnatal or adult neural stem cells or their progeny in the hippocampus or other brain regions in GFAP-Cre line 77.6, rendering these mice particularly useful for selective targeting of astrocytes. When these transgenic mice are bred with mice containing a loxP-flanked sequence, Cre-mediated recombination is expected to result in deletion of the floxed sequences in the Cre recombina ..... For more information please see the full phenotype on the strain data sheet | ||
| 006471 | B6.Cg-Tg(HDexon1)61Gpb/J | Repository- Live |
| Mice have been generated that are transgenic for the 5' end of the human HD gene carrying (CAG)115-(CAG)150 repeat expansions. In this founder line (61Gpb), as well as another similar line (62Gpb, see Stock No. 006494), the transgene is ubiquitously expressed. Transgenic mice exhibit a progressive neurological phenotype that mimics many of the features of HD, including choreiform-like movements, involuntary stereotypic movements, tremor, and epileptic seizures, as well as nonmovement disorder components, including unusual vocalization. They urinate frequently and exhibit loss of body weight and muscle bulk through the course of the disease. Neurologically they develop Neuronal Intranuclear Inclusions (NII) which contain both the huntingtin and ubiquitin proteins. These NII have also been identified in human HD patients. The age of onset of HD symptoms is reported to occur between 15 and 21 weeks for this 61Gpb line. These HDexon1 ..... For more information please see the full phenotype on the strain data sheet | ||
| 012467 | B6.Cg-Tg(Lrrk2*G2019S)2Yue/J | Repository- Live |
| Mice hemizygous for the BAC FLAG-Lrrk2-G2019S transgene are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. These mice express a mutant form of mouse leucine-rich repeat kinase 2 (Lrrk2-G2019S) associated with autosomal dominant, late-onset Parkinson's disease directed by the endogenous Lrrk2 promoter/enhancer regions on the BAC transgene. These BAC FLAG-Lrrk2-G2019S mice "overexpress" the mouse LRRK2-G2019S mutant protein in cerebral cortex, striatum, substantia nigra, internal capsule, and hippocampus at an approximately 6-8 fold greater level than endogenous mouse Lrrk2. These mice have reduced striatal dopamine content and may be useful for studying Parkinson's disease pathogenesis and neurodegeneration elicited by the dominant toxic effects of mutant LRRK2-G2019S expression. | ||
| 007742 | B6.Cg-Tg(Myh11-cre,-EGFP)2Mik/J | Repository- Live |
| Mice hemizygous for the smMHC/Cre/eGFP transgene (smMHCCre/eGFP) are viable and fertile, with the smooth muscle myosin heavy chain (smMHC or Myh11) promoter directing bicistronic Cre and EGFP protein expression to smooth muscle cells during development as well as in the adult mouse. Hemizygotes from founder line SMCG2 (SM2Cre/GFP) display intense EGFP fluorescence restricted to vascular and nonvascular smooth muscle, with strong concordance between cre expression and EGFP fluorescence (verifying the use of fluorescence as a marker for conditional gene recombination). When bred with mice containing a loxP-flanked sequence of interest, the resulting offspring can have Cre-mediated recombination of the flanked sequence in smooth muscle. Homozygotes are viable and fertile, with smaller litter sizes and a higher incidence of perinatal mortality. These smMHC/Cre/eGFP transgenic mice may be useful in studies utilizing "Cre-lox" technology or fluoresc ..... For more information please see the full phenotype on the strain data sheet | ||
| 003771 | B6.Cg-Tg(Nes-cre)1Kln/J | Repository- Live |
| These transgenic mice express Cre recombinase under the control of the rat nestin promoter and enhancer. Mice that are hemizygous for the transgenic insert are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. Initial studies utilizing a reporter strain carrying a beta galactosidase transgene whose expression is dependent on Cre-mediated recombination indicate that cre is primarily expressed in the central and peripheral nervous system with a few isolated kidney and heart cells also expressing activity. The donating investigator indicates that Cre recombinase activity is present in nervous tissue by embryonic day 11. The transgene insertion location is on Chromosome 12, as determined by FISH analysis, view pdf.
View cre expression characterization. | ||
| 005584 | B6.Cg-Tg(Prrx1-cre)1Cjt/J | Repository- Live |
| Mice homozygous for the transgenic insert are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. These transgenic mice express Cre recombinase under the control of the paired related homeobox 1 promoter. Cre recombinase expression closely patterns endogenous gene expression and is detectable by embryonic day 9.5. Some recombination occurs in the female germline. When crossed with a strain containing a loxP site-flanked sequence of interest, Cre-mediated recombination results in deletion of the flanked sequence in early limb bud mesenchyme. This strain represents an effective tool for generating tissue specific-targeted mutants useful in studies of limb bud development and patterning.
View cre expression characterization. | ||
| 006235 | B6.Cg-Tg(SFTPC-rtTA)5Jaw/J | Repository- Live |
| Mice that are hemizygous for this transgenic insert are viable, fertile, normal in size, and do not display any gross physical or behavioral abnormalities. These transgenic mice express the reverse tetracycline-controlled transactivator (rtTA) protein under the control of the human SFTPC, surfactant, pulmonary-associated protein C, promoter. In situ hybridization detects rtTA gene product (mRNA) in lung peripheral epithelial cells from adult mice and 15 postconception day aged embryos from doxycycline treated dams. Induction of transgene expression is detected as early as postconception day 12.5 when the pregnant female is treated with doxycycline. When mated to a second transgenic strain carrying a gene of interest under the regulatory control of a tetracycline-responsive promoter element (tetO), expression of the target gene may be regulated by the tetracycline analog, doxycycline (dox); in the presence of dox, transcription of the target gene is induced in cells where rtTA is ..... For more information please see the full phenotype on the strain data sheet | ||
| 006361 | B6.Cg-Tg(Sp7-tTA,tetO-EGFP/cre)1Amc/J | Repository- Live |
| Mice hemizygous for this Osx1-GFP::Cre transgene are viable and fertile.
The transgene carries both tTA under the regulation of the osterix (Sp7) promoter and, just downstream, a tetracycline responsive element (TRE; tetO)-controlled GFP/Cre fusion protein. In the absence of the tetracycline analog doxycycline, EGFP-Cre fusion protein expression is restricted to the osteoblast lineage throughout embryonic and early postnatal development. Fusion protein activity is largely absent from chondrocytes. When these transgenic animals are mated to transgenic strains that carry loxP-flanked (floxed) conditional alleles, Cre-mediated recombination of the floxed allele in the double mutant animals is placed under the regulation of doxycycline (dox) such that dox adminstration prevents fusion protein expression and recombination. The donating investigator suggests that the mice be maintained on dox-treated water to avoid incidental effects of tTA expression (e.g., malocclusion). Th ..... For more information please see the full phenotype on the strain data sheet | ||
| 010905 | B6.Cg-Tg(Sry)2Ei Srydl1Rlb/ArnoJ | Repository- Live |
| The dl1Rlb allele (Y-) is an 11 kb deletion in the sex determining region of the Y chromosome, Sry , XY- mice (with ovaries) with this mutation are phenotypic gonadal females, although they lose germ cells and cease estrous cycling earlier in life. The donating investigator indicates that XY- mice generally infertile on the C57BL/6 background . XX mice carrying the Tg(Sry)2Ei transgene are phenotypic gonadal males (with testes), although they lack sperm and have smaller testes than normal males.
When the two mutations are combined, testis determination is transferred from the Y chromosome to an autosome. Mating the carrier male to a C57BL/6J female produces four "core" genotypes that can be used as a model to investigate relationships between sex chromosome complement (XX or XY) and gonadal type that influences phenotypic characteristics. The four genotypes produced are two types of gonadal females (XX, XY-), and two types ..... For more information please see the full phenotype on the strain data sheet | ||
| 000160 | B6.D2-KitlSl-d/J | Repository- Live |
| The multiple steel mutations (KitlSl) behave in a semidominant fashion and cause deficiencies in pigment cells, germ cells, and blood cells paralleling those caused by the Kit locus mutations (dominant spotting alleles). Most of the alleles at steel locus cause severe anemia in utero and death by 15 to 16 days of gestation in homozygous mutant mice. However, steel-Dickie homozygotes (KitlSl-d/KitlSl-d) and compounds of steel and steel Dickie (KitlSl/KitlSl-d) are viable, black-eyed white, are usually sterile in one or both sexes, and have severe macrocytic anemia. Heterozygous steel mice have a diluted coat color with a small amount of white spotting, are viable and fertile, and may have a slight macrocytic anemia. Primordial germ cells are absent in the nonviable steel homozygotes and severely reduced in steel Dickie and steel heterozygotes. Mast cells are virtually absent in skin and other tissu ..... For more information please see the full phenotype on the strain data sheet | ||
| 005657 | B6.FVB(129)-Tg(Myh6-cre/Esr1*)1Jmk/J | Repository- Live |
| The alpha-MHC-MerCreMer transgene has the mouse Myh6 promoter (myosin, heavy polypeptide 6, cardiac muscle, alpha; alpha-MHC) directing expression of a tamoxifen-inducible Cre recombinase (MerCreMer) to juvenile and adult cardiac myocytes. Mice homozygous for the alpha-MHC-MerCreMer transgene are viable, fertile, normal in size, and do not display any gross physical or behavioral abnormalities. Cre recombinase expression in heart tissue is confirmed by western blot. Southern blot confirmed heart cell specificity compared to brain, kidney, lung, liver, and skeletal muscle. Insertion of this transgene and its protein show no changes in echocardiography, heart mass or pathology, or hypertrophy marker genes compared to nontransgenic littermates. Of note, the MerCreMer double fusion protein has substantially greater Cre recombinase activity with less promiscuity compared with the CreMer single fusion protein. When alpha-MHC-MerCreMer transgenic mice are bred with mice containing For more information please see the full phenotype on the strain data sheet | ||
| 007084 | B6.FVB(Cg)-Mmp9tm1Tvu/J | Repository- Live |
| Mice that are homozygous null for the Mmp9 gene are viable and fertile. No Mmp9 activity is detected in spleen cell lysates. Long bones (tibia, femur) are 10% shorter in homozygous null mice. Histological examination of three-week-old mice reveals a dramatically lengthened zone of hypertrophic cartilage (six to eight times larger vs. wild-type) due to delayed apoptosis, vascularization, and ossification. Subsequent remodeling resolves the condition, resulting in normal appearing bones by eight weeks of age. Null mice show altered responses to repair of injury in skin, cornea, central nervous system and bone marrow reconstitution, and altered inflammatory responses.
In an attempt to offer alleles on well-characterized or multiple genetic backgrounds, alleles are frequently moved to a genetic background different from that on which an allele was first characterized. It should be noted that the phenotype could vary from that originally described. We will modify the strain de ..... | ||
| 013128 | B6129S-Del(7Slx1b-Sept1)4Aam/J | Repository- Live |
| These mutant mice possess an engineered deletion spanning approximately 0.39 Mb on mouse Chromosome 7. The region involved encompasses a chromosomal segment, between the GIY-YIG domain containing 2 (Giyd2) gene and the septin 1(Sept1) loci, that shares conserved synteny with the Autism spectrum disorders critical interval on human Chromosome 16 (the 16p11.2 region). Mice carrying one copy of the deletion prove to be viable while mice homozygous for the deletion are embryonic lethal. These mice exhibit neuroanatomical and behavioral phenotypes reminiscent of human autism. This mutant mouse may be useful in studying Autism and other associated disorders.
(Mice bearing the reciprocal duplication are also available (see Stock No. 013129)) | ||
| 010801 | B6129S-Tc(Hsa21)1TybEmcf/J | Repository- Live |
| Mice carrying a human fragment of Chromosome 21 (Hsa21) are viable, fertile, and normal in size, only the female carriers consistently transmits the mutation to the germline. When maintained on a background other than (C57BL/6 X 129S8/SvEv) germline transmission is completely abolished. These Tc1 mice contain 42Mb (approximately 83%) of a freely segregating Hsa21 containing 269 genes, including most of the gene orthologues located on mouse Chromosome 10 (Mmu10), Mm16, and Mmu17, which have been found to contribute to human Down Syndrome (DS). This mouse strain represents the most complete model of DS, exhibiting alterations in behavior, learning, memory, synaptic plasticity, cerebellar neuronal number, heart development, mandible size, defects in motor coordination, perturbed haematopoiesis, and reduced tumour angiogenesis. These mice may be useful for studying the genes involved in human chromosome aneuploidy and its role in DS. | ||
| 014125 | B6;129-Flnctm1Lmk/J | Repository- Live |
| The Flnc Δ41-48 mutant allele has the last eight exons (exons 41-48) of the filamin C (FLNc) locus deleted. The deleted region encodes the last five filamin-like repeats (including the dimerization domain) and the Hinge 2 domain of FLNc. As such, the Flnc Δ41-48 allele expresses a truncated mRNA at reduced levels compared to the wildtype allele in limb muscle and heart tissues. Western blot analysis on limb muscle protein lysates shows that the Flnc Δ41-48 allele expresses a truncated protein at very low levels. Heterozygous mice are viable and fertile with no reported abnormalities. Mice homozygous for the Flnc Δ41-48 allele die at birth. At embryonic day (E)18.5, homozygous mice born via Cesarean section are able to take several short breaths but exhibit respiratory distress (failure to inflate lungs) and die shortly thereafter. While the hearts of the homozygotes appear normal and unaffected, skeletal muscles exhibit severe abnor ..... For more information please see the full phenotype on the strain data sheet | ||
| 012824 | B6;129-Fzd6tm1Nat/J | Repository- Live |
| Homozygoos Fzd6 (frizzled homolog 6 (Drosophila)) targeted mutant mice have altered hair patterning. Instead of a parallel orientation of hair follicles on the body surface, these mice have a variety of whorls or tufts indicating a global mis-orientation of follicle patterning. The phenotype strongly resembles the wing-hair and bristle patterning defects observed in Drosophila frizzled. LacZ expression replaces that of the targeted gene in skin and hair follicles. | ||
| 012825 | B6;129-Fzd7tm1.1Nat/J | Repository- Live |
| Homozygous Fzd7 (frizzled homolog 7 (Drosophila)) targeted mutation mice have a small kink in the tail, most commonly found at the tip. Nuclear-localized lacZ expression replaces that of the targeted gene. This strain may be useful in further characterization of this receptor. | ||
| 004847 | B6;129-Gt(ROSA)26Sortm1(cre/ERT)Nat/J | Repository- Live |
| These R26CreER mutant mice have a tamoxifen-inducible Cre-mediated recombination system driven by the endogenous mouse Gt(ROSA)26Sor promoter. The mutant allele consists of a fusion product involving Cre recombinase and an altered version of the mouse estrogen receptor ligand binding domain. The mutant ligand binding domain does not bind natural ligand at physiological concentrations but will bind the synthetic ligand, 4-hydroxytamoxifen. Restricted to the cytoplasm, the CRE/ESR1 protein can only gain access to the nuclear compartment to mediate recombination after exposure to tamoxifen. Tamoxifen administration will also induce Cre recombination in the developing embryos of treated mothers. When crossed with a strain containing a loxP site-flanked sequence of interest, this mutant is useful for generating tamoxifen-induced, Cre-mediated targeted deletions. Homozygous mutant mice are viable, fertile, normal in size and do not display any gross physical or behavioral abnor ..... For more information please see the full phenotype on the strain data sheet | ||
| 013071 | B6;129-Hbatm1(HBA)Tow Hbbtm2(HBG1,HBB*)Tow/Hbbtm3(HBG1,HBB)Tow/J | Repository- Live |
| These mice may harbor several knockin mutations: 1) the Hbatm1(HBA)Tow mutation (also called hα ; designed with the human hemoglobin α gene replacing the endogenous mouse α-globin), as well as 2) the Hbbtm2(HBG1,HBB*)Tow mutation (also called -1400 γ-βS ; designed with the human hemoglobin gamma (Aγ) gene and the human sickle hemoglobin beta (βS) gene replacing the endogenous mouse major and minor β-globin), and/or 3) the Hbbtm3(HBG1,HBB)Tow mutation (also called -383 γ-βA ; designed with the human hemoglobin gamma (Aγ) gene and the human wildtype hemoglobin beta (βA) gene replacing the endogenous mouse major and minor β-globin). --Of note, these mice should not harbor any wildtype allele at the Hbb locus.--
Mice homozygous at the ..... | ||
| 004605 | B6;129-Itgb1tm1Efu/J | Repository- Live |
| These mice possess loxP sites on either side of exon 3 of the targeted gene. Mice that are homozygous for this allele are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities.
When bred to a strain expressing Cre recombinase in the epithelial cells of the intestine (see Stock No. 004586 for example), this mutant mouse strain may be useful in studies of intestinal hyperplasia. When bred to a strain expressing Cre recombinase in the podocytes of the kidney glomeruli (see Stock No. 008205 for example), this mutant mouse strain may be useful in studies of glomerular structural integrity. | ||
| 016209 | B6;129-Lrrk2tm2.1Shn/J | Repository- Live |
| Mice homozygous for the LRRK2 KO1 mutation are viable and fertile, with the promoter and exon 1 of the Lrrk2 (leucine-rich repeat kinase 2) gene deleted. No mRNA or protein expression from the targeted allele is observed in brain tissues, however and truncated mRNA signal is observed in kidney tissue. Homozygous mice do not exhibit neurodegeneration or neuropathological changes in the brain. In the kidneys, a tissue where LRRK2 is normally expressed at ~6-fold greater levels than brain, homozygous loss of LRRK2 results in renal atrophy by 20 months of age. This is accompanied by significant (~60-fold) age-dependent accumulation of aggregated α-synuclein and ubiquitinated proteins in the kidney. Specifically, homozygous KO kidneys show widely distributed cytosolic α-synuclein-immunoreactive granular aggregates (some amy also contain phospho-Ser-129 α-synuclein) or inclusions in boxy cells of renal tubules in the cortical area by 20 months of age. Other kidney ..... For more information please see the full phenotype on the strain data sheet | ||
| 016210 | B6;129-Lrrk2tm3.1Shn/J | Repository- Live |
| Mice homozygous for the LRRK2 KO2 mutation are viable and fertile, with exons 29-30 (encoding the first half of the Ras-like small GTPase domain) of the Lrrk2 (leucine-rich repeat kinase 2) gene deleted. No mRNA or protein expression from the targeted allele is observed in brain tissue, however some truncated mRNA is observed in kidney tissues. Homozygous mice do not exhibit neurodegeneration or neuropathological changes in the brain. In the kidneys, a tissue where LRRK2 is normally expressed at ~6-fold greater levels than brain, homozygous loss of LRRK2 results in renal atrophy by 20 months of age. This is accompanied by significant (~60-fold) age-dependent accumulation of aggregated α-synuclein and ubiquitinated proteins in the kidney. Specifically, homozygous KO kidneys show widely distributed cytosolic α-synuclein-immunoreactive granular aggregates (some of them may also contain phospho-Ser-129 α-synuclein) or inclusions in boxy cells of renal tubules in ..... For more information please see the full phenotype on the strain data sheet | ||
| 016194 | B6;129-Nrxn3tm4.1Sud/J | Repository- Live |
| 015825 | B6;129-Pak6tm1Amin Pak7tm1Amin/J | Repository- Live |
| In this strain, exons in the p21 protein (Cdc42/Rac)-activated kinase 6 (Pak6) and 7 (Pak7) genes are disrupted with neomycin resistance (neo) cassettes, abolishing expression of both genes. Homozygotes are viable, fertile, and normal in size. Pak6 and Pak7 are members of the group B family of PAK serine/threonine kinases and are coexpressed in the cortex, striatum, and hippocampus. Both genes alos play a role in neuronal growth and cell survival. These mice have impaired cognitive function and deficits in learning and memory retention. They display a lower level of activity and decreased level of aggression compared to wildtype littermates. These mice may be useful for studying learning, memory, and locomotion. | ||
| 005549 | B6;129-Pax3tm1(cre)Joe/J | Repository- Live |
| This strain expresses Cre recombinase from the endogenous Pax3 locus. Expression of the targeted gene product (mRNA and protein) mimics endogenous gene expression as detected by in situ hybridization and immunohistochemistry of homozygous embryos aged E12.5. No endogenous Pax3 gene product (protein) is detected in homozygotes and approximately one half of the endogenous gene product (protein) is detected in heterozygotes by Western blot analysis. Cre recombinase expression is detected in the dorsal neural tube and somites of E9 to 11.5 embryos and in the cardiac neural crest cells and colonic epithelia of E11.5 embryos. Recombination occurs in neural crest and somite derivatives of later gestation embryos. Homozygous mice have an embryonic lethal phenotype, failing to develop past embryonic day 18.5. At age E13.5 homozygous embryos display severe cardiac and neural tube defects (exencephaly), absent limb musculature and reduced or absent dorsal root ganglia. Heterozygous ..... For more information please see the full phenotype on the strain data sheet | ||
| 004293 | B6;129-Shhtm2Amc/J | Repository- Live |
| Mice that are homozygous for the Shhtm2Amc targeted mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. This conditional mutant contains two loxP sites flanking exon 2 of the targeted allele. Cre-mediated recombination excises exon 2 and some surrounding intronic sequence, generating a null allele. When the conditional mutant is crossed with a ubiquitously-expressing Cre recombinase carrier to remove Shh activity in the early embryo, the resulting phenotype resembles the Shh null mutation. These conditional mutant mice may be mated to strains expressing Cre recombinase to study the effects of temporal and tissue-specific ablation of the targeted allele. This mutant mouse strain represents a model that may be useful in studies of developmental defects resulting from disruption of Shh-dependent pathways.
When bred to a strain expressing Cre recombinase under the control of a tet ..... | ||
| 013598 | B6;129-Tcf4tm1Zhu/J | Repository- Live |
| A targeting vector was designed to replace the C-terminus DNA-binding domain of transcription factor 4 (Tcf4 or E2-2) gene with a neomycin (neo) selection cassette. Homozygotes are born at a low frequency and die within the first week of life. E2-2 is a widely expressed E2A-related helix-loop-helix (HLH) protein required for the generation of normal numbers of pro-B cells in mouse embryos. While homozygous E2-2 mutant embryos are capable of making B cells, they produce only half as many as wildtype. When crossed to mice containing a (Atoh1)-lacZ transgene, β-galactosidase staining is evident in anterior extramural migratory stream (AES) cells which accumulate in the region lateral to the pontine nucleus. The resulting mice exhibit a reduction in size of the pontine nucleus and a lack of migration of neuronal precursors to the region of the pontine nucleus. Mice heterozygous for the mutation are viable, fertile, and normal in size. This strain may be ..... For more information please see the full phenotype on the strain data sheet | ||
| 015854 | B6;129P2-Foxl2tm1(GFP/cre/ERT2)Pzg/J | Repository- Live |
| These Fox L2-GCE knock in mice utilize a tamoxifen inducible Cre-mediated recombination system. A GFP-Cre/ERT2 cassette (GCE) was inserted into the Foxl2, forkhead box L2, locus. No green fluorescence was detected by direct fluorescence microscopy, however, immunohistochemical analysis revealed GFP expression in embryos, 15.5 embronic days of age. Tamoxifen administration induces Cre recombination in a small population of granulosa precursor cells in the medulla of the developing ovary of embryos, 15.5 embronic days of age. Mice that are heterozygous for the targeted mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. The Donating Investigator has not attempted to make the strain homozygous. This strain was transferred from the collection of the GenitoUrinary Development Molecular Anatomy Project (GUDMAP). | ||
| 010619 | B6;129S1-Lfngtm1Grid/J | Repository- Live |
| Mice that are heterozygous for the targeted mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. At birth, homozygotes exhibit shortened trunk and tails. Severely affected homozygotes soon die due to respiratory difficulties related to malformed rib cages. Less severely affected homozygotes survive into adulthood. By age embryonic day 8.5, homozygotes exhibit defective somite formation, with indistinct boundaries and irregular shape and size. Vertebral column formation is disrupted, and ribs are bifurcated and fused. Although sclerotome cells condense, the metameric pattern is not maintained. Fusions in the dorsal root ganglia and axonal patterning defects are revealed by histological analysis. | ||
| 010547 | B6;129S1-Notch3tm1Grid/J | Repository- Live |
| Mice that are homozygous for the targeted mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. No gene product (mRNA or protein) is detected by Northern blot analysis of brain, lung and heart tissue or Western blot analysis of lung and brain tissue from homozygotes. Homozygotes exhibit disorganized artery wall morphology, and thin vascular smooth muscle cell coat and processes. | ||
| 010544 | B6;129S1-Notch4tm1Grid/J | Repository- Live |
| Mice that are homozygous for the targeted mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. No gene product (mRNA) is detected by RT-PCR analysis of lung and kidney tissue from homozygous adult animals, and in situ hybridization of homozygous embryos. Homozygotes exhibit a slightly elevated systolic blood pressure. | ||
| 010722 | B6;129S1-Snai2tm2Grid/J | Repository- Live |
| Mice that are homozygous for the targeted mutation are viable, subfertile, and are smaller in size than wildtype controls. Homozygotes have diluted coat color and areas of depigmentation, sometimes exhibiting white forehead blaze and spots on tails and feet. From birth to weaning age (approximately 3 weeks), homozygotes exhibit slowed growth rate and by 3 weeks of age weigh approximately 70% of wildtype control. After weaning, mutant growth rates are similar to wildtype, but mutants remain small in size. Homozygous adults develop eye infections (suppurative conjunctivitis and blepharitis). Homozygous males have reduced testes size due to reduced seminiferous tubules and are slightly subfertile, producing smaller litters sizes. Approximately 15% of homozygous males are infertile. Spermatogenesis is normal, however, in fertile homozygotes. Homozygotes exhibit macrocytic anemia, decreased hematocrit and leukocyte numbers. T cell differentiation is impaired and thymus size is dimi ..... For more information please see the full phenotype on the strain data sheet | ||
| 004669 | B6;129S2-Itgb3tm1Hyn/J | Repository- Live |
| Mice that are homozygous for this targeted allele are viable and fertile. No gene product (protein) is detected on the surface of platelets. Significant (50%) embryonic lethality attributed to fetal hemorrhaging and placental defects is observed. Until three weeks of age, additional pup loss may occur due to hemorrhaging in the skin and gastrointestinal tract. Gastrointestinal tract bleeding is commonly observed in adults and is frequently associated with an enlarged spleen. Erythrocyte number, hemoglobin, hematocrits and thrombus formation are all reduced while bleeding time is prolonged. Varying degrees of liver and kidney necrosis are also observed. Although increased numbers of osteoclasts are observed (3.5 fold over that seen in heterozygotes) they appear to be dysfunctional, having a reduced ability to resorb whale dentin in vitro. Mice are osteosclerotic and hypocalcemic. Enhanced tumor angiogenesis and vascular endothelial growth factor-induced blood vessel growth are observed. ..... For more information please see the full phenotype on the strain data sheet | ||
| 009358 | B6;129S2-Lats1tm1Tx/J | Repository- Live |
| Homozygous animals exhibit a lack of mammary gland development, infertility and growth retardation. Accompanying these defects are hyperplastic changes in the pituitary and decreased serum hormone levels. The reproductive hormone defects of homozygotes are reminiscent of isolated luteinizing hormone (LH)-hypogonadotropic hypogonadism and corpus luteum insufficiency in humans. Furthermore, Homozygous mice develop soft tissue sarcomas (some by 4-10 months of age) and ovarian stromal cell tumors (by 3 months of age) and are highly sensitive to carcinogenic treatments. Data demonstrates a role for this gene in mammalian tumorigenesis and specific endocrine dysfunction. | ||
| 003641 | B6;129S4-C3tm1Crr/J | Repository- Live |
| Mice homozygous for the C3 (complement component C3) targeted mutation are viable and fertile. Homozygous mutants exhibit an increased susceptibility to lethal infection by Group B streptococci. Reductions in peritoneal mast cell degranulation, production of tumor necrosis factor alpha, neutrophil infiltration and bacterial clearance have also been reported in these mice. Homozygotes also demonstrate a profound defect in antibody response to T cell dependent antigens. They show a diminished level of peanut agglutin+ germinal centers and a failure in isotype switching despite normal B cell signalling in vitro. | ||
| 012463 | B6;129S4-Foxd1tm1(GFP/cre)Amc/J | Repository- Live |
| Heterozygous mice are viable and fertile, normal in size and do not display any gross physical or behavioral abnormalities. The DI states that the strain is homozygous lethal. The FoxD1GC allele expresses an eGFPCre fusion protein (EGFP and cre fusion protein) from the Foxd1 promoter/enhancer elements. When Foxd1 is induced, EGFP immunofluorescence is observed during kidney development in metanephric mesenchyme in cells fated to become stromal cells of the kidney. When FoxD1GC mice are bred with mice containing loxP-flanked sequence, Cre-mediated recombination will result in deletion of the floxed sequences in the Foxd1-expressing cells of the offspring. These mice may be useful for studying therapeutic strategies directly targeting pericyte differentiation in vivo and may productively impact fibrotic kidney disease. | ||
| 012464 | B6;129S4-Foxd1tm2(GFP/cre/ERT2)Amc/J | Repository- Live |
| Heterozygous mice are viable and fertile, normal in size and do not display any gross physical or behavioral abnormalities. The DI states that the strain is homozygous lethal. The Foxd1GCE allele expresses an eGFPCreERT2 fusion protein (EGFP and creERT2 fusion protein) from the Foxd1 promoter/enhancer elements. Foxd1 is induced, and EGFP immunofluorescence is observed, during kidney development in metanephric mesenchyme in cells fated to become stromal cells of the kidney. Cre-ERT2 fusion gene activity is inducible; observed in the same cells only following tamoxifen administration. When Foxd1GCE mice are bred with mice containing loxP-flanked sequence, tamoxifen-inducible, Cre-mediated recombination will result in deletion of the floxed sequences in the FoxD1-expressing cells of the offspring. These mice may be useful for studying therapeutic strategies directly targeting pericyte differen ..... For more information please see the full phenotype on the strain data sheet | ||
| 017337 | B6;129S4-Mirc5tm1Jae/J | Repository- Live |
| Approximately 75% of homozygotes die before birth of unknown causes. The surviving homozygous females are sterile. Mice that are heterozygous for the targeted mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. No gene product (mRNA) is detected by Northern blot or real-time RT-PCR analysis of homozygous knockout ES cells lines produced from mutant mice. Homozygous embryos exhibit development delays as early as embryonic day 8.5, and loss of homozygous embryos occurs E11.5 to E18.5. Approximately 16% of homozygous embryos, at E10.5 or younger, are partially or completely outside the yolk sac. Embryonic primordial germ cell migration is mislocalized. A reduced number of gonocytes/germ cells in homozygotes is detectable as early as E11.5. Homozygous adult females have smaller size ovaries when compared to wildtype littermates. Ovaries from 5 to 8 week old homozygotes have few follicles, and in ovaries from homozygous fem ..... For more information please see the full phenotype on the strain data sheet | ||
| 012865 | B6;129S6-Apbb1tm1Her/J | Repository- Live |
| The FE65 knockout allele has a nuclear localized-lacZ replacing exon 2 of the Apbb1 gene. No protein expression is detected from the mutant locus, and the donating investigator reports that whether lacZ staining faithfully reflects FE65 expression has not been conclusively resolved. Homozygous (FE65-/-) mice are viable, fertile, and indistinguishable from wildtype littermates. Histological examination of adult brains shows no obvious neuroanatomical abnormalities. These FE65 mutant mice may be useful in studying brain development (neuronal positioning and establishment of axonal projections) and abnormal brain morphology (Cobblestone Lissencephaly, marginal zone heterotopias, and pial basement membrane integrity); as well as the function of FE65 family proteins in amyloid precursor protein (APP) processing, Alzheimer's disease, and neuronal protein trafficking.
For example, mice homozygous for both this FE65 knockout allele and the FE65L1 knockout allele (see S ..... | ||
| 012869 | B6;129S6-Apbb2tm1Her/J | Repository- Live |
| The FE65L1 knockout allele has a tau-lacZ fusion protein replacing exon 4 of the Apbb2 gene. No protein expression is detected from the mutant locus, and the donating investigator reports that whether lacZ staining faithfully reflects FE65L1 expression has not been conclusively resolved. Homozygous (FE65L1-/-) mice are viable, fertile, and indistinguishable from wildtype littermates. Histological examination of adult brains shows no obvious neuroanatomical abnormalities. These FE65L1 mutant mice may be useful in studying brain development (neuronal positioning and establishment of axonal projections) and abnormal brain morphology (Cobblestone Lissencephaly, marginal zone heterotopias, and pial basement membrane integrity); as well as the function of FE65 family proteins in amyloid precursor protein (APP) processing, Alzheimer's disease, and neuronal protein trafficking.
For example, mice homozygous for both this FE65L1 knockout allele and the FE65 knockout alle ..... | ||
| 013157 | B6;129S6-Lrp4tm1Her/J | Repository- Live |
| The Lrp4 hypomorphic allele (Lrp4ECD, Lrp4 EC STOP, Lrp4hypo, Megf7-, Lrp4STOP1723) contains a premature stop codon within the exon immediately upstream of the transmembrane segment. Much of the targeted exon and 3' adjacent intron is absent. No functional full-length transcripts are detected in brain tissue. The transcript generated is out of frame beyond the sequences coding for the transmembrane segment, which results in a truncated protein with loss of the transmembrane and intracellular domains of the LRP4 protein. While the LRP4 extracellular domain (ECD) is expressed normally, the lack of a membrane anchor leads to shedding/secretion of the ECD into the extracellular space. This results in diminished, but not completely absent, LRP4 interactions with its extracellular ligands (i.e., hypomorphic phenotype). Mice homozygous for this Lrp4 hypomorphic allele are viable and fertile. Homozygous mice exhibit growth retardation, fully penetrant polysyndactyly wi ..... For more information please see the full phenotype on the strain data sheet | ||
| 013038 | B6;129S7-Smad5tm1Zuk/J | Repository- Live |
| In this strain, the allele replaces exon 2 of the endogenous MAD homolog 5 (Smad5) gene with a PGK-hprt selection cassette, abolishing gene function. Mice homozygous for the Smad5 allele have an embryonic lethal phenotype and do not survive past E11.5. Heterozygous mice are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. Homozygous embryos lack ectopic vasculogenesis and hematopoiesis in the amnion, lack both a foregut pocket and entrance to the hindgut diverticulum, and are absent of primordial germ cells. The allantois is fused to the chorion and is not elongated. These embryos also exhibit a defect in heart looping and embryonic turning associated with Left-right asymmetry. At later stages, mutant embryos have craniofacial and neural tube abnormalities, are edematous, and after E9.0 the yolk sacs contain red blood cells but still lack well organized vasculature. These mice may be useful for studying ventrolateral morpho ..... For more information please see the full phenotype on the strain data sheet | ||
| 004758 | B6;129S7-Wnt5atm1Amc/J | Repository- Live |
| Homozygous null mice have a perinatal lethal phenotype and do not survive long after birth due to respiratory failure. Mice that are heterozygous for the targeted mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. No gene product (protein) is detected by immunohistochemical analysis in homozygotes. Homozygous 17.5 to 18.5 embryonic day old embryos exhibit severe shortening in all outgrowing axes of the body and limbs with loss of distal structures (absence of tail, limb digits and genital tubercle), and truncated facial features. Newborn homozygous mice succumb to asphyxia due to abnormal lung development and display shortened trachea, overexpansion of the distal airways and impaired capillary/alveolar coupling. This mutant mouse strain may be useful in studies of distal outgrowth of internal organs and organization of morphogenesis in development. | ||
| 002717 | B6;C-Cntn1m1J/GrsrJ | Repository- Live |
| Mice homozygous for the Cntn1m1J mutation are smaller than their wild-type littermates by 4 to 7 days of age, and appear emaciated by 2 weeks of age. They are ataxic, most die by 18 to 20 days of age, and all die by 30 days of age. Histological assessment found normal neuromuscular junctions, normal Purkinje cell dendritic arborization, and no morphological anomalies in brain. The twitch and titanic force generated by excised extensor digitorum longus muscles was found to be normal when normalized for the muscle weight of these smaller mutants. Necropsies showed pale livers, little food in the stomachs, and gas bubbles in the intestines. | ||
| 000231 | B6;C3Fe a/a-Csf1op/J | Repository- Live |
| Mice homozygous for the osteopetrosis spontaneous mutation (Csf1op) are viable and exhibit osteopetrosis. The osteoclasts are the primary cell type affected in homozygous mutant mice. This results in a generalized macrophage deficiency, monocytopenia, and defective bone remodeling. Homozygous mutant mice also have abnormal calcium regulation, impaired dental growth and female mice fail to lactate. Total leukocyte counts are reduced and marrow cells are decreased to one-tenth of normal control mice. Homozygous mutant mice have a deficient microglia and macrophage response, and therefore may be useful tools to study the role of glia in neurological disease if mated to transgenic models of neurodegenerative disease. | ||
| 012705 | B6;CBA-Tg(ATXN3*)84.2Cce/IbezJ | Repository- Live |
| MJD84.2 transgenic mice (also called SCA3-YAC-84Q transgenic mice) are viable and fertile. These mice harbor a YAC transgene that expresses a human ataxin 3 (ATXN3; also called Machado-Joseph disease (MJD), MJD1, or spinocerebellar ataxia 3 (SCA3)) gene modified with an expanded 84 CAG repeat motif that is associated with MJD/SCA3 in humans. Hemizygous mice (MJD84.2) harbor two copies of the transgene at a single genomic integration site, with transgene expression levels and patterns almost identical to endogenous MJD. Transgene expression is widespread (detected in the cerebellum, cerebral cortex, heart, lung, spleen, liver, and skeletal muscle). Stable transmission of the MJD1/CAG84 transgene has been demonstrated for multiple generations with a predicted frequency of about 50%. Hemizygous mice exhibit attenuated weight gain and a progressive neurological phenotype. The neurological phenotype is characterized by prominent gait abnormalities (~ 4 weeks), mild tremor, moderate ..... For more information please see the full phenotype on the strain data sheet | ||
| 004654 | B6;CBA-Tg(Pou5f1-EGFP)2Mnn/J | Repository- Live |
| Mice homozygous for the transgenic insert are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. These transgenic mice express Enhanced Green Fluorescent Protein under the control of the POU domain, class 5, transcription factor 1, promoter and distal enhancer. Primordial germ cell specific markers, alkaline phosphatase II and stage-specific embryonic antigen, are co-expressed in EGFP positive cells. 9.5 and 10.5 dpc (days post-coitum) migratory primordial germ cells from hemizygotes and homozygotes can be sorted and isolated by flow cytometry. This strain represents an effective tool for studying genetic imprinting and early embryonic development. | ||
| 015853 | B6;DBA-Tg(Cited1-TagRFP)26Amc/J | Repository- Live |
| These transgenic mice express the Tag-RFPT variant of Red Fluorescent Protein under the direction of the mouse Cited1, Cbp/p300-interacting transactivator with Glu/Asp-rich carboxy-terminal domain 1, promoter. TagRFP is the optimized monomeric derivative of the tetrameric eqFP578 from the sea anemone, Entacmaea quadricolor.
RFP fluorescence is detected in the cap mesenchyme in the kidney and the male reproductive systems of hemizygous embryos, 15.5 embryonic days of age. Immunohistochemical analysis reveals that the TagRFP-T transgene is expressed in the expected Cited1 expression domain. Other possible sites of expression have not been characterized. Mice that are hemizygous for the knock in allele are viable, fertile, normal in size and do not display physical or behavioral abnormalities.
This strain was transferred from the collection of the GenitoUrinary Development Molecular Anatomy Project (GUDMAP). | ||
| 015855 | B6;DBA-Tg(Upk3a-GFP/cre/ERT2)26Amc/J | Repository- Live |
| These transgenic mice express the eGFPCreERT2 (Enhanced Green Fluorescent Protein and cre/ESR1) fusion gene under the direction of the mouse Upk3a, uroplakin 3A, promoter. Transgene expression is detected in the bladder urothelium and ureters of embryos, 15.5 embryonic days of age. Tamoxifen induced Cre recombinase activity is detected in the bladder of neonatal hemizygotes. GFP fluorescence is detected in cells lining the bladder lumen from embryos, 15.5 embryonic days of age. Mice that are hemizygous for the transgene are viable, fertile, normal in size and do not display physical or behavioral abnormalities.
This strain was transferred from the collection of the GenitoUrinary Development Molecular Anatomy Project (GUDMAP). | ||
| 012944 | B6;SJL-Il6ratm1.1Drew/J | Repository- Live |
| These Il6rafl/fl mutant mice possess loxP sites flanking exons 4-6 of the interleukin 6 receptor alpha chain (Il6ra) gene. Mice that are homozygous for this allele are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. When bred to mice that express tissue-specific Cre recombinase, resulting offspring lack detectable Il6ra in the cre-expressing tissues. This strain may be useful for studying the role of Il6 in immune response, re-epithelialization, angiogenesis, macrophage infiltration, and wound healing.
For example, when bred to a strain expressing Cre recombinase in the myeloid cell lineage (see Stock No. 004781 for example), this mutant mouse strain may be useful in studies of inflammation and wound healing. When bred to a strain expressing Cre recombinase in liver (see Stock No. For more information please see the full phenotype on the strain data sheet | ||
| 013094 | B6;SJL-Tg(Sox10-cre)507Mcln/J | Repository- Live |
| Mice hemizygous for the S4F:cre transgene are viable and fertile, containing the SRY-box containing gene 10 (Sox10) promoter and a c-Fos minimal promoter sequence directing expression of Cre recombinase predominantly to neural crest derived cells. Specifically, Cre recombinase expression is observed in craniofacial skeletal components, sympathetic and parasympathetic neuronal/glial populations as well as epidermal melanocyte precursors. Expression is also evident in non-neural crest derived tissues including oligodendrocytes and the ventral neural tube. When these transgenic mice are bred with mice containing a loxP-flanked sequence, Cre-mediated recombination is expected to result in deletion of the floxed sequences in the Cre recombinase-expressing tissues of the offspring. These mice may be important for lineage tracing, gene function characterization, and genome manipulations. | ||
| 003627 | B6C3-Tg(HD82Gln)81Dbo/J | Repository- Live |
| Mice expressing this transgene appear normal at birth through 1-2 months. Mice fail to gain weight, develop tremors, hypokinesis and lack coordination. They exhibit an abnormal gait and frequent hind limb clasping. Life expectancy is 5-6 months. Studies using huntingtin antibodies indicated numerous immunoreactive nuclear inclusions in multiple neuron populations. Neuritic damage is evident. | ||
| 001815 | B6C3Fe a/a-Col1a2oim/J | Repository- Live |
| 000314 | B6CBACa Aw-J/A-EdaTa/J-XO | Repository- Live |
| XO or monsomy X mice lack a second sex chromosome. The condition is inherited as an X-linked dominant trait with male lethality. XO mice exhibit some degree of growth retardation, high frequency hearing loss, reduced thyroid activity, reduced body temperature and some behavioral abnormalities. Unlike Turner Syndrome in humans, XO females are fertile. The two-step mating system for this strain (described under Mating System) incorporates the X-linked coat color marker tabby so that mice can be identified by a combination of coat color and sex. This strain may be useful for studies of Turner Syndrome or X-linked recessive alleles. | ||
| 000501 | B6CBACa Aw-J/A-Aifm1Hq/J | Repository- Live |
| Harlequin mice exhibit paucity of fur resulting in near baldness in hemizygous males and homozygous females. Heterozygous females have a patchy absence of hair that is not always obvious, since the degree of hair loss is notably less than 50%. Homozygotes and hemizygous males weigh less than heterozygous or wild type controls. Ataxia is noticeable by 5 months and progresses as the mice age. Initially the ataxia manifests itself as a side-to-side, unsteady gait with a lateral tremor visible at rest. A delayed cerebellar cortical atrophy has been characterized in these mutants, with an apoptotic loss of granule cells beginning at 4 months of age and a necrotic loss of Purkinje cells occurring subsequently. The granule cells re-enter the cell cycle, but the Purkinje cells do not, supporting the postulate that inappropriate cell cycle re-entry of terminally differentiated neurons can induce apoptosis. Cell loss is greater in the caudal lobules of the cerebellum and is extensive by 9 to 11 ..... For more information please see the full phenotype on the strain data sheet | ||
| 000391 | B6EiC3Sn a/A-Pax6Sey-Dey/J | Repository- Live |
| Mice homozygous for the spontaneous semidominant Dickie's small eye mutation(Pax6Sey-Dey) die during embryogenesis. Heterozygous mutant mice are characterized by an overall small body size, small eyes with coloboma, small or lacking lens with cataract, abnormal folding of the retina and reduction of the pigment layer. The anterior chamber is usually missing. Mutations in the Pax6 gene lead to an impairment of axonal growth and differentiation, and delay migration of preneuronal cells. Optic nerve cross-sectional area and fiber count are decreased in these mutant mice, but probably indirectly as a consequence of reduced neural retina size. Formation of lens and of nasal cavity placodes are dependent on normal Pax6 expression. | ||
| 012457 | B6N.129-Ptch1tm1Hahn/J | Repository- Live |
| These Ptchflox mutant mice possess loxP sites flanking exons 8-9 of the targeted gene. Mice that are homozygous for this allele are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. When these mutant mice are bred to mice that express Cre recombinase, resulting offspring will have exons 8-9 deleted in the cre-expressing tissue. The donating investigator reports that the frt-flanked neo cassette is still present downstream of the floxed exon that the presence of neo does not convey any abnormalities. This strain may be useful for studying Hedgehog/Patched signaling, cell-fate determination during embryogenesis, cell growth and differentiation, and development of T- and B-lymphoid lineages, hematopoietic stem cell diversification. | ||
| 016556 | B6N.129-Ptpn5tm1Pjlo/J | Repository- Live |
| In this STEP KO strain, a neo cassette replaces the catalytic site of the protein tyrosine phosphatase, non-receptor type 5 (Ptpn5) gene, abolishing gene expression. Homozygotes are viable, fertile, and normal in size. Striatal enriched protein phosphatase (STEP) is a neuron-specific tyrosine phosphatase which regulates synaptic plasticity following glutamatergic and dopaminergic input. Expressed mainly in the striatum, hippocampus, amygdala, and cortex of the brain, glutamate-activated STEP controls synaptic plasticity through limiting the duration of ERK 1/2 MAP kinase activity and by endocytosis of glutamate receptors. Activation of ERK1/2 in STEP-expressing regions of the brain is required for memory formation and learning. STEP levels are also shown to be increased in prefrontal cortex of Alzheimer's Disease (AD) models. Homozygous STEP KO mice lack expression of all STEP isoforms, and exhibit enhanced phosphorylation of ERK1/2 in the striatum, hippocampus ..... For more information please see the full phenotype on the strain data sheet | ||
| 014161 | B6N.129P2-Adora1tm1Bbf/J | Repository- Live |
| In this A1R strain, neomycin resistance (neo) cassette replaces exon 2 of the endogenous adenosine A1 receptor (Adora1) gene, abolishing gene function. Heterozygotes are viable, fertile, and normal in size. Homozygotes have a decreased survival rate after 5 months of age and males exhibit reduced fertility. The binding of adenosine to A1R inhibits excitatory synaptic transmissions in the brain and causes dilation of veins and arteries. These mice exhibit an increase in hyperalgesia, anxiety, hypoxic damage, lipolysis, insulin secretion, osteopetrosis, and susceptibility to epilepsy. They also have abolished tubuloglomerular feedback and a reduction in ischemic preconditioning. These mice have a decrease recovery rate after hypoxic or ischemic stress. | ||
| 017310 | B6N.Cg-Tg(Hsd17b1-icre/ERT2)3Casa/J | Repository- Live |
| Mice hemizygous for the BAC Hsd17b1-icreERT2 transgene are viable, fertile, and normal in size with iCre-ERT2 expression directed by the hydroxysteroid (17-beta) dehydrogenase 1 (Hsd17b1) promoter/enhancer regions within the BAC transgene. These BAC mice express 8 copies of iCre-ERT2 protein in granulose cells of the ovarian follicles. iCre-ERT2 fusion gene activity is inducible and is observed only following tamoxifen administration. When these mice are bred with mice containing loxP-flanked sequence, tamoxifen-inducible, Cre-mediated recombination will result in deletion of the floxed sequences in the BAC-expressing cells of the offspring. These mice may be useful for studying gene function in ovarian granulose cells.
The iCre-ERT2 fusion protein consists of a codon-improved Cre recombinase fused to a triple mutant form of the human estrogen receptor which does not bind its ..... | ||
| 012866 | B6N.DDD-plt/NknoJ | Repository- Live |
| Homozygous C57BL/6-plt mice are viable and fertile, harboring the spontaneous plt (or "paucity of lymph node T cells") deletion of both the Ccl19 and Ccl21a loci on chromosome 4. Lack of expression of these two CCR7 ligands in the secondary lymphoid organs results in abnormal leukocyte migration and impaired immune response. Specifically, homozygous mice have disrupted trafficking/homing of T cells and dendritic cells to lymphoid tissues. No reported abnormalities in B cell distribution/cellularity are reported for homozygous mice. Transient migration of antigen-stimulated B cells in lymphoid organs (which facilitates B cell/helper T cell interactions) is also impaired in homozygous mice. Homozygous mice exhibit mature single-positive thymocyte arrest in the thymic cortex that results in defective formation of the medullary region of the thymus. Thymic export of T cells in these mice is compromised during the neonatal period but not in adulthood. While C ..... For more information please see the full phenotype on the strain data sheet | ||
| 005412 | BALB/cByJ-Fgfr1Eask/GrsrJ | Repository- Live |
| The ear askew mutation is homozygous embryonic lethal. Heterozygotes have unilateral or bilateral low-set ears and malformed pinna. There is variable expressivity. Heterozygotes are viable and fertile, but auditory brainstem response assessment shows severe hearing loss at 6 months of age. | ||
| 008172 | BKS(HRS)-Ddr2slie/JngJ | Repository- Live |
| Mice homozygous for this mutation appear normal at birth. By weaning, they exhibit a reduced body mass, gain weight slower and display minor craniofacial abnormalities such as protruding eyes and a shortened snout. Bone mineral content, but not density is reduced in homozygotes. Plasma glucose levels are significantly increased while blood urea nitrogen levels are decreased in homozygotes. By six weeks, it can be seen that homozygous females lack a corpora lutea. By four months, homozygous males exhibit atrophy of spermatogonia, Sertoli and Leydig cells. This mutant mouse strain has characteristics similar to human Levi type dwarfism and may be useful in studies related to dwarfism and infertility. | ||
| 016093 | C.129S4(B6)-Git1Gt(FHCRC-GT-S10-12C1)Sor/WeisJ | Repository- Live |
| A targeting vector containing β-galactosidase, a polyadenylation signal, and a PGK Hygromycin selection cassette, was randomly inserted downstream of exon 1 of the endogenous G protein-coupled receptor kinase-interactor 1 (Git1) gene. Heterozygous mice are viable, normal in size and do not display any gross physical or behavioral abnormalities, although some males have decreased fertility. Homozygous mice die within a few days after birth. This β-geo secretory trap mutation abolishes endogenous gene function and expresses a Git1-exon1/lacZ fusion protein. Git1 belongs to the family of ADP-ribosylation factor GTPase-activating proteins (ARF-GAP) and has been implicated in the regulation of G protein-coupled receptor sequestration, cell migration, neuronal spine formation, and aggregate formation in Huntington's disease. GIT1 expression restricted to some areas of the brain, to cells lining blood vessels, bronchi, and bile ducts. Expression of GIT1 is absent dur ..... For more information please see the full phenotype on the strain data sheet | ||
| 013133 | C.129S6(Cg)-Npsr1tm1Bhk/J | Repository- Live |
| In this strain, exon 4 of the endogenous neuropeptide S receptor 1 (Npsr1 or GPRA) gene is replaced with a neo cassette, abolishing ligand binding function. Homozygous (GPRA-/-) mice are viable, fertile, normal in size, and do not display any gross physical or behavioral abnormalities. GPRA-/- mice on a 129/SvEv genetic background show an attenuated response when challenged with the cholinergic receptor-dependent bronchoconstricting agent thromboxane. These GPRA mutant mice may be useful for studying the induction of asthma-like disease, smooth muscle constriction, and airway function.
In an attempt to offer alleles on well-characterized or multiple genetic backgrounds, alleles are frequently moved to a genetic background different from that on which an allele was first characterized. It should be noted that the phenotype could vary from that originally described. We will modify the strain description if necessary as published results become avai ..... | ||
| 005653 | C.Cg-Gata1tm6Sho/J | Repository- Live |
| Homozygous females and hemizygous males for the targeted mutation are viable, fertile, and normal in size. This mutation results in the complete ablation of the eosinophil lineage, even under conditions that normally stimulate eosinophil development, without affecting the development of other GATA-1 dependent lineages (erythroid, megakaryocytic, and mast cells). Expression of the endogenous gene is observed in erythroid and bone marrow cells. This mutant may be useful for in vivo studies of eosinophil function and eosinophil-related pathologies, including asthma and pulmonary physiology. | ||
| 006038 | C3H/HeDiSn-Dscam2J/GrsrJ | Repository- Live |
| Mice homozygous for the Dscam2J mutation can be identified as early as 2 days of age resting on their backs instead of their stomachs and struggling to maintain balance. They develop overt thoracic kyphosis and a domed skull and appear to walk on their toes. Homozygotes fail swim tests wherein they are unable to swim in a straight line, curl up their bodies, and sink to the bottom. However, they have normal auditory brain stem responses indicative of normal cochlear hair cell function and connectivity. Degeneration of spinal joints, dystrophic axons in the lumbar spinal cord and small areas of degenerating epaxial skeletal muscle are found in aging homozygotes. On this background, in the presence of the Pde6brd1 mutation, the inner nuclear layer and retinal ganglion layer are disorganized, a phenotype beyond the retinal degeneration inherent in the background. Additionally, the dopaminergic amacrine cells have fasciculated neurites and are orga ..... For more information please see the full phenotype on the strain data sheet | ||
| 004626 | C3H/HeDiSnJ-Vamp1lew/GrsrJ | Repository- Live |
| Mice homozygous for this recessive mutation are recognized by their wasting pre-weaning lethal phenotype, they curl up, waste away and die by 21 days. Mutants do not live to breed but no lesions have been found pathologically. | ||
| 004780 | C3H/HeJ-agil/GrsrJ | Repository- Live |
| Mice homozygous for this recessive mutation are recognized by 15 days of age by their shaky, unsteady, wobbly gait. Mutants die around three weeks of age. The agitans-like mutation maps to Chromosome 14 between D14Mit39 and D14Mit115 which are near the neurological mouse mutation agitans (ag). The agitans mutants exhibit a similar phenotype. | ||
| 004476 | C3H/HeJ-snol/GrsrJ | Repository- Live |
| The snol homozygous mutant phenotype includes a short nose, odd face and body shape, and kinked tail. Most mutants also get malocclusion and two homozygous mutants tested at 49 days of age exhibited intermediate hearing loss ( about 25 dB above normal). The odd shape of the face can be used to distinguish the Homozygotes by 14 days of age. snol has been mapped to Chromosome 4. The most likely gene order places the mutation between D4Mit12 and D4Mit203 in 92 tested meioses. A short nosed mutation, snubnose (sno), maps in this location, but could not be tested for allelism because it is believed to be extinct. The spina bifida occulta reported in sno homozygotes is not seen in snol homozygotes. | ||
| 014132 | C3H/HeOuJ-MaoaTg(H2-K1-Ifnb1)8Seif/J | Repository- Live |
| These H2-IFNB transgenic mice have the murine interferon beta 1 (Ifnb1) coding sequence driven by a fragment of the murine histocompatibility 2, K1, K region (H2-K1) promoter. The transgene integrated into the X-linked monoamine oxidase A (Maoa) gene, replacing exons 2-3 and abolishing Maoa gene function. Hemizygous males and homozygous females are viable, and fertile until at least 6 months. MAOA is a mitochondrial enzyme that oxidizes monoamine neurotransmitters and dietary monoamines. These mutants lack MAOA activity resulting in increased levels of serotonin, dopamine, and norepinephrine. Excess serotonin in these mice causes abnormal development of certain neural circuits, such as in the barrelfield. During the first two postnatal weeks, these mice successively exhibit increased trembling and head nodding, frantic running and falling over. Adult males exhibit increased aggression towards subordinate males, male intruders, and females during ..... For more information please see the full phenotype on the strain data sheet | ||
| 008393 | C3H;101-Dync1h1Swl/PopJ | Repository- Live |
| Mice heterozygous for the radiation-induced Sprawling mutation of the cytoplasmic dynein heavy chain 1 gene (Dync1h1Swl) are viable and fertile (the donating investigator reports that less than 50% of males breed successfully). Heterozygous mice display an early-onset hereditary proprioceptive sensory neuropathy with muscle spindle deficiency. Mice are distinguishable around one week after birth by the presence of hindlimb flexion during tail suspension, and around three to four weeks of age develop a typical unsteady gait characterized by jerky and wobbly locomotion. At rest, the hindlimbs are splayed and flexed forward and hindpaws are incapable of gripping structures. Defective proprioception is suggested as proprioceptive sensory neurons are severely compromised in the lumbar dorsal root ganglia of newborns and the H reflex is defective despite normal motor nerve function in the hindlimbs. Homozygous mice die in utero before embryonic day (E)8.5, indicating ..... For more information please see the full phenotype on the strain data sheet | ||
| 013080 | C57BL/6-Actbtm3.1(Sirt1)Npa/J | Repository- Live |
| Mice that are heterozygous for the targeted mutation are viable, exhibit delayed reproduction and lower body weight. No homozygotes are produced from heterozygous crosses. Fewer than expected heterozygotes are produced from heterozygote X wildtype crosses. Overexpression of gene product (protein) is detected by Western blot analysis of white adipose tissue, brown adipose tissue, MEFs, skull calvaria cells and brain tissue. Overexpression of the protein is not detected in liver or muscle tissue. Fusion gene product (mRNA) is detected in white adipose tissue by Northern blot analysis. Beta-actin protein expression is equivalent to wildtype levels. Heterozygote knock-in mice have reduced fat mass (epididymal fat pad weight), circulating free fatty acids, leptin, adiponectin and total cholesterol. Food consumption, glucose tolerance and metabolic rate (with associated higher oxygen consumption) are increased in the mutant mice. In fasted conditions, heterozygotes have lower circul ..... For more information please see the full phenotype on the strain data sheet | ||
| 016091 | C57BL/6-Ptprcltng/J | Repository- Live |
| These lightning mice possess an ENU-induced point mutation (F503S) in the protein tyrosine phosphatase, receptor type, C (Ptprc), gene. Homozygotes are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. Ptprc encodes CD45, a protein tyrosine kinase which is expressed in nucleated hematopoietic cells and is required for their activation. CD45 is also required for T cell receptor (TCR) signaling and T cell development. These mice contain only 15% of the normal level of CD45 expression on the surface of nucleated hematopoietic cells, without altering splicing of transcript isoforms. These mutant mice may be useful in studying the differential regulation of TCR signaling by altered CD45 expression levels. | ||
| 008309 | C57BL/6-Rag2tm1Cgn/J | Repository- Live |
| Mice homozygous for the RAG-2fl allele are viable and fertile, with loxP sites flanking exon 3 of the targeted gene. When bred to mice that express Cre recombinase, the resulting offspring will have this region (coding for the entire RAG-2 protein) deleted in the cre-expressing tissue(s). These RAG-2fl mice may be useful in generating conditional mutations for studying the role of RAG-2 in B and T cell development (including cancer and toxicology research as a xenograft/transplant host), T and B cell receptor (V(D)J) recombination, hematopoiesis, hematology, immunology, and inflammation research. For example, when bred to a strain with inducible Cre recombinase expression in liver and lymphocytes (see Stock No. 003556), this mutant mouse strain may be useful in studies of B and T cell development. | ||
| 014564 | C57BL/6-Tg(CMV-Tsc2*)1Arbi/KlanJ | Repository- Live |
| These Delta RG transgenic mice express a dominant negative mutant mouse Tsc2 (tuberous sclerosis 2) gene that lacks the sequence encoding the rabaptin-5 and rap1GAP motifs. Expression is directed by the CMV, cytomegalovirus, promoter. Transgenic mice develop skin and brain hamartomas with aggregates of granular cells at the surface cerebellum (subpial) and collagenous fibrovascular proliferations containing abundant mast cells in the skin. Hemizygotes exhibit higher anxiety, spending less time in the open arms of an elevated plus maze when compared to wildtype mice. Mild learning and memory defects are alos observed. Mice that are hemizygous for the transgene are viable, normal in size and do not display any gross physical or behavioral abnormalities. | ||
| 016617 | C57BL/6-Tg(Nr4a1-EGFP/cre)820Khog/J | Repository- Live |
| Mice hemizygous for the Nur77-GFPCre BAC transgene (Nur77GFP BAC transgenic mice) are viable and fertile with normal lymphoid and myeloid development. Nur77-GFPCre BAC transgenic mice express an enhanced green fluorescent protein/codon-optimized "humanized" Cre recombinase fusion protein (eGFP-hCre) under control of the Nr4a1 (Nur77) promoter/enhancer regions within the BAC transgene. Nur77-GFPCre BAC transgenic mice from founder line B6-820 exhibit GFP expression patterns consistent with endogenous Nur77. Specifically, GFP is highly expressed in a subset of myeloid lineage cells of the spleen (but not lymph node), while low levels of GFP are observed in T and B lymphocytes. GFP is up-regulated by antigen receptor stimulation in Nur77-GFPCre BAC transgenic mice, but unlike the CD69 marker of T cell activation, GFP is not induced by inflammatory stimuli. Furthermore, the level of GFP expressed during acute activation reflects the strength of T cell receptor (TCR) stim ..... For more information please see the full phenotype on the strain data sheet | ||
| 013148 | C57BL/6-Tg(Pdgfra-cre)1Clc/J | Repository- Live |
| Hemizygous Pdgfra-cre mice are viable and fertile, with cre expression directed to retinal Muller glial cells by the mouse Pdgfra (platelet derived growth factor receptor, alpha polypeptide) promoter. Expression is predominantly in the cell bodies of the inner nuclear layer (INL) of the retina, but some expression may be observed in the outer nuclear layer (ONL) and in the ganglion cell layer (GCL). The donating investigator indicates that although not examined, cre may also be active in many types of central nervous system glial cells. When bred with mice containing a loxP-flanked sequence of interest, Cre-mediated recombination will result in deletion of the floxed sequence(s) in the offspring. | ||
| 009157 | C57BL/6J-Ank1pale/GrsrJ | Repository- Live |
| Pale lethal homozygotes are smaller than normal littermates, have a pale light grey skin color, evident at birth, and most die by one week of age, although some have survived to 3 or 4 weeks of age. Some prenatal lethality is implied by the fact that heterozygous crosses yield fewer than 25% homozygotes. | ||
| 006926 | C57BL/6J-EgfrVel/J | Repository- Live |
| Mice homozygous for this mutation have an embryonic lethal phenotype, failing to develop past embryonic days 13.5. Heterozygous mice are viable, fertile, do not display any behavioral abnormalities and are born with open eyelids and curly vibrissae. Adult heterozygotes often have small eyes and corneal opacity with excessive secretions at the eyelid edges. MEFs (mouse embryonic fibroblasts) exhibit reduced migratory ability, approximately 53% of wildtype controls. Histological analysis of homozygous E12.5 embryos reveals placental defects. This mutant mouse strain may be useful in studies of development and as a visible dominant marker for the Egfr allelic series. | ||
| 012810 | C57BL/6J-Enpp1asj/GrsrJ | Repository- Live |
| Homozygotes initially appear normal but by 2 months of age they hold their forepaws closer to the body and develop a slow hobbling gait due to joint calcification. Moderate to severe hearing loss is found by 3 months of age. Homozygotes may breed, but the ability to breed and maintain a litter is curtailed by progressive physical disability. | ||
| 000533 | C57BL/6J-Ghrhrlit/J | Repository- Live |
| Mice homozygous for the little spontaneous mutation (Ghrhrlit) are characterized by a deficiency in pituitary growth hormone and prolactin and growth retardation. Male mice have reduced fertility and female mice show a delay in lactation. | ||
| 004246 | C57BL/6J-sbse/J | Repository- Live |
| 002623 | C57BL/6JSmn-Dstncorn1-2J/J | Repository- Live |
| Histological assessment of corneas from mice homozygous for the Dstn corn1-2J mutation reveals focal epithelial thickening and enlarged surface epithelial cells with degenerating nuclei. These mice lack the neovascularization found in mice homozygous for the Dstn corn1 mutation and have a more mild corneal epithelial phenotype. Preliminary assessment indicates that this variation in phenotype results from the distinct mutations in Dstn, not from differences in genetic background. In both mutants the corneal epithelial cells show increased levels and altered organizational patterns of filamentous actin. In the Dstncorn1 mutants this alteration to filamentous actin has been shown to result in accelerated proliferation of basal corneal epithelial cells. (Smith et al., 1996; Wang et al., 2001; Ikeda et al., 2003.) | ||
| 010543 | C;129-Hsf1tm1Ijb/J | Repository- Live |
| Mice that are heterozygous for this targeted mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. A truncated gene product (mRNA) is detected by Northern blot analysis of embryonic cells. No gene product (protein) is detected by Western blot analysis of non-treated and heat shocked cells or brain, testis, heart and liver tissue. The prenatal lethal phenotype of homozygous mice is more severe on the 129 background than on BALB/c, C57BL/6, or ICR backgrounds. Surviving homozygotes have slowed growth with body weights approximately 78% of normal at eight weeks of age. Homozygotes exhibit abnormal chorioallantoic placenta (thinned spongiotrophoblast layer). Homozygous females are infertile due to impaired meiosis and zygotic cell division. Homozygotes are more resistant to experimentally induced skin tumors and exhibit a lower tumor burden than wild-type controls. Cultured MEFs from homozygotes are less sensitive to glucose depriv ..... For more information please see the full phenotype on the strain data sheet | ||
| 010970 | CBA/J-Dab1scm-4J/GrsrJ | Repository- Live |
| Homozygotes can be recognized by two weeks of age by smaller body size, tremor, and leaning side-to-side gait. While some homozygotes die by three weeks of age, most live to adulthood. Poor marrow, thymic atrophy, and disorganization of the neurons of the brain were found in homozygotes. | ||
| 014084 | CBA/J-agil3J/GrsrJ | Repository- Live |
| Mice homozygous for the agitans-like 3 Jackson mutation can be detected by 2 weeks of age by a wobbling gait and the propensity to retract the hind legs when picked up by the tail. They are smaller than their littermates and most die before adulthood. Homozygotes fail to breed. | ||
| 010822 | CByJ(Cg)-dde/GrsrJ | Repository- Live |
| dde homozygotes have disproportionate dwarfing evident at birth by shortened limbs, although the axial skeleton appears normal. The back feet have fused toes. Retinal dysplasia presents as white lines in the retina and electroretinaograms show abnormal rod and cone function. Males are sterile and females are poor breeders and poor mothers, often requiring foster mothers to rear the pups. The lifespan of homozygotes varies with some dying shortly after wean and others surviving to approximately one year of age. Ailments identified in homozygotes include emphysema, stomach polyp, apoptitic cells of the tesis, thyroid cysts, holes in the thoracid chord white matter, and holes in the skeletal muscle fibers in the leg. While it has been proposed that dde may offer a model for Walker-Wardburg syndrome, this has not yet been proven. | ||
| 014182 | CByJ.Cg-Fgfr3m1J/GrsrJ | Repository- Live |
| Mice homozygous for the recessive Fgfr3m1J allele have skeletal deformities that result in kyphosis, scoliosis, and a bent tail, which is often found to exit the pelvis at an abnormal angle. ABR threshold assessment shows hearing loss to the point of deafness at 3 to 4 weeks of age, the earliest age assessed. Male homozygotes display infertility, but females do breed and rear pups. Homozygotes have not been found to have a reduced lifespan, distinct from the reduced lifespan or prenatal lethality found in homozygotes for targeted deletions of this gene. | ||
| 004070 | CByJ.Cg-hml/GrsrJ | Repository- Live |
| Homozygotes have a faith-to-thrive phenotype such that they have a smaller body size and unbalanced gait detectable at 10 days of age. Those that survive to 2 months of age can generally live up to 18 months. The inner ear has extensive hypoplasia of the membranous labyrinth, a rudimentary tectorial membrane, and enlarged scala vestibuli and severe hearing loss or complete deafness are found at 19 days of age both by failed response to sounds and auditory brainstem response analysis. Homozygotes also fail to orient in water. | ||
| 002718 | CByJ.Cg-hop/J | Repository- Live |
| Mice homozygous for the hop-sterile spontaneous mutation (hop) are viable, females are fertile but males are sterile. Homozygous mutant mice walk with a characteristic hopping gait using the hindlegs simultaneously. There is preaxial polydactyly of both fore- and hindfeet. Defects in spermatogenesis result in abnormal sperm tail development. Tailed sperm are completely absent from the lumen of the testicular tubules. The second meiotic division is frequently abnormal or incomplete, often leaving four centrioles per cell. These centrioles usually fail to form flagella, and tail development is arrested. | ||
| 007562 | D2.B6-Ins2Akita/MatbJ | Repository- Live |
| DBA/2J mice heterozygous for the Akita spontaneous mutation are viable and fertile. The donating investigator reports that the symptoms in heterozygous mutant mice are more severe and progressive in the males than in the females and include hyperglycemia, hypoinsulinemia, polydipsia, and polyuria, beginning at approximately 3-4 weeks of age. Obesity and insulitis do not accompany diabetes. Litter sizes range from 2-8 pups. Heterozygous Akita males develop albuminuria at two months of age. The albuminuria is progressive such that by 6 months of age albumin/creatine levels are approximately 600ug/mg. Additionally, it has been reported that DBA/2J heterozygous mutant mice develop diabetic nephropathy.
Although not studied in the DBA/2J heterozygotes, C57BL/6 heterozygous mutant mice exhibit gait disturbance and decreased sensory nerve conduction velocity, but do not exhibit learning or memory deficits (Choeiri C et al., 2005). Progressive retinal abnormalities begin as early as ..... | ||
| 016833 | FVB(Cg)-Tg(Alb1-cre)1Dlr/J | Repository- Live |
| The Alb1-cre transgene was designed with a Cre recombinase gene under control of albumin (Alb) promoter/enhancer elements. Hemizygous Alb1-cre mice are viable, fertile, and normal in size, with cre expression directed specifically to the liver. When these transgenic mice are bred with mice containing a loxP-flanked sequence, Cre-mediated recombination is expected to result in deletion of the floxed sequences in the Cre recombinase-expressing hepatic cells of the offspring. For example, when these mice are bred to Igf1tm1Dlr-containing mice (Stock No. 012663 or Stock No. 016831), the removal of IGF1 expression in the liver causes a 75% reduction in serum IGF-1levels. These mice may be useful for studying the liver specific deletion of target genes. | ||
| 005564 | FVB(Cg)-Tg(Ins2-CALM1)26Ove Tg(Cryaa-TAg)1Ove/PneJ | Repository- Live |
| Transgenic mice are viable, display small eyes with cataracts and are hyperglycemic within 24 hours of age. S1 Nuclease protection assays indicate expression of calmodulin in the pancreas of 40-60 day old transgenic mice. Immunofluorescence analysis of the pancreas indicates increased levels of camodulin in B-cells of the pancreas. Camodulin fluorescing cells were not detected in the pancreatic acinar cells or any other tissue. Digital image scanning indicates the concentration of camodulin in transgenic B-cells is 5-fold higher than in wild type controls. Pancreatic insulin is 28% of control levels by 15 days of age. Insulin mRNA levels were also reduced in the transgenic animals. Transgenic mice experience hypoalbuminemia, elevated blood pressure, impaired cardiomyocytes and late stage diabetic nephropathy. Although transgenic mice are hyperglycemic within 24 hours of age, they are able to survive over a year without insulin treatment. This stock is useful for studying systemic c ..... | ||
| 006774 | FVB-Tg(Col2a1-cre/ERT)KA3Smac/J | Repository- Live |
| Mice hemizygous or homozygous for the Col2CreERT transgene are viable and fertile. Mice from this founder line (line K from founder mouse A3) have strong tamoxifen-inducible cre expression directed to cells of the chondrogenic lineage (cartilage), with minimal (<0.1%) cre activity in the absence of tamoxifen. The CreERT protein consists of Cre recombinase fused to a mutant form of the human estrogen receptor; which does not bind its natural ligand (17β-estradiol) at physiological concentrations but will bind the synthetic estrogen receptor ligand 4-hydroxytamoxifen. Restricted to the cytoplasm, CreERT can only gain access to the nuclear compartment after exposure to tamoxifen. To counteract the mixed estrogen agonist effects of tamoxifen injections, which can result in late fetal abortions in pregnant mice, progesterone may be coadministered. When these Col2CreERT mice are bred with mice containing a loxP-flanked ..... For more information please see the full phenotype on the strain data sheet | ||
| 016570 | FVB-Tg(Myh6-TRPC3*)6.6Jmol/J | Repository- Live |
| The dnTRPC3 transgene contains amino acids 1-302 of the human transient receptor potential cation channel, subfamily C, member 3 (TRPC3) gene under the control of the mouse myosin, heavy polypeptide 6, cardiac muscle, alpha (Myh6) promoter. Hemizygotes are viable, fertile and normal in size. TRPC3 is a nonselective monovalent cation channel which is activated by oxidative stress in endothelial cells. These mice express a dominant-negative form of TRPC3. They only express the N-terminus of the gene and lack the transmembrane and cytosolic carboxy terminal domains. TRPC3 transgenic mice exhibit an increase in cardiac calcineurin-nuclear factor of activated T cells (NFAT) transcriptional activity, cardiac hypertrophy, and cardiomyopathy. They show a dosage-dependent increase in cardiac hypertrophy following neuro-endocrine agonist or pressure overload stimulation. | ||
| 004938 | FVB-Tg(YAC128)53Hay/J | Repository- Live |
| These transgenic mice express the human huntingtin protein containing a 128 CAG repeat expansion. Human huntingtin mRNA and protein is detected. Hyperkinesis begins at 3 months of age with progressive motor impairment appearing at 6 months of age. This is followed by progressive neurodegeneration, starting at 9 months of age, and hypokinesis at 12 months. The motor dysfunction, Rotorod deficit, is correlated with neuronal loss. Mutants exhibit decreased brain weight and reduced striatal and cortical volumes. 18% shrinkage of striatal neurons is observed in 12 month old mutants. A significant decrease (15%) in the number of striatal neurons occurs by 12 months of age. Nuclear huntingtin aggregate inclusions of striatal neurons from 18 month old mutant mice are detected at the light microscopy level. This mutant mouse strain represents a model that may be useful in studies of Huntington's disease. | ||
| 004624 | FVB.129P2-Pde6b+ Tyrc-ch Fmr1tm1Cgr/J | Repository- Live |
| Hemizygous male and homozygous female mice for this knockout show many phenotypic characteristics of the Fragile X Syndrome in humans that lack the fragile X mental retardation protein (FMRP) as a result of a mutation in the FMR1 gene. FMRP is an RNA binding protein whose function is shown to be involved in translational regulation of specific dendritic mRNAs. Certain regions of the brain in these mice are characterized by the presence of long, thin dendritic spines on excitatory neurons. Behavioral traits include deficits in classical delay eye-blink conditioning, autistic-like core symptoms of altered social interaction and occurrence of repetitive behaviors with additional hyperactivity, reduced anxiety, and increased errors in a learning assay. Whole-cell patch-clamp recordings in the anterior cingulate cortex show that long-term potentiation is completely abolished. A similar decrease in long-term potentiation is found in the la ..... For more information please see the full phenotype on the strain data sheet | ||
| 004828 | FVB.129P2-Pde6b+ Tyrc-ch/AntJ | Repository- Live |
| These mice are homozygous for the 129P2/OlaHsd wildtype Pde6b allele and do not suffer from blindness due to retinal degeneration. Mice from the colony of FVB.129P2-Fmr1tm1Cgr/J, Stock No. 004624, that no longer carried the mutant allele for Fmr1 were used to establish this line. Mice are pigmented as a result of the homozygosity of the Tyrc-ch allele. This mutant mouse strain may be useful in studies where a sighted mouse on the FVB background is an appropriate control, such as behavioral studies. This strain serves as the control for the FVB.129P2-Fmr1tm1Cgr/J strain, Stock No. 004624 . | ||
| 012655 | FVB.A-Irf6clft1/BeiJ | Repository- Live |
| Mice that are homozygous for this hypomorphic allele are characterized by an abnormal adhesion between the tongue and palate. Approximately 63% of E18.5 mutants exhibit a partial fusion of the anterior palate, the remaining mutants exhibit a complete cleft of the secondary palate. Oral adhesions between the palate and tongue are first observed by E12.5. In addition, a small number of mutants exhibit syndactyly, short forelimbs, curly tail, and hind limbs that appear fused to the body.
This mutant mouse strain may be useful in studies of cleft palate and Van der Woude Syndrome.
In an attempt to offer alleles on well-characterized or multiple genetic backgrounds, alleles are frequently moved to a genetic background different from that on which an allele was first characterized. It should be noted that the phenotype could vary from that originally described. We will modify the strain description if necessary as published results become available. | ||
| 014140 | FVB.Cg-Myod1tm2.1(icre)Glh/J | Repository- Live |
| The MyoDiCre targeting vector was designed to replace exon 1 of the Myogenic differentiation 1 (Myod1) gene with a modified Cre-recombinase, iCre, abolishing Myod1 gene function. This optimized variant of Cre recombinase, driven by Myod1 promoter/enhancer elements, improves translational efficiency and reduces epigenic silencing. Heterozygous mice are viable, fertile, and normal in size, while homozygous mice exhibit reduced fitness and survival prior to weaning. Myod1 is a muscle regulatory factor and a marker of commited myogenic cells. When MyoDiCre mice are bred with mice containing loxP-flanked sequences, Cre-mediated recombination will result in deletion of the floxed sequences in the Myod1-expressing cells of the offspring. These mice may be useful for lineage analysis and skeletal muscle-specific gene ablation. | ||
| 006214 | FVB.Cg-Smn1tm1Msd/J | Repository- Live |
| Mice that are heterozygous for the targeted mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. Beta-galactosidase staining is found in oocytes of pregnant heterozygous females. Homozygous mice have an early embryonic lethal phenotype, failing to form a blastocoel cavity and do not implant. Abnormal development is observed by 80 hours post conception. By 90 to 100 hours post conception there is massive cellular degeneration and apoptotic cell death. This mutant mouse strain may be useful in studies of spinal muscular atrophy. | ||
| 007955 | FVB.Cg-Smn1tm2Mrph/J | Repository- Live |
| This strain functions as a reporter strain for Smn1 (survival motor neuron 1) in the heterozygous state. Exons 1 through 8 of the mouse Smn1 gene (12.8 kb) were replaced with lacZ and an FRT site remaining from the deletion of a selection marker. This allele is a functional null and homozygous animals are embryonic lethal. Importation of this model was supported by the Spinal Muscular Atrophy Foundation. | ||
| 007964 | FVB.Cg-Smn1tm3(SMN2/Smn1)Mrph/J | Repository- Live |
| This allele is a functional null in the non-recombined state and homozygous animals are embryonic lethal. This allele is engineered to revert to a fully functional Smn1 allele upon Cre-mediated recombination. This mutant mouse strain may be useful in studies of Spinal Muscular Atrophy. Importation of this model was supported by the Spinal Muscular Atrophy Foundation. | ||
| 005024 | FVB.Cg-Tg(SMN2)89Ahmb Smn1tm1Msd/J | Repository- Live |
| Mice that are homozygous for the targeted mutant Smn1 allele and carry the SMN2 transgene exhibit symptoms and neuropathology similar to patients afflicted with type I proximal spinal muscular atrophy (SMA). In the initial characterization by the donating investigator, mice were either stillborn or survived 4-6 days. Mice that died at or shortly after birth were slightly smaller (1.33 g. vs. 1.51 g.) than normal littermates. Mice that survive for several days are indistinguishable from normal littermates in the first 48 hours, after which they exhibit decreased suckling and movement, labored breathing and tremoring limbs. Mice succumbing at this later time point are noticeably smaller than normal littermates (1.47 g vs. 4.59). A bell-shaped trunk is also noticeable in affected mice, presumably from intercostal muscle weakness, a characteristic of type I SMA. Histological analysis indicates that affected mice that survive to day 5 exhibit a loss of motor neurons from spina ..... For more information please see the full phenotype on the strain data sheet | ||
| 017437 | FVB/N-Ckap5TgTn(sb-cHS4,Tyr)2320F-1Ove/J | Repository- Live |
| These OVE2320F-1 (OVE#2320F-1) mice harbor a mutation created by random insertion of the SB-cHS4core-SB-Tyro-WPRE-FUGW lentiposon transgene (LV2229). Using inverse PCR analysis, the lentiviral integration site was identified in intron 26 of the cytoskeleton associated protein 5 gene (Ckap5) on chromosome 2. The 5'-LTR is linked to the (-) strand of DNA at position 91,408,998 bp [NCB137/mm9; 5'-91,408,998(-)]. The lentivirus is inserted in the sense orientation relative to the disrupted mouse gene. The donating investigator reports the phenotype of homozygous mice as: small with cleft palate. | ||
| 017438 | FVB/N-MidnTg(Tyr)2261EOve/J | Repository- Live |
| These OVE2261E (OVE#2261E) mice harbor a mutation created by random insertion of the Tyro-WPRE-FUGW lentiviral transgene (LV2177). Using inverse PCR analysis, the lentiviral integration site was identified in intron 4 of the midnolin gene (Midn) on chromosome 10. The 3'-LTR is linked to the (-) strand of DNA at position 79,614,557 bp [NCB137/mm9; 3'-79,614,557(-)]. The lentivirus is inserted in the antisense orientation relative to the disrupted mouse gene. The donating investigator reports the phenotype of homozygous mice as: cleft palate, and females have small ovaries. | ||
| 017436 | FVB/N-Tapt1TgTn(sb-cHS4,Tyr)2508GOve/J | Repository- Live |
| These OVE2508G (OVE#2508G) mice harbor a mutation created by random insertion of the SB-cHS4core-SB-Tyro-WPRE-FUGW lentiposon transgene (LV2229). Using inverse PCR analysis, the lentiviral integration site was identified in intron 11 of the transmembrane anterior posterior transformation 1 gene (Tapt1) on chromosome 5. The 3'-LTR is linked to the (+) strand of DNA at position 44,574,289 bp [NCB137/mm9; 3'-44,574,289(+)]. The lentivirus is inserted in the antisense orientation relative to the disrupted mouse gene. The donating investigator reports the phenotype of homozygous mice as: cleft palate, possible anemia. | ||
| 012630 | FVB/N-Tg(GFAP-HTT*160Q)31Xjl/J | Repository- Live |
| HTT-160Q-31 transgenic mice have the human glial fibrillary acidic protein (GFAP) promoter directing expression of the human huntingtin (HTT) gene in astrocytes, a glial cell that removes extracellular glutamate in the brain. Hemizygous GFAP-HD mice are viable and fertile. HTT-160Q-31 mice exhibit weight loss, deficient motor function, and die earlier than control mice. HTT-160Q-31 binds with Sp1 transcription factor decreasing the expression of glutamate transporter in astrocytes by reducing the association of Sp1 with the glutamate transporter promoter. This leads to a decrease in extracellular glutamate uptake by glial cells and may cause the glutamate excitotoxicity associated with Huntington's disease. These mice may be useful for studying the pathology and neurodegeneration associated with glutamate excitotoxicity in Huntington's disease. | ||
| 008197 | FVB/N-Tg(HTT*97Q)IXwy/J | Repository- Live |
| Mice hemizygous for the BACHD transgene are viable and fertile. Under the control of endogenous human htt regulatory machinery, BACHD mice have relatively high expression levels of a neuropathogenic, full-length human mutant Huntingtin (fl-mhtt) modified to harbor a loxP-flanked human mutant htt exon 1 sequence (containing 97 mixed CAA-CAG repeats encoding a continuous polyglutamine (polyQ) stretch). Prior to Cre recombinase exposure, BACHD mice exhibit progressive motor deficits, neuronal synaptic dysfunction, and selective late-onset neuropathology without somatic polyQ repeat instability in the aged brain. Moreover, BACHD mice reproduce a mhtt aggregation pattern reminiscent of that in adult-onset Huntington's disease (HD). Importantly, a relatively steady-state level of predominantly fl-mhtt and a small amount of mhtt N-terminal fragments present in both the nucleus and cytoplasm, are responsible for the onset and progression of neuropathology. Upon exposure to ..... For more information please see the full phenotype on the strain data sheet | ||
| 017617 | FVB/N-Tg(Kdr-TVA)1026Ebp/J | Repository- Live |
| These Flk1-TVA transgenic mice contain the mouse kinase insert domain protein receptor (Kdr) promoter driving expression of an avian specific retroviral receptor (TVA) derived from quail. FLK1 is a receptor tyrosine kinase expressed on proliferating adult and embryonic endothelial cells, and is involved in the development of angiogenic vasculature. Hemizygous mice are viable and fertile. Expression of TVA in these mice makes them highly susceptible to infection by RCAS (replication-competent, avian leukosis virus LTR, splice acceptor) gene delivery machinery. The RCAS integrates its genetic information into the host DNA, promoting a high level of viral transcription. The insertion of a gene of interest into multicloning site within RCAS-derived constructs allows for its cell specific constitutive expression in vascular epithelial cells. These TVA mice may be useful for studying genes of interest involved in angiogenesis. | ||
| 012460 | FVB/N-Tg(Myh6-Gnaq)40Gwd/J | Repository- Live |
| Mice hemizygous for the Myh6-Gnaq allele are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. The donating investigator states that hemizygous females develop peripartum cardiomyopathy. Expression of Gαq is regulated by an α-myosin heavy chain (Myh6) promoter, which leads to overexpression of Gαq in the heart. This overexpression results in cardiac hypertrophy, defined as a conserved program of fetal gene expression, increased heart weight, and increased cardiomyocyte size, which severely compromises systolic cardiac function, and results in overt cardiac failure. Upon experimental pressure overloading, the mice progress rapidly to heart failure. These mice may be useful for studying the biochemical and physiologic phenotype resembling both the compensated and decompensated phases of human cardiac hypertrophy. | ||
| 009090 | FVB/NJ-Tg(Slc6a3-PARK2*Q311X)AXwy/J | Repository- Live |
| Hemizygous Parkin-Q311X(A) mice are viable and fertile, with expression of a FLAG-tagged, C-terminal truncated human parkin-Q311X mutation associated with Turkish early-onset Parkinson's disease directed to dopaminergic neurons of the substantia nigra pars compacta (SNc) and ventral tegmentum area (VTA) by the mouse Slc6a3 promoter/enhancer sequences. Parkin-Q311X(A) mice (derived from founder line A) have expression of the FLAG-tagged parkin-Q311X protein in dopaminergic neurons at a level that is approximately equivalent to or just below that expected from a heterozygous endogenous parkin allele. Parkin-Q311X(A) mice exhibit multiple late-onset and progressive hypokinetic motor deficits, progressive dopaminergic neuron dysfunction and degeneration, and age-dependent accumulation of proteinase K-resistant endogenous alpha-synuclein. Compared to founder line D, Parkin-Q311X(A) mice have a higher transgene copy number that results in more robust and earlier onset of hypokinetic m ..... For more information please see the full phenotype on the strain data sheet | ||
| 016974 | FVB;129P2-Mettm1Sst/J | Repository- Live |
| These c-metfl/fl floxed mutant mice possess loxP sites flanking exon 16 of the met proto-oncogene (Met) sequence. Mice that are homozygous for this allele are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. MET is a tyrosine kinase receptor, expressed in a wide variety of adult and embryonic tissues, which regulates mitogenesis, motogenesis, brain development, and dendrite and spine morphogenesis. MET, along with its ligand HGF (hepatocyte growth factor), has been implicated in diseases such as autism spectrum disorders (ASD), schizophrenia, and tumorigenesis. When these mutant mice are bred to mice that express Cre recombinase, resulting offspring will have exon 16, encoding a critical ATP-binding site, deleted in cre-expressing tissues. This deletion inactivates the intracellular tyrosine kinase domain of MET which is essential for MET function.
For example, when crossed to a strain e ..... | ||
| 017434 | FVB;B6-Cramp1lTgTn(sb-rtTA,Tyr)2447AOve/J | Repository- Live |
| These OVE2447A (OVE#2447A) mice harbor a mutation created by random insertion of the SB-sa-IRES-rtTA-pA-SB-Tyro-WPRE-FUGW lentiposon transgene (LV2223). Using inverse PCR analysis, the lentiviral integration site was identified in intron 3 of the cramped-like [Drosophila] gene (Cramp1l) on chromosome 17. The 5'-LTR is linked to the (-) strand of DNA at position 25,135,745 bp [NCB137/mm9; 5'-25,135,745(-)]. The rtTA is inserted in the sense orientation relative to the disrupted mouse gene. The donating investigator reports the phenotype of homozygous mice as: cleft palate. | ||
| 000674 | I/LnJ | Repository- Live |
| I/LnJ mice were originally derived by Dr. LC Strong in 1926 from an unpedigreed stock of mice. A high proportion of mice from this strain lack a corpus callosum. This absence is associated with slow growth of the medial septum subadjacent to the cavum septi. I/LnJ mice are resistant to mmtv induced mammary tumor development and generate neutralizing antibodies to mmtv and MuLv virions that effectively block viral transmission. Due to a frameshift mutation in alpha 1 phosphorylase kinase these mice have increased glycogen content in resting skeletal muscle. The reproductive performance of I/LnJ mice is very poor. Further analysis indicates that oocytes from I/LnJ mice display retarded kinetics of meiotic maturation and a high frequency of metaphase I arrest. Some oocytes fail to resume meiosis. Oocytes have many very small centrosomes with an absence of microtubules. I/LnJ mice, in addition to carrying several other coat color alleles, are homozygous for the piebald mutation (Ednrb<> ..... For more information please see the full phenotype on the strain data sheet | ||
| 000675 | LG/J | Repository- Live |
| LG/J mice develop antinuclear antibodies and rheumatoid factor as well as renal disease characterized by glomerulonephritis, interstitial nephritis, and perivasculitis (Peng et al., 1996). LG/J was the predominant strain used to develop the MRL/LpJ (Stock No. 000486) inbred strain, a model for autoimmunity. LG/J mice are often compared to SM/J (Stock No. 000687) for quantitative trait locus analysis in the areas of atherosclerosis, obesity, and mandible size . These mice are susceptible to diet-induced obesity and diet-induced atherosclerosis. This strain is among the least responsive to phytohemagglutinin (Heiniger et al., 1975). | ||
| 003925 | MRL.129P2(B6)-B2mtm1Unc/Dcr-Dab1scm-2J/J | Repository- Live |
| See Stock No. 000486 for important information on the MRL/MpJ background. | ||
| 010971 | NOD.B-(D3Mit93-D3Mit124)(D4Mit114-D4Mit142)/1112MrkJ | Repository- Live |
| This NOD/MrkTac bicongenic strain carries a C57BL/6 derived genome on Chr. 3 that contains Idd3/17/10/18 and C57BL/10 derived genome on Chr. 4 containing Idd9.1, 9.2, 9.3. Unlike the parental strains, known to have low frequency diabetes, no diabetes and almost no insulitis has been detected by 12 months of age in this strain. However, at 9-11 months of age 50% of the females and 25% of the males develop autoimmune liver disease. Histological evaluation showed biliary cyst formation and obstruction which progresses with age and lymphocytic infiltrates adjacent to the cyst walls were observed. Further histological studies indicate that 44% of 8-week-old mice had early cyst formation and lymphocytic infiltrates and at 30 weeks of age 90% of the animals evaluated had cyst formation and lymphocytic infiltration, Koarada et al, 2004. The donating investigator has communicated that recent findings indicate the C57BL/6 genetic contamination on chromosome 1 is necessary for ..... For more information please see the full phenotype on the strain data sheet | ||
| 004848 | NOD.Cg-Rag1tm1Mom Prf1tm1Sdz/SzJ | Repository- Live |
| Mice that are homozygous for both targeted mutations are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities when housed under specific pathogen free conditions. These double homozygote mutant mice have no mature T or B lymphocytes, no detectable NK cell cytotoxic activity, and lack serum immunoglobulin. The number of nucleated spleen cells is significantly reduced in double mutant mice, when compared to the single homozygote, NOD.129S7(B6)-Rag1tm1Mom/J (Stock No. 003729). Although an increased number of DX5+CD122+ NK cells are found in the spleens of double mutants, these NK cells have impaired cytotoxic activity. The disruption of Prf1 ablates NK cell cytotoxic activity resulting in increased engraftment levels over that observed with Stock No. 003729. All mutant mice develop thymic lymphomas. This double mutant mouse strain may be useful in studies involving engraftment of human hematolympho ..... For more information please see the full phenotype on the strain data sheet | ||
| 000679 | P/J | Repository- Live |
| P/J mice exhibit a high incidence of lymphatic leukaemia. They also show a high susceptibility to audiogenic and electroconvulsive seizures. P/J mice are also homozygous for a number of other mutations including nonagouti (a), brown (Tyrp1b), pink-eyed dilution (Oca2p), short ear (Bmp5se), dilute Myo5ad), and retinal degeneration 1 (Pdeb1rd1). | ||
| 000644 | SEA/GnJ | Repository- Live |
| 002043 | STOCK A/A-Dab1scm/J | Repository- Live |
| Mice homozygous for the scrambler spontaneous mutation (Dab1scm) are recognized by an unstable gait and whole-body tremor. The cerebella of 30-day-old scrambler homozygotes are hypoplastic and devoid of folia; however, neither seizures nor abnormal brain wave patterns have been observed. Scrambler is similar to the reeler mutation in phenotype and pathology and, like reeler, probably results from defective neuronal migration. Female homozygotes mate and breed. Homozygous scrambler mutants have an ataxic gait which in the male may be contributory factor in the failure to mate. Normal life span for both sexes. | ||
| 012458 | STOCK Adrbk1tm1Gwd/J | Repository- Live |
| These GRK2f/f mutant mice possess loxP sites flanking exons 3-6 of the targeted gene. Mice that are homozygous for this allele are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. When these mutant mice are bred to mice that express Cre in a ubiquitous manner embryos die at E~13.5. When bred to mice that express tissue-specific Cre recombinase, resulting offspring will have exons 3-6 deleted in the cre-expressing tissues. This strain may be useful for studying the regulation of beta-adrenergic receptor signaling or other receptors regulated in a GRK2-dependent manner. | ||
| 012882 | STOCK Ascl1tm1.1(Cre/ERT2)Jejo/J | Repository- Live |
| In Ascl1-CreERT2 mice, the entire coding region of the endogenous mouse achaete-scute complex homolog 1 (Ascl1 or Mash1) gene is replaced by a CreERT2 fusion protein. Cre activity is induced following tamoxifen administration. As such, when Ascl1-CreERT2 mice are bred with mice containing loxP-flanked sequence, tamoxifen-inducible Cre-mediated recombination will result in deletion of the floxed sequences in the Ascl1-expressing cells of the offspring. The creERT2 fusion protein is expressed in all Ascl1 expressing neural progenitor cells in the embryo and the adult brain, including subsets of neurons throughout central nervous system (CNS) and peripheral nervous system (PNS), and in neuroendocrine cells in lung and kidney. Homozygotes die within hours of birth due to CNS and PNS disruptions in neural development. Mice heterozygous for this allele are viable, fertile, and normal in size. These mice may be useful for studying the lineage of distin ..... For more information please see the full phenotype on the strain data sheet | ||
| 012881 | STOCK Ascl1tm1Reed/J | Repository- Live |
| In this strain the entire coding region of the endogenous mouse achaete-scute complex homolog 1 (Ascl1 or Mash1) gene is replaced with a nuclear localized green fluorescent protein (GFP) gene, abolishing gene function. GFP, driven by the Ascl1 promoter sequence, is expressed in all Ascl1-expressing neural progenitor cells in the embryo and the adult brain, including subsets of neurons throughout the central nervous system (CNS) and the peripheral nervous system (PNS), and in neuroendocrine cells in lung and kidney. Homozygotes die within hours of birth due to CNS and PNS disruptions in neural development. Mice heterozygous for the targeted mutation are viable, fertile, and normal in size. These mice may be useful for studying the lineage of distinct cell populations, neuronal turnover, and neuronal replacement upon traumatic injury. | ||
| 013072 | STOCK Atf4tm1Tow/J | Repository- Live |
| In this strain, a neomycin phosphotransferase resistance (neo) cassette replaces the entire coding region of the endogenous mouse activating transcription factor 4 (Atf4) gene, abolishing gene function. Mice homozygous for the Atf4 allele exhibit low viability, with delayed bone formation during embryonic development and low bone mass throughout postnatal life. They exhibit a reduction in oxidative stress-induced gene expression, resistance to oxidative death, and decreased consumption of the antioxidant glutathione. They also have decreased insulin sensitivity, smaller fat pads, and delayed hair growth as compared with control mice. Adults are severely microphthalmic, with no recognizable lens, anterior chamber, iris, or vitreous body. These mice may be useful for studying cell proliferation defects associated with blindness, osteoporosis, and stress responses. | ||
| 004585 | STOCK Cav1tm1Mls/J | Repository- Live |
| Mice that are homozygous for the targeted mutation are viable, fertile and do not display any gross physical abnormalities. Mutant mice exhibit exercise intolerance when challenged and are slightly hyperphagic. No gene product (protein) is detected by Western blot analysis in adipose, lung and heart tissues or in cultured mouse embryonic fibroblasts (MEFs). A decrease in the level of co-expressed caveolin-2 protein is immunodetected. At age 4-5 months, mutant mice are often smaller than their wildtype littermates. By one year of age, mutant mice weigh 5 to 7 grams less than wildtype, and are resistant to diet-induced obesity. Progressive adipose pathology results in reduced white adipose tissue with abnormally small adipocytes and enlarged, hyperplastic brown adipose tissue. Homozygotes display lipid metabolism and uptake disruption with elevated serum triglycerides and free fatty acid levels, and reduced leptin levels. Isolated aortic tissue segments have a diminished vasoconstriction ..... For more information please see the full phenotype on the strain data sheet | ||
| 006873 | STOCK Cebpbtm1Vpo/J | Repository- Live |
| Significant numbers of mice homozygous for this C/EBP-beta mutationon this mixed genetic background die perinatally due to hypoglycemia and a failure to mobilize glycogen. Homozygous males that survive to adulthood are fertile, but females are sterile, and display altered mammary duct formation. Macrophages isolated from homozygous mutant mice have impaired bactericidal activity. Surviving homozygotes exhibit fasting hypoglycemia, with reduced plasma insulin, plasma lipids, and free fatty acids (FFAs), and impaired hepatic glucose production. Further, they have a blunted response to glucagon and adrenaline primarily due to altered levels of hepatic cAMP production and reduced protein kinase A activity. Homozygous mice are resistant to obesity and have increased carbon dioxide production from increased metabolism in the brown adipose tissue and muscle. On a high-fat diet, homozygotes are protected from obesity and fatty liver due to reduced hepatic expression of lipogenic genes. Homozyg ..... For more information please see the full phenotype on the strain data sheet | ||
| 013702 | STOCK Cep290tm1.1Jgg/J | Repository- Live |
| Homozygous Cep290 (centrosomal protein 290) targeted mutation neonates are runted and display retinal degeneration. Normal body weight is attained 1-2 months after birth. Both male and female homozygotes are sterile. This strain may be useful in studies of retinal degeneration, cilia/flagella development and fertility. | ||
| 003392 | STOCK Crb1rd8/J | Repository- Live |
| 005992 | STOCK Efna2tm1Jgf Efna5tm1Ddmo/J | Repository- Live |
| Mice homozygous for both targeted mutations are viable, fertile, and normal in size. While the donating investigator reports that 10-20% of females homozygous at both loci neglect their litters, no such neglect is reported in the colonies at The Jackson Laboratory (Aug 2009). Double homozygous mice have no endogenous protein expression in inferior colliculus (IC) or superior colliculus (SC), and thus lack the concentration gradient created by the endogenous proteins across the midbrain in wildtype mice. Temporal and nasal retinal axon termination is severely altered: multiple ectopic aborizations in the SC indicate abnormalities in both anteroposterior and dorsoventral topography. Following surgical ablation of portions of the midbrain (including IC and SC), cross-modal innervation by retinal neurons is greater in double homozygous mutants compared to wildtype. Mice heterozygous at both loci are reported to have greater reproductive performance compared to double homozygous mice. Furth ..... For more information please see the full phenotype on the strain data sheet | ||
| 009340 | STOCK Eif2ak3tm1Dron/HotaJ | Repository- Live |
| These mice harbor a targeted mutation of the Eif2ak3 (eukaryotic translation initiation factor 2 alpha kinase 3 [also called Perk]) locus that abolishes endogenous gene expression. To date (Feb 2010), the donating investigator has not been able to generate homozygous mice on a C57BL/6J congenic background. The following phenotype describes mice on a mixed albino Swiss Webster;129/SvEv genetic background. Heterozygous mice are viable and fertile. Homozygous (Perk-/-) mice appear runty within a few days of birth and develop a rapid and progressive decline in endocrine and exocrine pancreatic function. This results in a complex pleiotropic phenotype including hyperglycemia, exocrine pancreatic insufficiency, diabetes, growth retardation, inability to breed, and early mortality. The phenotype of the Perk-/- mice is very similar to that observed in humans with Wolcott-Rallison syndrome; the consistent feature of which is severe diabetes mellitus developing in infancy. Heterozygous mi ..... For more information please see the full phenotype on the strain data sheet | ||
| 014151 | STOCK Eif2c2tm3.1Ghan/J | Repository- Live |
| A point mutation in the Eif2c2 (eukaryotic translation initiation factor 2C, 2; also called Ago2) gene inactivates catalytic activity in this strain but does not disrupt gene expression. Homozygous neonates are anemic and die shortly after birth. Mice show a loss of miR-451, a small RNA important for erythropoiesis. Heterozygous targeted mutant mice are viable and fertile. There are no known phenotypic differences between the mouse carrying the floxed neo cassette (see Stock No. 14150) and this strain from which the cassette has been deleted. This strain may be useful in studies of microRNA biogenesis and erythropoiesis. | ||
| 012916 | STOCK Epha4tm1.1Bzh/J | Repository- Live |
| These Epha4flox mutant mice possess loxP sites flanking exon 3 of the Eph receptor, A4 (Epha4) targeted gene. Mice that are homozygous for this allele are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. When these mutant mice are bred to mice that express Cre recombinase, resulting offspring will have exon 3 deleted in the process-rich layers of the hippocampus. This strain may be useful for studying axon guidance, spine morphogenesis, synaptic plasticity, neuronal circuitry (including that of the central pattern generator), neural injury and repair, vascular formation, and various cell-cell communications in and outside the nervous system. | ||
| 017445 | STOCK Epha7tm1Ud/J | Repository- Live |
| In this strain, exon 1 of the Eph receptor A7 (Epha7) gene is deleted, abolishing gene expression. Homozygotes are viable, fertile, normal in size, and do not display any gross physical or behavioral abnormalities. EPHA7 is a member of the Eph family of receptor tyrosine kinases and acts as a repellent during axonal growth, suppressing branching. EPHA7 is expressed as a gradient (anterior > posterior) in the superior colliculus (SC). Homozygous Epha7-/- mice exhibit some wiring defects in brain, where topographic mapping of both temporal and nasal axons is disturbed. These mice may be useful for studying the development of retinocollicular projection. | ||
| 010698 | STOCK Fgf2tm2Doe/J | Repository- Live |
| Mice homozygous for the Fgf2lmw-ko (Fgf2lmw or FGF2 LMWKO) allele are viable and fertile with no reported abnormalities in endothelial cell migration and proliferation. As the targeted allele disrupts expression of the fibroblast growth factor 2 low molecular weight (Fgf2 lmw) isoform, the 18 kDa isoform is not expressed (as demonstrated in brain, aorta, lung, and endothelial cells from homozygous mice). The Fgf2 high molecular weight (hmw) isoforms (20.5 and 21 kDa) are still expressed in the nucleus from the targeted allele. Homozygous mice have significantly reduced bone mineral density and fewer mineralized nodules, coincident with increased expression of the Wnt antagonist secreted frizzled receptor 1 (sFRP-1) in bone tissue. Homozygous deficiency of the Fgf2 lmw isoform is associated with significantly impaired recovery in postischemic cardiac/contractile function after ischemia-reperfusion (I-R) injury. | ||
| 008211 | STOCK Gli1tm2Alj/J | Repository- Live |
| Mice homozygous for the Gli1lz (or Gli1lacZ) allele are viable and semi-fertile, with a "knock-in" of β-galactosidase (lacZ) inserted into the first coding exon (exon 2) and replacing the genomic fragment encoding the entire N-terminal and zinc-finger domains of the targeted locus (exons 2-7); abolishing endogenous gene function even if alternative splicing occurs. Under control of the upstream promoter/enhancer elements, lacZ expression is observed in a pattern indistinguishable from wildtype gene mRNA expression. As Gli1 transcription is a readout of high level Hedgehog signaling, these Gli1lz (or Gli1lacZ) mice may be useful for studying Hedgehog/Sonic Hedgehog signaling in axis patterning, proliferation, and cell fate specification of Hedgehog responding cells at different stages of embryogenesis. | ||
| 007922 | STOCK Gli2tm2.1Alj/J | Repository- Live |
| Mice homozygous for this Gli2lzki allele harbor a β-galactosidase "knock-in" (lzki) allele that also abolishes endogenous gene function. As such, homozygous mice die at birth with many defects including absence of Sonic Hedgehog-expressing floor plate cells, reduction of Nkx2.2-expressing V3 interneurons in the spinal cord, and defects in midbrain, cerebellum and lung development. Under control of the upstream promoter/enhancer elements, lacZ expression is observed in a pattern identical to the wild-type gene. Heterozygotes are viable and fertile. These Gli2lzki mice may be useful for studying Hedgehog/Sonic Hedgehog signaling in the development of many organs (such as central nervous system and axis patterning), as well as the role of Gli2 in adult organs. | ||
| 008873 | STOCK Gli3tm1Alj/J | Repository- Live |
| Mice homozygous for this Gli3flox conditional allele are viable and fertile, with loxP sites flanking exon 8 of the targeted gene. When bred to mice that express Cre recombinase, the resulting offspring will have exon 8 deleted in the cre-expressing tissue(s). This results in a frameshift mutation upstream of the DNA-binding domain following splicing of mRNA from exon 7 to 9 and is reported to confer the null phenotype. These Gli3flox mutant mice may be useful in generating conditional mutations for studying Hedgehog/Sonic Hedgehog signaling in the development of many organs (such as central nervous system and limb patterning), as well as the role of Gli3 in adult organs.
When bred to a strain expressing Cre recombinase in the nervous system (see Stock No. 003771 for example), this mutant mouse strain may be useful in studies of mid/hind brain development. When bred to a str ..... | ||
| 017575 | STOCK Juptm1.1Glr/J | Repository- Live |
| These PGflox mutant mice possess loxP sites flanking exon 1 of the junction plakoglobin (Jup) gene. PG is a member of the armadillo protein family found in submembranous plaques of desmosomes and adherens junctions where it directly interacts with cadherins. Mutations in PG have been found in cases of Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC). Mice that are homozygous for this allele are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. When bred to mice that express tissue-specific Cre recombinase, resulting offspring will have exon 1 deleted in the cre-expressing tissues. For example, when bred to mice carrying the Tg(Myh6-cre/Esr1*)1Jmk transgene (see Stock No. 005657), PG deletion in the adult myocardium after tamoxifen induction results in progressive loss of cardiac myocytes, extensive inflammatory infiltration, fi ..... For more information please see the full phenotype on the strain data sheet | ||
| 017006 | STOCK Kdrtm2.1Jrt/J | Repository- Live |
| Mice that are heterozygous for the targeted mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. Homozygotes have an embryonic lethal phenotype, failing to develop past approximately 9.5dpc due to the lack of hematopoietic and endothelial cells. Fluorescence in heterozygous embryos is detected as early as the primitive streak stage and mimics the endogenous gene expression pattern. | ||
| 012874 | STOCK Map3k11m1J/GrsrJ | Repository- Live |
| Mice homozygous for the Map3k11m1J mutation can be identified easily as early as 3 to 4 days of age by the dorsal lines of dark red skin that run from head to tail along the spine and from left to right across the crown of the head, base of the neck in front of the shoulders, and between the base of the ribs and the pelvis. These lines fade away and by 3 weeks of age are no longer evident even when the homozygote is shaved to expose the skin. Homozygotes have necrotic dental pulp, which also improves with age. | ||
| 014120 | STOCK Mkxtm1.2Jian/J | Repository- Live |
| Mice that are homozygous for the targeted mutation are viable, fertile, normal in size and do not display any gross behavioral abnormalities. By 2 weeks of age, homozygotes have wavy tails that are obvious when the mice are running. In the tails of homozygotes, tendon morphology is abnormal (crimp patterning), smaller in size than wildtype controls and tendon insertions on vertebrae are not easily seen. Limb tendons are also smaller with abnormal morphology. Tendon fibrils from mutants exhibit smaller diameter when compared to wildtype controls as early as postnatal day 5. Tendon sheaths from homozygotes are thicker and have more cell layers than wildtype controls. | ||
| 016117 | STOCK Nogtm1.1Rmh/J | Repository- Live |
| In this strain loxP sites flank the coding region of the Noggin (Nog) gene. Homozygous mice are viable, fertile, normal in size, and do not display any gross physical or behavioral abnormalities. NOGGIN is a secreted protein involved in embryonic development including bone development, joint formation, and neural tube fusion. It also plays a role in neural induction, where it inhibits the bone morphogenetic protein (BMP)-signaling pathway. NOGGIN also inhibits Transforming growth factor (TGF)-β signal transduction by binding to TGF-β family ligands and preventing them from binding to their corresponding receptors. When bred to mice that express tissue-specific Cre recombinase, resulting offspring will not express NOGGIN in the cre-expressing tissues. This strain may be useful for studying BMP-signaling during embryonic development and in postnatal tissues.
For example, when crossed to a strain expressing Cre recombinase in embryonic cells (see ..... | ||
| 001618 | STOCK Oca2p Prop1df/J | Repository- Live |
| Mice homozygous for the Ames dwarf spontaneous mutation (Prop1df) resemble mice homozygous for the Snell's dwarf mutation (Pit1dw). Homozygous Ames dwarf mutant mice show growth retardation after the first postnatal week, and weight at 2 months is only about one-half normal. Females and most males are sterile. There is no detectable growth hormone or prolactin. Ames dwarf mice have a secondary immune deficiency presumably resulting from the lack of growth hormone. | ||
| 014141 | STOCK Prkaa1tm1.1Sjm/J | Repository- Live |
| These Prkaa1 mutant mice possess loxP sites flanking exon 3 of the protein kinase, AMP-activated, alpha 1 catalytic subunit (Prkaa1) gene. Mice that are homozygous for this allele are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. Prkaa1 belongs to the serine/threonine protein kinase family and is a catalytic subunit of the 5'-prime-AMP-activated protein kinase (AMPK). AMPK is a sensor of the energy status of cells and promotes survival during stress. When bred to mice that express tissue-specific Cre recombinase, resulting offspring will have exon 3 deleted in the cre-expressing tissues. When bred to transgenic mice expressing Cre recombinase driven by myxovirus (influenza virus) resistance 1 (Mx1) promoter/enhanced elements, PRKAA1 expression is abolished in hematopoietic cells. This strain may be useful for studying cell growth and energy expenditure. | ||
| 003081 | STOCK Ptch1tm1Mps/J | Repository- Live |
| Mice homozygous for the targeted mutation die during embryogenesis and are found to have open and overgrown neural tubes. Heterozygous patched mice are larger than wild-type littermates and have a low incidence of hindlimb defects. Some heterozygotes develop brain tumors beginning around 5 weeks of age. Heterozygotes express lacZ in a pattern mimicking endogenous gene expression pattern. Homozygous embryos display derepressed lacZ expression starting at embryonic day 8.0. | ||
| 014645 | STOCK Sec24bY613X/J | Repository- Live |
| Mice heterozygous for this ENU-induced mutation (Sec24bY613X), are viable and fertile, although the donating investigator reports that 33% of homozygous mice are dead or dying by E18.5. Sec24b is a cargo-sorting member of the core complex of the COPII endoplasmic reticulum (ER)-Golgi transport vesicle, and is critical for neural tube closure. These mice contain a premature stop codon in exon 9 of the Sec24 related gene family, member B (Sec24b) gene. Sec24bY613X homozygotes develop craniorachischisis, a fully open neural tube from the midbrain-hindbrain boundary to the most caudal end of the neural tube. These mice exhibit deficits in convergent extension and other planar cell polarity phenotypes. At E18.5, 45% of embryos exhibit omphalocele and 99% exhibit eyelid fusion failure. Also, outer and inner cochlear hair cells periodically fall out of phase and are abnormally aligned. These mutant mice may be useful in studying planar cel ..... For more information please see the full phenotype on the strain data sheet | ||
| 008212 | STOCK Smn1tm1Msd Tg(Prnp-SMN)92Ahmb Tg(SMN2)89Ahmb/J | Repository- Live |
| As described for SMA mice (see Stock No. 005024), mice homozygous for Smn1tm1Msd targeted mutation (Smn null allele) and human SMN2 transgene (SMN2 low copy line 89) exhibit symptoms, neuropathology, and early lethality similar to human type I proximal spinal muscular atrophy (SMA) patients. As an addition to that SMA model, this strain also carries the PrP-SMN transgene; with the mouse prion protein (PrP or Prnp) promoter directing full-length human SMN expression at high levels in neurons (with low expression in skeletal muscle and liver). When the PrP-SMN transgene is derived from PrP92-SMN founder mice, high SMN expression in spinal cord and brain is observed. Homozygous SMN2; Smn; Prp92-SMN mice are rescued from the severe SMA phenotype, have significantly increased lifespan (average of 210 days) and have normal lumbar motor neuron root counts. Homozygous SMN2; Smn; PrP92-SMN mal ..... For more information please see the full phenotype on the strain data sheet | ||
| 004526 | STOCK Smotm2Amc/J | Repository- Live |
| These mice possess loxP sites on either side of exon 1 of the targeted gene. Mice that are homozygous for this allele are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. When bred to a strain with the targeted null allele (Stock No. 004288) and a strain expressing Cre recombinase in the skin (Stock No. 004782), this mutant mouse strain may be useful in studies of hedgehog signalling and cell proliferation in the dental epithelium. When bred to a strain with the targeted null allele (Stock No. 004288) and a strain expressing Cre recombinase in the nervous system (Stock No. 003771), this mutant mouse strain may be useful in studies of hedgehog signalling and cerebellar foliation. When bred to ..... | ||
| 012940 | STOCK Snta1tm1Scf/J | Repository- Live |
| In this strain, exon 1 of the endogenous mouse syntrophin, acidic 1 (Snta1) gene is replaced with a neo cassette abolishing gene function. Mice homozygous for the Snta1 allele are viable and fertile. Homozygotes tend to be small at 3 weeks of age and the Donating Investigator reports weaning the mice at 4 weeks. Neuromuscular junctions in homozygous Snta1-/- mice have undetectable levels of postsynaptic utrophin, reduced levels of acetylcholine receptor and acetylcholinesterase, shallow nerve gutters, abnormal distributions of acetylcholine receptors, and postjunctional folds that are generally less organized and have fewer openings to the synaptic cleft than controls. Snta1-/- mice also exhibit a mislocalization of the water channel aquaporin-4 (AQP4) at the blood-brain barrier leading to reduced edema and infarct volume in brain trauma models, and reduced K+ clearance from the neuropil leading to increased seizure and stroke susceptibilit ..... For more information please see the full phenotype on the strain data sheet | ||
| 013093 | STOCK Sox2tm1.1Lan/J | Repository- Live |
| These Sox2flox mutant mice possess loxP sites flanking the coding exon of SRY-box containing gene 2 (Sox2). Mice that are homozygous for this allele are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. When bred to mice that express tissue-specific Cre recombinase, the resulting offspring will have no Sox2 expression in cre-expressing tissues. This strain may be useful for studying eye and lens development. | ||
| 014143 | STOCK Stk11tm1.1Sjm/J | Repository- Live |
| These Stk11 mutant mice possess loxP sites flanking exons 3-6 of the serine/threonine kinase 11 (Stk11) gene. Mice that are homozygous for this allele are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. Stk11 is a member of the serine/threonine kinase family and regulates cell polarity and cell division, and controls cell energy expenditure. When bred to mice that express tissue-specific Cre recombinase, resulting offspring will have exons 3-6 deleted in the cre-expressing tissues. When bred to transgenic mice expressing Cre recombinase driven by myxovirus (influenza virus) resistance 1 (Mx1) promoter/enhanced elements, STK11 expression is abolished in hematopoietic cells. This strain may be useful for studying cell growth and tumor suppression.
For example, when crossed to a strain expressing tamoxifen-inducible Cre recombinase (see Stock No. For more information please see the full phenotype on the strain data sheet | ||
| 012719 | STOCK Tgfb3tm1(cre)Vk/J | Repository- Live |
| Mice heterozygous for the Tgfb3-cre allele are viable, fertile, and normal in size. Homozygotes die at birth due to cleft palate. Expression of Cre recombinase is driven by the transforming growth factor β 3 (Tgfb3) locus. Specifically, Cre recombinase expression is observed in the heart, pharyngeal arches, otic vesicle, mid brain, limb buds, midline palatal epithelium, and whisker follicles during embryo and fetus development. When these transgenic mice are bred with mice containing a loxP-flanked sequence, Cre-mediated recombination results in deletion of the floxed sequences in the Cre-expressing tissues of the offspring. This strain may be useful for studying the palatal epithelium during facial development and the vasculature of the central nervous system.
View cre expression characterization. | ||
| 010911 | STOCK Wt1tm1(EGFP/cre)Wtp/J | Repository- Live |
| Homozygous mice die between embryonic day (E)13.5 and birth with defects of heart, kidney, gonads, and multiple other organs. Heterozygous (Wt1GFPCre/+) mice are viable and fertile. The Wt1GFPCre "knock-in" allele both abolishes Wt1 gene function and expresses an enhanced green fluorescent protein-Cre recombinase fusion protein (EGFPCre) from the Wt1 promoter/enhancer elements. In heart from heterozygous mice, EGFPCre expression is directed to proepicardium and epicardium from E9.5 to E15.5, and is not found in the myocardium. When bred to mice containing loxP-flanked sequences, the resulting offspring will have Cre-mediated deletion of the floxed sequences in the Wt1-expressing cells (and their descendants). As Wt1 is expressed in the developing genitourinary system and in the mesothelia overlying most visceral organs, these mutant mice may be useful as fluorescent/Cre-lox tools for lineage-tracing/marking Wt1-expressin ..... For more information please see the full phenotype on the strain data sheet | ||
| 010912 | STOCK Wt1tm2(cre/ERT2)Wtp/J | Repository- Live |
| Homozygous mice die between embryonic day (E)13.5 and birth with defects of heart, kidney, gonads, and multiple other organs. Heterozygous (Wt1CreERT2/+) mice are viable and fertile. The Wt1CreERT2 "knock-in" allele both abolishes Wt1 gene function and has expression of the CreERT2 fusion protein (CreERT2) under control of the Wt1 promoter/enhancer elements. In heart from heterozygous mice, CreERT2 expression is directed to proepicardium and epicardium from E9.5 to E15.5, and is not found in the myocardium. CreERT2 fusion gene activity is inducible; observed following tamoxifen administration. As such, when Wt1CreERT2 mice are bred with mice containing loxP-flanked sequence, tamoxifen-inducible Cre-mediated recombination will result in deletion of the floxed sequences in the Wt1-expressing cells of the offspring. The donating investigator reports that Cre activity may be observed prior to tamoxifen exposure only in ..... For more information please see the full phenotype on the strain data sheet | ||
| 006857 | STOCK ne/J | Repository- Live |
| Mice homozygous for the no eyelid mutation have a range of phenoytpes with varying penetrance including missing eyelid, closed eyelids, microphthalmia, ocular deformities, malformed digits, malformed ear pinnae, renal agenesis, and slight discoloration of the fur on the head. | ||
| 005938 | STOCK Tg(Eno2-cre)39Jme/J | Repository- Live |
| Mice hemizygous for this NSE39-Cre transgene are viable, fertile, normal in size, and do not display any gross physical or behavioral abnormalities. These NSE39-Cre mice harbor a transgenic insert consisting of the cre recombinase gene under the control of the promoter region of the rat neuron specific enolase (NSE or Eno2) gene. As such, Cre recombinase activity is directed to neurons with expression in many tissue types. When bred with mice containing a loxP-flanked sequence of interest, Cre-mediated recombination will result in deletion of the flanked genome.
Specifically, these NSE39-Cre transgenic mice may also be useful in studies of spinal muscular atrophy (SMA) along with mice harboring a conditional (floxed) Smn1 gene (see Stock No. 006138 or Stock No. 006146).
Additional SMA strains expressing cre in striated muscle are av ..... For more information please see the full phenotype on the strain data sheet | ||
| 004623 | STOCK Tg(Fos-lacZ)34Efu/J | Repository- Live |
| These TOPGAL transgenic mice are a reporter strain that express Beta-galactosidase in the presence of the lymphoid enhancer binding factor 1/transcription factor 3 (LEF/TCF) mediated signaling pathway and activated Beta-catenin. The transgene contains the lacZ gene under the control of a regulatory sequence consisting of three consensus LEF/TCF-binding motifs upstream of a minimal c-fos promoter. Transgenic mice display TOPGAL activity (Beta-galactosidase activity) during early embryonic development in a subset of pluripotent embryonic basal cells of the epithelium and dermis of developing hair follicles, but not during the next stage of hair follicle development; formation of hair germs. TOPGAL transgene activity reappears in hair follicles at E16.5 and TOPGAL expression is strongly upregulated in the postnatal hair shaft precursor cells in both whisker and body hair anagen follicles (active periods of hair growth). TOPGAL expression ceases during catagen (regression and ..... For more information please see the full phenotype on the strain data sheet | ||
| 004782 | STOCK Tg(KRT14-cre)1Amc/J | Repository- Live |
| Mice hemizygous for the transgenic insert are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. These transgenic mice express the Cre recombinase under the control of the human keratin 14 promoter. Cre transcript is detected in the skin. When crossed to a reporter line containing Gt(ROSA)26Sortm1Sor, Beta-galactosidase activity is detected in the oral ectoderm at 11.75 dpc, and at 14.5 dpc activity is detected in the skin and throughout the dental epithelium. This strain represents an effective tool for generating tissue-specific targeted mutants that would be useful to study developmentally critical gene function in the ectoderm and its derivatives.
View cre expression characterization. | ||
| 005107 | STOCK Tg(KRT14-cre/ERT)20Efu/J | Repository- Live |
| These transgenic mice have a tamoxifen inducible Cre-mediated recombination system driven by the human keratin 14 (KRT14) promoter. The transgene insert contains a fusion product involving Cre recombinase and a mutant form of the mouse estrogen receptor ligand binding domain. The mutant mouse estrogen receptor does not bind natural ligand at physiological concentrations but will bind the synthetic ligand, 4-hydroxytamoxifen (tamoxifen). Restricted to the cytoplasm, the cre/Esr1 protein can only gain access to the nuclear compartment after exposure to tamoxifen. When crossed with a strain containing a loxP site flanked sequence of interest, the offspring are useful for generating tamoxifen-induced, Cre-mediated targeted keratinocyte-specific deletions. Oral tamoxifen administration induces Cre recombination in toe, back skin and tongue. Topically administered tamoxifen induces Cre-mediated recombination in a specific localized area of the skin, occuring in 50 to 60% of the ..... For more information please see the full phenotype on the strain data sheet | ||
| 005650 | STOCK Tg(Myh6-cre/Esr1*)1Jmk/J | Repository- Live |
| The alpha-MHC-MerCreMer transgene has the mouse Myh6 promoter (myosin, heavy polypeptide 6, cardiac muscle, alpha; alpha-MHC) directing expression of a tamoxifen-inducible Cre recombinase (MerCreMer) to juvenile and adult cardiac myocytes. Mice homozygous for the alpha-MHC-MerCreMer transgene are viable, fertile, normal in size, and do not display any gross physical or behavioral abnormalities. Cre recombinase expression in heart tissue is confirmed by western blot. Southern blot confirmed heart cell specificity compared to brain, kidney, lung, liver, and skeletal muscle. Insertion of this transgene and its protein show no changes in echocardiography, heart mass or pathology, or hypertrophy marker genes compared to nontransgenic littermates. Of note, the MerCreMer double fusion protein has substantially greater Cre recombinase activity with less promiscuity compared with the CreMer single fusion protein. When alpha-MHC-MerCreMer transgenic mice are bred with mice containing For more information please see the full phenotype on the strain data sheet | ||
| 016572 | STOCK Tg(Myh6/tetO-Gata4)1Jmol/J | Repository- Live |
| These Gata4 transgenic mice contain GATA binding protein 4 (Gata4) sequence regulated by a tetracycline operator (tetO), driven by myosin, heavy polypeptide 6, cardiac muscle, alpha (Myh6 or α-MHC) promoter/enhancer elements. Hemizygotes are viable, fertile, and normal in size. α-MHC limits overexpression of Gata4 to the heart. GATA4 is a zinc-finger-containing transcription factor expressed in cardiomyocytes and has a role in regulating the expression of genes involved in cardiac differentiation. When mated to a mutant strain expressing tetracycline-controlled transactivator protein (tTA), expression of GATA4 protein may be controlled by the administration of tetracycline or its analog doxycycline in bi-allelic offspring. For instance, when bred to mice expressing tTA driven by the α-MHC promoter, double transgenic animals exhibit an increase in myocardial capillary densities, coronary flow reserve, and p ..... For more information please see the full phenotype on the strain data sheet | ||
| 009606 | STOCK Tg(Six2-EGFP/cre)1Amc/J | Repository- Live |
| Hemizygous Six2-TGCtg mice are viable and fertile, harboring a BAC transgene with a Tet-off-eGFPCre under control of the Six2 promoter/enhancer regions within the BAC transgene. The Tet-off-eGFPCre contains both the tetracycline-controlled transactivator protein (tTA) as well as the tetracycline operator (tetO; also called tetracycline-responsive element [TRE] or tet-operator) upstream of an EGFPCre fusion protein. Sequence updates published after this transgene was created revealed an upstream Six2 ATG start site that is in-frame with the tTA; thus an apparent and unintended fusion was created with the tTA (80 amino acids potentially added) that renders transgene expression unaffected by tetracycline/doxycycline administration. It is not known whether the "mutant" tTA is resistant to tetracycline/doxycycline inactivation and still binds to TRE to activate EGFPCre expression or if the TRE acts as a minimal promoter adjacent to the Six2 promoter in the pr ..... For more information please see the full phenotype on the strain data sheet | ||
| 013752 | STOCK Tg(TCF/Lef1-HIST1H2BB/EGFP)61Hadj/J | Repository- Live |
| TCF/Lef:H2B-GFP transgenic mice express an H2B-EGFP fusion protein (coding sequence for the human HIST1H2BB gene [histone 1 H2bb] followed C-terminally by Enhanced Green Fluorescent Protein gene) under the control of six copies of a T cell specific transcription factor/lymphoid enhancer-binding factor 1 (TCF/Lef1) response element and a heat shock protein 1B (Hspa1b) minimal promoter. Mice homozygous for the transgene are viable, fertile, and normal in size. Wnt (wingless-related MMTV) family members are required for triggering embryonic axis formation and for proper development. Wnt signaling results in phosphorylation and nuclear localization of β-catenin, a transcriptional co-activator protein, which, together with the TCF/Lef family of transcription factors, induces the transcription of downstream genes. TCF/Lef:H2B-GFP transgenic mice contain 6 copies of nuclear localized TCF/Lef1 DNA binding sites, which provides increased sensitivity to Wnt/&be ..... For more information please see the full phenotype on the strain data sheet | ||
| 016236 | STOCK Tg(TCF/Lef1-cre/ERT2)1Dje/J | Repository- Live |
| TopCreERT2 transgenic mice express a CreERT2 fusion protein under the control of three copies of a T cell specific transcription factor/lymphoid enhancer-binding factor 1 (TCF/Lef1) response element and a c-fos minimal promoter. Mice hemizygous for the transgene are viable, fertile, and normal in size. Wnt (wingless-related MMTV) family members are required for triggering embryonic axis formation and for proper development. Wnt signaling results in phosphorylation and nuclear localization of β-catenin, a transcriptional co-activator protein, which, together with the TCF/Lef family of transcription factors, induces the transcription of downstream genes. TopCreERT2 transgenic mice contain three copies of nuclear localized TCF/Lef1 DNA binding sites, which provides increased sensitivity to Wnt/β-catenin signaling. Cre-ERT2 fusion gene activity is inducible; observed at high levels following tamoxifen administration. When TopCreERT2 transgenic m ..... For more information please see the full phenotype on the strain data sheet | ||
| 003658 | STOCK Tg(TIE2GFP)287Sato/J | Repository- Live |
| This strain expresses Green Fluorescent Protein (GFP) under the direction of the endothelial-specific receptor tyrosine kinase (Tek, formerly, Tie2) promoter. Endothelial cells expressing GFP can be visualized via fluorescent microscopy or purified by FACS. | ||
| 003829 | STOCK Tg(Wnt1-cre)11Rth Tg(Wnt1-GAL4)11Rth/J | Repository- Live |
| When homozygous for both co-injected transgenes, Wnt-1/GAL4/cre-11 transgenic mice are viable, fertile, normal in size and do not display any gross physical abnormalities. Both Cre recombinase and the GAL4 transcriptional activator are expressed under the direction of wingless-related MMTV integration site 1 (Wnt1) promoter/regulatory sequences. Cre recombinase activity is detected in the Wnt1 pattern of expression: in the midbrain by 8.5 dpc and, after neural tube closure, in the dorsal and ventral midlines of the midbrain and caudal diencephalon, midbrain-hindbrain junction and dorsal spinal cord. When Wnt-1/GAL4/cre-11 transgenic mice are bred to mice containing loxP site-flanked sequences, cre-mediated recombination results in deletion of the floxed sequences in the midbrain and developing neural tube of the resulting offspring. | ||
| 005865 | STOCK Tg(YACW408A5)1952Ricc/J | Repository- Live |
| Hemizygous offspring from wild type mothers and transgenic fathers are viable, fertile, and normal in size. The imprinted methylation pattern on this transgene is dependent on maternal or paternal transgene inheritance, and is faithful to normal patterns with the following exceptions; defective methylation of Tssc4 and improper imprinting of Tssc4 and Ascl2. Fetal growth restriction is observed following maternal, but not paternal, transmission of the transgene. This phenotype is a characteristic of maternal duplication of chromosome 11p15.5. In addition, this mouse may also be useful in studying Beckwith-Wiedemann syndrome, imprinting/methylation mechanisms, and differentially methylated regions. | ||
| 000693 | WC/ReJ KitlSl/J | Repository- Live |
| The multiple steel mutations (KitlSl) behave in a semidominant fashion and cause deficiencies in pigment cells, germ cells, and blood cells paralleling those caused by the Kit locus mutations (dominant spotting alleles). Most of the alleles at steel locus cause severe anemia in utero and death by 15 to 16 days of gestation in homozygous mutant mice. However, compounds of two steel mutants (e.g. KitlSl/KitlSl-d) are viable, black-eyed white, are usually sterile in one or both sexes, and have severe macrocytic anemia. Heterozygous steel mice have a diluted coat color with a small amount of white spotting, are viable and fertile, and may have a slight macrocytic anemia. Primordial germ cells are absent in the nonviable steel homozygotes and severely reduced in steel heterozygotes. Mast cells are virtually absent in skin and other tissues of steel mutant mice. Tumors tend to develop in germ-cell-deficient ovaries with advancing ..... For more information please see the full phenotype on the strain data sheet | ||
| 100401 | WCB6F1/J-KitlSl/KitlSl-d | Repository- Live |
| The multiple steel mutations (KitlSl) behave in a semidominant fashion and cause deficiencies in pigment cells, germ cells, and blood cells paralleling those caused by the Kit locus mutations (dominant spotting alleles). Many steel alleles cause severe anemia resulting in death in utero of homozygous mutant mice. However, mice homozygous for some steel mutations and compound heterozygotes for two steel alleles (e.g., KitlSl/KitlSl-d) are viable and have black eyes and a white coat; they have severe macrocytic anemia, and both sexes are usually sterile due to failure of germ cells to migrate correctly during development. Mice heterozygous for a single steel mutation have diluted coat color with a small amount of white spotting, are viable and fertile, and may have a slight macrocytic anemia. Primordial germ cells are absent in the nonviable steel homozygotes and severely reduced in steel heterozygotes. Mast cells are virtuall ..... For more information please see the full phenotype on the strain data sheet | ||
| 017340 | 129S-Maoatm1Shih/J | Under Development - Now Accepting Orders |
| 013046 | 129S6/SvEv-Liastm1Mae/J | Under Development - Now Accepting Orders |
| The Liastm1Mae mutant allele has the exons 4-6 of the of the lipoic acid synthetase (Lias) gene deleted. The deleted region encodes the functionally conserved Cys motifs of the enzyme responsible for converting octanoic acid to α-lipoic acid (also called 1,2-dithiolane-3-pentanoic acid, thioctic acid, ALA, or LA) via insertion of a sulfur atom into the hydrocarbon chain of octanoic acid. Lias mRNA expression in heterozygous mice is approximately half of wildtype levels. Lias homozygous mice die in utero shortly after implantation. When heterozygous dams are fed an exogenous racemic α-lipoic acid diet (equal amounts of left- and right-handed enantiomers of the chiral α-lipoic acid molecule), embryonic lethality of homozygous embryos is not rescued. Heterozygous mice are viable and fertile, with a mild reduction of plasma antioxidant capacity. Inducing stress conditions (such as inflammation, hypercholesterolemia and hyperglycemia) is exp ..... For more information please see the full phenotype on the strain data sheet | ||
| 017482 | B6.129(Cg)-Cntnap2tm1Pele/J | Under Development - Now Accepting Orders |
| No gene product (mRNA or protein) is detected by RT-PCR, Western blot, or immunoprecipitation analysis of brain tissue from homozygous Cntnap2 (contactin associated protein-like 2) knockout animals. Homozygous mice older than 6 months of age exhibit handling-induced and spontaneous seizures.
Abnormal organization of neurons in the cortex and fewer parvalbumin-positive interneurons in the hippocampus are observed in homozygotes. Homozygotes exhibit an asynchronous neuronal firing pattern, but no defects in peripheral and central nerve conductance. Homozygotes also display hyperreactivity in open field tests and to thermal sensory stimuli. In buried food olfaction analysis, homozygotes perform better than wildtype controls. Fewer ultrasonic vocalizations are observed in homozygous pups. Mutant mice exhibit impaired social behavior: less interaction, increased grooming and digging, impaired nest building. Risperidone (atypical antipsychotic drug) treatment reduced the pheno ..... For more information please see the full phenotype on the strain data sheet | ||
| 017601 | B6.129-Eif2s1tm1Rjk/J | Under Development - Now Accepting Orders |
| The Eif2aS51A mutation in these mice prevents phosphorylation of the α subunit of eIF2. Phosphorylation of eIF2α in the endoplasmic reticulum (ER) is required for translational regulation, transcriptional induction, and survival in response to ER stress. EIF2α translational regulation is also required for the maintenance of blood glucose and pancreatic insulin content. Homozygotes die within 18 hr after birth due to hypoglycemia associated with defective gluconeogenesis. Homozygous mutant embryos and neonates displayed a deficiency in pancreatic β cells and an increase in circulating insulin. Heterozygotes are viable and fertile. On a high fat diet, heterozygous mice develop diabetes due to unregulated proinsulin translation. These mice also exhibit defective ER cargo trafficking, increased oxidative damage, reduced expression of stress response and beta-cell-specific genes, and apoptosis. | ||
| 012443 | B6.129-Snrpntm2Cbr/J | Under Development - Now Accepting Orders |
| When females heterozygous for the PWS-ICdel mutation are bred with wildtype males, the resulting offspring are viable and fertile as adults. In contrast, paternal transmission of the PWS-ICdel mutation results in neonatal lethality between 1-7 days of age (failure to thrive) due to imprinting defects. Most of these pups will die within 48 hours, however, a few live to 7 days. Pups are underweight, unable to support themselves, dehydrated and weak. Although capable of nursing, little milk is observed in their stomachs and they develop low blood glucose levels. Of note, removing all but one wildtype littermate improves mutant mouse survivability. In addition, mutant mouse viability may be greatly improved by outcrossing to FVB/NJ females. These PWS-ICdel mutant mice may be useful in studying the Prader Willi syndrome imprinting center.
In an attempt to offer alleles on well-characterized or multiple genetic backgrounds, alleles are frequently m ..... | ||
| 016931 | B6.129P2(Cg)-Slc17a8tm1Edw/J | Under Development - Now Accepting Orders |
| An enhanced green fluorescent protein (EGFP) replaces most of exon 2 of the solute carrier family 17, member 8 (Slc17a8 or Vglut3) gene in these mice. Gene function is abolished. EGFP signal is not detected. Homozygotes are viable, fertile, and normal in size. VGLUT3 is a vesicular glutamate transporter that mediates synaptic transmission by transporting the neurotransmitter, glutamate, into secretory vesicles. In wildtype mice, VGLUT3 is expressed by inner hair cells of the cochlea, by serotonergic neurons, cholinergic neurons, a particular subset of primary sensory afferents (low-threshold mechanoreceptors), a subset of GABAergic interneurons, and a variety of other cell populations, some not known to use glutamate as a transmitter. These VGLUT3 deficient mice are deaf and exhibit epileptic seizures with little change in motor behavior. | ||
| 013144 | B6.129P2-Aim2Gt(CSG445)Byg/J | Under Development - Now Accepting Orders |
| This secretory trap mutation abolishes Aim2 (endogenous absent in melanoma 2) gene function while expressing an Aim2/LacZ/neo (β-geo) fusion protein. AIM2 is a proinflammatory protein which is a critical part of the inflammasome. LacZ is expressed from the targeted allele in thioglycolate-elicited macrophages (TEMs), bone marrow-derived macrophages (BMDMs), and splenocytes. Homozygous mice are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. These Aim2-/- mice may be useful as a lacZ reporter for AIM2 expression or as a knockout model for studying the innate immune systems response to bacterial and viral infection. | ||
| 016224 | B6.129S(Cg)-Id2tm2.1Blh/ZhuJ | Under Development - Now Accepting Orders |
| The Id2-EGFP knockin allele was designed to both abolish inhibitor of DNA binding 2 (Id2) gene function and express enhanced green fluorescent protein (eGFP) from the Id2 promoter/enhancer elements. No mRNA or protein expression from the Id2-eGFP allele is observed. The donating investigator reports that homozygote mice mice are runted with defective lung alveolarization. Other organ systems have not been evaluated. However, Id2-eGFP homozygotes may be expected to exhibit the same phenotype as mice homozygous for other null mutations of this gene (including postnatal lethality and defects of the immune system, digestive tract, kidneys, adipose tissue and mammary gland development). The donating investigator also reports eGFP expression recapitulates the endogenous Id2 expression pattern. In the lungs, immunohistochemical detection of eGFP recapitulates the epithelial expression of the endogenous gene (distal tip lung epithelial multipotent precursor cells of the ..... For more information please see the full phenotype on the strain data sheet | ||
| 017293 | B6.129S1(Cg)-Eomestm1.1Bflu/J | Under Development - Now Accepting Orders |
| These Eomesfl/fl mutant mice possess loxP sites flanking exon 2 of the eomesodermin homolog (Eomes) gene. Mice that are homozygous for this allele are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. EOMES is a member of the T-box family of transcription factors which is expressed in CD8+ T cells, CD4+ T cells, natural killer (NK) cells, and embryonic forebrain floorplate and migrating neuroblasts. EOMES is involved in embryonic development of the central nervous system and mesoderm, and plays a key role in CD44 expression, CD8+ T cell effector function and anticancer responses. When bred to mice that express tissue-specific Cre recombinase, resulting offspring will have exon 2 deleted in the cre-expressing tissues. This strain may be useful for studying T cell-mediated immune response, immune surveillance and editing, and embryonic development. | ||
| 014090 | B6.129S2-Rbfox2tm1.1Dblk/J | Under Development - Now Accepting Orders |
| These Fox-2flox mutant mice possess loxP sites flanking exons 6-7 of the RNA binding protein, fox-1 homolog 2 (Rbfox2) gene. Mice that are homozygous for this allele are viable, fertile, and normal in size. Fox-2 is widely expressed, highest in brain and heart, and regulates alternative splicing in vertebrates by binding specifically to (U)GCAUG sequences. When these mutant mice are bred to mice that express Cre recombinase, the resulting offspring will have exons 6-7 deleted in the Cre-expressing tissue, resulting in inactivation of Fox-2 gene function. | ||
| 016092 | B6.129S4-Git1Gt(FHCRC-GT-S10-12C1)Sor/WeisJ | Under Development - Now Accepting Orders |
| A targeting vector containing β-galactosidase, a polyadenylation signal, and a PGK Hygromycin selection cassette, was randomly inserted downstream of exon 1 of the endogenous G protein-coupled receptor kinase-interactor 1 (Git1) gene. Heterozygous mice are viable, normal in size and do not display any gross physical or behavioral abnormalities, although some males have decreased fertility. Homozygous mice die within a few days after birth. This β-geo secretory trap mutation abolishes endogenous gene function and expresses a Git1-exon1/lacZ fusion protein. Git1 belongs to the family of ADP-ribosylation factor GTPase-activating proteins (ARF-GAP) and has been implicated in the regulation of G protein-coupled receptor sequestration, cell migration, neuronal spine formation, and aggregate formation in Huntington's disease. GIT1 expression is restricted to some areas of the brain, to cells lining blood vessels, bronchi, and bile ducts. Expression of GIT1 is absent ..... For more information please see the full phenotype on the strain data sheet | ||
| 017603 | B6.129S6(129S4)-Tfpitm1.1Rdsi/J | Under Development - Now Accepting Orders |
| The TFPIFlox allele has loxP sites flanking exon 4 of the tissue factor pathway inhibitor gene [Tfpi]. Homozygous TFPIFlox mice are viable and fertile with no observed abnormalities. When bred to mice that express Cre recombinase, the resulting offspring will have the sequences encoding the Kunitz 1 domain of TFPI protein (TFPI-K1) deleted in the cre-expressing tissues. This is designed to result in a K1-deleted form of TFPI containing the remainder of the TFPI protein (and to affect all K1-containing isoforms including TFPIα, TFPIβ, and TFPIγ).
For example, when TFPIFlox mice are bred to a strain expressing Cre recombinase in embryonic tissues (CMV-Cre; see Stock No. 006054), the resulting mice with pan deletion of the TFPI-K1 domain exhibit complete prenatal lethality; this is similar to mice homozygous for the TFPI knockout allele. In additio ..... | ||
| 017765 | B6.129S7(Cg)-Ube3atm2.1Alb/J | Under Development - Now Accepting Orders |
| The Ube3a (ubiquitin protein ligase E3A or E6-AP) knockin allele has YFP (Yellow Fluorescent Protein) fused to exon 10 of the Ube3a locus. Due to imprinting, E6-AP:YFP is preferentially expressed from the maternal allele at high levels in cortical and hippocampal pyramidal neurons and at lower levels in Purkinje cells and cerebellar neurons. YFP expression from the paternal allele is only faintly detected in these cells. E6-AP:YFP is biallelicly expressed in the glial cells lining the lateral ventricles. The fusion protein localizes both to the nucleus and to presynaptic and postsynaptic compartments in cultured hippocampal neurons. These E6-AP:YFP mutant mice carry a maternally imprinted Ube3a (ubiquitin protein ligase E3A) knockin fluorescent reporter and may be useful in imaging studies of Angelman syndrome. | ||
| 016914 | B6.129S7-Del(7Slx1b-Sept1)4Aam/J | Under Development - Now Accepting Orders |
| These mutant mice possess an engineered deletion spanning approximately 0.39 Mb on mouse Chromosome 7. The region involved encompasses a chromosomal segment, between the GIY-YIG domain containing 2 (Giyd2) gene and the septin 1(Sept1) loci, that shares conserved synteny with the Autism spectrum disorders critical interval on human Chromosome 16 (the 16p11.2 region). Mice carrying one copy of the deletion prove to be viable while mice homozygous for the deletion are embryonic lethal. These mice exhibit neuroanatomical and behavioral phenotypes reminiscent of human autism. This mutant mouse may be useful in studying Autism and other associated disorders.
(Mice bearing the reciprocal duplication are also available (see Stock No. 013129)) In an attempt to offer alleles on well-characterized or multiple genetic backgrounds, alleles are frequently moved to a genetic background different from that on which ..... | ||
| 017722 | B6.Cg-Tg(Tal1-tTA)19Dgt/J | Under Development - Now Accepting Orders |
| Hemizygotes are viable, fertile, normal in size, and do not display any behavioral abnormalities. Hemizygotes express tetracycline-controlled transactivator protein (tTA) in bone marrow hematopoietic stem cells (HSC) and in common myeloid progenitors (CMP)). tTA activity also is detected in lung. Little to no tTA activity is detected in thymus, lymph node, intestine or spleen. When bred to other transgenic mice carrying a gene of interest coupled to a tetracycline-responsive promoter element (TRE; tetO), expression of the target gene in the bitransgenic offspring can be induced by withdrawal of tetracycline or doxycycline. This strain represents an effective tool for generating bitrangenic animals to study inducible gene expression in blood stem and progenitor cells. In an attempt to offer alleles on well-characterized or multiple genetic backgrounds, alleles are frequently moved to a genetic background different from that on which an allele was first characterized. This is the cas ..... | ||
| 016832 | B6.FVB(129)-Tg(Alb1-cre)1Dlr/J | Under Development - Now Accepting Orders |
| The Alb1-cre transgene was designed with a Cre recombinase gene under control of albumin (Alb) promoter/enhancer elements. Hemizygous Alb1-cre mice are viable, fertile, and normal in size, with cre expression directed specifically to the liver. When these transgenic mice are bred with mice containing a loxP-flanked sequence, Cre-mediated recombination is expected to result in deletion of the floxed sequences in the Cre recombinase-expressing hepatic cells of the offspring. For example, when these mice are bred to Igf1tm1Dlr-containing mice (Stock No. 012663 or Stock No. 016831), the removal of IGF1 expression in the liver causes a 75% reduction in serum IGF-1levels. These mice may be useful for studying the liver specific deletion of target genes. | ||
| 016913 | B6;129P2-Gmnntm1Tjm/J | Under Development - Now Accepting Orders |
| These mice possess loxP sites flanking exons 5-7 of the geminin (Gmnn) gene. Homozygotes are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. Geminin is a regulatory protein involved in cell division and differentiation in the central nervous system, the axial skeleton, and the eye. When these mutant mice are bred to mice that express Cre recombinase, resulting offspring will have exons 5-7, encoding the dimerization domain and Cdt1 (chromatin licensing and DNA replication factor 1) binding site, deleted in the cre-expressing tissue. For example, when crossed to mice expressing cre driven by the myxovirus (influenza virus) resistance 1 (Mx1) promoter (see Stock No. 003556 for example), resulting offspring will lack Geminin in bone marrow cells. In such mice, red blood cell and leukocyte production is decreased and megakaryocyte production ..... For more information please see the full phenotype on the strain data sheet | ||
| 017593 | B6;129S-Sox2tm1(cre/ERT2)Hoch/J | Under Development - Now Accepting Orders |
| These Sox2-CreER knockin mice have the SRY-box containing gene 2 (Sox2) open reading frame replaced with a CreERT2 fusion gene. Sox2 is a widespread marker of pluripotent and many adult stem/progenitor cell types. Heterozygous mice are viable and fertile, while homozygous mice exhibit embryonic lethality. Following tamoxifen administration, Cre-ERT2 activity is observed in adult epithelial tissues; including testes, forestomach, glandular stomach, anus, cervix, esophagus, and lens, as well as glands associated with oral cavity, trachea, and cervix. When these mice are bred with mice containing loxP-flanked sequence, tamoxifen-inducible, Cre-mediated recombination will result in deletion of the floxed sequences in the cre-expressing cells of the offspring. Cre-ERT2 activity is also detected in blastocysts, neural progenitor cells, and embryonic stem cell cultures following tamoxifen administration. These mice may be useful for stud ..... For more information please see the full phenotype on the strain data sheet | ||
| 017592 | B6;129S-Sox2tm2Hoch/J | Under Development - Now Accepting Orders |
| An enhanced green fluorescent protein (EGFP) gene replaces the SRY-box containing gene 2 (Sox2) open reading frame in these knockin mice. SOX2 is a widespread marker of pluripotent and many adult stem/progenitor cell types. In these mice, strong EGFP expression is detected in blastocysts, neural progenitor cells, and embryonic stem cell cultures. In addition, EGFP expression is observed in adult epithelial tissues including testes, forestomach, glandular stomach, anus, cervix, esophagus, lungs, tongue, and lens, as well as glands associated with oral cavity, trachea, and cervix. Heterozygous mice are viable and fertile, while homozygous mice exhibit embryonic lethality. These fluorescent reporter mice may be useful for studying common target genes and pathways in maintaining the self-renewal and differentiation potential of these cells. | ||
| 016878 | B6;129S4-Bmp4tm1Jfm/J | Under Development - Now Accepting Orders |
| Mice homozygous for this Bmp4floxneo allele have loxP sites flanking exon 4 of the targeted gene. When bred to mice that express Cre recombinase, the resulting offspring will have the sequences encoding the endogenous mature peptide deleted in the cre-expressing tissues resulting in a null allele. Mice homozygous for the Bmp4floxneo allele are viable and fertile. These mutant mice may be useful in generating conditional mutations for studying the role of Bmp4 in bone morphogenetic protein signaling pathways, bone biology, cardiovascular biology, and cancer (Bmp4 misregulation is associated with cancer cell motility/invasiveness and epithelial-to-mesenchymal transition/transformation [EMT]).
For example, when crossed to a strain expressing Cre recombinase in early limb bud mesenchyme and in a subset of craniofacial mesenchyme (see Stock No. 005584), this mutant mouse ..... | ||
| 014551 | B6;129S4-Dlx1tm1(cre/ERT2)Zjh/J | Under Development - Now Accepting Orders |
| The Dlx1-CreER (Dlx1-CreERT2) knock-in allele was designed to both abolish distal-less homeobox 1 locus (Dlx1) gene function and expresses CreERT2 fusion protein from the Dlx1 promoter/enhancer elements. Cre-ERT2 fusion gene activity is inducible; observed following tamoxifen administration. As such, when Dlx1-CreERT2 mice are bred with mice containing loxP-flanked sequences, tamoxifen-inducible Cre-mediated recombination will result in deletion of the floxed sequences in the Dlx1-expressing cells of the offspring.
Heterozygous mice are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. While the donating investigator has not characterized the phenotype of homozygous Dlx1-CreER mice, they may be expected to have the same phenotype as other null mutations of this gene (abnormal craniofacial development, cleft palate, and premature death). Expression of Dlx1 mRNA or protein from the Dlx1-CreER m ..... | ||
| 017583 | B6;129S4-E4f1tm1Pisc/J | Under Development - Now Accepting Orders |
| Mice that are heterozygous for the targeted mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. Homozygotes have an embryonic lethal phenotype. Although homozygous embryos are similar in size to wildtype controls at E3.5, by E4.5 homozygous embryos exhibit delayed growth. At E5.5, homozygous embryos are completely resorbed or reduced in size with abnormal morphology. Cultured homozygous blastocysts exhibit cell cycle arrest at prometaphase of mitosis and increased apoptosis. | ||
| 017358 | B6;129S4-Tet1tm1.1Jae/J | Under Development - Now Accepting Orders |
| Mice that are heterozygous for the targeted mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. No gene product (mRNA carrying exon 4 or protein) is detected by RT-PCR or Western blot analysis of embryonic stem cells homozygous for the targeted mutation. Some residual full-length transcript lacking exon 4 is detected. No truncated protein is detected by Western blot. mESC from homozygotes have a reduced level of 5-hydroxymethylcytosine (5hmC). Although homozygotes are viable, at birth, 75% of homozygotes have a smaller body size than wildtype controls. Homozygous embryos at E12.5 have fewer tail somite pairs than wildtype controls. Homozygous crosses produce very few pups. | ||
| 013529 | B6;129S7-Dp(10Prmt2-Pdxk)2Yey/J | Under Development - Now Accepting Orders |
| This Dp(10)2Yey/+ mutant strain contains one copy of mouse Chromosome 10 with the targeted sequence duplicated between, and including, the protein arginine N-methyltransferase 2 (Prmt2) gene and the pyridoxal (pyridoxine, vitamin B6) kinase (Pdxk) gene. Hemizygous mice are viable and fertile. This duplicated region on the mouse chromosome is one of three regions orthologous to an extra copy of human Chromosome 21 (Hsa21) which has been implicated in developmental cognitive disabilities like Down Syndrome (DS). Dp(10)1Yey/+ contains a duplication syntenic to the distal part of human 21q22.3, and carries 41 genes orthologous to genes on Hsa21. When mice carrying this duplication are bred to B6;129-Dp(16Lipi-Zfp295)1Yey/J mice (Stock No. 013530) and B6;129-Dp(17Abcg1-Rrp1b)3Yey/J mice (Stock No. 013531) to create a triple duplication ..... For more information please see the full phenotype on the strain data sheet | ||
| 013530 | B6;129S7-Dp(16Lipi-Zfp295)1Yey/J | Under Development - Now Accepting Orders |
| This Dp(16)1Yey/+ mutant strain contains one copy of mouse Chromosome 16 with the targeted sequence between, and including, the lipase, member I (Lipi) gene and the zinc finger protein 295 (Zfp295) gene. Hemizygous mice are fertile. The donating investigator recently observed that 30% of offspring die shortly after birth due to heart defects. This duplicated region on the mouse chromosome is one of three regions orthologous to an extra copy of human Chromosome 21 (Hsa21) which has been implicated in developmental cognitive disabilities associated with Down Syndrome (DS). Dp(16)1Yey/+ contains a duplication orthologous to human 21q11-q22.3 and carries 113 genes orthologous to genes on Hsa21. These mice exhibit heart defects including cleft of the mitral valve, atrial and ventricular defects, and coarcation of the aorta. Some mice also display annular pancreas and malrotation of the intestines. When mice carrying this duplication are bred ..... For more information please see the full phenotype on the strain data sheet | ||
| 013531 | B6;129S7-Dp(17Abcg1-Rrp1b)3Yey/J | Under Development - Now Accepting Orders |
| This Dp(17)3Yey/+ mutant strain contains one copy of mouse Chromosome 17 with the targeted sequence duplicated between, and including, the ATP-binding cassette, sub-family G (WHITE), member 1 (Abcg1) gene and ribosomal RNA processing 1 homolog B (S. cerevisiae) (Rrp1b) gene. Hemizygous mice are viable and fertile. This duplicated region on the mouse chromosome is one of three regions orthologous to an extra copy of human Chromosome 21 (Hsa21) which has been implicated in developmental cognitive disabilities associated with Down Syndrome (DS). Dp(17)1Yey/+ contains a duplication syntenic to the proximal part of human 21q22.3, and carries 19 genes orthologous to genes on Hsa21. When mice carrying this transgene are bred to B6;129-Dp(10Prmt2-Pdxk)2Yey/J mice (Stock No. 013529) and B6;129-Dp(16Lipi-Zfp295)1Yey/J mice (Stock No. 013530 ..... For more information please see the full phenotype on the strain data sheet | ||
| 017533 | B6N.129(Cg)-Sema5atm1.2Alk/J | Under Development - Now Accepting Orders |
| In this knockout strain, exon 6 of the semaphorin 5A (Sema5a) gene is excised (includes coding region), abolishing gene function. Sema5A is a transmembrane protein which acts as a repellant for axonal guidance during retinal neural development. Wildtype P0 and P3 mice express Sema5A in the outer neuroblastic layer, directly adjacent to the inner neuroblastic layer (INBL). At P7, P10, and P14, the expression is only observed in the middle to outer part of inner nuclear layer (INL), and transcripts are not detectable at P21, when retinal development is almost complete. Homozygotes are viable and fertile. When bred to mice lacking Sema5b (Stock No. 017534), SEMA5A/B double KO mice exhibit severe defects in retinal ganglion cells, amacrine cells, cholinergic amacrine cells, calretinin-positive amacrine cells, and calbindin-positive amacrine cells. The defects lead to neurite mistargeting within both the inner plexiform ..... For more information please see the full phenotype on the strain data sheet | ||
| 017351 | BKa.Cg-Ptprcb Bmi1tm1Ilw Thy1a/J | Under Development - Now Accepting Orders |
| The Bmi-1GFP knock-in/knockout allele has EGFP fused in-frame with the endogenous transcriptional start site of the Bmi-1 polycomb ring finger oncogene (Bmi1) locus; both abolishing endogenous gene function and placing EGFP expression under direction of the Bmi1 promoter/enhancer regions. EGFP expression (direct fluorescence) is highest in hematopoietic stem cell (HSC) populations and downregulated along with differentiation; recapitulating the expected expression pattern of endogenous Bmi-1. Specifically, EGFP fluorescence is significantly higher in the HSC-enriched KLS population (c-kit+lin-Sca-1+) compared with other populations.
Mice heterozygous for the Bmi-1GFP knock-in/knockout allele are viable, fertile, and phenotypically indistinguishable from wildtype littermate controls with respect to survival, hematopoietic cellularity, and lineage composition. Heterozygous bone marrow cells sorted via FACS into ..... | ||
| 012873 | C.DDD-plt/NknoJ | Under Development - Now Accepting Orders |
| Homozygous BALB/c-plt mice are viable and fertile, harboring the spontaneous plt (or "paucity of lymph node T cells") deletion of both the Ccl19 and Ccl21a loci on chromosome 4. Lack of expression of these two CCR7 receptor ligands in the secondary lymphoid organs results in abnormal leukocyte migration and impaired immune response. Specifically, homozygous mice have disrupted trafficking/homing of T cells and dendritic cells to lymphoid tissues. No reported abnormalities in B cell distribution/cellularity are reported for homozygous mice. Homozygous mice exhibit mature single-positive thymocyte arrest in the thymic cortex that results in defective formation of the medullary region of the thymus. Thymic export of T cells in these mice is compromised during the neonatal period but not in adulthood. While CCL21 expression is absent in lymphoid organs because of the Ccl21a deletion, CCL21 expression in non-lymphoid organs is observed because the upstre ..... For more information please see the full phenotype on the strain data sheet | ||
| 014646 | C3.B6-Sema3am808Ddg/J | Under Development - Now Accepting Orders |
| Mice homozygous for this ENU-induced mutation (Sema3am808Ddg), are viable and fertile. These mice contain a loss-of-function mutation in exon 3 of the Sema3a (sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A) gene. Sema3a encodes a secreted protein that interacts with neuropilin-2 and plays a critical role in normal neuronal pattern development of the peripheral nervous system. These Sema3aK108N homozygotes exhibit defasciculation and overgrowth of peripheral axonal projections of the spinal nerves and of axons within the ophthalmic branch of the trigeminal ganglia. Sensory and motor projections comprising the ulnar and radial nerves also extend beyond their targets and travel in bundles that are disorganized and defasciculated. These mutant mice may be useful in studying proper patterning connectivity and guidance of neurons of the peripheral nervous system. | ||
| 017720 | C57BL/6-Sh2d3ctm1Ebp/J | Under Development - Now Accepting Orders |
| These mice possess loxP sites on either side of exon 7 of the targeted gene. Exon 7 encodes most of the SH2 domain, and corresponds to exon 8 of human SHEP1. SH2D3C protein forms a complex with CAS (or BCAR1), a scaffolding protein, and regulates cell adhesion and migration.
Mice that are homozygous for this allele are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. When these mutant mice are bred to mice that express Cre recombinase, resulting offspring will have exon 7 deleted in the cre-expressing tissue(s).
When bred to a strain with Cre recombinase expression in B-lymphocytes (see Stock No. 006785 for example), this mutant mouse strain may be useful in studies of marginal zone B-cell maturation, adhesion and migration. When bred to a strain with germline Cre recombinase expression, this mutant mouse strain may be useful in studies of axona ..... | ||
| 017557 | C57BL/6-Tg(BEST1-cre)1Jdun/J | Under Development - Now Accepting Orders |
| These mice express Cre recombinase under the control of the human bestrophin 1 (BEST) promoter. Mosaic Cre recombinase expression (mRNA) is seen in 50-90% of retinal pigment epithelium (RPE) cells, with some expression seen in the testis. When crossed with a strain containing a loxP site-flanked sequence, Cre-mediated recombination results in deletion of the flanked sequence in RPE cells. Homozygotes are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. This strain represents an effective tool for generating RPE specific-targeted mutants that would be useful in studies of human retinopathies.
For example, when bred to a strain expressing a floxed-Dicer1 gene (see Dicer1tm1Bdh Stock No. 006366 for example), this mutant mouse strain may be useful for studying age-related macular degeneration. | ||
| 017602 | C57BL/6-Tg(Tagln-Tfpi)1661Rdsi/J | Under Development - Now Accepting Orders |
| Mice homozygous for the SM22α-mTFPI transgene are viable and fertile, with the mouse SM22α promoter fragment directing expression of a mouse tissue factor pathway inhibitor cDNA sequence encoding the TFPIα isoform (TFPIα is the predominant TFPI protein isoform in humans).
As such, SM22α-mTFPI transgenic mice have vascular smooth muscle cell-directed overexpression of TFPI in a tissue-specific and local manner. Specifically, homozygous SM22α-mTFPI transgenic mice from founder line 1661 have transgene mRNA levels approximately 4-fold higher than endogenous TFPI mRNA in aortic homogenates. Similarly, TFPI activity of carotid artery homogenates from homozygous transgenic mice showed 2- to 3-fold increase compared to wildtype mice. SM22α-mTFPI mice have increased circulating levels of TFPI antigen, but no increase in TFPI activity in plasma, compared to wildtype mice. Transgenic TFPI expression is also observed in smooth muscle-rich tissues such ..... For more information please see the full phenotype on the strain data sheet | ||
| 017485 | FVB-Tg(HTT*)1Xwy/J | Under Development - Now Accepting Orders |
| These BAC SA transgenic mice express a mutant human HTT (huntingtin) gene containing nucleotide substitutions that result in amino acid substitutions of alanine for serine at positions 13 and 16, as well as a loxP-flanked fragment containing 97 mixed CAA-CAG repeats. The amino acid substitutions render the NT17 domain phosphoresistant (SA). Immunoprecipitation analysis confirmed that the mutant HTT protein is not phosphorylated. The mutant protein is expressed at a level higher than levels detected in the BACHD-L transgenic strain (STOCK No. 017487). At 2 months of age, BAC SA transgenic mice exhibit motor deficits, which progress with age. At 12 months of age, the mutant mice display decreased forebrain weight, anxiety and depression-like behavior and progressive protein aggregate formation in cortex and striatum. Mice that are hemizygous for the targeted mutation are viable, fertile and normal in size. The Do ..... For more information please see the full phenotype on the strain data sheet | ||
| 017486 | FVB-Tg(HTT*)BXwy/J | Under Development - Now Accepting Orders |
| These BAC SD transgenic mice, line B, express a mutant human HTT (huntingtin) gene containing nucleotide substitutions that result in amino acid substitutions of aspartic acid for serine at positions 13 and 16, as well as a loxP-flanked fragment containing 97 mixed CAA-CAG repeats. The amino acid substitutions render the NT17 domain phosphomimetic (SD), mimicking serine phosphorylation. The mutant protein is expressed at a level higher than levels detected in the BACHD-L transgenic strain (STOCK No. 017487). No mutant protein aggregates, motor deficits or neurodegeneration are observed in transgenic mice up to 12 months of age. Mice that are homozygous for the targeted mutation are viable, fertile and normal in size.
When bred to Htt deficient mice, the transgene rescues the null embryonic lethal phenotype. | ||
| 017487 | FVB-Tg(HTT*97Q)LXwy/J | Under Development - Now Accepting Orders |
| These BACHD-L transgenic mice express a mutant human HTT gene containing 97 mixed CAA-CAG repeats. Mice homozygous for the transgenic insert are viable, fertile, and normal in size. Mutant HTT protein is detected in cortex, striatum, and cerebellum by Western blot analysis. qPCR results indicated that there are tandem integrations of approximately 5 copies of the transgene. The 97 CAA-CAG repeat length is stable in maternal and paternal germline transmission, as well as in brain tissue from 12 month old transgenic mice. Onset of progressive motor deficits is 2 months of age. Transgenic mice weigh 8-14% more than wildtype controls. In transgenic mice 12 months of age, a few mutant HTT protein aggregates are observed in the cortical neuropil, with tiny aggregates in the striatum, which is similar to the pattern seen in adult onset Huntington's Disease. | ||
| 017609 | FVB/N-Rr16Tn(sb-Tyr)1HCebOve/J | Under Development - Now Accepting Orders |
| These BART6-TP1H mice harbor a transposition-induced mutation near the bone morphogenetic protein 4 locus (Bmp4) on mouse chromosome 14.
The transposed integration site is reported to be at 46,829,514 [NCB137/mm9] on chromosome 14: this is ~150 kb away from Bmp4. The transposed integration site is tightly linked with the original integration site.
The donating investigator reports they have been unable to identify a transposon-induced deletion near Bmp4 and the mutation is not found within the BMP4 coding sequences. The mutation results in altered BMP4 expression (presumably via a transposition-induced inversion that leads to loss-of-function of an enhancer that is required for expression of BMP4 in the optic vesicle).
Heterozygous and homozygous mice from this line exhibit light grey/medium grey coat color. All homozygous mice exhibit congenital absence of both eyes (anophthalmia) due to defects in lens induction. Homozygous mice are fertile, although ~ ..... For more information please see the full phenotype on the strain data sheet | ||
| 017598 | FVB/N-Sdccag8Tn(sb-Tyr)2161B.CA1C2Ove/J | Under Development - Now Accepting Orders |
| These OVE2161B-CA1C-2 mice harbor a mutation created by random insertion of the pT2-BART3 transposon transgene. Using inverse PCR analysis, the integration site was identified between exons 12-13 of the serologically defined colon cancer antigen 8 gene (Sdccag8) on chromosome 1. The transgene is linked to the (+) strand of DNA at position 178,833,225 bp [NCB137/mm9; L:SV40:178,833,225(+)]. The donating investigator reports that homozygous mice have complete absence of Sdccag8 transcript. All homozygous mice exhibit cleft palate, with open palate observed by embryonic day (E)15. Homozygous mice die shortly after birth with complications from cleft palate (cannot suckle). In addition, the donating investigator reports that homozygous mice exhibit preaxial polydactyly and polycystic kidney disease. Hemizygous and homozygous mice of line OVE2161B-CA1C-2 exhibit very light tan coat color and red eyes. | ||
| 016870 | FVB/NJ-Ap2b1Tg(Tyr)427Ove/EtevJ | Under Development - Now Accepting Orders |
| These OVE427 mice harbor a mutation created by random insertion of two head-to-tail copies of the tyrosinase minigene (TYBS) transgene into the Ap2b1 (adaptor protein complex 2 β1 subunit) gene on chromosome 11. This results in a knockout allele; no β2-adaptin mRNA or protein is expressed from the mutant allele. Homozygous OVE427 mice exhibit complete clefting of the secondary palate (autosomal recessive nonsyndromic cleft palate) and die shortly after birth. Coronal cross-sections of the secondary palate of embryonic day (E)17 and E18 homozygous embryos display evidence of palatal shelf elevation and the apparent failure of the shelves to fuse. Ap2β1-deficiency also leads to reduced levels of another adaptor protein-2 (AP-2) complex protein, α-adaptin (Ap2a1). No craniofacial dysmorphology or any anomalies involving the limbs or developing skeleton are reported for OVE427 homozygotes. Other than cleft palate, additional histological examinati ..... For more information please see the full phenotype on the strain data sheet | ||
| 017435 | FVB;B6-SlmapTn(sb-rtTA)2426B.SB4Ove/J | Under Development - Now Accepting Orders |
| These OVE2426B-SB4 (OVE#2426B-SB4) mice harbor a mutation created by random insertion of the SB-sa-IRES-rtTA-pA-SB-Tyro-WPRE-FUGW lentiposon transgene (LV2223), and the transposon was subsequently mobilized via exposure to sleeping beauty transposase (SB10) to generate the mutation. Using inverse PCR analysis, the transposon integration site was identified in intron 20 of the sarcolemma associated protein gene (Slmap) on chromosome 14. The right IR/DR is linked to the (-) strand of DNA at position 27,244,452 bp [NCB137/mm9; R3-27,244,452(-)]. The rtTA is inserted in the sense orientation relative to the disrupted mouse gene. The donating investigator reports the phenotype of homozygous mice as: cleft palate. | ||
| 017693 | STOCK Gsk3btm1Grc/J | Under Development - Now Accepting Orders |
| 017306 | STOCK Neurog1tm1And/J | Under Development - Now Accepting Orders |
| In this strain, a green fluorescent protein (GFP) sequence fused to a neomycin resistance (neo) cassette replaces the coding exon of the neurogenin 1 (Neurog1) gene, abolishing gene function. Heterozygotes are viable and fertile. NEUROG1 is a neural-specific basic helix-loop-helix (bHLH) transcription factor involved in neurogenesis. NEUROG1 is also required for the formation of TrkA-expressing sensory neurons in the dorsal root ganglia that are involved in sensing pain, itch and temperatures. NEUROG1 is involved in neurogenesis and neuronal differentiation in the spinal cord and specific regions in the brain. In this strain, homozygotes lacking NEUROG1 fail to generate the proximal subset of cranial sensory neurons, such as neurons in the trigeminal, vestibulo-cochlear, superior, and jugular ganglia. These homozygous pups die within a day of birth due to inability to feed. GFP does not produce a fluorescent signal. These mice may be useful for studying neurogenesis in man ..... For more information please see the full phenotype on the strain data sheet | ||
| 017981 | STOCK Tg(Hoxb6-cre)Mku/J | Under Development - Now Accepting Orders |
| These mice express Cre recombinase under the control of the mouse homeobox B6 (Hoxb6) lateral plate mesoderm (LPM) enhancer region. HOXB6 is a transcription factor that regulates anterior-posterior axis positioning during development. Hoxb6-Cre is expressed throughout the lateral plate mesoderm at E8.5, in mesoderm of the hindlimb bud at E9.5, and in the entire hindlimb by E11.5. In the forelimb, Cre activity is detected at the posterior end during limb initiation and then extends anterior until nearly the entire limb bud is positive by E11.5. Homozygotes are viable and fertile. When crossed with a strain containing a loxP site-flanked sequence, Cre-mediated recombination results in deletion of the flanked sequence in Cre-expressing tissues of the offspring.
For example, when bred to a strain expressing a floxed-fibroblast growth factor receptor 1 (Fgfr1) gene, the resulting mice exhibit malformed hindlimbs and abnormal posterior portions of the fo ..... | ||
| 016146 | STOCK Tg(SFTPC-rtTA)2Jaw/J | Under Development - Now Accepting Orders |
| These transgenic mice express the reverse tetracycline-controlled transactivator (rtTA) protein under the control of the human SFTPC, surfactant, pulmonary-associated protein C, promoter.
In situ hybridization detects rtTA mRNA in lung peripheral epithelial cells from adult mice and 15 postconception day-aged embryos from doxycycline treated dams. Induction of transgene expression is detected as early as postconception day 12.5 when the pregnant female is treated with doxycycline. When mated to a second transgenic strain carrying a gene under the regulatory control of a tetracycline-responsive promoter element (tetO), expression of the gene may be regulated with the tetracycline analog, doxycycline (dox); in the presence of dox, transcription of the target gene is induced in cells where rtTA is expressed. Mice that are homozygous for this transgene are viable, fertile, normal in size, and do not display any gross physical or behavioral abnormalities.
This strain provide ..... For more information please see the full phenotype on the strain data sheet | ||
| 016145 | STOCK Tg(Scgb1a1-rtTA)2Jaw/J | Under Development - Now Accepting Orders |
| These transgenic mice express the reverse tetracycline-controlled transactivator (rtTA) protein under the control of the rat Scgb1a1, secretoglobin, family 1A, member 1 (uteroglobin), gene promoter. In situ hybridization detects rtTA mRNA in bronchial and type II epithelial cells of lung tissue from adult transgenic mice treated with doxycycline for seven days. Induction of transgene expression is detected as early as postconception day 14 when the pregnant female is treated with doxycycline. When mated to a second transgenic strain carrying a gene under the regulatory control of a tetracycline-responsive promoter element (tetO), expression of the gene can be regulated by the tetracycline analog, doxycycline (dox); in the presence of dox, transcription of the target gene is induced in cells where rtTA is expressed. Mice hemizygous for the CCSP-rtTA transgene are viable, fertile, normal in size, and do not display any gross physical or behavioral abnormalities.
This founde ..... | ||
| 004807 | B6;129-Psen1tm1Mpm Tg(APPSwe,tauP301L)1Lfa/Mmjax | Transferred |
| 004337 | 129(Cg)-Foxg1tm1(cre)Skm/J | Cryopreserved - Ready for recovery |
| This strain expresses Cre recombinase from the endogenous Foxg1 locus. Forkhead box G1 is required for telencephalon development and is expressed specifically in the telencephalon and discrete head structures. When crossed with a strain containing loxP site flanked sequence of interest, Cre-mediated recombination results in tissue-specific deletion of the target. Recombination occurs in the telencephalon, anterior optic vesicle (developing lens and retina), otic vesicle, facial and head ectoderm, olfactory epithelium, mid-hindbrain junction and pharyngeal pouches. Mice that are homozygous for the targeted mutation die perinatally. Heterozygous mutant mice are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. This mutant mouse strain represents a model that may be useful in studies of telencephalic development. | ||
| 005987 | 129-Achetm1Loc/J | Cryopreserved - Ready for recovery |
| Homozygous mice have 25% fetal mortality. Those born have retarded growth, fine motor tremors, unusual posture and gait, no righting reflex, malformed pinna, and sealed eyelids. These mice die emaciated and dehydrated by 3 weeks of age. Enriched diets for the nursing female and pups allow homozygous mice to survive to adulthood. Males exhibit no breeding behavior. Homozygous females can become pregnant when bred to heterozygous or wildtype males, but both female and pups do not survive. Acetylcholinesterase (AChE) activity is completely abrogated in serum and tissue from homozygous mice, and approximately half in heterozygotes. Many symptoms of organophosphate poisoning are observed in homozygous mice, including pulsating paws, body tremor, abnormal gait, pinpoint pupils, muscle weakness, and early death following seizure. When restrained, a white mucus forms on the eyes and seizures may occur. Mice also have several developmental delays, low body mass, decreased pain response, sexual ..... For more information please see the full phenotype on the strain data sheet | ||
| 002484 | 129-Alpltm1Sor/J | Cryopreserved - Ready for recovery |
| Mice heterozygous for the Alpltm1Sor targeted mutation appear normal and viable. Homozygous mutant mice are perinatal lethals but can be rescued by pyridoxal treatment. Surviving homozygotes develop epilepsy due to reduced GABA levels in the brain. Bone formation does not appear to be grossly affected in untreated animals, but treated animals exhibit cranial dysmorphology. The targeting vector contained both a b-galalactosidase and a neomycin genes (beta-geo), both of which are under the control of the Alpl promoter and are thus expressed in a tissue specific manner. Specifically, expression occurs in developing bones and in primordial germ cells (PGC), and the beta-galactosidase thus serves as a marker for these tissues. The marker for PGC's is particularly significant because the current marker (alkaline phosphatase staining) is only useful to study early germ cell migration. | ||
| 002908 | 129-Col4a3tm1Dec/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the Col4a3tm1Dec targeted mutation develop glomerulonephritis and die at about 8.5 weeks of age. Survival time of homozygous mutant mice is extended to about 14 weeks of age in mice maintained on a mixed genetic background. | ||
| 002909 | 129-Cyp1a2tm1Gonz/J | Cryopreserved - Ready for recovery |
| Most homozygous 129/Sv-Cyp1a2tm1Gonz mice die perinatally with impaired respiratory function due to lung immaturity. Amniotic fluid is not properly evacuated from the lungs at birth, and the alveoli do not fill with air. Lungs of homozygous mutant mice show lower levels of surfactant-associated protein (SAP) at birth than do wild type littermates. The penetrance of this phenotype is incomplete, as approximately 3% of homozygous mutants do survive to adulthood. Surviving animals, although they lack CYP1A2 protein, appear phenotypically normal and can reproduce. | ||
| 002516 | 129-Edn3tm1Ywa/J | Cryopreserved - Ready for recovery |
| This mutation is alleleic with the lethal spotting spontaneous mutation. Homozygous mice are viable at birth, but most die within about a month. They show a disruption in neural crest lineage development. They die from peritonitis subsequent to aganglionic megacolon. They may serve as a model for human Hirschsprung's disease. | ||
| 003231 | 129-Exoc4tm1Sor/J | Cryopreserved - Ready for recovery |
| 004290 | 129-Ihhtm1Amc/J | Cryopreserved - Ready for recovery |
| Mice that are heterozygous for the targeted allele are viable and fertile. Mice homozygous for this mutation have a lethal phenotype. Half of homozygous null mice have an embryonic lethal phenotype, dying between 10.5 to 12.5 days post coitum. The cause of embryonic death may be due to circulatory abnormalities. Embryonic death also occurred in late gestation, with the remaining homozygous mutants dying at birth, due to respiratory failure. At 12.5 dpc, initial cartilaginous primordia of mutant embryos forelimbs are not abnormal, but by 13.5 dpc, mutant embryos display severe foreshortening of the forelimbs. At birth, the length of long bones of mutant animals are only one third the length of long bones of wildtype animals. Mutants have reduced chondrocyte proliferation, abnormal chondrocyte maturation and absence of mature osteoblasts in endochondral bones. Recent studies have linked mutations of Ihh to brachydactyly type A-1 St-Jacques. This mutant mouse strain represents a mo ..... For more information please see the full phenotype on the strain data sheet | ||
| 004166 | 129-Itgb5tm1Des/J | Cryopreserved - Ready for recovery |
| Mice that are homozygous for the Itgb5tm1Des targeted mutation are viable, fertile, normal in size, and do not display any gross physical or behavioral abnormalities. No Itgb5 gene product (mRNA or protein) is detected. Homozygotes display defects in VEGF-mediated vascular permeability. Cultured keratinocytes derived from homozygous mutant animals display impaired adhesion and migration on vitronectin-coated surfaces. | ||
| 002674 | 129-Krastm1Tyj/J | Cryopreserved - Ready for recovery |
| Homozygous mice die at about embryonic day 12-13. They have a hypocellular fetal liver which also displays extensive cell death. They also appear to have a defect in both the hematopoietic cells and their microenvironment. | ||
| 009091 | 129-Skitm1Cco/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the targeted mutation die before or shortly after birth due to developmental defects. More than 80% of homozygotes on the 129 background exhibit exencephaly (severe neural tube closure defects) between embryonic day 15.5 (E15.5) and embryonic day 18.5 (E18.5). None exhibit facial clefting. The Donating Investigator reports that homozygotes display flattened or shorter snouts, iris malformation and polydactyly. The penetrance of the phenotype is highly background dependent. Heterozygotes are viable and fertile with timely cranial neural tube closure and, the Donating Investigator reports, no facial clefting. This mutant strain may be useful in studies of facial cleft formation, 1p36 deletion syndrome, oncogene function, apoptosis, and neural tube and skeletal muscle defects. | ||
| 005291 | 129-Tulp3tm1Jng/Pjn | Cryopreserved - Ready for recovery |
| 006239 | 129-Wnt11tm1Amc/J | Cryopreserved - Ready for recovery |
| Mice heterozygous for this targeted mutation are viable and fertile with normal kidney size and histology. Homozygotes exhibit some embryonic lethality and will die by 2 days post partem. While the cause of death is unclear, these neonates have kidney hypoplasia and reduction of glomeruli. RT-PCR analysis of kidney RNA shows the expected truncated transcript. Homozygotes exhibit ureteric branching morphogenesis defects between embryonic day 11.5-12.5 (T-stage) associated with a reduction in mesenchymal Gdnf expression. These Wnt11 mutant mice may be useful in studies of kidney development, including ureteric bud branching morphogenesis, and Wnt superfamily embryogenesis. | ||
| 002866 | 129-Wnt4tm1Amc/J | Cryopreserved - Ready for recovery |
| 003201 | 129/Sv-Csktm1Sor/J | Cryopreserved - Ready for recovery |
| Mice homozygous for disruption of the csk gene die in utero at 9 - 10 days of gestation, exhibiting defects in neurulation. Mutant embryos are anatomically indistinguishable from normal or heterozygous littermates at E8.5, but are identifiable at E9.5 by their smaller size, failure to 'turn' (reverse orientation of germ layers) and failure to close their cephalic neural folds. The allantois of these mutant embryos is also abnormal and does not connect with the chorion, preventing formation of the umbilical cord and placenta. The kinase Csk plays a role in negative regulation of the Src family tyrosine kinases by phosphorylating a key carboxy-terminal tyrosine residue. Expression of csk in normal embryos is detectable at low levels beginning at E8.5, and is at its highest level of expression at E9.5. | ||
| 003518 | 129/Sv-L1camtm1Sor/J | Cryopreserved - Ready for recovery |
| The L1 gene is localized to the X chromosome. As a result, hemizygous males are affected and the mutation has to be propagated through females. Male mice hemizygous for the L1camtm1Sor targeted mutation have defects in the guidance of axons of the corticospinal tract. A substantial proportion of axons do not take their normal crossed course to the dorsal column at the pyramidal decussation. There is also a varying, but reduced number of corticospinal axons in the dorsal columns of the spinal cord. In an attempt to offer alleles on well-characterized or multiple genetic backgrounds, alleles are frequently moved to a genetic background different from that on which an allele was first characterized. It should be noted that the phenotype could vary from that originally described. We will modify the strain description if necessary as published results become available. | ||
| 000212 | 129P4.Cg-Axin1Fu/J | Cryopreserved - Ready for recovery |
| The fused mutation is dominant and generally more severe in homozygotes, but has highly varying penetrance in both the heterozygote and homozygote, to the extent that some homozygotes do not have an abnormal phenotype. Phenotypic traits of mice carrying the Axin1Fu allele include shortened, bifurcated, or absent tails, kinked tails with fused vertebrae, other asymmetrical fusions of vertebrae, axial duplications, and ribs fused at the proximal ends. Imperforate anus, anemia at birth, waltzing movement, deafness, and missing or abnormal kidneys have also been reported. Both heterozygotes and homozygotes are generally fertile although female carriers transmit with a lower penetrance than males do. (Reed, 1936; Dunn and Gluecksohn-Waelsch, 1954; Theiler and Gluecksohn-Waelsch, 1956.) | ||
| 008001 | 129S-Dvl2tm1Awb/J | Cryopreserved - Ready for recovery |
| Half of homozygotes exhibit a perinatal lethal phenotype. Surviving homozygotes are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. Some newborn homozygotes fail to survive and exhibit breathing difficulties, cyanosis and reduced mobility. No gene product (protein) is detected by Western blot analysis of brain lystates. Some nonviable homozygotes display cardiac abnormalities. Most homozygotes (90%) have mild abnormalities of the ribs and vertebrae. 2 to 3% of the homozygous embryos display thoracic spina bifida and exencephaly. This mutant mouse strain may be useful in studies of bone and cardiac development, neural tube closure and spina bifida. | ||
| 009083 | 129S-Dvl3tm1Awb/J | Cryopreserved - Ready for recovery |
| Mice that are heterozygous for the targeted mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. Homozygous null mice have a perinatal lethal phenotype. Neonates have breathing difficulties and are often cyanotic. Homozygous embryos exhibit cardiac conotruncal abnormalities such as persistent truncus arteriosis (PTA) and double outlet right ventricle (DORV), and cochlear defects (disoriented stereociliary bundles). This mutant mouse strain may be useful in studies of cardiac development, neural tube formation and development of the inner ear. | ||
| 008864 | 129S-Ece1tm1Reh/J | Cryopreserved - Ready for recovery |
| Homozygous endothelin converting enzyme 1 targeted mutant mice die before embryonic day 13.5 (E13.5) on a 129 genetic background. Pre-morbid homozygous embryos exhibit peripheral vascular dilation and pericardial effusion, consistent with cardiac failure. There is marked congestion and dilation of the atria and peripheral vessles, as well as generalized edema. The embryos also exhibit severe craniofacial defects. Western blot and enzyme immunoassay confirm that expression of the gene is eliminated in homozygous embryos. These mice closely resemble human DiGeorge syndrome patients who suffer multiple craniofacial and cardiovascular defects. | ||
| 008865 | 129S-Ednratm1Ywa/J | Cryopreserved - Ready for recovery |
| Homozygous endothelin receptor type A targeted mutant embryos are born with numerous defects in craniofacial structures. The mandible appears to have undergone a homeotic transformation into a maxilla. Other maxillary structures are duplicated in the lower jaw, including the palatine, jugal and pterygoid bones. The malleus and incus of the middle ear are dysmorphic and Meckel's cartilage is absent. The hyoid bone of the throat is moved rostrally and fused with the pterygoid bones, resulting in collapse of the trachea and subsequent asphyxia. Defects also exist in the heart, including double outlet right ventricle, transposition of the great arteries, interruption of the aorta and persistent truncus arteriosus. While all mutant mice have cardiac defects, the specific type of defect differs between embryos. Expression of the targeted gene (total embryo RNA) is still observed in homozygous mutant embryos, though there is a shift in size, suggestive of a partial mRNA. Ligand binding ass ..... For more information please see the full phenotype on the strain data sheet | ||
| 008667 | 129S-Hba-xtm1Led/J | Cryopreserved - Ready for recovery |
| Mice that are homozygous for this targeted mutation have an embryonic lethal phenotype. No gene product (mRNA) is detected by Northern blot analysis of homozygous embryos. α-globin mRNA expression is also reduced in homozygous embryos. Homozygous embryos (12 day pc) are anemic, pale, small in size, with peripheral blood anisocytosis, poikilocytosis, and polychromasia and reduced hemoglobin concentration and mean corpuscular volume. Heterozygotes are viable, fertile, and normal in size. Heterozygotes exhibit increased platelet number, and an intermediary phenotype of reduced hemoglobin concentration and mean corpuscular volume. This mutant mouse strain may be useful in studies of erythropoiesis, α-Thalassemia and hemoglobin defects. | ||
| 008700 | 129S-Itgb3tm1Hyn/J | Cryopreserved - Ready for recovery |
| Mice that are homozygous for this targeted allele are viable and fertile. No gene product (protein) is detected on the surface of platelets. Significant (50%) embryonic lethality attributed to fetal hemorrhaging and placental defects is observed. Until three weeks of age, additional pup loss may occur due to hemorrhaging in the skin and gastrointestinal tract. Gastrointestinal tract bleeding is commonly observed in adults and is frequently associated with an enlarged spleen. Erythrocyte number, hemoglobin, hematocrits and thrombus formation are all reduced while bleeding time is prolonged. Varying degrees of liver and kidney necrosis are also observed. Although increased numbers of osteoclasts are observed (3.5 fold over that seen in heterozygotes) they appear to be dysfunctional, having a reduced ability to resorb whale dentin in vitro. Mice are osteosclerotic and hypocalcemic. Enhanced tumor angiogenesis and vascular endothelial growth factor-induced blood vessel growth are observed. ..... For more information please see the full phenotype on the strain data sheet | ||
| 007205 | 129S-Myo1eGt(ROSA)74Sor/J | Cryopreserved - Ready for recovery |
| Homozygous embryos E11.5 to E18.5 exhibit hemorrhages and microaneurisms. Vascular defects persist into adulthood. At 6 weeks of age, mice are anemic (low hemoglobin concentration, red blood cell count, hematocrit). These mice also exhibit polychromasia (abnormally high number of immature blood cells). Homozygotes occur at lower than Mendelian ratio (15%). Although homozygotes are fertile, pregnancy is occasionally lethal for homozygous females. Heterozygotes are viable and fertile. No gene product is detected in homozygous embryos aged ED9.5-12.5 or in adult gonad. These Myo1e-mutant mice may be useful in studying vascular development, hematopoiesis and cellular signaling during development and in adult mice; specifically receptor tyrosine kinases (RTK; such as Ras, MAP kinase, PI3K and those in the platelet-derived growth factor (PDGF) family) and immediate early genes (IEG) induced shortly after RTK activation. | ||
| 003383 | 129S-Nogtm1Amc/J | Cryopreserved - Ready for recovery |
| Homozygous mice are born but die shortly after birth, exhibiting multiple defects, including an open neural tube, skeletal abnormalities, shortened body axis, and a small vestigial tail. Analysis of early gene expression has shown that the loss of Nog expression in the floorplate, notochord, and roofplate results in a progressive failure of ventral development in the CNS and somites. Nog is also expressed in condensing cartilage in the limb and in the sclerotome of somites so its loss results in defects in cartilage patterning and skeletal morphogenesis. Heterozygous embryos show lacZ reporter expression in pattern consistent with the endogenous gene. | ||
| 007846 | 129S-Pdgfrbtm1Sor/J | Cryopreserved - Ready for recovery |
| One third of homozygous embryos, aged E16 to E18.5, exhibit purpura and edema with some embryos in this group dying at this stage. Homozygous embryos delivered by Caesarean section at E18.5 die within minutes. Homozygotes exhibit anemia, elevated numbers of nucleated erythrocytes, polychromasia, irregularly shaped mature erythrocytes (anisocytosis), and hemorrhaging. Glomerular capillary tufts are absent and the capsule space is filled with blood cells. No gene product (protein) is detected by Western blot analysis of total protein. A truncated transcript presumed to be due to exon skipping is detected by Northern blot analysis. This mutant mouse strain may be useful in studies of hematopoiesis, kidney development and and cellular signaling during development. | ||
| 008079 | 129S-Ppargtm2Yba/J | Cryopreserved - Ready for recovery |
| These mice express tTA (tetracycline regulated transactivator) and a tetO-driven Flag-tagged Pparg from the endogenous Pparg locus. A fusion transcript (including the 5' portion of Pparg, IRES and tTA (AF1-IRES-tTA)), a Flag-Pparg transcript and a wildtype transcript are detected by Northem blot analysis of white adipose tissue from heterozygotes. The fusion transcript of AF1-IRES-tTA is also detected in brown adipose tissue. Expression of tTA is detected in adipose tissue by Western blot analysis. No Flag-PPARG1 protein was detected in adipose tissue. Weak expression of tTA and the Flag-Pparg transcript is observed in placenta and liver. Endogenous PPARG2 protein is reduced in adipose tissues of heterozygotes. Heterozygotes exhibit "buffalo humps" (swollen interscapular fat pads swollen by hypertrophy and unilocular lipid deposition in mutant brown adipocytes), absence of subcutaneous adipocytes, reduced gonadal white adipose tissue, irregularly residual a ..... For more information please see the full phenotype on the strain data sheet | ||
| 002082 | 129S-Rb1tm1Tyj/J | Cryopreserved - Ready for recovery |
| Mice homozygous for this targeted mutation die in utero, apparently from a failure to produce erythrocytes in the liver, demonstrating that the endogenous gene is essential for normal development. Heterozygous mice, which are analogous to human carrier individuals, do not develop retinal tumors, but do develop pituitary tumors by 8 months of age. | ||
| 007005 | 129S-Scg5tm1Led/J | Cryopreserved - Ready for recovery |
| The colony at The Jackson Laboratory Repository is on a mixed 129S genetic background and may not recapitulate the phenotype originally described.
The following text reflects the phenotype reported by the donating investigator (Dr. Iris Lindberg) on a "129Sv" genetic background (probably "Taconic Sv129" (129S6/SvEvJ)). | ||
| 007209 | 129S-Schip1Gt(ROSA)77Sor/J | Cryopreserved - Ready for recovery |
| Homozygotes occur at lower than Mendelian ratio (19%), and 20% die by age 1 week. Heterozygotes viable and fertile. No gene product is detected in homozygous embryos aged ED9.5-12.5 or in adult gonad. Homozygotes exhibit abnormalities in neural crest-derived and thoracic skeleton development, and palate bone fusion. These Schip1-mutant mice may be useful in studying cellular signaling in development and adult mice; specifically receptor tyrosine kinases (RTK; such as Ras, MAP kinase, PI3K and those in the platelet-derived growth factor (PDGF) family) and immediate early genes (IEG) induced shortly after RTK activation. | ||
| 008238 | 129S-Seletm1Dmil/J | Cryopreserved - Ready for recovery |
| Mice homozygous for this E-selectin mutant allele (E-/-) are viable and fertile with normal circulating leukocyte and platelet profiles. While several transcripts are generated from the mutant locus (due to transcription from the endogenous promoter and/or bidirectional transcription initiated from the pgk promoter in the neo-resistance cassette), these frame-shifted transcripts are non-functional with several predicted stop codons. In contrast to wildtype mice, no protein product is detected in several tissues isolated from LPS-injected homozygous mice. Homozygous mice exhibit abnormal responses to inflammatory stimuli. E-selectin deficiency results in endostatin unresponsiveness (as shown in corneal angiogenesis (mixed B6;129 genetic background) and aortic explant (C57BL/6 congenic background) experiments). These E-selectin mutant mice may be useful in studying inflammation, leukocyte rolling, leukocyte-endothelial adhesion, angiogenesis, and cancer.
Of note, E-sel ..... | ||
| 007199 | 129S-Sgpl1Gt(ROSA)78Sor/J | Cryopreserved - Ready for recovery |
| Mice homozygous for this mutant allele have reduced size and weight gains after birth and do not survive past 8 weeks of age. Homozygotes occur at a lower than Mendelian ratio (19%) from heterozygote X heterozygote crosses. No gene product is detected in homozygous embryos aged ED9.5-12.5 or in adult gonad. Beta-galactosidase staining pattern mimics the endogenous gene expression pattern in adult intestinal epithelial cells. Homozygous embryos E11.5 to E18.5 exhibit hemorrhages and microaneurisms. Vascular defects persist into adulthood. At 6 weeks of age, mutant mice are anemic (low hemoglobin concentration, reduced red blood cell count, low hematocrit). Mutants exhibit polychromasia (abnormally high number of immature blood cells), kidney defects (blood urea nitrogen level abnormally high, kidney size smaller than wildtype, swollen blood filled glomeruli, reduced number of vascular smooth muscle cells) and abnormalities in palate bone fusion. Homozygotes are infertile. Heterozygote ..... For more information please see the full phenotype on the strain data sheet | ||
| 011120 | 129S-Wwtr1tm1Benj/J | Cryopreserved - Ready for recovery |
| Mice that are homozygous for the targeted mutation are viable, fertile, small in size and less active than wildtype controls. Only 10-25% of the expected homozygotes are born. The Donating Investigator reports that breeding homozygous females successfully is uncommon and homozygotes usually succumb before breeding age. No gene product (protein) is detected by Western blot analysis. Homozygotes develop severe polycystic renal disease, with an onset as early as a few weeks of age, and emphysema, with swollen alveoli and breakdown of alveolar walls. Kidney size increases with age. Intestinal and pulmonary inflammation is observed in some homozygotes. Levels of protein polycystin 2 (PC2) is increased in kidney epithelial cells of homozygotes. Histological analysis reveals adipocytes are smaller than wildtype control. | ||
| 008715 | 129S-Ywhaetm1Awb/J | Cryopreserved - Ready for recovery |
| Mice that are heterozygous for the targeted mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. Most homozygotes die at birth, less than 1% of homozygotes survive to adulthood. Survivors remain smaller in size than wildtype controls. No gene product (protein) is detected by immunoblot analysis of brain tissue from homozygotes. Homozygotes exhibit hippocampal defects with thinning of the cortex, hippocampal pyramidal cell layer disorganization and neuronal migration abnormalities. Heterozygotes exhibit less severe hippocampal defects. Mutants have increased apoptosis in the brain. This mutant mouse strain may be useful in studies of Miller-Dieker Lissencephaly Syndrome and neuronal migration during brain development. | ||
| 010751 | 129S.129-Bbs2tm1Vcs/J | Cryopreserved - Ready for recovery |
| Homozygous targeted mutant animals develop obesity that increases with age (cause unknown). They have phenotypes associated with selective cilia dysfunction, including retinopathy, renal cysts, and a deficit in olfaction. Retinal degeneration is characterized by a mislocalization of rhodopsin followed by photoreceptor apoptosis. Male sperm do not develop flagella, causing infertility. Heterozygous crosses produce fewer homozygotes than predicted by Mendelian ratios. Mice also exhibit a defect in social function. | ||
| 010752 | 129S.129-Bbs4tm1Vcs/J | Cryopreserved - Ready for recovery |
| These targeted mutation mice have phenotypes associated with a selective lack of cilia formation or function. Homozygotes weigh less than their littermates at 3 weeks of age, but for unknown reasons become obese over time. Retinal degeneration begins at birth and continues until the entire photoreceptor cell layer is ablated at about 7 months of age. Sperm never develop flagella, causing male infertility. Northern blot analysis confirms that expression of the targeted gene is eliminated in eyes, brain, kidney, ovary, liver, spleen, heart, lungs, and muscle. | ||
| 012668 | 129S.129-Lrp5tm1Grw/J | Cryopreserved - Ready for recovery |
| Homozygous Lrp5 (low density lipoprotein receptor-related protein 5) targeted mutation mice show significantly reduced bone mineral density (BMD) because of a deficiency in osteoblast number and function. Expression of the targeted gene is not detectable in Western blots of liver, kidney and bone. Although the targeting construct was intended to generate a lacZ fusion protein, no such transcripts are detected. Homozygotes are viable, fertile, and are comparable to wildtype littermates in size/weight. This strain may be useful in studies of bone mass and act as a model for Osteoporosis-Pseudoglioma syndrome (OPPG). | ||
| 008185 | 129S/Sv-Krastm3Tyj/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the Kras LA2 allele are embryonic lethal. Heterozygotes have a reduced lifespan compared with wildtype controls, with a mean survival time of 200 days. All animals develop an extensive tumor burden. Most frequently, tumors are observed in the lung, where 100% of animals develop multifocal tumors first detectable as small pleural nodules at one week of age. Tumor multiplicty and size increase with age, ultimately resulting in respiratory distress and death. In addition to lung cancer, the animals are prone to both thymic lymphoma (30%) and skin papillomas (40%). The papillomas typically arise in areas subject to abrasion (ears and snout). These pedunculated papillomas demonstrate limited, if any progression to carcinomas during the lifespan of these animals. Carcinomas of the pancreas and colon are surprisingly not observed in these mice. However, all of the mutant mice examined had multiple aberrant crypt foci (ACF) of the colon which are absent in wild-type ..... For more information please see the full phenotype on the strain data sheet | ||
| 008180 | 129S/Sv-Krastm4Tyj/J | Cryopreserved - Ready for recovery |
| This strain carries a point mutation (G12D) whose expression is blocked by the presence of a loxP-flanked stop codon. Homozygotes die in utero. Cre-mediated recombination can excise the stop codon and permit the oncogenic protein to be expressed. Intranasal infection with an adenovirus encoding Cre results in a very high frequency of lung tumors and permits controlled timing of tumor initiation and tumor multiplicity. This strain may be useful in studies of cancer and development.
When bred to a strain expressing Cre recombinase under the control of a tetracycline-responsive promoter element and a strain expressing a tetracycline-controlled activator protein in lung epithelial cells (see Stock No. 006234 and 006235 respectively), this mutant mouse strain may be useful in studies of lung development. When bred to a strain expressing Cre recombinase in th ..... | ||
| 009085 | 129S/Sv-Rettm1Cos/J | Cryopreserved - Ready for recovery |
| The Ret- allele (also called ret-k-, ret-k minus, or c-ret-) disrupts the region of the ret proto-oncogene (Ret; also called ret-k or c-ret) locus harboring the invariant lysine codon required for Ret kinase activity. Homozygous mice die around 16-24 hours after birth, exhibiting abnormalities in kidney/urinary (renal agenesis/hypodysplasia) and peripheral nervous system development (including sympathetic, parasympathetic, and enteric ganglia), as well as abnormal enteric neural crest cell migration. Because homozygous mice lack enteric ganglia from the hindgut, these mice are also a model of Hirschsprung's Disease. | ||
| 010917 | 129S1.129P2(B6)-Szt2Gt(XH662)Byg/FrkJ | Cryopreserved - Ready for recovery |
| Heterozygotes have a slight increase in electroconvulsion over wild-type controls and 90% of homozygotes on this 129S1 background die before birth. In electroconvulsion tests some homozygotes were found to bypass the minimal clonic seizure endpoint and proceed directly to tonic hindlimb extension. On the C57BL/6J background (stock #010916) no homozygotes were found to survive to birth. In addition to the increased seizure phenotype, homozygotes on this 129S1 background have a slightly diluted coat color. | ||
| 000090 | 129S1/Sv-Oca2+ Tyr+ KitlSl-J/J | Cryopreserved - Ready for recovery |
| The multiple steel mutations (KitlSl) behave in a semidominant fashion and cause deficiencies in pigment cells, germ cells, and blood cells paralleling those caused by the Kit locus mutations (dominant spotting alleles). Most of the alleles at steel locus cause severe anemia in utero and death by 15 to 16 days of gestation in homozygous mutant mice. However, compounds of two steel mutants (e.g. KitlSl/KitlSl-d) are viable, black-eyed white, are usually sterile in one or both sexes, and have severe macrocytic anemia. Heterozygous steel mice have a diluted coat color with a small amount of white spotting, are viable and fertile, and may have a slight macrocytic anemia. Primordial germ cells are absent in the nonviable steel homozygotes and severely reduced in steel heterozygotes. Mast cells are virtually absent in skin and other tissues of steel mutant mice. Tumors tend to develop in germ-cell-deficient ovaries with advancing a ..... For more information please see the full phenotype on the strain data sheet | ||
| 007859 | 129S1/Sv-Sufutm1Aeb/J | Cryopreserved - Ready for recovery |
| Mice that are heterozygous for the targeted mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. Homozygous null mice have an embryonic lethal phenotype, failing to develop past embryonic days 9.5 to 10. No gene product (protein) is detected by Western blot analysis. Truncated gene product (mRNA) is detected by Northern blot analysis. Homozygous embryos at 9 to 9.5 embryonic day exhibit growth retardation, incomplete embryonic turning, abnormal somite development, abnormal heart looping (due to abnormal left-right axial patterning) and open neural tubes. This mutant mouse strain may be useful in studies of the Hedgehog signaling pathway and embryonic development. | ||
| 003082 | 129S1/SvImJ-Bcl2tm1Mpin/J | Cryopreserved - Ready for recovery |
| Heterozygous mice exhibit expression of beta-galactosidase in populations of large sensory neurons. Mice homozygous for the Bcl2tm1Mpin targeted mutation do not produce either the a or b form of the Bcl2 protein. Bcl2 is a major regulator of programmed cell death, a critical process in shaping the developing nervous system. The absence of the Bcl2 does not significantly influence the development of motor neurons before or during the main period of physiological cell death. Rather, Bcl2 exerts its influence beyond this period, subsequent to the phase where the majority of neuronal loss normally takes place. Polycystic kidney disease is less severe in this strain compared to the Bcl2tm1Sjk targeted mutation (Stock No. 002265). | ||
| 002303 | 129S2/SvPas-Smarcad1Gt(6LSN)6028Gos/J | Cryopreserved - Ready for recovery |
| 008444 | 129S4.129S2(B6)-Fn1tm1Hyn/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the Fn1tm1Hyn targeted mutation die during early embryonic development. Blastocyst development and implantation of homozygotes is normal. Gastrulation is initiated and appears normal, including extensive mesodermal movement. From embryonic day eight onwards homozygous mutant embryos deteriorate through the 10th and 11th days of gestation. Homozygous mutant embryos have a shortened anterior-posterior axes, fail to develop a notochord, somites, or central heart (on the 129S4/SvJae genetic background). Heterozygous mice are viable for at least two years and appear healthy and approximately the same size as wild-type littermates. Plasma levels of fibronectin in heterozygotes are 50% lower than normal wild-type siblings. In an attempt to offer alleles on well-characterized or multiple genetic backgrounds, alleles are frequently moved to a genetic background different from that on which an allele was first characterized. This is the case for the st ..... | ||
| 002323 | 129S4/SvJae-Inhbbtm1Jae/J | Cryopreserved - Ready for recovery |
| Homozygous mice are deficient in activin B (betaB:betaB), activin AB (betaA:betaB) and inhibin B (alpha:betaB). Heterozygotes appear normal. Homozygous mutants complete embryonic development and are viable. They are born, however, with open eyes which leads to the development of eye lesions. Homozygous males breed normally but mutant females exhibit a profoundly impaired reproductive ability, characterized by perinatal lethality of their offspring. Mutant females have an increased gestation time and decreased nursing ability that may be the result of impaired milk let-down. There is an upregulation of beta-A activin which may contribute to the phenotype. | ||
| 001279 | 129T1/Sv-Oca2+ Tyrc-ch Aft/J | Cryopreserved - Ready for recovery |
| Aft is a dominant mutation that causes increased postnatal lethality in heterozygotes and nearly 100% embryonic or perinatal lethality in homozygotes. Aft/+ mice can be identified by tail kinks near the tail tip and syndactyly of the third and fourth digits of the hind feet, a trait which is often unilateral. This syndactyly does not result from bone fusion, but rather from the persistence of the skin web that normally is removed via apoptosis during development. The tail kinks appear to result from cartilage overgrowth and fusion. Alopecia is found at six to eight months of age and can progress into bleeding ulcerations. Histology of Aft/+ skin shows fewer follicles, fibrosis, and an increase in the number of mast cells. The penetrance of this mutation is only approximately 65% on the 129/Sv and C57BL/6J backgrounds and the expressivity is variable. The most prevalent trait in Aft/+ mice is tail kinks, followed by syndactyly then skin lesions. The For more information please see the full phenotype on the strain data sheet | ||
| 000091 | 129T1/Sv-Oca2+ Tyrc-ch Dnd1Ter/J | Cryopreserved - Ready for recovery |
| 004288 | 129X1-Smotm1Amc/J | Cryopreserved - Ready for recovery |
| Mice that are heterozygous for the targeted allele are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. Homozygous null mice have an embryonic lethal phenotype, failing to develop past 9.5 days post coitum. Homozygous mutant mice exhibit ventral cyclopia and holoprosencephaly. During development homozygous mice fail to undergo embryonic turning, closure of the ventral midgut and normal rightward looping of the heart. The embryonic heart remains a linear tube. This mutant mouse strain represents a model that may be useful in studies of tumors and neural tube defects due to disruption of the hedgehog pathways. When bred to a strain with loxP sites inserted into the same targeted allele (Stock No. 004526) and a strain expressing Cre recombinase in the skin (Stock No. 004782), this mutant mouse strain may be useful in ..... | ||
| 009092 | A.129P-Skitm1Cco/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the targeted mutation die before or shortly after birth due to developmental defects. Homozygotes on the A/J background exhibit exencephaly (severe neural tube closure defects), with a higher embryonic lethality than homozygotes on the C56BL/6 or 129 backgrounds. None exhibit facial clefting. The Donating Investigator reports that homozygotes display flattened or shorter snouts, iris malformation and polydactyly. The penetrance of the phenotype is highly background dependent. Heterozygotes are viable and fertile with timely cranial neural tube closure, and a low incidence of facial clefting. The Donating Investigator reports some heterozygotes on the A/J background exhibit lateral facial clefting. This mutant strain may be useful in studies of facial cleft formation, 1p36 deletion syndrome, oncogene function, apoptosis, and neural tube and skeletal muscle defects. | ||
| 005098 | A.B6 Tyr+-Spnb4qv-7J/J | Cryopreserved - Ready for recovery |
| This phenotype becomes visible at 4 weeks of age (+/- 0.4, n=14); the mutants are smaller than their littermates and have difficulty supporting their weight on their hind limbs, which they drag intermittently. Mobility is limited but the mice are able to move around slowly. When the mice are lifted by their tail, the hind limbs may show typical extension initially but then are quickly clasped to the body.
Mapping results showed NMF261 to be nonrecombinant with D7Mit266 +/- 5.5 cM (one-sided 95% confidence limit; n=19 affected, n=14 unaffected F2); however, further information was obtained through a complementation test with Spnb4qv-lnd (Jax# 001769), i.e.the results of one heterozygote mating between NMF261 and Spnb4 resulted in 2 affected mice in a total of 8 progeny, suggesting NMF261 to be an allele of Spnb4qv-lnd. Standard pathology work-up on three mutants (43, 49, or 88 days of age) revealed no abnormalities; whole muscle mounts of ..... For more information please see the full phenotype on the strain data sheet | ||
| 005012 | A.B6 Tyr+-Myo5ad-l31J/J | Cryopreserved - Ready for recovery |
| The mutants are small with impaired hind limb movement, i.e. 'hot-foot' like behavior (of one or both limbs), and show agouti dilute coat color. These mice are fragile and usually die by or before 5 weeks of age; a colony needs to be maintained through ovarian transplants. Complementation tests between heterozygous NMF244 and DLS/LeJ mice produced six affected mice in a total of 22 progeny, suggesting that NMF244 represents a new allele of dilute-lethal in the Myo5a gene. These affected mice show a more severe phenotype than NMF244, i.e. they intermittently lean to the side, fall over, but are able to regain their walking position; they also show a non-agouti grey coat color. The coat color appears to result from a non-agouti grey allele that is known to exist in heterozygotes for the dilute-lethal allele of Myo5a, and becomes apparent in the presence of the agouti dilute allele, carried by the female NMF244. Standard pathology work-up on three mutants (23 - 29 days of age) reveale ..... For more information please see the full phenotype on the strain data sheet | ||
| 003485 | A/J-frg/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the froggy mutation have a smaller body size and a shortened face with wide set eyes. | ||
| 005136 | A/WySnJ-ctl/GrsrJ | Cryopreserved - Ready for recovery |
| Mice homozygous for the ctl mutation are easily recognizable at birth by their curly or bent tails. | ||
| 000004 | ABP/LeJ | Cryopreserved - Ready for recovery |
| Mice homozygous for the Tgfawa1 spontaneous mutation are recognizable at 2 or 3 days of age by their curly whiskers. The first coat is strongly waved and straight in later coats. Most of the whiskers also become straight, but the guard hairs are curved and shorter than normal. Some homozygotes have eyelids open at birth.
Mice homozygous for the recessive Adamts20bt mutation have a dorsal and a ventral unpigmented patch posterior to the midline of the trunk with the dorsal patch usually being larger than the ventral patch. These patches run in a more transverse orientation across the mouse than lengthwise and often extend around the sides of the mouse to form a white belt. The size of the patches can vary from approximately 1 to 20 percent of the surface. Unlike other spotting mutations, no variability in phenotype was identified when belted was transferred onto the C57BL/6J or JU/CtLm backgrounds (Lamoreaux 1999). Murray and Snell reported findin ..... | ||
| 000251 | AEJ.Cg-ae +/a Gdf5bp-H/J | Cryopreserved - Ready for recovery |
| 000277 | ATEB/LeJ | Cryopreserved - Ready for recovery |
| Mice homozygous for the atrichosis spontaneous mutation (at) are characterized by sparsely distributed hair, especially on the trunk. The amount of hair varies, but affected mice can be easily recognized at 8 to 10 days old. Both sexes are sterile and have very small gonads with few germ cells. There is a great deficiency of primary spermatogonia in the testes. A quantitative study of maturation of ovarian oocytes showed that the proportion of resident oocytes recruited into the first wave of growth was much higher than in phenotypically normal heterozygous controls (J.J. Eppig, personal communication). This strain is also segregating for the eye blebs spontaneous mutation (Grip1eb). | ||
| 006446 | B10.Cg-H2h4 Sh3pxd2bnee/GrsrJ | Cryopreserved - Ready for recovery |
| Mice homozygous for the nose eyes ear mutation are runted, with proportionally smaller skeletons, shortened noses, shortened and domed skulls, reduced areal bone mineral density, diminished visceral and subcutaneous white adipose tissue, but not brown adipose tissue, and abnormal eyes and middle ears. The eyes have an enlarged anterior chamber, cloudy cornea, and severe peripheral anterior synechia of the irideocorneal angle. The middle ear shows inflammation as serous fluid with diffuse neutrophils with thickened epithelium. Elevated ABR thresholds are found in all homozygotes and homozygotes are infertile. | ||
| 000460 | B10.D2-Hc0 H2d H2-T18c/o2SnJ | Cryopreserved - Ready for recovery |
| This congenic strain carries the H2d haplotype from DBA/2J following six generations of backcrossing to C57BL/10Sn. This strain still carries the Hc0 allele from DBA/2J, making them serum C5 deficient. Mice have increased susceptibility to certain pathogens and impaired chemotactic responses of neutrophils. Allograft rejection is prolonged. The following inbred strains are also homozygous for the Hc0 allele: A/HeJ (Stock No. 000645), AKR/J (Stock No. 000648), DBA/2J (Stock No. 000671), NOD/LtJ (Stock No. 001976), NZB/BlNJ (Stock No. 000684), and SWR/J (Stock No. 000689). | ||
| 000214 | B10.D2/nSn-ShhHx/J | Cryopreserved - Ready for recovery |
| 001013 | B10.D2/nSnJ-Myo5ad-n/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the dilute-neurological spontaneous mutation (Myo5ad-n) display a neuromuscular disorder, but the condition is less severe than in dilute-lethal mutant mice (Myo5ad-l, Stock No. 000253). | ||
| 002225 | B10.M-H2f/nMob Fmn1ld-2J/J | Cryopreserved - Ready for recovery |
| 000419 | B10.UW-H3b we Pax1un at/SnJ | Cryopreserved - Ready for recovery |
| 003879 | B10;TFLe-a/a T tf/+ tf/J | Cryopreserved - Ready for recovery |
| 000405 | B10ScSn.Cg-T/J | Cryopreserved - Ready for recovery |
| 000497 | B6 x (B6xAKR-Frem1heb)F1/J | Cryopreserved - Ready for recovery |
| 000593 | B6 x B6CBCa Aw-J/A-Grid2Lc T(2;6)7Ca MitfMi-wh/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the MitfMi spontaneous mutation are characterized by decreased macrophage chemotactic responses, impaired proliferative responses to B cell and T cell mitogens, diminished responses in vitro to T-dependent and T-independent antigens and reduced NK cell activity. | ||
| 000599 | B6 x B6CBCa Aw-J/A-T(5;13)264Ca KitW-v/J | Cryopreserved - Ready for recovery |
| 000953 | B6 x BALB/cBy-T4J/J | Cryopreserved - Ready for recovery |
| 002440 | B6 x BALB/cByJ-Grid2Lc-J/J | Cryopreserved - Ready for recovery |
| 002434 | B6 x BALB/cByJ-Kcna1mceph/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the megencephaly spontaneous mutation (mceph) are characterized by a 25% increase in brain size in the first 8 months of life. This defect can be distinguished from macrocephaly, an enlarged head, which usually occurs as a consequence of congenital hydrocephalus. By 3-4 weeks of age, mice homozygous for the mceph mutation have a subtle shakiness in their gate and by 4-6 weeks are found to sit on their haunches using their tails as support with their forelimbs held loosely in front of them. They maintain this posture for a period ranging from 30 seconds to several minutes before returning to normal. They have lower overall body weights than their wildtype littermates and are hypersensitive to sharp sounds. Electroencephalogram readings for homozygotes are normal. Neither male nor female mutants breed, but ovarian transplant from homozygous donors is successful for colony maintenance. Homozygotes have an increased brain mass that is evident by one t ..... For more information please see the full phenotype on the strain data sheet | ||
| 002533 | B6 x BALB/cByJ-Lpin1fld/J | Cryopreserved - Ready for recovery |
| 002239 | B6 x BALB/cJ-Gdf5bp-3J/J | Cryopreserved - Ready for recovery |
| 002995 | B6 x C.B10-H2b/LiMcdJ-Fbn2fp-2J/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the recessive fused phalanges 2 Jackson mutation (Fbn2fp-2J) have syndactyly of the second, third, and/or the fourth digits of the hindlimbs with <20% showing involvement of all three digits. This syndactyly likely results from defective mesenchyme differentiation rather than failed interdigital apoptosis (Arteaga-Solis et al., 2001). This mutant has a less severe phenotype than other Fbn2 mutants do, and shows no involvement of the digits of the forelimbs. Whether this is due to the allele or the genetic background has not been determined. (Chaudhry et al., 2001.) | ||
| 001518 | B6 x STOCK T tf/th45 tf/J | Cryopreserved - Ready for recovery |
| 000578 | B6 x STOCK Tyrc-ch Bmp5se +/+ Myo6sv/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the Snell's waltzer spontaneous mutation (Myo6sv) show to a marked degree the typical circling, head-tossing, deafness, and hyperactivity of other mutant mice of this type. Homozygous mutant mice are recognizable by the age of 1 week. The abnormalities of the inner ear consist of degeneration of the entire neuroepithelium comprising the organ of Corti, the saccular and utricular maculae, and the cristae of all three semicircular canals. Although viability of homozygotes is nearly normal, breeding ability is reduced and males are more reliable breeders than females.
Specific cytoskeletal components are critical for specific cellular structures. The microvilli of intestinal brush border cells in Myo6sv homozygotes are shorter than normal. While myosin 6 is not critical for the development of hair cell stereocilia, it is essential for their maintenance. At birth the stereocilia appear nearly normal with only occasional stereocil ..... | ||
| 000577 | B6 x STOCK a Oca2p Hps5ru2 Ednrbs/J | Cryopreserved - Ready for recovery |
| 004235 | B6(AKR)-PfasSofa/J | Cryopreserved - Ready for recovery |
| The short face mutation is lethal in homozygotes and has varying penetrance in heterozygous carriers, which can be phenotypically undetectable or can display a short nose, domed skull, and wide set eyes. | ||
| 006564 | B6(C)-KitW-41J Gusbmps/BrkJ | Cryopreserved - Ready for recovery |
| Mice homozygous for the "mps" (mucopolysaccharidosis type VII or MPS VII) mutation are devoid of expression of the lysosomal enzyme beta glucuronidase. Homozygous animals are viable, but females have a deficiency in lactation. Skeletal and connective tissue anomalies in both males and females are believed to prevent successful breeding. As this mutation is recessive, heterozygous mice are phenotypically similar to wildtype. Homozygotes exhibit short and thickened long bones (smaller than heterozygous or wildtype littermates), "pug type" appearance of the nose, hepatomegaly, splenomegaly, corneal clouding, and deafness. In appearance, homozygous KitW-41J mice are mostly white with black eyes and brown or grey spots. They are fertile, distinct from mice with other alleles of Kit, and have the impaired hemopoiesis causing mild, normochromic, macrocytic anemia. MPS VII mice are a model of the beta glucuronidase enzyme deficiency in humans called Sly Disease. They ..... For more information please see the full phenotype on the strain data sheet | ||
| 008568 | B6(CAST)-Prkralear/GrsrJ | Cryopreserved - Ready for recovery |
| Homozygotes have an overall reduced body size and smaller than normal ear pinna. | ||
| 002016 | B6(Cg)-Aw-J EdaTa-6J Chr YB6-Sxr/EiJ | Cryopreserved - Ready for recovery |
| 001496 | B6(Cg)-Bmp5se-4J/J | Cryopreserved - Ready for recovery |
| 003916 | B6(Cg)-Col2a1sedc/J | Cryopreserved - Ready for recovery |
| Newborn homozygotes are smaller than normal, have a shortened trunk, and often display head bobbing. Decreased body weight persists into adulthood, and the noses, trunks, tails, skulls, and long bones of adults are shortened relative to those of normal siblings. Abnormal epiphyses, with dysplasia of the vertebrae, femora, and tibias are found. Although light microscopy failed to detect any abnormalities in the inner ear, the head bobbing characteristic accompanying this mutation is usually associated with inner ear defects. Auditory brainstem response threshold analysis of 10-15 week old homozygotes does show hearing impairment. Clefts develop between the inner and outer aspects of the inner nuclear layer of the retina (retinoschisis). | ||
| 000152 | B6(Cg)-Cys1cpk/J | Cryopreserved - Ready for recovery |
| 008149 | B6(Cg)-Snord116tm1.1Uta/J | Cryopreserved - Ready for recovery |
| Mice homozygous for this Snord116del (1-loxP or knockout) allele are viable and fertile. As the Snord116 gene cluster is imprinted and expressed only from the paternal allele, mice with paternal inheritance of the deletion lack expression of the targeted Snord116 small nucleolar RNAs (snoRNAs) gene cluster in brain tissues. Similarly, paternal transmission of the mutant allele is required to obtain the mutant phenotype in offspring. Affected heterozygotes (paternal deleted/maternal wildtype) recapitulate a subset of Prader-Willi syndrome (PWS) characteristics, including early-onset postnatal growth retardation, delayed sexual maturation, increased anxiety, motor learning deficit and hyperphagia (but not obesity). Other reported abnormalities include altered metabolic fuel usage, prolonged meal time, and increased levels of circulating ghrelin. These Snord116del mice may be useful in studying growth and feeding regulation, mechanisms of obesity, and pa ..... For more information please see the full phenotype on the strain data sheet | ||
| 008118 | B6(Cg)-Snord116tm1Uta/J | Cryopreserved - Ready for recovery |
| Mice homozygous for this 2-loxP (floxed) allele are viable and fertile, with loxP sites flanking the Snord116 small nucleolar RNAs (snoRNAs) gene cluster. When bred to mice that express Cre recombinase, the resulting offspring will have this gene cluster deleted in the cre-expressing tissue(s). Because the Snord116 gene cluster is imprinted and only expressed from the paternal allele, breeding 2-loxP males with cre-expressing females may be required to generate deleted offspring with the knockout phenotype. The donating investigator reports that the distance between the two loxP sites (~140 kb) may reduce the recombination efficiency in somatic cells. As deletions of the Snord116 cluster are associated with Prader-Willi syndrome (PWS), mice carrying the 2-loxP (floxed) allele may be useful in generating conditional mutations for studying the role of Snord116 in growth and feeding regulation, mechanisms of obesity, and patho ..... For more information please see the full phenotype on the strain data sheet | ||
| 005624 | B6(V) Lepob-whe/GrsrJ | Cryopreserved - Ready for recovery |
| White eye homozygotes have partially or completely open eyelids at two days of age. Subsequently, likely as a consequence of infection, homozygotes develop a small white spot and atypical growth of blood vessels on the cornea of each eye, although occassionally only one eye is affected. | ||
| 008129 | B6(V)-Bhrd/GrsrJ | Cryopreserved - Ready for recovery |
| Females heterozygous for the bad hair day mutation have patches of fur missing from the coat, male hemizygotes are almost bald, and female homozygotes are nearly as bald as hemizygous males. Hairs from heterozygous females are morphologically normal, while those from hemizygous males are short and thin. There is increased pigment in the hairs of both hemizygotes and heterozygotes. | ||
| 002552 | B6(V)-Cdh23v-2J/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the waltzer 2J spontaneous mutation (Cdh23v-2J) show the circling, head-tossing, deafness, and hyperactivity typical of the circling mutants. Homozygous mutant mice are very similar to the other waltzer mutants (Cdh23v and Cdh23v-J). Most homozygotes are deaf from birth. Abnormalities of the inner ear include degeneration of the organ of Corti, spiral ganglion, stria vascularis, and saccular macula. Double heterozygotes with shaker-1 (v/+ Myo7ash1/+) are deaf beginning at 3 to 6 months. Double heterozygotes have changes similar to those of the homozygotes in the organ of Corti, stria vascularis, and spiral ganglion, but less severe and with much later onset. Viability and breeding ability are somewhat reduced. | ||
| 005245 | B6.129(C)-Nrp1tm1Ddg/J | Cryopreserved - Ready for recovery |
| Mice that are homozygous for the targeted mutation are viable, but experience fertility problems. Homozygous mice have increased incidence of postnatal lethality by 7 days of age. Mutant mice express normal levels of gene product of the variant protein that does not bind semaphorins and retains binding ability for VEGF. Homozygotes display axon guidance defects with little or no binding activity of semaphorin 3A or 3C to axons in the dorsal root entry zone. Cultured neurons isolated from mutant mice do not respond to semaphorin3A. Cranial and spinal neurons from E11.5 and E12.5 embryos are disorganized, defasciculated and have abnormal errant projections. This mutant mouse strain may be useful in studies of neural development and axonal guidance. | ||
| 012239 | B6.129(Cg)-Cd44tm1Hbg/SjJ | Cryopreserved - Ready for recovery |
| Mice that are homozygous for the targeted mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. No gene product (mRNA or protein) is detected. Although lymphocyte development appears unremarkable, irregularities are observed in lymphocyte trafficking. Tail-injected lymphocytes derived from null animals exhibit an impaired ability to traffic to peripheral lymph nodes, and to a much greater degree, the thymus. Transcription and translation of the targeted allele subsequently lead to the synthesis of the lacZ protein under control of the 5' regulatory elements of the endogenous locus in all cells and tissues normally expressing one or several of the CD44 isoforms. In an attempt to offer alleles on well-characterized or multiple genetic backgrounds, alleles are frequently moved to a genetic background different from that on which an allele was first characterized. It should be noted that the phenotype could vary f ..... | ||
| 006203 | B6.129(FVB)-Ahrtm3.1Bra/J | Cryopreserved - Ready for recovery |
| These mice possess loxP sites on either side of exon 2 of the targeted gene. Mice that are homozygous for this allele are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. Hepatic protein expression of the conditional allele (before exon 2 excision) is equivalent to wildtype by Western blot analysis. This strain may be useful in generating tissue-specific mutants of the floxed allele for use in studies including teratogenesis and xenobiotic metabolism (including dioxin and PCB), Per-Arnt-Sim transcription factors, and fetal vascular development such as ductus venosus closure.
When bred to a strain expressing Cre recombinase in hepatocytes (see Stock No. 003574 for example), this mutant mouse strain may be useful in studies of toxicology. When bred to a strain expressing Cre recombinase in endothelial cells (see Stock No. For more information please see the full phenotype on the strain data sheet | ||
| 007248 | B6.129(FVB)-Col1a2tm1.1Mcbr/J | Cryopreserved - Ready for recovery |
| These mice harbor a point mutation knock-in patterned after the variant found among Old Order Amish kindred (OOA) of Lancaster County, Pennsylvania. Mice exhibit reduced body mass and reduced bone mass density by 2 months of age. Homozygotes do not survive to weaning age. These mutant mice express mutant type I collagen similar to that observed in humans with osteogenesis imperfecta. Incorporation of the point mutation was verified by sequence analysis. Mutant mRNA is detected by RT-PCR analysis of total RNA. | ||
| 005247 | B6.129(SJL)-Nrp1tm2Ddg/J | Cryopreserved - Ready for recovery |
| These mice possess loxP sites on either side of exon 2 of the targeted gene. Mice that are homozygous for this allele are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. When used in conjunction with a Cre recombinase-expressing strain, this strain is useful in generating tissue-specific mutants of the floxed allele. | ||
| 002831 | B6.129-Ahrtm1Bra/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the targeted mutation are viable. Homozygotes do not respond to aryl-hydrocarbon receptor agonists. They show reduced liver weight (25% decrease) delayed extramedullary hematopoiesis, and transient hepatic microvesicular steatosis. | ||
| 007447 | B6.129-Akap6tm1Jsco/14J | Cryopreserved - Ready for recovery |
| Homozygous mice have reduced viability, especially on a C57BL/6 background. Approximately 1 out of 4 homozygotes are very small and die before reaching 2 weeks of age. The remaining homozygotes are 20-30% smaller than wildtype and heterozygous littermates; these survive and eventually become similar in size to wildtypes. All homozygotes have a characteristic craniofacial defect that includes a very pointed nose, eyes that are delayed in opening, and a shortened jaw. The alpha transcript of the gene is absent, as determined by brain mRNA and protein assays. Beta transcript RNA is present in heart and brain. | ||
| 007448 | B6.129-Akap6tm1Jsco/38J | Cryopreserved - Ready for recovery |
| Homozygous mice have reduced viability, especially on a C57BL/6 background. Approximately 1 out of 4 homozygotes are very small and die before reaching 2 weeks of age. The remaining homozygotes are 20-30% smaller than wildtype and heterozygous littermates; these survive and eventually become similar in size to wildtypes. All homozygotes have a characteristic craniofacial defect that includes a very pointed nose, eyes that are delayed in opening, and a shortened jaw. The alpha transcript of the gene is absent, as determined by brain mRNA and protein assays. Beta transcript RNA is present in heart and brain. | ||
| 006257 | B6.129-Aldh5a1tm1Kmg/J | Cryopreserved - Ready for recovery |
| Homozygous mutation of this gene results in reduced body weight, ataxia, seizures, gliosis of the hippocampus, and eventual status epilepticus. From 19-26 days of age, repetitive tonic-clonic seizures results in more than 95% mortality. Biochemical assays shows complete ablation of the endogenous enzymatic activity in the brains, livers, hearts, and kidneys of homozygous mutant mice. Homozygotes have increased levels of GHB and GABA in liver and brain tissues, as well as in urine. Phenotype can be rescued to varying degrees utilizing a number of both pharmacotherapeutic and gene therapeutic approaches. Although heterozygous mice have approximately 50% of the endogenous enzyme activity compared to wildtype mice, they are viable and fertile. Mice with this targeted mutation may be useful in studying succinate semialdehyde dehydrogenase (SSADH) deficiency and to explore the effect of GABA and GHB accumulation on central nervous system development and function. | ||
| 007741 | B6.129-Arg1tm1Rki/J | Cryopreserved - Ready for recovery |
| Homozygous AI-mutant mice completely lack hepatic arginase (AI) activity, exhibit hyperagrininemia, severe symptoms of hyperammonemia (ncluding decerebrate posture, lethargy, and high-frequency tremor of the extremities, particularly the tail) and die between 10-14 days after birth. Neural stem cells (NCSs) isolated from homozygous mice exhibit abnormal proliferation and differentiation. In addition, haploid germ cells carrying the disrupted AI allele may be less fit/less effective in forming zygotes compared to wild-type spermatozoa. Heterozygotes are viable and fertile. These AI-mutant mice may be useful in studying metabolic defects of arginase I deficiency, urea cycle (excretion of excess nitrogen), and neuronal development and function. | ||
| 003178 | B6.129-Arnttm1Mcs/J | Cryopreserved - Ready for recovery |
| Arnt-/- embryonic stem cells fail to activate genes that normally respond to low oxygen tension. They also fail to respond to a decrease in glucose concentration, indicating that ARNT is crucial in the response to hypoxia and to hypoglycaemia. Arnt-/- embryos were not viable past embryonic day 10.5 and showed defective angiogenesis of the yolk sac and branchial arches, stunted development and embryo wasting. The defect in blood vessel formation in Arnt-/- yolk sacs is similar to the angiogenic abnormalities reported for mice deficient in vascular endothelial growth factor or tissue factor. | ||
| 002991 | B6.129-Ascl1tm1And/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the Ascl1tm1And targeted mutation die within 24 hours after birth. There are no gross external defects; However, mutant mice do have extensive loss of sympathetic ganglia and olefactory epithelium. | ||
| 004183 | B6.129-Bak1tm1Thsn/J | Cryopreserved - Ready for recovery |
| Mice that are homozygous null for the targeted mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. There were no statistically significant differences in apoptotic cell survival assays between the mutant and wild-type. Used in conjunction with strain B6.129X1-Baxtm1Sjk (see Stock No. 002994), to generate the double knock-out Bak/Bax, a model for demonstrating severe defects in the regulation of apoptosis during development and tissue homeostasis. When bred to a strain with loxP sites inserted into one Bax locus and a null allele at the other locus (Stock No. 006329) and a strain with a Cd19 null allele and expressing Cre recombinase during B lymphocyte development and differentiation (Stock No. 004126), this muta ..... | ||
| 010727 | B6.129-Bbs2tm1Vcs/J | Cryopreserved - Ready for recovery |
| Homozygous targeted mutant animals develop obesity that increases with age (cause unknown). They have phenotypes associated with selective cilia dysfunction, including retinopathy, renal cysts, and a deficit in olfaction. Retinal degeneration is characterized by a mislocalization of rhodopsin followed by photoreceptor apoptosis. Male sperm do not develop flagella, causing infertility. Heterozygous crosses produce fewer homozygotes than predicted by Mendelian ratios. Mice also exhibit a defect in social function. This strain may be useful as a model for Bardet-Biedl syndrome. | ||
| 010728 | B6.129-Bbs4tm1Vcs/J | Cryopreserved - Ready for recovery |
| These targeted mutation mice have phenotypes associated with a selective lack of cilia formation or function. Homozygotes weigh less than their littermates at 3 weeks of age, but for unknown reasons become obese over time. Retinal degeneration begins at birth and continues until the entire photoreceptor cell layer is ablated at about 7 months of age. Sperm never develop flagella, causing male infertility. Northern blot analysis confirms that expression of the targeted gene is eliminated in eyes, brain, kidney, ovary, liver, spleen, heart, lungs, and muscle. This strain may be useful as a model for some features of Bardet-Biedl syndrome. | ||
| 003509 | B6.129-Blmhtm1Geh/J | Cryopreserved - Ready for recovery |
| Bleomycin (BLM) is a clinically used glycopeptide anticancer agent. It is deaminated in vitro by BLMH. Blmh null mice have decreased viability and fertitility. Only about 65% of the expected number survive the neonatal period. Mice lacking Blmh exhibit variably penetrant tail dermatitis that resembles rodent ringtail. This resembles skin lesions in humans with pellagra, necrolytic migratory erythema, and acrodermatitis enteropathica. Null mice also are more sensitive to acute BLM lethality and develop pulmonary fibrosis following BLM treatment. | ||
| 009644 | B6.129-Cby1tm1Ktkm/J | Cryopreserved - Ready for recovery |
| Homozygous targeted mice are runted and demonstrate a failure to thrive. Most die before or around weaning age. Mice surviving after postnatal day 25 (P25) usually recover and apparently have normal life spans. All of the mice develop rhinitis and sinusitis and are unable to clear Pseudomonas aeruginosa bacteria from the nasal cavity. There is a complete absence of mucociliary transport caused by a marked lack of motile cilia in the nasal epithelium. Anemia and ductal dilation in the pancreas and kidneys is also observed. Homozygous males have compromised fertility. This strain may be useful as a model of primary ciliary dyskinesia. | ||
| 006942 | B6.129-Cd33tm1Ajv/J | Cryopreserved - Ready for recovery |
| Mice that are homozygous for the targeted mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. No expression of the targeted gene's protein product is detected on the cell surface, as determined by flow cytometry analysis of hematopoietic cell populations in blood and lymphoid organs from homozygotes. Homozygotes exhibit a slight decrease in the mean erythrocyte count and hematocrit and an increase in the mean concentration of serum aspartate aminotransaminase. Experimentally induced peritonitis and systemic inflammation results in reduced immunological response. This mutant mouse strain may be useful in studies of glycosidic molecular interactions and function, hematopoiesis and immune response. This strain was transferred from the collection of the Consortium for Functional Glycomics. | ||
| 005789 | B6.129-Cer1tm1Dgen/J | Cryopreserved - Ready for recovery |
| This targeted mutant was created and characterized by Deltagen, Inc. View phenotypic data developed by Deltagen. | ||
| 006910 | B6.129-Crkltm1Hkp/J | Cryopreserved - Ready for recovery |
| While heterozygous mice are viable and fertile, mice homozygous for this targeted allele die in utero. Immunoblots from homozygous tissues show no protein expression from the targeted gene. The prenatal lethality exhibited by homozygotes on this C57BL/6J congenic background (and also on a 129Sv genetic background) likely results from heart, liver, and placental defects. Please note that homozygous mutants on a mixed/outbred genetic background (129/Sv X Black Swiss) are viable and fertile. These mutant mice may be useful in studying the role of Crkl tyrosine-phosphorylation in Bcr/Abl (Philadelphia chromosome) chronic myelogenous leukemia (CML), acute lymphoblastic leukemia (ALL), Digeorge Syndrome (DGS) and Velocardiofacial Syndrome. | ||
| 006836 | B6.129-Dag1tm1Kcam/J | Cryopreserved - Ready for recovery |
| Heterozygotes are viable and fertile, but homozygous embryos exhibit gross developmental abnormalities beginning around 6.5 days of gestation. This lethality is attributed to a disruption of Reichert’s membrane, an extra-embryonic basement membrane. Laminin and collagen IV are specifically disrupted. No detectable transcript or protein is produced from this allele in homozygous embryos. Northern blot analysis of skeletal muscle RNA shows that transcript levels in heterozygotes are only 10-20% lower than those in wild-type mice. This mutant mouse strain represents a model that may be useful in studies of muscular dystrophies linked to dystrophin-glycoprotein complexes, and developmental processes. | ||
| 005951 | B6.129-Dgat2tm1Far/J | Cryopreserved - Ready for recovery |
| Mice that are homozygous for the targeted mutation have a perinatal lethal phenotype, most fail to survive past 6 hours after birth due to dehydration, skin barrier abnormalities, hypothermia and energy deficiencies. Reduced levels of gene product (mRNA) are detected by RT-PCR analysis of brown adipose tissue and livers of neonate homozygous mutants. Growth retardation is observed in homozygous embryos after embryonic day 12.5. Newborn homozygotes are hypoglycemic and lipopenic, exhibiting reduced plasma triglyceride, free fatty acid and glucose levels and have almost no white fat tissue. Within a few hours of birth, the skin of homozygotes becomes dry and cracked. Homozygous mutants rapidly lose weight due to dehydration caused by impaired permeability barrier function. Histological analysis of skin tissue from homozygotes reveals abnormally thin epidermis and compact orthohyperkeratosis of the stratum corneum. Homozygotes surviving between 8 and 24 hours develop tail necrosis. Hetero ..... For more information please see the full phenotype on the strain data sheet | ||
| 002957 | B6.129-Dll1tm1Gos/J | Cryopreserved - Ready for recovery |
| Mouse embyros homozygous for the Dll1tm1Gos targeted mutation establish a primary metameric pattern in the mesoderm. Cytodifferentiation appears normal, but the segments have no cranio-caudal polarity, and no epithelial somites form. Caudal sclerotome halves do not condense, and the pattern of spinal ganglia and nerves is perturbed, indicating loss of segment polarity. Myoblasts span segment borders, demonstrating that these borders are not maintained. | ||
| 006887 | B6.129-Dpagt1tm2Jxm/J | Cryopreserved - Ready for recovery |
| Mice homozygous for this floxed targeted mutation are viable and fertile and do not display any gross physical or behavioral abnormalities. When bred to cre transgenic strains, the loxP-flanked exon is deleted by cre expression to produce a null allele. | ||
| 004276 | B6.129-Figntm1Frk/Frk | Cryopreserved - Ready for recovery |
| 004478 | B6.129-Foxd1tm1Lai/J | Cryopreserved - Ready for recovery |
| 006939 | B6.129-Fut1tm1Sdo/J | Cryopreserved - Ready for recovery |
| Mice that are homozygous for the targeted mutation are viable, fertile, normal in size and do not display any behavioral abnormalities. Homozygous mice may be identified by their agouti and chinchilla coat color. Alpha(1,2)fucosylated glycans are not detected in the epididymis of homozygotes. Fucosylated glycolipids (fucosyl GA1) are not detected in the pancreatic acinar glands of homozygotes. Homozygotes exhibit delayed maturation of nerve fibers in the glomerular layer of the olfactory bulb due to absence of cell surface carbohydrate, blood group H carbohydrate, expression in primary sensory neurons. The Donating Investigator reports that the beta-galatosidase is expressed. This mutant mouse strain may be useful in studies of glycosidic molecular interactions and function, and olfactory nerve pathway development. This strain was transferred from the collection of the Consortium for Functional Glycomics. | ||
| 007239 | B6.129-Ggcxtm1Dgi/J | Cryopreserved - Ready for recovery |
| Most homozygous embryos die between developmental days E9.5 and E18. Those that suvive gestation die at birth of massive intra-abdominal hemorrhage. Heterozygous mice exhibit normal development and survival with no evidence of hemorrhage and normal functional activity of the vitamin K-dependent clotting factors IX, X, and prothrombin. | ||
| 013095 | B6.129-Grip1tm1Rha/J | Cryopreserved - Ready for recovery |
| Most Grip1 (glutamate receptor interacting protein 1) homozygous mutants die due to massive hemorrhage of the skin during embryonic development. Animals that survive suffer from severe kidney abnormalities. Failure to express this cytoplasmic scaffolding protein leads to epidermal detachment in oral and nasal cavities, the formation of subepidermal hemorrhagic blisters (which recover during late gestation), renal agenesis, syndactyly or polydactyly of hind limbs and permanent fusion of eyelids (cryptophthalmos) reminiscent of individuals with Fraser syndrome. This strain may be useful for studies of development, Fraser syndrome, and further characterization of this gene's role in synaptic plasticity. | ||
| 007708 | B6.129-Gt(ROSA)26Sortm1(HD*103Q)Xwy/J | Cryopreserved - Ready for recovery |
| Mice heterozygous for the RosaHD mutant allele are viable and fertile. These mice have the neuropathogenic polyQ-mutant variant of the human Huntingtin protein (mhtt-exon1; 103Q) inserted into the Gt(ROSA)26Sor locus. Expression of mhtt-exon1 is blocked by an upstream loxP-flanked transcriptional STOP sequence. When bred to mice with a Cre recombinase gene under the control of a promoter of interest, the STOP sequence is deleted in the tissue of interest, and mhtt-exon1 expression is observed. As these RosaHD mutant mice allow cre-conditional expression of the neuropathogenic mhtt-exon1 protein, they may be useful in studying Huntington's disease (HD) or other polyQ disorders. Of note, sequencing of the polyQ region (using mice from the 11th backcross) indicate the actual number of repeats to be 98. For example, when bred to strains expressing cre in brain tissues (such as Nestin-Cre (see Stock No. 003771 ..... | ||
| 004068 | B6.129-Iduatm1Clk/J | Cryopreserved - Ready for recovery |
| At birth, mice that are homozygous null for the Idua gene are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. No alpha-L-iduronidase enzyme activity or mRNA is detected. By three weeks of age, homozygous null mice develop a flattened facial profile and a thickening of digits. Defective bone formation is noticeable by fifteen weeks, characterized by a broadening and thickening of long bones. Evidence of lysosomal storage disorder is apparent in cells of the reticuloendothelial system at four weeks. By eight weeks progressive evidence of lysosomal storage is seen in Kupffer cells, splenic sinusoidal lining cells, chondrocytes, glial and Purkinje cells. This animal model is suitable for use in studies investigating the lysosomal storage disorder mucopolysaccharidosis type I (MPS I). | ||
| 012918 | B6.129-Ipmktm1Yrk/J | Cryopreserved - Ready for recovery |
| The critical kinase motif DVKIG found in exon 4 of Ipmk (inositol polyphosphate multikinase; also known as Ipk2) was removed in these targeted mutation mice. Homozygous embryos are smaller than their littermates and die around embryonic day 9.5 (E9.5) with multiple morphological defects, including abnormal folding of the neural tube. The allantois fails to fuse with the chorion in these embryos and somite formation is delayed. Synthesis of the majority of inositol pentakisphosphate, hexakiphosphate and pyrophosphate species are disrupted. This strain may be useful in studies of embryogenesis and development. | ||
| 003360 | B6.129-Juptm1Kem/J | Cryopreserved - Ready for recovery |
| Plakoglobin Jup null-mutant embryos die from embryonic day 10.5 onward due to severe heart defects. Some mutant embryos develop further, especially on a C57BL/6 background. These mice die around birth, presumably due to cardiac dysfunction, and with skin blistering and subcorneal acantholysis. The skin phenotype in plakoglobin-deficient mice is reminiscent of the human blistering disease, epidermolytic hyperkeratosis. | ||
| 003334 | B6.129-Juptm1Ruiz/J | Cryopreserved - Ready for recovery |
| Plakoglobin (gamma catenin) is a constituent of the cytoplasmic plaque of desmosomes as well as of other adhering cell junctions, and is involved in anchorage of cytoskeletal filaments to specific cadherins. Homozygous null mutant animals die between days 12 - 16 of embryogenesis due to defects in heart function. The tissue instability correlates with absence of desmosomes in the heart. | ||
| 002938 | B6.129-Kdrtm1Jrt/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the Kdrtm1Jrt targeted mutation (formerly called Flk1) die at ~E8.5-E9.5 due to defects in hematopoietic and endothelial development. Embryos lack blood islands at E7.5 and fail to form organized blood vessels. There is severe reduction in hematopoietic progenitor cells. | ||
| 003537 | B6.129-Kif3atm1Gsn/J | Cryopreserved - Ready for recovery |
| Ciliary formation appears to be crucial in developing left-right asymmetry in early mouse embryonic development. One of the necessary cilia components is the Kif3a gene product. Homozygous Kif3a knockout mice die at 10 days postcoitum, exhibit randomized establishment of left-right asymmetry and display numerous structural abnormalities. Cardiac looping is randomized, often retarded. Growth is severely retarded with caudal truncation. A neural tube closure defect is also apparent. Scanning electron microscopy indicates the absence of embryonic cilia. A small percentage of heterozygotes exhibit morphological abnormalities. | ||
| 004098 | B6.129-Klc1tm1Gsn/J | Cryopreserved - Ready for recovery |
| The donating investigator indicates that mice that are homozygous for the targeted allele on a C57BL/6 genetic background exhibit significant perinatal mortality (60%). Mortality seems not to be a factor on a mixed B6;129 background. Surviving mice are noticeably smaller than wildtype mice. Mice surviving to adulthood breed poorly, possibly due to less than adequate nurturing capabilities. Minor amounts of a functionless, truncated protein product can be detected. Motor defects are evident, as are alterations in intracellular localization of kinesin-I and COP-I components. | ||
| 004158 | B6.129-Maftm1Gsb/J | Cryopreserved - Ready for recovery |
| Mice that are homozygous for this targeted allele appear weak, fail to feed and die within a few hours of birth from unspecified causes. Embryos exhibit a slightly foreshortened head and abnormal lens development. No Maf gene transcript is detected. Posterior lens cells from homozygotes fail to elongate. These cells display inappropriately high levels of DNA synthesis and express alpha A crystallin and all of the beta crystallin genes at dramatically reduced levels. Heterozygotes are phenotypically normal. The presence of lacZ in the targeted allele makes it possible to observe Maf expression characteristics. | ||
| 013577 | B6.129-Mesdc2tm1Bch/J | Cryopreserved - Ready for recovery |
| Mutant homozygotes display an embryonic lethal phenotype, failing to develop past embryonic day 9.5. At embryonic day 7.5, homozygous embryos lack a primitive streak and mesodermal derivatives with a smaller epiblast surrounded by an expanded parietal endoderm. Mice homozygous for this targeted mutation exhibit a phenotype similar to homozygotes carrying the mesd deletion (Holdener et al., Development. 1994;120(5):1335-46. Hsieh, J-C et al Cell 2003; 112(3): 355-367). Wnt signaling is blocked in homozygous embryos (aged embryonic day 7.5) as assessed by crossing with B6.Cg-Tg(BAT-lacZ)3Picc/J (STOCK No. 5317) mice that express beta-galactosidase in the presence of activated beta-catenin. Expression of the pluripotency molecular markers, Oct4, Nanog, and Sox2, continues in the epiblast of homozygous embryos (day 8.5). LRP2, low density lipoprotein receptor-related protein 2, or Megalin, protein is not localized to the apical membrane of the visceral endoderm ..... For more information please see the full phenotype on the strain data sheet | ||
| 006891 | B6.129-Mgat1tm2Jxm/J | Cryopreserved - Ready for recovery |
| Mice homozygous for this floxed targeted mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. When bred to tissue-specific cre transgenic strains, the loxP-flanked exon is deleted by cre expression. | ||
| 002797 | B6.129-Notch1tm1Con/J | Cryopreserved - Ready for recovery |
| 005697 | B6.129-Otx1tm4(cre)Asim/J | Cryopreserved - Ready for recovery |
| This strain expresses Cre recombinase from the targeted locus. Mice that are heterozygous for the targeted mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. Homozygotes have a perinatal lethal phenotype. Expression of the Cre recombinase gene (mRNA) under the control of the endogenous gene promoter, is detected in the lateral midbrain of embryonic day 10.5 aged embryos and in the presumptive alar-basal plate boundary of embryonic day 12.5 aged embryos, closely mimicking the endogenous gene expression pattern. When crossed with a strain containing loxP site flanked sequence of interest, Cre-mediated recombination results in tissue-specific deletion of the target. Recombination is first detected at embryonic day 8.7. This strain represents an effective tool for generating tissue specific-targeted mutants that would be useful to study developmentally critical gene function in the brain. | ||
| 004193 | B6.129-Psen1tm1Mpm/J | Cryopreserved - Ready for recovery |
| The targeted allele (PS1M146VKI) causes a mutation of the mouse Psen1 gene that results in expression of a presenilin-1 protein with the human familial Alzheimer's disease-linked mutation PS1M146V. The neo cassette was deleted from the targeted allele (using a CMV-Cre transgenic line of mice). Published findings indicate that this alteration should not influence the level of expression of mutant PS1. Northern blot analysis and RT-PCR determined mRNA expression of the targeted mutant allele is normal. Homozygous PS1M146VKI mice produce only the mutant gene product. Mice that express this targeted allele are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. Neurodegeneration seen in wild-type mice caused by excitotoxin kainate treatment is increased and accelerated in this mutant strain. Cultured cells expressing the mutant protein exhibit perturbed neuronal calcium homeostasis. This mutant mouse strain represents a model that may b ..... For more information please see the full phenotype on the strain data sheet | ||
| 003615 | B6.129-Psen1tm1Shn/J | Cryopreserved - Ready for recovery |
| Presenilin-1 is the major gene responsible for early-onset familial Alzheimer's disease. Mice that are homozygous null for this gene die within minutes after being born. Externally, mice exhibit shortened tails that curve to the right, thickened necks, loose skin and hind limbs that curve towards the midline. Their weight is 15-20% that of wildtype. Gross skeletal malformations and central nervous system abnormalities are observed. Death presumably results from impaired respiratory mechanics due to ribcage deformities. Histological examination indicates that alveoli are marginally expanded. By embryonic day 9.5, there is a drastic reduction in neural progenitor cells. Later, the brain exhibits hemorrhages and symmetric cerebral cavitation. Cavitation occurs primarily in the ventrolateral region of the ventricular zone in the posterior portion of the brain. | ||
| 006879 | B6.129-Scd2tm1Myz/J | Cryopreserved - Ready for recovery |
| While heterozygous mice are viable and fertile, mice homozygous for this targeted allele die within 24 hours of birth. Brain tissues from homozygous mice show no expression from the targeted gene. Homozygotes exhibit neonatal lethality with 100% penetrance on this genetic background (less penetrant on 129SvEv genetic background) likely due to severe skin permeability barrier abnormalities. Null mice also have abnormal epidermal morphology and abnormal lipid homeostasis in the skin and liver. These mutant mice may be useful in studying monounsaturated fatty acid synthesis, lipid biosynthesis and metabolism, cholesterol homeostasis, and skin disease, as well as obesity and diabetes. | ||
| 005709 | B6.129-Skitm1Cco/J | Cryopreserved - Ready for recovery |
| This mutant was created on a mixed (129 x C57BL/6J) background. Greater than 80% of mice on this mixed background had severe neural tube closure defects (such as exencephaly) while less than 16% exhibited facial clefting. The penetrance of these phenotypes has segregated with further backcross to C57BL/6J. The congenic mutant described here was backcrossed 12-14 times to wildtype C57BL/6J. Mice homozygous for the targeted mutation die before or shortly after birth due to developmental defects. Null mice are distinguishable from wildtype and heterozygous littermates at embryonic day 8.5 (E8.5) with delayed, but complete, cranial neural tube closure (incomplete at the normal E9.5). Ninety percent of null mice alive at E18.5 exhibit facial clefting. Other highly penetrant phenotypes include flattened snout, depressed nasal bridge, excessive orbital separation, elongated subventricular zones, vestigial polydactyly, and malformations of the olfactory bulb, iris, and ventral septum. Heterozy ..... For more information please see the full phenotype on the strain data sheet | ||
| 000447 | B6.129-Spnb1ja/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the jaundiced mutation are very pale but not jaundiced at birth, but develop severe jaundice within hours of being born. They have severe microcytic hemolytic anemia, and most die by 4 days of age, even on a mixed background, but a single blood transfusion in the first days of life can foster survival of homozygotes. On a mixed C57BL/6J x WB/Re background transfused homozygotes generally survive to adulthood and are reported to have a mean life expectancy of 3.7 months. The hemolytic anemia phenotype of these adults includes decreased hematocrit, very low red blood cell count, reticulocytosis, microcytosis, bilirubinemia, extensive iron accumulation in the kidney, elevated blood urea nitrogen, hydronephrosis, hepatomegaly, splenomegaly of predominantly red pulp, and cardiomegaly, but less severe thrombosis than is found in mice homozygous for the mutation spherocytosis (Spna1sph). The erythrocytes are extremely fragile and have a very short lif ..... For more information please see the full phenotype on the strain data sheet | ||
| 002619 | B6.129-Tgfb3tm1Doe/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the Tgfb3tm1Doe mutation are not viable. Mice exhibit cleft palate and possibly developmental defects in the lung. | ||
| 005290 | B6.129-Tulp3tm1Jng/Pjn | Cryopreserved - Ready for recovery |
| 004361 | B6.129-Xrcc5tm1Nus/J | Cryopreserved - Ready for recovery |
| Mice that are homozygous for the targeted mutation are viable, fertile, but are 40-60% the size of normal mice. No Xrcc5 protein product is detected. The growth deficiency phenotype is exhibited as early as E15.5. Organ weights, excepting lymphoid organs, are proportional to total body weight. Histological analysis shows decreased size of spleen, lymph nodes and thymus. T cell and B cell development is arrested at early precursor stages and a deficiency in V(D)J rearrangement is exhibited. B cell maturation stops at the B220+CD43+ stage. Only CD4-CD8- cells are found in the thymus. Primary embryonic fibroblasts (MEFs) have slower growth and early loss of proliferating cells. Early appearance of non-dividing cells in MEF cultures suggest early onset senescence. Karyotypes reveal increased chromosomal aberrations. Breaks or translocations occur in 83% of metaphases, polyploidy in 15%. Although cells from the mutant mice display chromosomal instability, these mice do not display ea ..... For more information please see the full phenotype on the strain data sheet | ||
| 007453 | B6.129P2(Cg)-Dhcr7tm1Gst/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the Dhcr7Ex8 allele lack the exon 8 coding sequence and flanking splice acceptor site of the targeted gene, resulting in the truncated DHCR7 mutation most frequently observed in Smith-Lemli-Opitz/RSH Syndrome (SLOS) patients (IVS8-1G > C). Although a truncated product is transcribed from the targeted gene, no mRNA containing the deleted 3'-coding region is detected in homozygous liver or brain tissue. Homozygous mice exhibit the same biochemical defects as observed with SLOS patients, including markedly reduced tissue cholesterol and total sterol levels, and 30- to 40-fold elevated concentrations of 7-dehydrocholesterol. Newborn homozygotes have difficulty breathing, do not suckle, and die soon after birth with immature lungs, enlarged bladder, and, frequently, cleft palate. These Dhcr7Ex8 mutant mice may be useful in studying Smith-Lemli-Opitz/RSH Syndrome (SLOS; a birth-defect mental-retardation syndrome) or other metabolic disorders invol ..... For more information please see the full phenotype on the strain data sheet | ||
| 005772 | B6.129P2-Acvrl1tm1Dgen/J | Cryopreserved - Ready for recovery |
| This targeted mutant was created and characterized by Deltagen, Inc. View phenotypic data developed by Deltagen. | ||
| 005770 | B6.129P2-Adamts4tm1Dgen/J | Cryopreserved - Ready for recovery |
| This targeted mutant was created and characterized by Deltagen, Inc. View phenotypic data developed by Deltagen. | ||
| 005771 | B6.129P2-Adamts5tm1Dgen/J | Cryopreserved - Ready for recovery |
| This targeted mutant was created and characterized by Deltagen, Inc. View phenotypic data developed by Deltagen. | ||
| 002053 | B6.129P2-Apobtm1Unc/J | Cryopreserved - Ready for recovery |
| The Apobtm1Unc targeted mutation produces a truncated form of the apolipoprotein B protein (APOB70)and no apoB100 that is similar to human familial hypobetalipoproteinemia condition. Expression of apoB48 is not altered. Homozygous mice show greatly reduced levels of plasma APOB, beta-lipoproteins, and total cholesterol. They also have reduced plasma triglyceride concentrations, fasting chylomicronemia, and reduced high density lipoprotein (HDL) cholesterol. Homozygotes also have a high incidence of exencephaly and hydrocephaly. Heterozygous mice show a slight increase over wildtype in the incidence of hydrocephaly. | ||
| 005784 | B6.129P2-Capn5tm1Dgen/J | Cryopreserved - Ready for recovery |
| This targeted mutant was created and characterized by Deltagen, Inc. View phenotypic data developed by Deltagen. | ||
| 005785 | B6.129P2-Capn7tm1Dgen/J | Cryopreserved - Ready for recovery |
| This targeted mutant was created and characterized by Deltagen, Inc. View phenotypic data developed by Deltagen. | ||
| 003781 | B6.129P2-Clns1atm1Kwn/J | Cryopreserved - Ready for recovery |
| Mice that are heterozygous for the null Clns1a allele are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. Homozygous null mice have an embryonic lethal phenotype, failing to develop past embryonic days 3.5-7.5. More so, at least one functioning Clns1a allele is essential for embryonic stem cell viability. The Clns1a gene product is a ubiquitously expressed 26 kDa protein that is believed to play a role in cell cycle regulation and RNA processing. | ||
| 005800 | B6.129P2-Efemp2tm1Dgen/J | Cryopreserved - Ready for recovery |
| This targeted mutant was created and characterized by Deltagen, Inc. View phenotypic data developed by Deltagen. | ||
| 003025 | B6.129P2-Fmr1tm1Cgr/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the Fmr1tm1Cg targeted mutation show macroorchidism (enlarged testes), learning deficits, and hyperactivity. Macroorchidism in caused by an increased rate of Sertoli cell proliferation during embryogenesis which may be independent of FSH signalling. Comparison of homozygotes to wildtype littermates in hidden- and visible-platform water maze learning showed deficits in spatial learning and motor performance. | ||
| 005803 | B6.129P2-Fzd1tm1Dgen/J | Cryopreserved - Ready for recovery |
| This targeted mutant was created and characterized by Deltagen, Inc. View phenotypic data developed by Deltagen. Initial reports from Delatagen state that homozygous animals are viable and fertile. However, it is the experience of The Jackson Laboratory that homozygous animals are not recovered from heterozygous matings. More that 100 progeny from heterozygous matings were genotyped. | ||
| 005804 | B6.129P2-Fzd8tm1Dgen/J | Cryopreserved - Ready for recovery |
| This targeted mutant was created and characterized by Deltagen, Inc. View phenotypic data developed by Deltagen. | ||
| 003316 | B6.129P2-Gcktm1Efr/J | Cryopreserved - Ready for recovery |
| Glucokinase catalyzes a rate-limiting step in glucose metabolism in hepatocytes and pancreatic beta cells and is considered the "glucose sensor" for regulation of insulin secretion. Patients with maturity-onset diabetes of the young (MODY) have heterozygous point mutations in the glucokinase gene that result in reduced enzymatic activity and decreased insulin secretion. Disruption of the glucokinase gene results in a phenotype similar to MODY in heterozygous mice. These mice manifest a decreased insulin secretory response to glucose. | ||
| 010949 | B6.129P2-Grem1tm1Rmh/J | Cryopreserved - Ready for recovery |
| Mice that are homozygous for the targeted mutation lack kidneys and die within 48 hours of birth. These mice exhibit a single bone in both the forelimb and hindlimb zeuogopod, missing digits and abnormal maintenance of interdigital tissue. Beta galactosidase expression in the embryonic limbs, somites and flank is consistent with the expression of gremlin 1. This mutant mouse strain may be useful in studies of limb patterning and kidney development.
In an attempt to offer alleles on well-characterized or multiple genetic backgrounds, alleles are frequently moved to a genetic background different from that on which an allele was first characterized. It should be noted that the phenotype could vary from that originally described. We will modify the strain description if necessary as published results become available. | ||
| 008313 | B6.129P2-Hlxtm1Rph/J | Cryopreserved - Ready for recovery |
| Homozygous null mice have an embryonic lethal phenotype. Homozygous mice on the C57BL/6 and B6;129 mixed background fail to develop past embryonic days 15.5 due to impaired fetal hematopoiesis (anemia, hypoplastic and abnormal development of the liver, hypoplastic gut). Homozygous mice on the FVB/N background survive through embryonic day 18.5 and dead homozygote newborn pups are observed. Late gestation homozygous embryos on the FVB/N background are smaller than wildtype littermates, pale, hydropic (subcutaneous fluid ballooning skin), and have impaired neural crest cell and enteric neuron migration from the stomach to intestine. Mice that are heterozygous for the targeted mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. Naive CD4 T cells from heterozygotes exhibit increased responsiveness to IL-4, resulting in differentiation of more Th2 cells. This mutant mouse strain may be useful in studies of liver and gastrointe ..... For more information please see the full phenotype on the strain data sheet | ||
| 012922 | B6.129P2-Impad1Gt(RST634)Byg/J | Cryopreserved - Ready for recovery |
| Homozyous Impad1 (inositol monophosphatase domain containing 1; also called gPAPP) mutant mice die within 10 minutes of birth due to severe respiratory insufficiency and chondrodysplasia. Mutants have shortened limbs due to defects in endochondral ossification which are hypothesized to be due to an undersulfonation of chondroitin and heparin sulfate. No phenotypic differences have been observed between this C57BL/6 background strain and the mixed C57BL/6-129 background strain (Stock No. 012921). This strain may be useful in studies of skeletal development and sulfation. | ||
| 005822 | B6.129P2-Lmbr1tm1Dgen/J | Cryopreserved - Ready for recovery |
| This targeted mutant was created and characterized by Deltagen, Inc. View phenotypic data developed by Deltagen. | ||
| 008171 | B6.129P2-MaeaGt(XG702)Byg/LlpJ | Cryopreserved - Ready for recovery |
| Homozygotes die after embryonic day 19.5 and before birth. These homozygotes are smaller than normal from embryonic day 14.5 on, have increased nucleated, immature erythrocytes in the peripheral blood, lack erythroblastic islands in the liver, and have only a quarter to a third the normal number of F4/80 staining macrophages in the liver. These macrophages are morphologically abnormal and fail to facilitate erythroblast enucleation. | ||
| 002405 | B6.129P2-Ncam1tm1Cgn/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the Ncam1tm1Cgn targeted mutation show a 10% reduction in overall brain weight and 36% reduction in olfactory bulb size. Motor end plates were 14% smaller in NCAM-deficient mice compared to controls, and the formation of junctional folds was delayed. They also show deficits in spatial learning and in the amount of protein-bound alpha-(2,8)-linked polysialic acid. Both homozygous and heterozygous mutant mice are reportedly more aggressive than wildtype controls. | ||
| 005828 | B6.129P2-Ppardtm1Dgen/J | Cryopreserved - Ready for recovery |
| This targeted mutant was created and characterized by Deltagen, Inc. View phenotypic data developed by Deltagen. | ||
| 005831 | B6.129P2-Ppm1ftm1Dgen/J | Cryopreserved - Ready for recovery |
| This targeted mutant was created and characterized by Deltagen, Inc. View phenotypic data developed by Deltagen. | ||
| 005711 | B6.129P2-Prkcqtm1Litt/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the targeted allele are viable, fertile, normal in size, and do not display any behavioral abnormalities. No endogenous or truncated protein product was detected in thymocytes or T cells. Mature T lymphocytes from null mice have blunted proliferative responses with decreased levels of both IL-2 and IL-2 receptor, and defective T cell receptor-initiated IkappaB-degradation/NF-kappaB activation. Homozygous mice exhibit severely impaired Th2, but normal Th1, immune responses as well as abnormal insulin signaling and glucose transport. Mutant mice also have defective regulatory T cell development (very low CD25 expression). This mutant may be suitable for use in studies related to T cell proliferation/signal transduction/immunodeficiency, Th2-mediated disease, asthma, and diabetes.
These mice have been found to also carry the Crb1rd8 allele. | ||
| 003142 | B6.129P2-Prlrtm1Cnp/J | Cryopreserved - Ready for recovery |
| There is complete female sterility due to abberant estrous cycles, abnormal preimplantation development of eggs, no implantation of blastocysts, lack of pseudopregnancy. Males show slightly delayed fertility. Mammary development is markedly affected. Homozygotes have no mammary development and do not lactate. Heterozygotes are unable to lactate after the first pregnancies, but attain some degree of lactation as they age or after multiple pregnancies. Serum prolactin levels are increased 60 - 100 fold in both males and females. Maternal behavior is diminished in pimiparous and nulliparous animals. Bone remodelling is decreased in homozygote mutants. | ||
| 005827 | B6.129P2-Ptch2tm1Dgen/J | Cryopreserved - Ready for recovery |
| This targeted mutant was created and characterized by Deltagen, Inc. View phenotypic data developed by Deltagen. | ||
| 005799 | B6.129P2-S1pr4tm1Dgen/J | Cryopreserved - Ready for recovery |
| This targeted mutant was created and characterized by Deltagen, Inc. View phenotypic data developed by Deltagen. | ||
| 012915 | B6.129P2-Stmn1tm1Wed/J | Cryopreserved - Ready for recovery |
| In this strain, the allele replaces exons 2-3 of the endogenous Stathimin 1 (Stmn1, or metablastin) gene with a neomycin resistance (neo) cassette, abolishing gene function. Mice homozygous for the metablastin allele are viable, fertile, and normal in size. Homozygous mice do not breed very well and pups have decreased weight and survival compared to wildtype. Metablastin-/- mice are deficient in innate and learned fear, and show improper threat assessment and a lack of motivation to care for or protect their young. They also exhibit a decrease in long-term memory associated with fear conditioning. These mice may be useful for studying microtubules, neural circuitry, innate and learned fear, behavior, cell cycle regulation, parental behaviors and adult social interactions | ||
| 010916 | B6.129P2-Szt2Gt(XH662)Byg/FrkJ | Cryopreserved - Ready for recovery |
| On the C57BL/6J background no homozygotes were found to survive to birth, but on the 129S1/SvImJ background (stock #010917) approximately 10% of homozygotes survive, have a diluted coat color, and may have a more severe electroconvulsive seizure phenotype than Szt2tm1Frk homozygotes. Heterozygotes have a slight increase in electroconvulsion over wild-type controls. | ||
| 005847 | B6.129P2-Tgfbr1tm1Dgen/J | Cryopreserved - Ready for recovery |
| This targeted mutant was created and characterized by Deltagen, Inc. View phenotypic data developed by Deltagen. | ||
| 004751 | B6.129P2-Ugt8atm1Pop/J | Cryopreserved - Ready for recovery |
| Mice that are homozygous for the targeted mutation have a postnatal lethal phenotype and most do not survive past postnatal day 21 to 28. Surviving homozygotes do not live past 100 days of age. Homozygous female mice are fertile but unable to care for pups. Homozygous male mice are infertile. No gene product (mRNA) is detected by Northern blot analysis of brain tissue from homozygote animals. Mice that are homozygous for the mutation are smaller in size than wildtype and heterozygous littermates. Beginning at 12-14 days of age, homozygotes develop mild ataxia, head jerking movements, and tremors that become more noticeable by 16-20 days of age. The abnormal neurological phenotype is progressive; by 60 days of age many mutants exhibit complete hindlimb paralysis and difficulty breathing. Homozygotes do not synthesize galactolipid galactocerebroside, heterozygotes exhibit reduced levels. Although myelin synthesis and myelin sheath (compact myelin) formation is mostly unaltered in homozyg ..... For more information please see the full phenotype on the strain data sheet | ||
| 005601 | B6.129S-Atxn1tm1Hzo/J | Cryopreserved - Ready for recovery |
| Mice that are heterozygous for the targeted mutation are viable but have a reduced lifespan (34-40 weeks). The allele consists of a 154 CAG trinucleotide repeat unit placed within exon 8 of the targeted endogenous mouse locus. Modified transcripts and protein can be detected in brain tissue. By 8 weeks of age, mutant mice exhibit noticeable growth retardation. Progressive neurological degeneration initiates by 9 weeks of age, when mutant mice begin to exhibit a clasping phenotype when held by the tail. By 20 weeks of age muscle wasting, ataxia and an abnormal gait are observed. A lack of motor coordination is detected via an accelerating rotarod test by 5 to 7 weeks. Cognitive defects include poor spatial learning performance and reduced Pavlovian conditioned fear response (impaired memory). Hippocampal basal synaptic function is impaired. Immunohistochemical and immunofluorescent analysis of brain tissue reveals neuronal intranuclear inclusions by 6 weeks of age. Older animals exhibit ..... For more information please see the full phenotype on the strain data sheet | ||
| 008445 | B6.129S-Fn1tm1Hyn/2J | Cryopreserved - Ready for recovery |
| These mice carry a targeted mutation in the fibronectin 1 gene identical to that found in Stock No. 002270.
This line, backcrossed more than 13 times to C57BL/6J in the donating investigator's colony, has been used in a search for cardiac development modifier genes demonstrating phenotypic differences on C57BL/6J and 129S4/SvJae genetic backgrounds (Astrof, 2007). In the majority of 129S4 background homozygous targeted mutant embryos, heart progenitors remain at their anterior bilateral positions and fail to fuse at the midline to form a heart tube. However, on the C57BL/6J genetic background, cardiac development progresses further and results in a centrally-positioned looped heart. Linkage analysis led to the identification of a 1-Mbp interval on mouse Chromosome 4 containing 21 genes, including five that are differentially expressed between C57BL/6J and 129S4/SvJae. This strain may be helpful in studies of ..... | ||
| 002270 | B6.129S-Fn1tm1Hyn/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the Fn1tm1Hyn targeted mutation die during early embryonic development. Blastocyst development and implantation of homozygotes is normal. Gastrulation is initiated and appears normal, including extensive mesodermal movement. From embryonic day 8 onwards homozygous mutant embryos deteriorate through the 10th and 11th days of gestation. Homozygous mutant embryos have a shortened anterior-posterior axes, fail to develop a notochord or somites, and have abnormal development of the heart, blood vessels, and yolk sac indicating a general deficiency in mesodermally derived tissues. Heterozygous mice are viable for at least 2 years and appear healthy and approximately the same size as wild-type littermates. Plasma levels of fibronectin in heterozygotes are 50% lower than normal wildtype siblings. | ||
| 002463 | B6.129S-Itga4tm1Hyn/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the Itga4tm1Hyn targeted mutation die during embryonic development. Homozygous mutant embryos fail to fuse the allantois with the chorion during placentation. There is a defect in the epicardium and coronary vessels results in in utero cardiac hemorrhage; also known as CD49D, VLA-4. | ||
| 002274 | B6.129S-Itga5tm1Hyn/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the Itga5tm1Hyn targeted mutation die during embryonic development. Homozygous mutant embryos exhibit defects in the vasculature of the yolk sac and the embyro as well as severe defects in posterior and extraembryonic mesoderm. Implantation and initiation of gastrulation and neurulation is normal. There is normal development of notochord, somite and considerable development of brain, optic and otic anlagen and branchial arches. | ||
| 005960 | B6.129S-Pecam1Gt(OST16303)Lex/J | Cryopreserved - Ready for recovery |
| Mice that are homozygous for the gene-trapped allele are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. No gene product (protein) is detected by immunofluorescence in aorta endothelium from homozygotes, and endothelial nitric oxide synthase isoform (eNOS) is not detected in cell to cell junctions between aorta endothelial cells in these mice. Isolated skeletal muscle arterioles from homozygous mutant mice exhibit reduced vessel dilation and no significant change in wall shear stress responses when intraluminar flow is increased. This mutant mouse strain may be useful in studies of cellular adhesion, vascular integrity and physiology. | ||
| 005669 | B6.129S-Runx1tm1Spe/J | Cryopreserved - Ready for recovery |
| Heterozygous mice are viable, fertile, devoid of hemorrhagic lesions, and exhibit mild hematopoietic impairment. Mice that are homozygous for the targeted mutation have an embryonic lethal phenotype; animals are alive at embryonic day 11.5, but start dying at embryonic day 12.5. Embryos exhibit extensive hemorrhagic lesions in the central nervous system including the intraventricular regions and metencephalon as well as segmental bleeds at the VII-VIII cranial nerve complex, cervical, thoracic, and caudal regions. At embryonic day 10.5, symmetrical and bilateral necrosis preceding hemorrhage is observed in homozygotes. Homozygous disruption of the endogenous gene completely blocks definitive erythropoiesis, myelopoiesis, and lymphopoiesis. This mutant may be useful in leukemia studies as disruption of the human homolog of this gene is associated with many different leukemias. | ||
| 008217 | B6.129S1-Car4tm1Sly/J | Cryopreserved - Ready for recovery |
| Mice that are homozygous for this targeted mutation exhibit decreased sensitivity to an inhibitor of pH regulation (benzolamide) in the extracellular space in the hippocampus when compared to wildtype controls. No gene product (mRNA or protein) is detected by RT-PCR or Western blot analysis of brain, heart, kidney, liver, and muscle tissue. Exons 1b, 2, and 3, a portion of exon 4, which encode three active-site His residues, are disrupted and results in early termination in exon 4. Fewer than expected homozygotes are produced from heterozygote crosses (with even fewer female homozygotes produced). Surviving homozygotes from heterozygote crosses are fertile when crossed to wildtype mice, normal in size and do not display any gross physical or behavioral abnormalities. Homozygous crosses produce small litters and pups do not survive. This mutant mouse strain may be useful in neuronal physiology related studies, especially those involving pH shifts that accompany neuronal activity. ..... For more information please see the full phenotype on the strain data sheet | ||
| 012768 | B6.129S1-Gnai2tm1.1Rneu/J | Cryopreserved - Ready for recovery |
| A G184S point mutation was created in the Gnai2 (guanine nucleotide binding protein (G protein), alpha inhibiting 2; also called Gαi2) gene which disrupts interactions with regulator of G protein signaling (RGS) proteins that normally deactivate Gα G protein signals. A complex phenotype affecting multiple organ systems (heart, myeloid, skeletal, and central nervous system) can be observed. Homozygous mice and their cardiocytes exhibit enhanced muscarinic (M2) but not adenosine (A1) receptor-mediated responses. Isoproterenol-stimulated beating rates of heterozygous and homozygous hearts are significantly more sensitive to inhibition to carbachol than are those of wildtype mice.
Homozygous mice show slightly reduced adiposity. Unlike females, males placed on a high-fat diet are resistant to weight gain and have decreased body fat as compared to wildtype mice. Both males and females exhibit enhanced insulin sensitivity (protected f ..... | ||
| 008632 | B6.129S1-Kif5btm1.1Njen/J | Cryopreserved - Ready for recovery |
| Homozygous targeted mutant mice die early during embryonic developmnent (before 9.5 dpc). Heterozygotes are viable, may have reduced fertility, are normal in size, and do not display any gross physical or behavioral abnormalities. This mutant mouse strain may be useful in studies of intracellular transport in neurons and other cell types. | ||
| 006221 | B6.129S1-Lyve1tm1Lhua/J | Cryopreserved - Ready for recovery |
| Homozygotes are viable and fertile, and produce normal-sized litter. No gross phenotypic or behavioral abnormalities have been reported, even in older (2 year old) mice. Homozygous mutants express neither endogenous RNA or protein in liver tissue. Lymphatic capillary vessel morphology in the liver and intestines of homozygous mice is abnormal, with vessels having distended or rounded lumens in contrast to the smaller, typically collapsed, irregular shapes observed in wildtype controls. Intradermal interstitial-lymphatic flow also is increased. Syngenic tumor cell transplants into grow more rapidly and robustly in homozygous mutant mice compared with transplants into wildtype mice, and develop porous interstitial spaces. These mutant mice may be useful in studies of structural and functional characteristics of the lymphatic system, cell-surface retention sequence (CRS) motif-containing growth factor secretion, autocrine and paracrine regulation of cell growth, as well as of cancer and t ..... For more information please see the full phenotype on the strain data sheet | ||
| 002475 | B6.129S1-Myf6tm1Wb/J | Cryopreserved - Ready for recovery |
| 009387 | B6.129S1-Osr1tm1Jian/J | Cryopreserved - Ready for recovery |
| The Osr1tm1Jian (Odd1-LacZ) mutation abolishes endogenous gene function and expresses a β-galactosidase fusion protein (fused in-frame with the N-terminal 16 amino acid residues of the endogenous protein). Under control of the upstream promoter/enhancer elements, lacZ expression is directed to the same tissues as the wild-type gene (for example, β-galactosidase expression during embryogenesis is detected at E7.5 in the intermediate mesoderm, is expanded to the gut endoderm, lung bud mesenchyme and myocardial cells by E9.5, and is activated in developing branchial arches and limb buds by E10.5). Almost all (`95%) of homozygous mice die in utero between E11.5-E12.5 from circulation distress; exhibiting malformed atrial septum, dilated atria with hypoplastic venous valves, and blood backflow from the heart into systemic veins. Homozygotes also exhibit complete agenesis of adrenal glands, metanephric kidneys, gonads, and defects in pericard ..... For more information please see the full phenotype on the strain data sheet | ||
| 003821 | B6.129S1-Twist1Pde/J | Cryopreserved - Ready for recovery |
| 004581 | B6.129S1-Wnt3atm1Amc/J | Cryopreserved - Ready for recovery |
| Mice that are heterozygous for the targeted mutation are viable, fertile, normal in size and, with the exception of a kinked tail, do not display any gross physical or behavioral abnormalities. Homozygous null mice have an embryonic lethal phenotype, failing to develop past embryonic days 10.5 to 12.5 dpc. The gene targeting strategy introduced a stop codon in exon 3 to produce a shortened inactive gene product. No full-length wildtype gene product (protein) is detected by Southern blot analysis of homozygous embryos. By 9.5 dpc homozygous mutant embryos exhibit loss or disruption of posterior structures caudal to forelimb bud, including truncated trunk, kinked neural tube, lost or disrupted somites and lack of tailbud formation. | ||
| 003808 | B6.129S2(Cg)-Prltm1Hmn/J | Cryopreserved - Ready for recovery |
| Mice that are homozygous for the null Prl allele are viable, normal in size and do not display any gross physical or behavioral abnormalities. Homozygous null females have an irregular estrous cycle and are completely infertile. Homozygous null males and heterozygous females exhibit no fertility problems. The targeted insertion of a neomycin resistance gene into exon 4 results in a truncated Prl transcript that produces an 11 kDa prolactin protein that lacks any detectable bioactivity. Mammary gland development is marked by an absence of terminal or lateral lobulation. The disruption of the prolactin gene appears to have no effects on the hematopoietic system. | ||
| 002612 | B6.129S2-Bmp4tm1Blh/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the Bmp4tm1Blh targeted mutation mutation die early in embryogenesis. Fifteen to twenty percent of heterozygous mice show developmental defects including polydactyly, craniofacial defects, and cystic kidneys. Heterozygotes have also been reported to show eye abnormalities. | ||
| 004445 | B6.129S2-Creb1tm1Gsc/J | Cryopreserved - Ready for recovery |
| Mice that are homozygous for the targeted mutation are viable, normal in size and do not display any gross physical or behavioral abnormalities. In heterozygote crosses, the number of homozygous progeny born (15%) does not reach the expected Mendelian ratio indicating low survival of homozygous embryos. No gene product (mRNA or alpha and delta isoform proteins) is detected. The beta isoform gene product is up regulated. cAMP response element modulation protein expression is up regulated 2- to 3-fold. Although fear conditioning and Morris water maze testing demonstrate that homozygous mice have normal learning and short-term memory, long-term memory for cued and contextual conditioning is disrupted. Electrophysiological analysis of the hippocampus of mutant mice reveals abnormal long-term potentiation, which decays to baseline within 90 minutes, whereas wildtype controls display no decay. The long-term memory deficit exhibited by mutant mice can be overcome by additional spaced (10-60 m ..... For more information please see the full phenotype on the strain data sheet | ||
| 003114 | B6.129S2-Crhtm1Maj/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the Crhtm1Maj targeted mutation are viable and fertile. Pups born to homozygous mothers must be supplemented with corticosterone in the drinking water from day 12 of gestation until weaning. Homozygous mice have reduced adrenocortical secretion following stress. They may be susceptible to complications from hypoglycemia when fasting. Heterozygous mice are phenotypically indistinguishable from normal wildtype siblings. | ||
| 003343 | B6.129S2-En1tm1Alj/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the En1tm1Alj targeted mutation die shortly after birth. They are missing the third and fourth cranial nerves as well as most of the colliculi and cerebellum. The brain phenotype can be less severe depending on the genetic background. There is also a disruption of the dorsal/ventral patterning of the limb paws, a disrupted sterum, and truncation of the 13th ribs. Deletion of mid-hindbrain tissue may be seen as early as embryonic day 9.5. | ||
| 004078 | B6.129S2-F5tm1Dgi/J | Cryopreserved - Ready for recovery |
| Approximately half of the mice that are homozygous null for the F5 gene die at embryonic day 9-10. Those that develop beyond this stage continue to develop but suffer from massive intra-abdominal hemorrhages and die within two hours of birth. Also observed are microscopic hemorrhages in a variety of tissues. Blood present in the intra-abdominal cavity is unclotted and completely deficient of factor V activity. | ||
| 007240 | B6.129S2-Irs1smla/J | Cryopreserved - Ready for recovery |
| These mice carry a spontaneous nonsense mutation in serine 57 of the Irs1 (insulin receptor substrate 1) gene that, in the homozygous state, produces small mice. Only a fraction of smla homozygotes survive to weaning and breeding age with significant losses beginning at postnatal day 21. Repeated backcrosses to C57BL/6J contributed to marked increases in lethality. Postmortem examination identified no significant gross or microscopic abnormalities aside from proportionally decreased stature and muscle wasting in a subset of mice. Western blot analysis of quadriceps muscle tissue demonstrates no detectable protein in mice homozygous for the mutation. | ||
| 003865 | B6.129S2-Itgavtm1Hyn/J | Cryopreserved - Ready for recovery |
| The majority (80%) of homozygous null Itgav mice die during embryonic days 9.5-11.5. These mice are characterized by pericardial edema and retarded growth probably due to placental defects. Mice surviving this period die at birth exhibiting intracranial and intestinal hemorrhaging. Angiogenesis in other tissues is normal. Cleft palate is also observed. | ||
| 008698 | B6.129S2-Itgb3tm1Hyn/J | Cryopreserved - Ready for recovery |
| Mice that are homozygous for this targeted allele are viable and fertile. No gene product (protein) is detected on the surface of platelets. Significant (50%) embryonic lethality attributed to fetal hemorrhaging and placental defects is observed. Until three weeks of age, additional pup loss may occur due to hemorrhaging in the skin and gastrointestinal tract. Gastrointestinal tract bleeding is commonly observed in adults and is frequently associated with an enlarged spleen. Erythrocyte number, hemoglobin, hematocrits and thrombus formation are all reduced while bleeding time is prolonged. Varying degrees of liver and kidney necrosis are also observed. Although increased numbers of osteoclasts are observed (3.5 fold over that seen in heterozygotes) they appear to be dysfunctional, having a reduced ability to resorb whale dentin in vitro. Mice are osteosclerotic and hypocalcemic. Enhanced tumor angiogenesis and vascular endothelial growth factor-induced blood vessel growth are observed. ..... For more information please see the full phenotype on the strain data sheet | ||
| 004372 | B6.129S2-Mad2l1tm1Sorg/J | Cryopreserved - Ready for recovery |
| Mice that are heterozygous for the Mad2l1tm1Sorg targeted allele are viable, fertile, normal in size, and do not display any gross physical or behavioral abnormalities. Homozygous null mice are embryonic lethal; they fail to develop past embryonic days 6-7 due to catastrophic chromosome missegregation and apoptosis. Histological analysis of heterozygous mutant mice reveal increased germinal center formation in spleen and a higher incidence of lung carcinomas when compared to the wildtype. This mutant mouse strain represents a model that may be useful in studies of the role cell-division checkpoints in tumorogenesis. | ||
| 002645 | B6.129S2-Mgat1tm1Jxm/J | Cryopreserved - Ready for recovery |
| Mice homozygous for this mutation die at about embryonic day 9. Heterozygous mice develop normally. Homozyous mice may be used to study complex Asn-linked oligosaccharide structures and their role in development. Systems and cell types which are affected by this mutation include the vasculature, the neural folds, and cells involved in left-right asymmetry. | ||
| 004757 | B6.129S2-Mybtm1Ssp/J | Cryopreserved - Ready for recovery |
| Homozygous null mice have an embryonic lethal phenotype, failing to develop past embryonic days 15.5. At embryonic day 13, homozygotes are normal in size and morphology, but have 10 fold lower hematocrit levels, due to anemia caused by diminished fetal hepatic erthropoiesis. In vitro examination of cells from the para-aortic, splanchnopleural (P-Sp) and aorta-gonad-mesonephros regions reveals defective hematopoiesis. Mice that are heterozygous for the targeted mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. This mutant mouse strain may be useful in studies of fetal definitive hematopoiesis. | ||
| 008192 | B6.129S2-Nf1tm1Tyj/J | Cryopreserved - Ready for recovery |
| Heterozygous animals do not exhibit the classical symptoms of Human neurofibromatosis type 1, but are highly predisposed to the formation of various tumor types, notably phaeochromocytoma, a tumor of the neural crest-derived adrenal medulla, and myeloid leukemia. Homozygosity leads to abnormal cardiac development and mid-gestational embryonic lethality. This strain may be useful in studies of cancer and developmental biology. | ||
| 002102 | B6.129S2-Rb1tm1Tyj/J | Cryopreserved - Ready for recovery |
| Mice homozygous for this targeted mutation die in utero, apparently from a failure to produce erythrocytes in the liver, demonstrating that the endogenous gene is essential for normal development. Heterozygous mice, which are analogous to human carrier individuals, do not develop retinal tumors, but do develop pituitary tumors by 8 months of age. In an attempt to offer alleles on well-characterized or multiple genetic backgrounds, alleles are frequently moved to a genetic background different from that on which an allele was first characterized. This is the case for this strain. It should be noted that the phenotype could vary from that originally described. We will modify the strain description if necessary as published results become available. | ||
| 008439 | B6.129S2-Seletm1Hyn Selltm1Hyn Selptm1Hyn/J | Cryopreserved - Ready for recovery |
| Mice that are homozygous null for the Sele, Sell and Selp genes are viable, fertile, normal in size, and do not display any gross physical or behavioral abnormalities at birth. As mice mature, however, they become susceptible to mucocutaneous infections that eventually lead to death. No Sele, Sell or Selp gene products (mRNA or protein) are detected. Leukocytes from these mice exhibit a deficiency in the ability to interact with, and roll along, the venular wall endothelium. This deficiency in the crucial first step of leukocyte recruitment to surrounding tissues in response to infection or injury contributes to an elevated leukocyte count in the peripheral blood. Delays in neutrophil and eosinophil recruitment to the peritoneum in response to thioglycollate and ragweed allergen, respectively, have been observed, specifically. These mice are suitable for use in research applications studying leukocyte homeostasis, infectious diseases and inflam ..... For more information please see the full phenotype on the strain data sheet | ||
| 008437 | B6.129S2-Seletm1Hyn Selptm1Hyn/J | Cryopreserved - Ready for recovery |
| Mice homozygous for both the Seletm1Hyn Selptm1Hyn mutations are viable and fertile. They are characterized by leukocytosis, spontaneous bacterial infections, dermatitis and defective leukocyte recruitment in many models of inflammation. In an attempt to offer alleles on well-characterized or multiple genetic backgrounds, alleles are frequently moved to a genetic background different from that on which an allele was first characterized. This is the case for the strain above. It should be noted that the phenotype could vary from that originally described. We will modify the strain description if necessary as published results become available. | ||
| 008434 | B6.129S2-Seletm2Hyn/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the Seletm2Hyn targeted mutation are viable and fertile. Homozygous mutant mice show only subtle defects in leukocyte recruitment, unless P-selectin (Selp) is also ablated or blocked with antibody. In an attempt to offer alleles on well-characterized or multiple genetic backgrounds, alleles are frequently moved to a genetic background different from that on which an allele was first characterized. This is the case for the strain above. It should be noted that the phenotype could vary from that originally described. We will modify the strain description if necessary as published results become available. | ||
| 002771 | B6.129S2-Tlx1tm1Sjk/J | Cryopreserved - Ready for recovery |
| 010572 | B6.129S2-Tnfsf13btm1Msc/J | Cryopreserved - Ready for recovery |
| Homozygous (BAFF-/- or BAFF KO) mice are viable and fertile. The BAFF knockout mutation has a tailless human CD2 reporter gene inserted into the Tnfsf13b (BAFF) locus that abolishes endogenous BAFF expression. Homozygous mice exhibit abnormal B cell development and function, resulting from significant loss of mature B cell (B220+) populations in lymph nodes, peripheral blood and bone marrow, as well as attenuated antibody responses to both T cell-dependent and T cell-independent type II antigens. Homozygous also have splenic deficiencies (mass, marginal zone B cells and follicular B cells), and decreased total serum immunoglobulin in each subclass (with the exception of immunoglobulin A [IgA] which was only moderately reduced). No loss of marrow pre-B cells, marrow pro-B cells, or CD3+ T cells are reported with BAFF-deficiency. Heterozygous mice have moderately reduced serum IgG subclasses and IgM. These BAFF-mutant mice may be useful in studyin ..... For more information please see the full phenotype on the strain data sheet | ||
| 009105 | B6.129S4-Asgr1tm1Sau/SaubJxmJ | Cryopreserved - Ready for recovery |
| These mice harbor a targeted mutation of the asialoglycoprotein receptor 1 (Asgr1; also known as hepatic lectin-1 [HL-1]) locus that abolishes endogenous gene expression. Homozygous mice (Asgr1-/- mice) are viable and fertile, with no plasma asialoglycoprotein or platelet level abnormalities. Asgr1-/- mice have impaired hepatic clearance of asialoglycoproteins (exogenous desialylated glycoproteins). Homozygous mice also exhibit altered von Willebrand factor (vWF) levels (increased plasma vWF and reduced hepatocyte-associated vWF). Asgr1-deficiency is associated with reduced bleeding time and enhanced platelet survival. When injected with Streptococcus pneumoniae, homozygous mice have increased susceptibility to infection and mortality (severe intravascular coagulation due to impaired clearance of prothrombotic components: platelets and vWF desialylated by the bacterium's neuraminidase are not eliminated from circulation). These Asgr1 mutant mice may be useful in st ..... For more information please see the full phenotype on the strain data sheet | ||
| 003643 | B6.129S4-C4btm1Crr/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the C4 (complement component C4) targeted mutation are viable and fertile. Homozygous mutants exhibit an increased susceptibility to lethal infection by Group B streptococci(GBS). C4 homozygous mutants show a similar susceptibility to GBS lethal infection as do C3 null mice, suggesting that the classical, and not alternative, pathway is primarily involved in antibody-independent humoral immunity to GBS. Homozygotes also demonstrate a profound defect in antibody response to T cell dependent antigens. They show a diminished level of peanut agglutin+ germinal centers and a failure in isotype switching despite normal B cell signalling in vitro. | ||
| 003596 | B6.129S4-Cdk5tm1Kul/J | Cryopreserved - Ready for recovery |
| Cdk5 is an important molecule for brain development and neuronal differentiation. Cdk null mice exhibit unique lesions in the central nervous system associated with perinatal mortality. The brains of mutant mice lack cortical laminar structure and cerebellar foliation. The large neurons in the brain stem and in the spinal cord show chromatolytic changes with accumulation of neurofilament immunoreactivity. They also exhibit neuronal migration abnormalities, cerebellar defoliation, NF accumulation neuronal bodies, and degenerated motor neurons. In an attempt to offer alleles on well-characterized or multiple genetic backgrounds, alleles are frequently moved to a genetic background different from that on which an allele was first characterized. This is the case for the strain above. It should be noted that the phenotype could vary from that originally described. We will modify the strain description if necessary as published results become available. | ||
| 010923 | B6.129S4-Csnk1dtm1.1Drw/J | Cryopreserved - Ready for recovery |
| Mice that are heterozygous for the targeted mutation are viable, fertile, normal in size and do not display any gross physical abnormalities. Homozygotes die during late gestation and perinatally, with no homozygotes at weaning age. Homozygous embryos are smaller (approximately 30% less than control weight) than wild-type controls at embryonic day 18-19. A truncated non-functional gene product (protein), lacking residues 26 to 62, is detected by Western blot analysis and cotransfection assays of homozygotes. The truncated protein does not phosphorylate or degrade PER1, period homolog 1 (Drosophila), and PER2, period homolog 2 (Drosophila), proteins. After being kept in constant darkness for 10 days, heterozygotes exhibit a longer free-running period than wild-type controls. | ||
| 003824 | B6.129S4-Dgat1tm1Far/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the Dgat1tm1Far targeted mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities however, homozygous mutant females exhibit a complete absence of milk production, necessitating the use of foster mothers. Dgat1 mRNA is undetectable by Northern blot analysis, and DGAT enzyme activity in a variety of tissues is either absent or shows only residual levels. Surprisingly, in DGAT deficient mice triglyceride levels and fasting serum triglycerides levels are similar to wildtype controls. Although homozygotes do not differ in body weight compared to age- and sex-matched controls, total fat pad weight is reduced. Tissue triglyceride levels are reduced 30-40% in white adipose tissue and muscle. Liver triglyceride levels tend to be lower in chow-fed DGAT-deficient mice, but high-fat feeding leads to significantly lower liver triglycerides. Changes in tissue triglyceride levels are associated with in ..... For more information please see the full phenotype on the strain data sheet | ||
| 002198 | B6.129S4-Dnmt1tm1Jae/J | Cryopreserved - Ready for recovery |
| Mice homozygous for this mutation die at mid gestation. The embryos are stunted and show a delayed development. DNA from these mice shows a reduction in the level of m5C to about 1/3 that seen in cells from normal wildtype siblings. | ||
| 004067 | B6.129S4-Ep300tm1Dli/J | Cryopreserved - Ready for recovery |
| Mice that are homozygous null for the Ep300 gene are embryonic lethal, dying between embryonic days 9 and 11.5 exhibiting defects in neurulation, cell proliferation and heart development. Isolated embryonic fibroblasts display a proliferation defect, growing much slower and for fewer generations than embryonic fibroblasts derived from wild type embryos. Mice heterozygous for the null allele also exhibit a degree of embryonic lethality, a trait apparently influenced by genetic background. The highest lethality in heterozygotes is observed on a 129 background, with considerably less seen on a mixed B6;129 background and none on an incipient congenic C57BL/6 background. | ||
| 002862 | B6.129S4-F2rtm1Ajc/J | Cryopreserved - Ready for recovery |
| About half of the homozygous mice die at around embryonic day 9-10. The surviving homozygotes are fertile. Platelets from surviving homozygotes respond to thrombin while fibroblasts from the same mice are unable to respond to thrombin. | ||
| 007671 | B6.129S4-Fgfr1tm5.1Sor/J | Cryopreserved - Ready for recovery |
| These mice possess loxP sites on either side of exon 4 of the targeted gene. Exon 4 is the first exon found in all reported Fgfr1 splice variants. Mice that are homozygous for this allele are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. When these mutant mice are bred to mice that express Cre recombinase, resulting offspring will have exon 4 and the neomycin selection cassette deleted in the cre-expressing tissue(s). This mutant mouse strain may be useful in studies of fibroblast growth factor (Fgf) cellular signaling during embryonic development. | ||
| 003539 | B6.129S4-Hgstm1Sor/J | Cryopreserved - Ready for recovery |
| Hgs homozygous mutant embryos develop with their ventral region outside of the yolk sac, have two independent bilateral heart tubes (cardia bifida), lack a foregut, and die around embryonic day 11 (E11.0). These phenotypes arise from a defect in ventral folding morphogenesis that occurs normally around E8.0. Significant apoptosis is detected in the ventral region of mutant embryos within the definitive endoderm, suggesting an important role for this germ layer in ventral folding morphogenesis. Abnormally enlarged early endosomes are detected in the mutants in several tissues including definitive endoderm, suggesting that a deficiency in vesicular transport via early endosomes underlies the mutant phenotype. The vesicular localization of Hgs is disrupted in cells treated with wortmannin, implicating Hgs in the phosphatidylinositol 3-kinase pathway of membrane trafficking. | ||
| 002442 | B6.129S4-Inhbbtm1Jae/J | Cryopreserved - Ready for recovery |
| Homozygous mice are deficient in activin B (betaB:betaB), activin AB (betaA:betaB) and inhibin B (alpha:betaB). Heterozygotes appear normal. Homozygous mutants complete embryonic development and are viable. They are born, however, with open eyes which leads to the development of eye lesions. Homozygous males breed normally but mutant females exhibit a profoundly impaired reproductive ability, characterized by perinatal lethality of their offspring. Mutant females have an increased gestation time and decreased nursing ability that may be the result of impaired milk let-down. There is an upregulation of beta-A activin which may contribute to the phenotype. | ||
| 006198 | B6.129S4-Matktm1Sor/J | Cryopreserved - Ready for recovery |
| Homozygotes are viable and fertile with no behavioral abnormalities. The donating investigator reports homozygous mutants have no endogenous protein expression. Homozygous mice have an approximately 2-fold increase in the primitive hematopoietic stem cell population SPKLS (c-Kit+, Lin-, Sca-1+ in combination with side population cells). Homozygous deficiency also leads to the hyperproliferation of pre-B cells in the presence of Interleukin-7, and impaired IFN-gamma production in lymph and spleen cells upon in vivo antigen challenge. These mutant mice may be useful in studying tyrosine phosphorylation of hematopoietic cells, primitive/early hematopoietic populations, immune cell signaling, and regulation of immunological responses. | ||
| 002275 | B6.129S4-Ntf3tm1Jae/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the Ntf3tm1Jae targeted mutation are smaller than their normal littermates and most die shortly after birth. Survivors die prior to weaning. They display limb ataxia, an inability to position the limbs properly when attempting to move, and there is a tendency for all four limbs to intermittently stiffen in an extensor posture. Autopsy showed all peripheral ganglia markedly smaller in the mutant. Spinal proprioceptive afferents and their peripheral sense organs are completely absent. Heterozygous mice appear normal; however, the number of muscle spindles in heterozygotes is half that of normal wildtype siblings. There is approximately a 50% reduction in the sympathetic superior cervical ganglion (SCG) neurons caused by excessive apoptosis of sympathetic neuroblasts during neurogenesis. | ||
| 003541 | B6.129S4-Ntf3tm2Jae/J | Cryopreserved - Ready for recovery |
| This strain has loxP sites located on either side of the Ntf3 exon 2. Mice homozygous for this allele are viable, fertile and without behavioral abnormalities. If this strain is crossed with a transgenic strain bearing Cre recombinase, expression of the Ntf3 gene in offspring can be blocked in a tissue-specific manner depending on the promoter controlling the recombinase. Strains under the control of the rat nestin promoter block expression in the central nervous system; see strains 002275 and 002276.
When bred to a strain expressing Cre recombinase in skeletal muscle (see Stock No. 007893 for example), this mutant mouse strain may be useful in studies of muscle spindle development | ||
| 005901 | B6.129S4-Ppardtm2Rev/J | Cryopreserved - Ready for recovery |
| Heterozygous mice are viable and fertile. All homozygous mice die in utero. Macrophages homozygous for this mutation have no transcriptional response to very low-density lipoprotein treatment. No evaluation of lacZ expression is published. The donating investigator reports homozygous mice on this background have a similar, albeit earlier, embryonic phenotype as the exon 4 deleted mutants described in other publications (Barak PNAS 2002 99:303-8, Chawla PNAS 2003 100:1268-73, and Lee Science 2003 302:453-7). Heterozygous mice or homozygous embryo-derived cells may be useful in studies of embryo development, adipocyte physiology, fat metabolism and storage, inflammation, and cancer. | ||
| 006142 | B6.129S4-Ppargtm1Rev/J | Cryopreserved - Ready for recovery |
| All mice homozygous for this targeted mutation die after gestational day 9.5 from severe placental defects and myocardial thinning. Heterozygotes are viable and fertile. White adipose tissue from heterozygous mice display approximately half the mRNA expression compared to wildtype. Tracer-determined glucose disposal rates and hepatic glucose production show that peripheral tissues and livers from heterozygotes are more sensitive to the effects of insulin than wildtype. This mutation eliminates both DNA-binding and ligand-binding functions of the endogenous gene, concomitantly generating a lacZ reporter that faithfully recapitulates the endogenous expression pattern. Heterozygous mice or homozygous embryo-derived cells may be useful in studies of embryo and placental development, diabetes, atherosclerosis, inflammation, and for beta-galactosidase reporter function of the endogenous gene. | ||
| 008227 | B6.129S4-Ppargtm3Yba/J | Cryopreserved - Ready for recovery |
| These mice express tTA (tetracycline regulated transactivator) from the endogenous Pparg locus. A fusion transcript (including the 5' portion of Pparg, IRES and tTA (AF1-IRES-tTA)) and a wild-type Pparg transcript are detected by Northem blot analysis of epididymal fat pads from heterozygotes. Mice that are heterozygous for this targeted mutation exhibit a similar but milder phenotype than that observed in Pparg-Ldi mice (129-Ppargtm2Yba/J, Stock No. 008079). Heterozygotes exhibit mild lipodystrophy with pale, unilocular brown adipocytes, hypertrophy of brown fat, reduced subcutaneous fat, gonadal fat pads smaller than wild-type and mild hepatomegaly. Mutant mice develop insulin resistance and dyslipidemia. Treatment with doxycycline prevents this phenotype. Mice that are homozygous for the targeted mutation are not viable. This mutant mouse strain may be useful in studies of lipodystrophy. | ||
| 003754 | B6.129S4-Shroom3Gt(ROSA53)Sor/J | Cryopreserved - Ready for recovery |
| Mice that are homozygous for this mutation survive to term or die very shortly after birth. The gene trap insertion appears to have occurred between the translational start sites of the long and short forms in the 5' portion of the endogenous gene. No gene product (protein or mRNA) is detected in homozygous embryos. Mutant embryos can be distinguished by E9.25 as the lateral edges of the cranial neural folds exhibit a wavy appearance and fail to converge at the dorsal midline. As the embryo develops, the neural folds continue to enlarge and develop away from the dorsal midline, presenting a mushroom-like appearance. By day E14.5, failed neural tube closure results in exencephaly, acrania, and facial clefting. Some mutants exhibit defects in ventral closure resulting in herniation of the intestine and liver. Not all aspects of the phenotype are fully penetrant. Hemizygous mice express a B-galactosidase under the control of the endogenous promoter, with expression variously observed ..... For more information please see the full phenotype on the strain data sheet | ||
| 007609 | B6.129S4-StrapGt(ROSA)71Sor/J | Cryopreserved - Ready for recovery |
| Mice homozygous for this mutant allele have reduced size and weight gains after birth and do not survive past 8 weeks of age. Homozygotes have an embryonic lethal phenotype, dying between E10.5 and E12.5. No gene product is detected in primary fibroblasts isolated from homozygous embryos (E9.5) by RT-PCR. Homozygous embryos have underdeveloped vasculature of the yolk sac, abnormal heart and somite development, and arrested neural tube closure and embryonic turning. Heterozygotes are viable and fertile. These Strap-mutant mice may be useful in studying cellular signaling in development and adult mice; specifically receptor tyrosine kinases (RTK; such as Ras, MAP kinase, PI3K and those in the platelet-derived growth factor (PDGF) family) and immediate early genes (IEG) induced shortly after RTK activation. | ||
| 002948 | B6.129S4-Tal1tm1Sho/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the Tal1tm1Sho mutation die between embryonic day 9.5 and 10.5. There is a complete absence of blood formation; no hematopoietic cells could be identified by appearance, histology, colony assays, or RT-PCR for lineage-specific products. | ||
| 008120 | B6.129S4-Timp2tm1Pds/J | Cryopreserved - Ready for recovery |
| Mice that are homozygous for the targeted mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. No gene product (mRNA) is detected by Northern blot analysis of lung tissue. Mutant mice are unable to proteolytically activate proMMP-2, proenzyme matrix metalloproteinase-2. Male homozygotes exhibit deficits in fear-potentiated startle respnses and both male and female mutants exhibit reduced prepulse inhibition. Homozygotes exhibit muscle weakness (due to reduced mass of extensor digitorum longus fast-twitch muscle), decreased motor function, abnormal gait and reduced hindlimb extension. The brains of homozygotes in the postnatal week are smaller in size than wildtype controls, with the size difference disappearing after postnatal day 7. Histological analysis reveals abnormal neuromuscular junctions characterized by a larger size with increased nerve branching, reduced cerebellar cortex thickness, and reduced Purkinje cell pr ..... For more information please see the full phenotype on the strain data sheet | ||
| 003823 | B6.129S4-Ttpatm1Far/J | Cryopreserved - Ready for recovery |
| Mice that are homozygous null for the Ttpa gene are viable, normal in size and do not display any gross physical abnormalities. The Ttpa protein product is required for the maintenance of proper alpha-tocopherol levels, the major form of vitamin E in plasma and tissues. The absence of Ttpa protein product in homozygous-null animals results in a corresponding 95% reduction in alpha-tocopherol. Low levels of alpha-tocopherol render female mice infertile, a condition that can be addressed with vitamin E supplements. Male fertility is unimpaired. These mice provide a viable model for studying vitamin E deficiency. | ||
| 009640 | B6.129S4-Viptm1Clw/J | Cryopreserved - Ready for recovery |
| Mice that are heterozygous for the targeted mutation are viable and fertile. No gene product (protein) is detected by immunohistochemical analysis of homozygotes. Homozygous females are subfertile, 15-20% of homozygous females can have litters. Homozygotes exhibit impaired circadian rhythm generation, muscle weakness, increased motor activity and increased induced airway hyperresponsiveness and inflammation. In constant darkness, homozygotes initially display shortened circadian period. Some homozygotes develop arrhythmic circadian periods after extended darkness. Heterozygotes also display abnormal circadian rhythm. Homozygotes have both gross and microscopic anatomical abnormalities of the gastrointestinal tract. 10-15% of homozygotes die of stenosis of the gut before one year of age. Male homozygotes exhibit moderate right ventricular (RV) hypertension, RV hypertrophy, thickened and remodeled pulmonary arteries, perivascular inflammation of smaller pulmonary vessels and airways, red ..... For more information please see the full phenotype on the strain data sheet | ||
| 002719 | B6.129S4-Wt1tm1Jae/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the Wt1tm1Jae targeted mutation die between embryonic days 13 and 15. They fail to develop a kidney or gonads. The hearts of homozygous mutant mice also fail to develop properly. Hearts are smaller than wildtype controls and possess a rounded apex. The right ventricular wall is thin and the left ventricle is reduced in size. There appears to be normal development of the aortic, pulmonary, mitral and tricuspid valves. Development of the diaphragm is also incomplete resulting in incomplete separation of the thoracic and abdominal cavities. Homozygous mutant lungs are also markedly smaller than wild type lungs. Heterozygous mice appear normal and show no tumor development (mice followed until 10 months of age). | ||
| 004038 | B6.129S4-Zp3tm1Dean/J | Cryopreserved - Ready for recovery |
| Mice that are homozygous null for the Zp3 gene are viable, normal in size and do not display any gross physical or behavioral abnormalities. No Zp3 gene product (mRNA or protein) is detected. Homozygous females are not fertile; they lack a zona pellucida and exhibit a disorganized corona radiata. Heterozygous females are fertile. Homozygous males appear normal in all respects and are fertile. | ||
| 013189 | B6.129S5-Mlst8tm1Lex/J | Cryopreserved - Ready for recovery |
| In this strain, the allele replaces exons 2-8 of the mTOR (Mechanistic target of rapamycin) associated protein (LST8 homolog), Mlst8, gene with an internal ribosome entry site (IRES)-lacZ (β-galactosidase), and a neomycin resistance (neo) cassette, abolishing gene function. Heterozygous mice are viable, fertile, and normal in size, while homozygous mice die by e10.5. mLST8 forms the complex mTORC1 with mTOR and Rptor (regulatory associated protein of mTOR, complex 1), which is critical for the growth of the inner cell mass and trophoblast cell outgrowth during early embryonic development. mLST8 also forms the complex mTORC2 with mTOR and Rictor (Rptor independent companion of mTOR, complex 2), which is critical for midgestational embryonic development. Mlst8-/- embryos exhibit underdeveloped telencephalic and vitelline vesicles, defective yolk sac vasculature, internal hemorrhaging, and dilated blood vessels, particularly in the head. Although ..... For more information please see the full phenotype on the strain data sheet | ||
| 013191 | B6.129S5-Rptortm1Lex/J | Cryopreserved - Ready for recovery |
| In this strain, the allele replaces alternate exon 1 and common exon 2 of the regulatory associated protein of mTOR (Mechanistic target of rapamycin), complex 1 (Rptor) gene with an internal ribosome entry site (IRES)-lacZ(β-galactosidase), and a neomycin resistance (neo) cassette, abolishing gene function. Heterozygous mice are viable, fertile, and normal in size, while homozygous mice die by e6.5. Raptor forms the complex mTORC1 with mLST8 (mTOR associated Protein, LST8 homolog) and mTOR, which is critical for the growth of the inner cell mass and trophoblast cell outgrowth during early embryonic development. When Raptor-/- blastocysts are implanted, 25% can implant but all fail to expand and differentiate. In culture, by day 4 the cells of the blastocysts stop growing and by day 7 the cells are detached and dying. β-gal staining is evident in embryonic cells expressing Raptor. These mice may be useful for studying raptor-mTOR complex signaling ..... For more information please see the full phenotype on the strain data sheet | ||
| 006447 | B6.129S6(CBA)-Cebpatm1Dgt/J | Cryopreserved - Ready for recovery |
| Mice carrying this C/EBPalpha "floxed" allele (C/EBPalphaF) are viable and fertile. The floxed allele functions similarly to the wildtype allele. In mice homozygous for C/EBPalphaF and expressing an interferon-inducible Cre recombinase (introduced by breeding to a cre-expressing strain; see Stock No. 003556), C/EBPalpha activity is disrupted, leading to defective myeloid cell development, increased hematopoietic stem cell repopulating activity, and significantly increased myeloblast population in the bone marrow compartment. In combination with an appropriate Cre transgenic strain, these mutant mice may be useful in studies of hematopoietic cell (e.g. myeloid and basophil progenitor cell) development and function, cancer (e.g. acute myeloid leukemia), and alveolar cell differentiation. | ||
| 007858 | B6.129S6(Cg)-Ahsptm1.1Mjwe/J | Cryopreserved - Ready for recovery |
| Mice homozygous for this targeted allele (AHSP-/- or ERAF-/-) are fertile with normal lifespans up to at least 18 months of age. No RNA or protein from the targeted gene is detected in hematopoietic tissues from homozygotes. AHSP-/- mice exhibit abnormal erythrocyte morphology with intracellular inclusion bodies that stain positively for denatured hemoglobin (Heinz bodies). Homozygous mice also have reduced lifespan of circulating red blood cells, increased apoptosis of erythroid precursors, and increased production of reactive oxygen species (ROS) with consequent damage to hemoglobin A and other cellular components. As the α-hemoglobin stabilizing protein specifically binds the cytotoxic free α-Hb subunit of hemoglobin A, these AHSP-mutant mice may be useful in studying erythroid development/erythropoiesis, thalassemia, Heinz body hemolytic anemia, and other hemoglobinopathies.
In an attempt to offer alleles on well-characterized or ..... | ||
| 013245 | B6.129S6(Cg)-Npsr1tm1Bhk/J | Cryopreserved - Ready for recovery |
| In this strain, exon 4 of the endogenous neuropeptide S receptor 1 (Npsr1 or GPRA) gene is replaced with a neo cassette, abolishing ligand binding function. Homozygous (GPRA-/-) mice are viable, fertile, normal in size, and do not display any gross physical or behavioral abnormalities. GPRA-/- mice on a 129/SvEv genetic background show an attenuated response when challenged with the cholinergic receptor-dependent bronchoconstricting agent thromboxane. These GPRA mutant mice may be useful for studying the induction of asthma-like disease, smooth muscle constriction, and airway function.
In an attempt to offer alleles on well-characterized or multiple genetic backgrounds, alleles are frequently moved to a genetic background different from that on which an allele was first characterized. It should be noted that the phenotype could vary from that originally described. We will modify the strain description if necessary as published results become avai ..... | ||
| 009671 | B6.129S6(FVB)-Egln1tm1.1Kael/J | Cryopreserved - Ready for recovery |
| Homozygous targeted mutation mice are embryonic lethal at approximately E12.5 due to placental and/or cardiac malformation. No mRNA or protein are detectable in mouse embryonic fibroblasts (MEFs) derived from homozyous mice. This strain may be useful in studies of development. | ||
| 006236 | B6.129S6-Casp6tm1Flv/J | Cryopreserved - Ready for recovery |
| Homozygous mice are viable and fertile with no gross morphological or behavioral abnormalities. These mutant mice may be useful in studies of mitochondrial events of apoptosis (especially when paired with other executioner caspase mutant models) and lens development. | ||
| 009057 | B6.129S6-Cc2d1atm1Zjc/J | Cryopreserved - Ready for recovery |
| Homozygous mutant mice are born at predicted Mendelian ratios but die soon after birth from an inability to breathe. No protein is detected by Western blot of embryonic fibroblast cells. No mRNA is detected by in situ hybridization. Homozygotes display no physical abnormalities, based on hematoxylin and eosin (H&E) staining. Defects in brain function may explain the phenotype. | ||
| 003742 | B6.129S6-Cdh6tm1Sma/J | Cryopreserved - Ready for recovery |
| The Cdh6 gene product is a transmembrane protein that is expressed during the earliest stages of nephrogenesis. Mice that are homozygous-null for this gene are viable and fertile with no detectable gene Cdh6 product. They possess only two-thirds the normal number of formed, fully functioning nephrons seen in adult wildtype mice. This diminished number of nephrons is thought to result from delayed epithelialization in the developing kidneys. | ||
| 004069 | B6.129S6-Crebbptm1Dli/J | Cryopreserved - Ready for recovery |
| Mice that are homozygous null for the Crebbp gene are embryonic lethal, dying at about embryonic day 10.5 exhibiting open neural tube defects. Heterozygous mice though viable and fertile, are subject to early growth retardation, craniofacial abnormalities and often fail to thrive. Heterozygous mice are also subject to age-dependent splenomegaly and irregular hematopoiesis. By three months of age, the abundance of all hematopoietic cell types is significantly diminished. Older mice (10-21 months) are more prone to develop hematologic malignancies than wildtype mice. | ||
| 004267 | B6.129S6-Dnmt3ltm1Bes/J | Cryopreserved - Ready for recovery |
| Mice that are homozygous for this targeted allele are viable, normal in size, do not display any gross physical or behavioral abnormalities, but are sterile. Adult homozygous males display severe hypogonadism, Sertoli-cell-only phenotype and apoptotic death of spermatocytes prior to pachytene with loss of spermatogonia progressing to nonsyndromic azoospermia in later adulthood. Extreme abnormalities of meitotic pairing occur. There is a failure to methylate transposons in prospermatogonia with expression of very high levels of both LTR and non-LTR transposons in spermatogonia and spermatocytes. Homozygous females have normal oogenesis. Heterozygous progeny of homozygous females do not develop past 9.5 day post coitum, with pericardial edema with exencephaly and other neural tube defects. Maternally imprinted gene sequence that is usually heavily methylated in control oocytes is undermethylated in mutant mice oocytes. Paternally imprinted gene sequence is not effected and global genome ..... For more information please see the full phenotype on the strain data sheet | ||
| 005862 | B6.129S6-Esam1tm1Tq/J | Cryopreserved - Ready for recovery |
| Homozygous mice are viable with no histologically observable abnormalities. Homozygotes do not express the targeted gene in lung, kidney, heart, aorta, liver, skin, and eye. Homozygous mice have a 15% decrease in body weight compared to wild type. Endothelial cells derived from wild type mice form tube-shaped primitive blood vessels structures. Cultured aortic endothelial cells from homozygote mutants display an attenuated ability to form tubes, suggesting diminished angiogenic potential. Cultured cells from mutant mice also exhibit a decreased migratory response to basic fibroblast growth factor in vitro. Following injection with melanoma and Lewis lung carcinoma cells, homozygous mice show retarded tumor growth correlated with decreased angiogenesis. This mouse may be useful in studies of cellular adhesion, vascular integrity, and angiogenesis, as well as pathologic blood vessel assembly. | ||
| 007666 | B6.129S6-Jmjd6tm1Flv/J | Cryopreserved - Ready for recovery |
| Homozygotes are defective in removing apoptotic cells, which accumulate in the lung and brain, causing abnormal development and neonatal lethality. Approximately 15% of the homozygotes manifest a hyperplastic brain phenotype resembling that of mice deficient in other cell death-associated genes. The absence of expression in homozygous mice has been confirmed by Northern blot analysis of embryonic fibroblasts. This strain may be useful in studies of mammalian organogenesis, respiratory distress syndromes and congenital brain malformations. | ||
| 008375 | B6.129S6-Map3k4tm1Flv/J | Cryopreserved - Ready for recovery |
| Homozygous mice carrying this targeted mutation develop highly penetrant neural tube defects and are embryonic lethal. CD4 T cells from homozygotes have reduced p38 (Mapk14, mitogen-activated protein kinase 14) activity and defective interferon gamma (Ifng) synthesis. The targeted gene is not expressed in T lymphocytes, as determined by Western blot. Heterozygotes are viable and fertile. This strain may be useful in studies of interferon gamma (IFNG)-producing pathways, as well as development. | ||
| 002646 | B6.129S6-Nf1tm1Fcr/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the Nf1tm1Fcr targeted mutation die during embryonic development due to severe heart malformation (~E13). They also show hyperplasia of neural crest-derived sympathetic ganglia. Heterozygotes do not exhibit any overt disease symptoms. However, as noted in a another targeted mutation deleting the same exon of the Nf1 gene (Jacks, et al., Nat Genetics 7:353-361, 1994), they do show a predisposition to many types of tumors and were recently shown to have deficits in learning and memory (Silva, et al., Nat Genetics 15:281-284, 1997). | ||
| 009082 | B6.129S6-Ostatm1Pda/J | Cryopreserved - Ready for recovery |
| Homozygous (Osta-/-) mice are viable and fertile, with no mRNA or protein expression from the targeted allele. Homozygotes exhibit a small growth deficit that is ameliorated after weaning, partial impairment of intestinal bile acid absorption (impaired basolateral transport of bile acids out of the ileal epithelial cell), altered regulation of bile acid synthesis, a significantly reduced bile acid pool, intestinal lengthening and intestinal hypertrophy. Homozygous mice also have reduced hepatic Cyp7a1 expression that is inversely correlated with ileal expression of fibroblast growth factor 15 (FGF15). These mutant mice may be useful in studying cholesterol metabolism, intestinal drug absorption, intestinal bile acid absorption, bile acid synthesis, and cholesterol and bile acid homeostasis.
In an attempt to offer alleles on well-characterized or multiple genetic backgrounds, alleles are frequently moved to a genetic background different from that on which ..... | ||
| 006566 | B6.129S6-Ppt1tm1Hof/SopJ | Cryopreserved - Ready for recovery |
| Mice that are homozygous for the targeted mutation are viable, normal in size and do not display any gross physical or behavioral abnormalities. No gene product (protein) is detected by immunoassay. Palmitoyl-protein thioesterase activity in the brain of the mutant is reduced to background levels. Although healthy at birth, by age four to five months, mutant mice display lack of grooming and an abnormal gait that progresses to hind limb paralysis. By six to eight months of age mutant mice have a low body weight and display an abnormal clasping behavior. Aggressive behavior results in fighting and dermatitis due to bite wounds. By seven months of age, mortality is 50% with very few mice surviving beyond ten months of age. Myoclonic jerks and seizures manifest at age three to four months. Strong rapid hind limb seizures ("popcorn" seizures) that propel mice several feet also occur. Brain size of the mutant mice is reduced. Histologically, mutant brains show neuronal loss and apoptosis in ..... For more information please see the full phenotype on the strain data sheet | ||
| 004197 | B6.129S6-Rac2tm1Mddw/J | Cryopreserved - Ready for recovery |
| Mice that are homozygous for the targeted mutation are viable, fertile, and normal in size but exhibit phagocytic immunodeficiency. No endogenous gene product (mRNA or protein) was detected by Northern blot analysis, RT-PCR or Western blot analysis. The Rac proteins are a subclass of the Rho family of GTPases, and are involved in actin cytoskeletal organization in cell movement, cell proliferation, kinase signaling pathways, and in superoxide production in phagocytic cells. Neutrophils and mast cells derived from homozygous mice display abnormal actin-based functions: cytoskeleton remodeling ability, adhesion, migration, degranulation, and phagocytosis. Diminished superoxide production in response to some agonists, and reduced total number of leukocytes and neutrophils in peritoneal exudate is observed. As result of functional deficiencies in neutrophil and mast cell populations, these mutant mice are more vulnerable to invasive infection. Slowed growth of mast cells, accompanying redu ..... For more information please see the full phenotype on the strain data sheet | ||
| 008369 | B6.129S6-Rpsatm1Ells/J | Cryopreserved - Ready for recovery |
| Mice that are heterozygous for the targeted mutation are viable, fertile, and do not display any gross behavioral abnormalities. Homozygous null mice have an embryonic lethal phenotype, failing to develop past embryonic days 3.5. Heterozygotes exhibit delayed embryonic growth that normalizes postnatally. On a mixed B6;129 background some cranifacial defects are observed. These abnormalities were no longer observed after the fourth generation backcross (N4) onto the C57BL/6 background. Mean corpuscular hemoglobin concentration (MCHC) is significantly lower in heterozygotes treated with myelosuppressor, Flourauracil, when compared to wild-type controls. Heterozygotes display slightly decreased insulin content in pancreatic islet cells, but have normal glucose tolerance, insulin senstivity and insulin secretion. A significant reduction of gene product (mRNA) is detected by Northern blot analysis of embryonic liver and MEFs isolated from heterozygotes. The MEFs exhibit a delayed productio ..... For more information please see the full phenotype on the strain data sheet | ||
| 002741 | B6.129S7-Alpltm1Sor/J | Cryopreserved - Ready for recovery |
| Mice heterozygous for the Alpltm1Sor targeted mutation appear normal and viable. Homozygous mutant mice are perinatal lethals but can be rescued by pyridoxal treatment. Surviving homozygotes develop epilepsy due to reduced GABA levels in the brain. Bone formation does not appear to be grossly affected in untreated animals, but treated animals exhibit cranial dysmorphology. The targeting vector contained both a b-galalactosidase and a neomycin genes (beta-geo), both of which are under the control of the Alpl promoter and are thus expressed in a tissue specific manner. Specifically, expression occurs in developing bones and in primordial germ cells (PGC), and the beta-galactosidase thus serves as a marker for these tissues. The marker for PGC's is particularly significant because the current marker (alkaline phosphatase staining) is only useful to study early germ cell migration. | ||
| 002188 | B6.129S7-Amhtm1Bhr/J | Cryopreserved - Ready for recovery |
| Male mice homozygous for the Amhtm1Bhr mutation have testes that are fully descended and produce functional sperm. They also develop a uterus which interferes with sperm transfer rendering most infertile. The testes develop Leydig cell hyperplasia. Homozygous females are fertile. | ||
| 005970 | B6.129S7-Atoh1tm2Hzo/J | Cryopreserved - Ready for recovery |
| Mice that are heterozygous for the targeted mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. Homozygous mutant mice have a perinatal lethal phenotype and die shortly after birth. No gene product (protein) is detected in resting chondrocytes by immunohistochemical analysis of embryonic age 18.5 homozygotes. Beta-galactosidase X-gal staining of neural tissue from embryonic day 14.5 and newborn (postnatal day 0) aged homozygous and heterozygous mice mimicks the endogenous expression pattern. Mice homozygous for this mutation exhibit a phenotype similar to the phenotype observed in mice homozygous for the null (loss of function) targeted mutation. Homozygotes lack cerebellar granule neurons, cochlear and ventricular hair cells, and the pontine nuclei in the brain stem. This mutant mouse strain may be useful in studies of brain and inner ear development. | ||
| 003783 | B6.129S7-Bmp7tm1Kry/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the null Bmp7 allele die within 48 hours after birth and appear smaller in size when compared to wildtype litter mates. Most display polydactyly in the hindlimbs and exhibit skeletal abnormalities involving the rib cage and skull. Unilateral or bilateral eye defects are present in a majority of the null animals. This defect occurs variably, ranging from a complete absence of eye structures to eyes of normal size. Autopsies on newborn null pups reveal the presence of dysgenic kidneys with hydroureters. Histological examination indicates that homozygous null kidneys possess less than 3 percent of the wildtype number of glomeruli, suggesting that Bmp7 plays a critical role during nephrogenesis. Heterozygous animals appear to display a wildtype phenotype. | ||
| 003336 | B6.129S7-Cdkn1ctm1Sje/J | Cryopreserved - Ready for recovery |
| Mice lacking the Cdkn1c gene have altered cell proliferation and differentiation, leading to abdominal muscle defects; cleft palate; endochrondral bone ossification defects with incomplete differentiation of hypertrophic chondrocytes; renal medullary dysplasia; adrenal cortical hyperplasia and cytomegaly; lens cell hyperproliferation and apoptosis. The targeted gene is imprinted. The phenotype differs depending on whether the targeted allele is transmitted from the dam or the sire; maternal inheritance of the null allele is lethal. This is a model for the human Beckwith-Wiedemann syndrome. | ||
| 006039 | B6.129S7-Efnb2tm1And/J | Cryopreserved - Ready for recovery |
| Mice homozygous for this targeted mutation show growth retardation and enlargement of the heart at embryonic day 10 (E10), with 100% lethality occurring around E11. Reporter protein expression patterns are consistent with arterial, but not venous, expression of the endogenous gene; prominent lacZ signal is observed in hindbrain and somites, with lower levels in aorta and heart as early as E8.25. Expression in the yolk sac was first detected at E8.5, and is also observed in nephrogenic mesoderm and branchial arches. Homozygous embryos show defective angiogenic remodeling at the capillary plexus stage in both yolk sac and head. Endothelial vessel support cell differentiation of the yolk sac is also defective. Homozygotes lack myocardial trabecular extensions, and capillary ingrowth into the neural tube does not occur. Heterozygous mice are viable, fertile, exhibit no behavioral defects, and have identical lacZ expression patterns. These mutant mice may be useful in studying ..... For more information please see the full phenotype on the strain data sheet | ||
| 006042 | B6.129S7-Efnb2tm2And/J | Cryopreserved - Ready for recovery |
| Mice that are homozygous for this floxed allele are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. When bred to mice with a cre recombinase gene under the control of a promoter of interest, exon 1 of the targeted gene is deleted in the tissue of interest. These mutant mice may be useful in studying the cellular and molecular mechanisms underlying vasculogenesis and angiogenesis, the topography of neovascularization, and adult neovascularization, including tumor angiogenesis. To test the effectiveness of this model, these mutant mice were bred to an endothelial-specific Cre-expressing transgenic mice, Tg(Tek-cre)12Flv (Stock No. 004128) . Offspring homozygous for the Cre-mediated exon 1 deletion show angiogenic remodeling defects and embryonic death identical to homozygous Efnb2tm1And mice (see Stock No. For more information please see the full phenotype on the strain data sheet | ||
| 003264 | B6.129S7-Gcktm1Ts/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the Gcktm1Ts targeted mutation die perinatally with severe hyperglycemia. Heterozygous mutant mice exhibit elevated blood glucose levels and reduced insulin secretion. | ||
| 003329 | B6.129S7-Itgb2tm2Bay/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the Itgb2tm2Bay targeted mutation are viable and fertile, though not good breeders. This mutation differs from the Itgb2tm1Bay mutation (Stock No. 2128) in that it is a null mutation for the Itgb2 subunit of leukocyte integrins. Mutant mice develop chronic dermatitis with extensive facial and submandibular erosions. They also exhibit elevated neutrophil counts, increased immunoglobulin levels, lymphadenopathy, splenomegaly, and abundant plasma cells in skin, lymph nodes, gut and kidney. A severe defect in T cell proliferation can be found in mutant mice when T cell receptors are stimulated either by staphylococcal enterotoxin A or by major histocompatibility complex alloantigens. The phenotype of the mutant mice resembles the phenotype for the human disorder Leukocyte Adhesion Deficiency Type I (LADI). | ||
| 003312 | B6.129S7-Ngftm1Gne/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the disrupted Ngfb gene are born alive, but are smaller, on average, than wild type or heterozygous individuals. They fail to thrive and have a life span of 4 weeks or less, often dying within the first three days of life. Mutant mice are developmentally delayed and exhibit severe cell loss in sympathetic ganglia. They exhibit a more selective cell loss in sensory ganglia, revealing a reduced number of small cells in the dorsal root ganglia (DRG) at 3 days of age, while large cell numbers in the DRG are comparable to wild type mice. Mutant mice also display a decreased responsiveness to pain in comparison to +/+ or +/- littermates. During the first month of life, survival of cholinergic neurons in the basal forebrain does not appear to be affected by absence of NGF, as these cells were observed to differentiate and maintain their phenotype throughout the life span of homozygous mutant mice. Mice heterozygous for the Ngfb gene disruption exhibit normal ..... For more information please see the full phenotype on the strain data sheet | ||
| 005981 | B6.129S7-Rai1tm1Jrl/J | Cryopreserved - Ready for recovery |
| Mice are albino. Heterozygous mice are viable and fertile and weigh slightly less than wildtype at 0-2 weeks of age. RT-PCR shows a blunted N-terminal product in kidney tissues that does not contain the two nuclear localization signals (NLS) or zinc finger like plant homeo domain (PHD). Heterozygous embryos have differential tissue expression of lacZ during development, faithfully recapitulating the expression pattern of Rai1. Less than 5% of heterozygous mice exhibit polydactyly. While noticeably smaller at 4-7 weeks, heterozygotes are significantly obese by 20-23 weeks. 7-18% of heterozygotes have craniofacial defects (broader and shorter nasal bone and lateral bending of the snout). The vast majority of homozygotes are embryonic lethal, with death occurring after implantation but before 15.5 days post coitum (during gastrulation and organogenesis). All homozygotes surviving to birth exhibit growth retardation and premature death with most dying before wean. Homozygous mice ha ..... For more information please see the full phenotype on the strain data sheet | ||
| 002277 | B6.129S7-Srctm1Sor/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the Srctm1Sor targeted mutation display osteopetrosis. Homozygous mutant mice are approximately one-third the size of normal wildtype siblings. Incisors fail to erupt. In general, long bones are shorter in length and show a partial absence of bone marrow. Src has been implicated in development, but its role may be masked by other tyrosine kinases. No overt phenotype is found in brain or platelets, where it is most highly expressed. Mice heterozygous for the Srctm1Sor mutation have no apparent abnormalities. | ||
| 002222 | B6.129S7-Twist1tm1Bhr/J | Cryopreserved - Ready for recovery |
| Homozygotic embryos for the Twist1tm1Bhr targeted mutation die at 11.5. The most prominent phenotype is a failure of cranial neural tube closure. At embryonic day 8.5 the cranial neural folds are elevated but not fused. At embryonic day 9.5 exencephaly is evident (the cranial neuroepithelium is everted and exposed). There is also abnormal somite morphology and abnormal limb bud development. | ||
| 005535 | B6.129S7-Del(11Cops3-Rnf112)1Jrl/J | Cryopreserved - Ready for recovery |
| These mutant mice possess an engineered deletion spanning approximately 3 Mb on mouse Chromosome 11. The region involved encompasses a chromosomal segement that shares conserved synteny with the Smith-Magenis syndrome (SMS) critical interval on human Chromosome 17. Mice carrying one copy of the deletion prove to be viable while mice homozygous for the deletion are embryonic lethal. Heterozygous males suffer from reduced fertility, exhibiting reduced sperm counts and an increase in sperm structural abnormalities. Mutant mice weigh less than their wild type littermates at birth but rapidly gain weight such that by 4 months of age, they exceed wild type weight and eventually become obese (60 grams by 8 months of age). Mutant mice exhibit craniofacial abnormalities characterized by overall shorter skulls with broader, shorter snouts and nasal bones. Mutants also produce abnormal electroencephalograms (EEG) with tonic clonic-type seizures being observed in 22% of the mice tested. Behavioral ..... For more information please see the full phenotype on the strain data sheet | ||
| 005536 | B6.129S7-Dp(11Cops3-Rnf112)1Jrl/J | Cryopreserved - Ready for recovery |
| Homozygous mutant mice are viable and fertile. Studies employing heterozygous mutant mice (where the duplication exists only on one chromosome) indicate that mutant mice weigh less than their wildtype litter mates. Spleens are noted to be slightly smaller than those from wild type mice. Mutant mice also exhibit impaired contextual fear conditioning. Male heterozygotes have been shown to be hyperactive in open field analysis. This mutant mouse may be useful in studies exploring the consequences of duplications involving the SMS critical interval. (Mice bearing the reciprocal deficiency mutation are also available; see Stock: 005535) | ||
| 004341 | B6.129X-Cxcr4tm1Qma/J | Cryopreserved - Ready for recovery |
| Mice that are homozygous null for the Cxcr4 gene die perinatally, with ~30% dying by embryonic day 18.5. Viable embryos are slightly smaller than wild type mice and exhibit vascular congestion in the kidneys, interstitial hemorrhages, and abnormalities in bone marrow and cerebellum. Homozygote embryos also show reduced B-lymphopoiesis, reduced myelopoiesis in fetal liver and an absence of myelopoiesis in bone marrow. Histological examination reveals a distorted architecture in the tissues if the cerebellum, featuring an attenuated external granule cell layer and an ectopic placement of Purkinje cells. Cxcr4 encodes a receptor commonly called CXCR4, the ligand of which is the chemokine stromal cell-derived factor 1 (SDF-1), an important regulator of hematopoietic cell development, migration and proliferation. CXCR4 also functions as a coreceptor for the entry of T-tropic strains of HIV-1 into CD4+ T cells. In an attempt to offer alleles on well-charac ..... | ||
| 005643 | B6.129X-Gusbtm1Sly/J | Cryopreserved - Ready for recovery |
| Homozygous mice are viable but have reduced neonatal survival. Homozygotes are infertile, but fertility can be restored with enzyme replacement therapy. No residual enzyme activity is observed. Homozygous mice are indistinguishable from heterozygous and wild type mice at birth, but show distinct growth retardation, shortened extremities, and facial dysmorphism observable at wean and increasing in severity with age. Long bones of the lower extremities are shortened, broad, and sclerotic. Compared to wild-type, this model has increased urinary glycosaminoglycan and secondary elevation of other lysosomal storage enzymes. Further, homozygous mice show abundant lysosomal storage in liver, kidney, leptomeningeal cells, cornea, spleen, neurons, and retinal pigment epithelium. The phenotype exhibited by this mutant mouse strain is more severe than that observed in a similarly constructed mutant (Stock No. 005644) which bears a L175F point ..... For more information please see the full phenotype on the strain data sheet | ||
| 005644 | B6.129X-Gusbtm3Sly/J | Cryopreserved - Ready for recovery |
| Homozygous mice are viable but infertile. Fertility can be restored with enzyme replacement therapy. Less than 1% residual enzyme activity is observed. Homozygous mice are indistinguishable from wild type mice at birth, but show distinct growth retardation, shortened extremities, and facial dysmorphism observable at three months with a moderate increase in severity with age. Long bones of the lower extremities are shortened, broad, and sclerotic. Compared to wild-type, this model has increased urinary glycosaminoglycan and secondary elevation of other lysosomal storage enzymes. Further, homozygous mice show abundant lysosomal storage in liver, kidney, leptomeningeal cells, cornea, and retinal pigment epithelium. The phenotype exhibited by this mutant mouse strain is less severe than that observed in a similarly constructed mutant (Stock No. 005643) which bears a E536A point mutation. This strain represents a model of human GUS def ..... For more information please see the full phenotype on the strain data sheet | ||
| 008116 | B6.129X1(Cg)-Pvrl1tm1Ytk/J | Cryopreserved - Ready for recovery |
| Mice that are homozygous for the targeted mutation are viable, fertile, and do not display any gross physical or behavioral abnormalities. No gene product (protein) is detected by Western blot analysis of brain extracts from homozygotes. The Donating Investigator reports that homozygous mice are smaller than wild-type littermates until they are six months of age. 30% of homozygotes are born with one or both eyes open. Homozygotes exhibit microthalmia, absent vitreous body, abnormal undulating retinal layers, deformed lenses with adhered ciliary epithelia and lack ciliary processes. At E16.5, the eyelids of homozygotes are not fused and the apex-apex junction of the pigmented and non-pigmented cell layers of the ciliary epithelia are separated. The number of puncta adherentia junctions at the synapses between mossy fibers and CA3 pyramidal cell dendrites is decreased. Mossy fiber projection through the hippocampus is abnormal. Homozygotes have abnormally long hippocampal infrapyramidal ..... For more information please see the full phenotype on the strain data sheet | ||
| 008466 | B6.129X1(Cg)-Shhtm6Amc/J | Cryopreserved - Ready for recovery |
| While mice heterozygous for the Shh::gfp allele are viable, fertile, and indistinguishable from wild-type littermates, homozygotes are stillborn and show developmental defects consistent with reduced Sonic Hedgehog (Shh) signaling. The Shh::gfp mutation has GFP inserted into the endogenous Shh processing site (and adds a new processing site after the GFP). Thus normal Shh processing leads to secretion of the GFP-tagged Shh signaling ligand (N-Shh::GFPp) instead of wild-type Shh; with N-Shh::GFPp retaining both GFP and lipid modifications post-processing. Biochemical and cellular analysis indicates that Shh::GFP undergoes correct processing to produce active, bi-lipidated signaling peptides. Shh::GFP processing is, however, less efficient and results in reduced levels of Shh::GFP compared with wild-type Shh protein. These Shh::gfp mice produce bioactive, fluorescently labeled Shh from the endogenous Shh locus and may be useful to directly visualize the function of S ..... For more information please see the full phenotype on the strain data sheet | ||
| 008907 | B6.129X1-Cd2aptm1Shaw/J | Cryopreserved - Ready for recovery |
| Homozygous targeted mutant mice begin to show growth retardation at about 3 weeks of age, and die at approximately 6 weeks. Cardiac hypertrophy, splenic and thymic atrophy, and ascites may be found upon postmortem examination. Proteinuria can be detected as early as 2 weeks of age, indicating kidney dysfunction. The predominant kidney pathology involves glomeruli which become sclerotic by 4 weeks. CD2AP protein is not detected in the thymus, kidney, liver or spleen of homozygous targeted animals. Naive and cultured T cells show increased sensitivity to antigen, increased proliferation, increased number of cell divisions and increased apoptosis compared to wild type cells. Heterozygotes show increased susceptibility to glomerular injury by nephrotoxic antibodies or immune complexes. | ||
| 005626 | B6.129X1-Cxcl13tm1Cys/J | Cryopreserved - Ready for recovery |
| Mice that are homozygous for the targeted mutation are viable, fertile and normal in size. No endogenous gene product (mRNA or protein) is detected in spleen or mesenteric lymph node. EGFP is not expressed. Severe, but incompletely penetrant, defects of the inguinal, iliac, axillary, brachial, popliteal, deep cervical, renal, sacral, and parathymic lymph nodes are observed. The lymphoid patch of the cecum is absent and Peyer's patches are severely reduced and typically malformed. This mutant has defective B cell organization, an absence of primary follicle follicular dendritic cells, and reduced B cell LTa1b2 expression in spleen and lymph nodes. This mutant may be useful in B cell, follicular dendritic cell, and/or lymph node development studies. | ||
| 002099 | B6.129X1-Fostm1Pa/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the Fostm1Pa mutation show reduced placental and fetal weights, lack teeth, and have a significant pre-weaning loss of viability. Survivors grow at a normal rate until about 11 days of age when they begin to develop a severe osteopetrosis. They may live as long as 5-7 months. Homozygous mice have delayed or absent gametogenesis and show lymphopenia. They also exhibit behavioral abnormalities, including hyperactivity and diminished response to external stimuli. | ||
| 006199 | B6.129X1-Fzd9tm1Uta/J | Cryopreserved - Ready for recovery |
| Mice homozygous for this targeted mutation are viable and fertile, with no gross anatomical abnormalities. Endogenous transcripts are absent in skeletal muscle and testis. Homozygotes exhibit abnormal B-cell development, reduced survival, lymphadenopathy secondary to accumulation of plasma cells, splenomegaly, and accelerated thymic atrophy. Mutant mice do not exhibit any obvious features of Williams-Beuren syndrome (WBS). These mice may be useful in studies of hematopoietic/lymphoid development and function (including B-cell and T-cell development), plasma cell homeostasis, and the Wnt/frizzled signaling pathway. In an attempt to offer alleles on well-characterized or multiple genetic backgrounds, alleles are frequently moved to a genetic background different from that on which an allele was first characterized. This is the case for this strain. It should be noted that the phenotype could vary from that originally published. We will modify the strain description if necessary as ..... | ||
| 008580 | B6.129X1-Gpr4tm1Witt/J | Cryopreserved - Ready for recovery |
| These G protein-coupled receptor 4 targeted mutation mice are phenotypically normal in adulthood. Neonates show a higher frequency of mortality, however. Homozygous crosses produce litter sizes that are approximately 30% smaller than wild-type intercrosses on a C57BL/6 genetic background (backcross generations N3 and N5). A fraction of knockout embryos and neonates have spontaneous hemorrhages, as well as dilated and tortuous subcutaneous blood vessels. The mice show impaired association of vascular smooth muscle cells with capillaries and small arteries and veins. Mesangial cells in kidney glomeruli are significantly reduced in homozygous targeted mice. There is impaired contact between mesangial cells and renal glomerular capillaries. Some neonates exhibit respiratory distress with airway lining cell metaplasia. In studies of vascular pH sensing, microvessel outgrowth from homozygous aortas is less inhibited by acidic extracellular pH. Although an IRES-GFP insertion was incorporated ..... For more information please see the full phenotype on the strain data sheet | ||
| 013547 | B6.129X1-Hip1tm4Tsr/J | Cryopreserved - Ready for recovery |
| In the Hip1LSP-H/P strain, a floxed-STOP cassette causes termination of the endogenous huntingtin interacting protein 1 (Hip1) gene and a human HIP1/PDGFbR (H/P) cDNA fused to another polyA site and a neomycin resistance (neo) cassette, replace endogenous exons 2-7. Heterozygous mice are viable, fertile, and normal in size. These mice exhibit gross micro-ophthalmia and cataracts. When bred to mice that express Cre recombinase, offspring will have the floxed-STOP cassette deleted in the cre-expressing tissue(s), resulting in H/R fusion protein overexpression in cre-expressing cells. The overexpression of H/P mimics the human chromosomal translocation, t(5;7)(q33;q11.2), leading to constitutively active PDGFbR signalling and chronic myelomonocytic leukemia (CMML) development in humans. For example, H/P is able to transform hematopoietic cells to factor-independent growth in culture. When Hip1LSP-H/P mice are bred to mice tha ..... For more information please see the full phenotype on the strain data sheet | ||
| 009081 | B6.129X1-Id1tm1Xhsu/J | Cryopreserved - Ready for recovery |
| Homozygous Id1/GFP mice (Id1GFP/GFP) are viable and fertile; harboring an enhanced green fluorescent protein (EGFP) "knock-in" allele that both abolishes endogenous Id1 gene function and expresses EGFP from the Id1 promoter/enhancer elements. As such, EGFP fluorescence is directed to Mac1+/Ly6G+ myeloid lineage bone marrow cells (although rare fluorescence is reported in B220+ and/or CD19+ bone marrow cells). Homozygotes exhibit decreased long-term repopulating of hematopoietic stem cell (HSC) populations and a ~40% reduction in SLAM positive HSC. These Id1/GFP mutant mice allow fluorescent monitoring of Id1 expression in the bone marrow (granulocyte and macrophage progenitors as well as downstream myeloid lineage cells) and may be useful for studying HSC maintenance and myeloid-versus-lymphoid lineage decisions. NOTE:: Because the Id1GFP mutation originated in 129X1-derived ES cells that harbor the ..... | ||
| 005248 | B6.129X1-Igfbp1tm1Taub/J | Cryopreserved - Ready for recovery |
| Mice that are homozygous for the targeted mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. No gene product (mRNA or protein) is detected by Northern or Western blot analysis of post partial hepatectomy liver tissue. Immediately following hepatectomy, homozygotes exhibit increased liver injury (increased necrosis and elevated liver enzymes) and delayed and diminished DNA synthesis. Induction of cyclin A and cyclin B1 expression in hepatocytes from posthepatectomy livers is delayed and decreased, cyclin E expression is decreased, induction of CCAAT enhancer binding protein (C/EBP) beta expression is absent, and activation of mitogen-activated protein kinase/extracellular signal-regulated kinase (MAPL/ERK) is diminished. Elevated levels of activated matrix metalloproteinase (Mmp9) and active TGF-beta1 result with Fas agonist (Jo-2 mAb) challenge. Within 3 hours of Fas agonist treatment hepatocytes exhibit increased apoptosis a ..... For more information please see the full phenotype on the strain data sheet | ||
| 002100 | B6.129X1-Juntm1Pa/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the Juntm1Pa targeted mutation die around embryonic day 12.5. Cultured fibroblasts from these embryos show reduced growth rates, even when cultured with various mitogens. | ||
| 009365 | B6.129X1-Mark2tm1Hpw/J | Cryopreserved - Ready for recovery |
| Homozygous targeted mice show and increased metabolic rate, decreased adiposity, resistance to high fat diet-induced weight gain, and insulin hypersensitivity. Western blot analysis demonstrates that expression is eliminated in brain, spleen, kidney and liver, lymph nodes, thymus, white and brown adipose tissues, large and small intestines, stomach. Homozygous pups are born slightly below predicted Mendelian ratios and show both embryonic and postnatal growth retardation as well as increased mortality as compared to wildtype animals. The age of death can range from 3 weeks to several months. Approximately 85% of homozygotes exhibit some combination of immunological disorders between the ages of 5 and 12 months. B and T cell development is normal, but CD4+ T cells lacking this protein exhibit a marked upregulation of the memory marker CD44 and produce more gamma interferon and interleukin 4 on stimulation through the T cell receptor in vitro. B cell responses to T ..... For more information please see the full phenotype on the strain data sheet | ||
| 006072 | B6.129X1-Mcl1tm2Sjk/J | Cryopreserved - Ready for recovery |
| Mice that are heterozygous for the targeted mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. Homozygous mice are embryonic lethal. These mutant mice may be useful in studies of immune function, including apoptosis, B and T cell development, and bone marrow cell differentiation. When bred to a strain with loxP sites inserted into the same targeted allele (Stock No. 006088) and a strain with a Cd19 null allele and expressing Cre recombinase during the B lymphocyte development (Stock No. 004126), this mutant mouse strain may be useful in studies of lymphocyte development. When bred to a strain with loxP sites inserted into the same targeted allele (Stock No. 006088) and a strain expressing interferon inducible Cre recombinase in t ..... | ||
| 004863 | B6.129X1-Snap25tm1Mcw/J | Cryopreserved - Ready for recovery |
| Homozygous mutant mice die at birth from respiratory failure. At embryonic day 17.5 to 18.5 homozygous embryos appear smaller and do not display spontaneous movement or sensorimotor reflexes. Dilated vascular channels in subcutaneous tissues give the embryos an external blotchy appearance. No gene product (mRNA or protein) is detected by Northern or Western blot analysis of brain tissue from homozygous animals. Histological analysis of fetal diaphragm tissue reveals a dispersed pattern of innervation and fewer layers of muscle fibers. Thin, disarrayed intercostal and anterior chestwall muscles are also observed. Spontaneous miniature endplate potential (mEPP) activity is detected in the diaphragm phrenic nerve, but no evoked endplate potentials (EPP), evoked neurotransmitter release or muscle contraction is detected with stimulation of the neuromuscular junction (NMJ). Mutant NMJs exhibit larger endplate diameters and lower levels of acetylcholinesterase. Tetrodotoxin (TTX) resistant m ..... For more information please see the full phenotype on the strain data sheet | ||
| 007445 | B6.129X1-Wasf1tm1Jsco/J | Cryopreserved - Ready for recovery |
| Viability of homozygotes is reduced; approximately 20% die within the first week of life. These animals are small in size, have impaired neurite outgrowth, impaired spinogenesis, elevated long-term potentiation (LTP), decreased long-term depression (LTD), and behavioral abnormalities including reduced sensorimotor function, reduced anxiety and impaired learning and memory (both spatial and non-spatial). Some symptoms are similar to those of patients with 3p-syndrome mental retardation. Protein derived from the targeted locus is absent from brain samples as assessed by immunoblot in mice homozygous for this allele. | ||
| 008140 | B6.C(Cg)-Atcayji/BurJ | Cryopreserved - Ready for recovery |
| ji homozygotes can first be identified at approximately 12 days of age by a leaning, zig-zag gait when they attempt to run and by the difficulty they have righting themselves when placed on their backs. Disease progression is rapid such that within two more days mutants are found to crouch on their heels in a squatting position and can not run without falling. Within three to four days of the first symptoms, tetany is seen during exertion or excitement. This is initially most pronounced in the forelegs, which the mice beat up and down during these two- to three-second spasms. Failure to gain weight is seen by the third week of life and it is unclear whether this results from an inability to take in food. The severity and frequency of tetany increases, and during the fourth week weight loss and increased weakness precede death. The mean age of death is approximately 31 days. Tetrahydrobiopterin levels in the brain and GTP cyclohydrolase activity in the liver are lower in ji homoz ..... For more information please see the full phenotype on the strain data sheet | ||
| 006559 | B6.C-H2-Kbm1/ByBir-Gusbmps/BrkJ | Cryopreserved - Ready for recovery |
| Mice homozygous for the Gusbmps allele exhibit skeletal dysplasia as well as cognitive, hearing and visual deficits. Lifespan of the homozygotes is approximately six months. Homozygotes lack the lysomal enzyme, beta-glucoronidase, and, as a result, glycosaminoglycans accumulate in tissues throughout the body. Female homozygotes rarely conceive and do not lactate. This strain is a model for the human lysomal storage disease, mucopolysaccharidosis type VII. | ||
| 000256 | B6.C-H2-Kbm1/ByBir-Gusbmps/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the Gusbmps allele exhibit skeletal dysplasia as well as cognitive, hearing and visual deficits. Lifespan of the homozygotes is approximately six months. Homozygotes lack the lysomal enzyme, beta-glucoronidase, and, as a result, glycosaminoglycans accumulate in tissues throughout the body. Female homozygotes rarely conceive and do not lactate. This strain is a model for the human lysomal storage disease, mucopolysaccharidosis type VII. | ||
| 000495 | B6.C-H38c/By-KitW-56J/J | Cryopreserved - Ready for recovery |
| 000560 | B6.C-H7b/By KitW-50J/J | Cryopreserved - Ready for recovery |
| 004202 | B6.C3 Pde6brd1 Hps4le/+ +-Lmx1adr-8J/J | Cryopreserved - Ready for recovery |
| 000017 | B6.C3-Avy/J | Cryopreserved - Ready for recovery |
| Homozygous (Avy/Avy) and heterozygotes (Avy/A and Avy/a) show considerable variation in appearance, ranging from clear yellow, to mottling with dark patches, to a completely agouti-like coat. The variation is strongly influenced by the agouti-locus genotype and strain genome of the dam. Homozygotes and heterozygotes tend to become obese, and the degree of obesity is correlated with the amount of yellow in the coat. Avy resembles Ay in causing greater tumor susceptibility and lower graft vs. host reactivity and higher hepatic malic enzyme activity. Homozygotes have a reduced humoral response to tetanus toxoid and decreased rates of carbon clearance as well as impaired mononuclear phagocyte function. The greater tumor susceptibility as well as several altered immune responses occur in Avy/a mice of mottled phenotype but not in those of agouti phenotype. | ||
| 000026 | B6.C3-Gli3Xt-J/J | Cryopreserved - Ready for recovery |
| Mice heterozygous for the extra toes-J spontaneous mutation (Gli3Xt-J) have varying numbers of extra digits on preaxial side of feet. Homozygous mutant mice die in utero with multiple abnormalities. Excessively large pharyngeal arches and an open neural tube are evident at E9. Homologous to Grieg's cephalopoly-syndactyly, a rare multi-system syndrome in humans. | ||
| 006557 | B6.C3-Gusbmps-2J/BrkJ | Cryopreserved - Ready for recovery |
| Mice homozygous for the Gusmps-2J allele exhibit a phenotype similar to Gusmps homozygotes including skeletal deformities, lysosomal storage disease and elevated levels of the lysosomal enzymes alpha-galactosidase and beta-hexosaminidase (Gwynn et al., 1998). Like the Gusmps heterozygote, Gusmps-2J heterozygotes have a 26-85% reduction in beta-glucuronidase activity. depending on tissue type (Gwynn et al., 1998, Birkenmeier et al., 1989). Homozygotes of both alleles have beta-glucuronidase activity levels at 1% of the control level. Unlike the Gusmps homozygote, Gusmps-2J homozygotes on the C3H background live longer, are fertile and can raise litters to weaning age (Gwynn et al., 1998). In addition to a difference in the nature of the mutations between these two alleles, it is also likely that the phenotypic differences are the result of strain background. C3H/HeOuJ mice carry a ..... For more information please see the full phenotype on the strain data sheet | ||
| 000122 | B6.C3-KitW-44J/J | Cryopreserved - Ready for recovery |
| KitW-44J heterozygotes have white-tipped feet and a white tail tip although the belly spot standardly found in KitW* mutations is very small in this mutant, sometimes restricted to only a few hairs. Homozygotes have a flecked pelt that is predominantly white, especially ventrally, with pigmented patches particularly at the lateral borders. The pigmentation fades with age yielding black-eyed white mice by approximately 9 months of age. While many KitW-44J homozygotes are viable, fertility is diminished. Homozygous females have greatly reduced fertility and gonads that are smaller in size with reduced activity. Homozygous males are sterile although spermatogenesis occurs. The KitW-44J allele does not produce anemia in either its heterozygous or homozygous state. The red blood cell count, white blood cell count, hematocrit, and mean cell volume are normal. However, bone marrow transplantation experiments reveal that t ..... For more information please see the full phenotype on the strain data sheet | ||
| 000100 | B6.C3-Zbtb16lu/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the luxoid mutation exhibit preaxial polydactly or oligodactly of the hindfeet, preaxial polydactly of the forefeet, tail kinks, tibial hemimelia and occasionally radial hemimelia. Heterozygotes exhibit preaxial polydactly or hyperphalangy of the hindfeet. An increased number of vertebra, ribs and sternebrae are found in homozygotes and to a lesser extent in heterozygotes (Forsthoefel, 1958). Male mice are infertile with a complete lack of spermatogonia after six weeks (Johnson et al., 1971). By eight months, many seminiferous tubules are agametic, lacking one or more germ cell generations (Buaas et al., 2004). Histological and FACS analysis demonstrate that luxoid homozygotes have progressive germ-cell loss starting as early as eight days (Buaas et al., 2004). This mutant mouse strain may be useful in studies related to male infertility or contraception, limb or skeletal abnormalities, and stem cell research. | ||
| 000991 | B6.C58-KitW-57J/J | Cryopreserved - Ready for recovery |
| 006562 | B6.CBy(Cg)-Gusbmps Gpi1a-m1J/BrkJ | Cryopreserved - Ready for recovery |
| Mice homozygous for the "mps" (mucopolysaccharidosis type VII or MPS VII) mutation are devoid of expression of the lysosomal enzyme beta glucuronidase. Homozygous animals are viable, but females have a deficiency in lactation. Skeletal and connective tissue anomalies in both males and females are believed to prevent successful breeding. As this mutation is recessive, heterozygous mice are phenotypically similar to wildtype. Homozygotes exhibit short and thickened long bones (smaller than heterozygous or wildtype littermates), "pug type" appearance of the nose, hepatomegaly, splenomegaly, corneal clouding, and deafness. MPS VII mice are a model of the beta glucuronidase enzyme deficiency in humans called Sly Disease. They may be useful in developing new therapies (enzyme replacement, cell transplantation, gene therapy) broadly applicable to other lysosomal storage diseases. | ||
| 000552 | B6.Cg-Aw-J EdaTa-6J Sxr | Cryopreserved - Ready for recovery |
| 001730 | B6.Cg-Aw-J EdaTa-6J Sxrb Hya-/J | Cryopreserved - Ready for recovery |
| 000535 | B6.Cg-Atp7aMo-blo/J | Cryopreserved - Ready for recovery |
| Female mice heterozygous for the blotchy alleles (Atp7aMo-blo) are viable and fertile. They have irregular patches of light-colored fur. Hemizygous males and homozygous females have reduced viability and many are infertile. Hemizygotes and homozygotes are light all over with no blotching, are usually small, and occasionally have deformed hindlegs. Most hemizygotes and homozygotes have defective elastin in the aorta and usually die with aortic aneurysm. Hemizygous males have enlarged air spaces in the lung (emphysema), probably because of defective elastin and collagen. Skin collagen and aortic elastin have defective crosslinking at the step at which lysine residues are converted to aldehydes. Hemizygous males have a deficiency of noradrenalin in the brain, probably because a deficiency of copper shown to exist in the brain causes defective activity of the enzyme dopamine-beta-hydroxylase. Copper absorption from the gut and hepatic copper concentration are reduced to 6 ..... For more information please see the full phenotype on the strain data sheet | ||
| 001381 | B6.Cg-Atp7aMo-pew2J/J | Cryopreserved - Ready for recovery |
| 000053 | B6.Cg-Atp7aMo-to/J | Cryopreserved - Ready for recovery |
| 000056 | B6.Cg-Bmp5se/J | Cryopreserved - Ready for recovery |
| 011075 | B6.Cg-Bolt/GrsrJ | Cryopreserved - Ready for recovery |
| Mice carrying the dominant mutation lightning bolt tail have variable-length kinked tails, curved spine, and abnormal spinal vertebral bodies. When picked up by the tail, carriers orient their rear legs in abnormal positions. Only 25% of the offspring of heterozygote x heterozygote crosses express the lightning bolt tail phenotype suggesting prenatal lethality. | ||
| 006230 | B6.Cg-Cebpatm1Dgt Tg(Mx1-cre)1Cgn/J | Cryopreserved - Ready for recovery |
| Mice homozygous for this C/EBPalpha "floxed" allele (C/EBPalphaF) and hemizygous for the Mx1-cre transgene are viable and fertile, and exhibit no abnormalities in the hematopoietic system. In the absence of cre expression, the C/EBPalphaF allele functions similarly to the wildtype allele. Mx1-Cre transgene expression can be induced by administration of either interferon (alpha or beta) or synthetic double-stranded RNA (such as poly I:C), leading to deletion of the "floxed" gene. Following 3-4.5 weeks of poly I:C treatment, deletion efficiency is greater than 95% in hematopoietic tissues, and C/EBPalpha protein is undetectable in bone marrow. These poly I:C-treated, mice have defective myeloid cell development, increased hematopoietic stem cell repopulating activity, and a significantly increased myeloblast population in the bone marrow compartment. These mutant mice may be useful in studies of hematopoietic cell (e.g. myeloid and basophil progenitor cell) d ..... For more information please see the full phenotype on the strain data sheet | ||
| 005642 | B6.Cg-Clutm1Jakh/J | Cryopreserved - Ready for recovery |
| Mice that are homozygous for the targeted mutation are viable, fertile, normal in size, and do not display any behavioral abnormalities. No protein is detected in serum, liver, or brain and in situ hybridization shows no mRNA in heart. This mutant has been studied for different functions on different backgrounds. On the Swiss Black outbred background, aging homozygous mutant mice develop a progressive glomerulopathy characterized by deposition of tubulo-fibrillary immune complexes devoid of inflammation or necrosis. On the FVB/N background, homozygous null mice with chemically induced autoimmune myocarditis show severe and diffuse lesions with postinflammatory functional impairment. Induced skin carcinogenesis is more severe than wildtype. On the C57BL/6 background, homozygotes given a hypoxia-ischemia brain injury (modeling cerebral palsy) had 50% less brain injury compared to wild type. Conversely, mutants have less neuroprotective properties after permanent focal cerebral isc ..... For more information please see the full phenotype on the strain data sheet | ||
| 006408 | B6.Cg-Dab1scm-3J/J | Cryopreserved - Ready for recovery |
| By 2 weeks of age, mice homozygous for the scrambler 3 Jackson mutation are smaller than their littermates and ataxic with a severely unstable gait and inability to right themselves. They rarely survive beyond 3 weeks of age, although heterozygotes have a normal lifespan. Histology of homozygotes shows disorganization of the hippocampal layers and a lack of cerebellar folia. The scrambler 3 Jackson mutation causes a more severe phenotype than does the scrambler 2 Jackson mutation. | ||
| 008608 | B6.Cg-Dmc1tm1Jcs/JcsJ | Cryopreserved - Ready for recovery |
| While mice heterozygous for this meiosis-specific RecA homolog (Dmc1) mutation are viable and fertile, homozygotes are viable but sterile due to arrest of gametogenesis in the first meiotic prophase (prophase I). No RNA message from the targeted gene is observed in homozygous testis. Homozygous males have reduced testis size and no mature spermatozoa in the epididymis; spermatocytes undergo meiotic arrest from defective double strand break repair and extensive chromosome asynapsis. Homozygous females exhibit defective oogenesis due to similar aberrations occurring at the pachytene stage or earlier and thus have small, malformed ovaries with complete depletion of oocytes and follicles by adulthood. These Dmc1-mutant mice may be useful in studying gametogenesis and meiosis (including double strand breaks, chromosome asynapsis, DNA repair mechanisms, homologous recombination, and the pachytene checkpoint). | ||
| 006429 | B6.Cg-Dwh/GrsrJ | Cryopreserved - Ready for recovery |
| Mice carrying the dominant mutation dispersed white hair on this predominantly C57BL/6J background have white hairs dispersed throughout the normally black coat along with patches of white hairs on the back or belly. | ||
| 004275 | B6.Cg-Fignfi/Frk | Cryopreserved - Ready for recovery |
| 001622 | B6.Cg-Gpi1a Hbath-J | Cryopreserved - Ready for recovery |
| 006407 | B6.Cg-Gusbmps/BrkJ | Cryopreserved - Ready for recovery |
| Mice homozygous for the "mps" (mucopolysaccharidosis type VII or MPS VII) mutation are devoid of expression of the lysosomal enzyme beta glucuronidase. Homozygous animals are viable, but females have a deficiency in lactation. Skeletal and connective tissue anomalies in both males and females are believed to prevent successful breeding. As this mutation is recessive, heterozygous mice are phenotypically similar to wildtype. Homozygotes exhibit short and thickened long bones (smaller than heterozygous or wildtype littermates), "pug type" appearance of the nose, hepatomegaly, splenomegaly, corneal clouding, and deafness. These mice have the H2b haplotype typical of inbred C57BL/6 mice. MPS VII mice are a model of the beta glucuronidase enzyme deficiency in humans called Sly Disease. They may be useful in developing new therapies (enzyme replacement, cell transplantation, gene therapy) broadly applicable to other lysosomal storage diseases. | ||
| 002086 | B6.Cg-Gusbmps Tg(Gussx)1Wat/J | Cryopreserved - Ready for recovery |
| Androgen induction of Gus is faster but lower in M. saxicola than in Mus musculus. However, growth hormone induces Gus upregulation in Mus musculus but has no affect on Gus induction in Mus saxicola. When transferred to a Mus musculus background in the absence of endogenous Gus the Mus saxicola derived Gus (Gussx) also showed no growth hormone enhancement of induction supporting the idea that an evolutionary change in regulatory sequence underlies this variation in response. These mice do not exhibit the phenotypic characteristics of Gusmps homozygotes indicating rescue by Gussx. (Niermann and Watson, 1999; Paigen 1989.) | ||
| 008780 | B6.Cg-Hcn4tm1Rsei/J | Cryopreserved - Ready for recovery |
| These mice carry the HCN4R699Q mutation which results in an amino acid substitution in the cyclic nucleotide (cAMP)-binding domain of the protein. Mice that are heterozygous for the targeted mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. Homozygous mice have an embryonic lethal phenotype, developing normally until embryonic day 11 but then failing to develop past embryonic day 12. Western blot analysis of embryonic hearts indicates that the mutation does not alter the level of gene product (protein) expression. Isolated embryonic hearts from homozygous and heterozygous animals younger than embryonic day 11.5 have decreased heart rates when compared to wild-type. Homozygous embryonic hearts do not respond with increased heart rate to adrenergic stimulation. Cardiomyocytes isolated from homozygous embryos beat more slowly, and have slower current activation and faster current deactivation when compared to contro ..... For more information please see the full phenotype on the strain data sheet | ||
| 002283 | B6.Cg-KitW-19H/EiJ | Cryopreserved - Ready for recovery |
| This deletion is a dominant mutation causing white spotting on the feet, tail, belly, and occasionally elsewhere. Homozygosity is embryonic lethal. On the C57BL/6 background approximately 60% of heterozygous females have a closed vagina. The ovaries from these heterozygotes are normal and fine for transplantation. On the C57BL/6 background in the presence of the YAKR/J Chromosome (available from Stock No. 007250), KitW-19H heterozygosity results in sex reversed XY females. | ||
| 000133 | B6.Cg-KitW-24J/J | Cryopreserved - Ready for recovery |
| 000139 | B6.Cg-KitW-25J/J | Cryopreserved - Ready for recovery |
| 000164 | B6.Cg-KitW/J | Cryopreserved - Ready for recovery |
| 002993 | B6.Cg-KitlSl-18H/EiJ | Cryopreserved - Ready for recovery |
| 008656 | B6.Cg-KitlSl-gb/MbeJ | Cryopreserved - Ready for recovery |
| The 120 Kb deletion in the spontaneous mutation, grizzle belly, represents the smallest complete deletion among the Kit ligand (Steel) alleles. Mice homozygous for the mutation die just before or after birth. Mice that survive to postnatal day 1 display a substantial decrease in peripheral red blood cells (RBC) and a severe anemia. Heterozygotes exhibit a mild anemia, and some decrease in peripheral RBC. In the homozygous embryo there is an absence of primordial germ cells (PGCs) by E11.5; an intermediate number of PGCs are found in the heterozygote. Like the other mutations at the Steel locus, this allele causes abnormal pigmentation. Heterozygotes can be identified by a head spot and light belly. This strain may be useful for research in hematopoiesis, pigmentation and gametogenesis. | ||
| 000124 | B6.Cg-KitlSl Krt71Ca/J | Cryopreserved - Ready for recovery |
| The multiple steel mutations (KitlSl) behave in a semidominant fashion and cause deficiencies in pigment cells, germ cells, and blood cells paralleling those caused by the Kit locus mutations (dominant spotting alleles). Most of the alleles at steel locus cause severe anemia in utero and death by 15 to 16 days of gestation in homozygous mutant mice. However, compounds of two steel mutants (e.g. KitlSl/KitlSl-d are viable, black-eyed white, are usually sterile in one or both sexes, and have severe macrocytic anemia. Heterozygous steel mice have a diluted coat color with a small amount of white spotting, are viable and fertile, and may have a slight macrocytic anemia. Primordial germ cells are absent in the nonviable steel homozygotes and severely reduced in steel heterozygotes. Mast cells are virtually absent in skin and other tissues of steel mutant mice. Tumors tend to develop in germ-cell-deficient ovaries with adva ..... For more information please see the full phenotype on the strain data sheet | ||
| 006337 | B6.Cg-Lgals1tm1Rob/J | Cryopreserved - Ready for recovery |
| Mice that are homozygous for the targeted mutation are viable, fertile, normal in size and do not display any gross physical abnormalities. No gene product (mRNA or protein) is detected by in situ hybridization of dorsal root ganglia and facial motorneuron nucleus and Western blot analysis of adult muscle tissue. Neonate mice homozygous for the mutation have abnormal axon targeting to the caudal region of the olfactory bulb. Mutant mice have fewer neural progenitor cells in the subventricular zone of the forebrain, although the number of apoptotic cells are not affected. Homozygotes exhibit hypoalgesia with a diminished nocifensive withdraw response to thermal testing. Immunohistological analysis of dorsal root ganglia from homozygotes reveals abnormal proportions of axon subpopulations and a larger number of myelinated axons. Mutant mice have a longer recovery of motorneuron function after experimental nerve injury. This mutant mouse strain represents a model that may be useful in stu ..... For more information please see the full phenotype on the strain data sheet | ||
| 000194 | B6.Cg-Lx KitW-v/J | Cryopreserved - Ready for recovery |
| Kit mice possess pleiotropic defects in pigment-forming cells, germ cells, RBC's and mast cells. In addition, they exhibit impaired resistance to parasitic infection and an intrinsic progenitor cell defect. KitW-v homozygotes resemble KitW homozygotes in color, anemia, and germ cells, but many of them survive to maturity. The lack of germ cells in mutant mice leads to the development of some ovarian tumors (mesotheliomas and granulosa cell), associated with an overproduction of pituitary gonadotropic hormone. Heterozygous lx mice show preaxial polydactyly (including hyperphalangy of the first digit) of the hindfeet. Homozygotes show preaxial polydactyly or oligodactyly of the hindfeet, reduction of the tibia, loss of part of the femur and pubis, decrease in number of presacral vertebrae, and anomalies of the urogenital system including horseshoe kidney, hydronephrosis, and hydroureter.
Although homozygous KitW-v/ | ||
| 000158 | B6.Cg-MitfMi-wh/MitfMi/J | Cryopreserved - Ready for recovery |
| Mutations at the Mitf locus affect eye size, pigmentation, and the capacity for secondary bone resorption. Mice homozygous for the white allele (MitfMi-wh) display an overall absence of pigment cells with the exception of the retina which expresses a few giving the eye a small amount of pigment. Homozygotes white mutant mice show slight microphthalmia but normal skeleton. Mice heterozygous for the microphthalmia (MitfMi) mutation have less iris pigment than wildtype and often have white spotting on the belly, head, and tail. Homozygous mutant mice have small eyes and are devoid of pigment in the eyes, inner ear, and skin. Homozygotes are deaf at an early age. There is a decrease of mast cells in the spleen and gut. Most homozygotes die around weaning but some may live for several months. There is a deficiency of secondary bone resorption (osteopetrosis) and the incisors fail to erupt. Immunological defects include decreased macrophage chemotac ..... For more information please see the full phenotype on the strain data sheet | ||
| 000566 | B6.Cg-Os +/+ Cacna1atg-la/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the leaner spontaneous mutation (Cacna1atg-la) begin to show ataxia, stiffness, and retarded motor activity by 8 to 10 days of age. Many homozygous mutant mice die by weaning age, but some survive, and females may even breed. Homozygous mutant adults are characterized by instability of the trunk and hypertonia of the trunk and limb muscles. Seizures have not been observed. The cerebellum is reduced in size, particularly in the anterior region. There is loss of granule cells beginning at 10 days of age and loss of Purkinje and Golgi cells beginning after 1 month. Leaner/tottering heterozygotes (Cacna1atg-la/Cacna1atg) show ataxia, stiffness, and retarded motor activity at 15 to 17 days of age. Within a few days, they develop a wobbly gait and intermittent focal seizures which continue throughout life. The cerebellum shows shrinkage and degenerative changes of the Purkinje cells. | ||
| 000311 | B6.Cg-Pax3Sp N/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the splotch spontaneous mutation (Pax3Sp) die at E13 due to neural tube defects. Malformations of homozygous mutant embryos include rachischisis in the lumbosacral region and frequently in the region of the hindbrain. Heterozygous splotch mice show white spotting on the belly and occasionally on the back, feet, and tail. There are multiple alleles at this locus including splotch-delayed (Pax3Sp-d, Stock No. 000565), which is similar to splotch but displays caudal rachischisis only. This C57BL/6 congenic strain is also carrying the semidominant naked spontaneous mutation (N). | ||
| 000561 | B6.Cg-Ps/J | Cryopreserved - Ready for recovery |
| At embryonic day 13 polysyndactyly homozygotes lack the expected initiaion of digit formation and at embryonic day 14 the margins of the footplates are ragged, the forefoot has one central large outgrowth instead of proper digit formation, and the apical ectodermal ridge is abnormal. There is subcutaneous edema of the limbs and trunk and homozgotes die perinatally. Heterozygotes weigh slightly less than wildtype littermates at birth and at 20 days of age are, on average, 10% lighter than sibling controls. All four feet are syndactylous, the first digit is short and broad and there is an extra digit between digits 3 and 4. Both fore- and hindfeet are oedematous in the newborn. The claws are reduced and pointed and these mice do not climb well. | ||
| 000285 | B6.Cg-Rorasg + +/+ Myo5ad Bmp5se/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the staggerer spontaneous mutation (Rorasg) show a staggering gait, mild tremor, hypotonia, and small size. The cerebellar cortex of homozygous mutant mice is grossly underdeveloped with a deficiency of granule cells and Purkinje cells. The remaining granule cells migrate inward from the external layer prematurely and then degenerate. Purkinje cells are much delayed in postnatal differentiation and lack the dendritic spines on which synapses with the parallel fibers from the granule cells normally occur. Staggerer mutant mice have been used as a source of an agranulate cerebellum in a number of investigations of the composition and function of granule cells. Kopmels et al. have reported a hyperproduction of IL1 biological activity and mRNA from LPS stimulated spleen cells of Rorasg/Rorasg mice on the C57BL/6J background relative to wild type siblings.
In this congenic strain the staggerer mutation is maintain ..... | ||
| 001176 | B6.Cg-Rw/J | Cryopreserved - Ready for recovery |
| Rump-white is a dominant lethal mutation from which homozygotes die in utero around embryonic day 9.5. From the earliest developmental stage assessed, E7.5, smaller size is detectable in Rw/Rw embryos. Developmental arrest is found at E7.5-E8.0 likely during or near the end of gastrulation. E7.5 embryos do not have the expanded cylindrical shape normally seen at this stage. All three germ layers form, but the mesoderm is sparse and loosely organized. A rudimentary notochordal plate can be detected in some of the larger mutant embryos by E9.5. Resorption of necrotic mutant embryos appears to be underway at this point. (Searle and Truslove, 1970; Bucan et al., 1995.) Rump-white heterozygotes have hypopigmentation in the front digits and hindquarters including white hindlegs, white tail with the tip often pigmented, and a variable degree of white in the sacral and lumbar regions with the ventral area more consistently affected than the dorsal area. At E10.5 a norma ..... | ||
| 006922 | B6.Cg-Sfpi1tm2Dgt/J | Cryopreserved - Ready for recovery |
| Mice that are homozygous for this "PU.1F" conditional allele are viable and fertile. When PU.1F mice are bred to mice expressing Cre recombinase, exons 4-5 of the targeted gene are deleted in the cre-expressing tissues in the offspring. These mice may be useful in studying T cell lymphoma, AML and other cancers, as well as transcription factors, hematopoiesis, and the development of multiple cell lineages. For example, when PU.1F mice are crossed with mice expressing the interferon- or dsRNA-inducible Mx1-cre transgenic mice (see Stock No. 003556), this mutant mouse strain may be useful in studies of hematopoietic stem cells. NOTE: Despite these mice being backcrossed onto the C57BL/6 genetic background, occasional albino pups may be observed. The donating investigator confirms this observation and suggests the targeted mutation may have an as of yet uncharacterized effect upon coat color ..... | ||
| 013717 | B6.Cg-Slc20a1tm1.2Cmg/J | Cryopreserved - Ready for recovery |
| A targeting vector was designed to remove exons 3-4 of the solute carrier family 20, member 1 (Slc20a1 or inorganic phosphate transporter-1 PiT-1) gene, in the epiblast, yolk sac mesoderm, and amnion, abolishing gene function. Mice that are heterozygous for this PiT-1Δe3,4 allele are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities, while homozygotes display an embryonic lethal phenotype. PiT-1, a ubiquitously expressed transmembrane type III sodium-dependent transporter, is associated with vascular calcification in many diseases, including diabetes, chronic kidney disease (CKD), and Werner Syndrome. The yolk sacs of homozygous embryos reveal a decrease in the superficial vasculature and appear severely anemic by E10.5. By E12.5, the embryos display significant growth retardation and anemia, leading to hypoxia, nutrient deprivation, growth arrest, and lethality. These homozygous PiT-1& ..... For more information please see the full phenotype on the strain data sheet | ||
| 000567 | B6.Cg-T2J +/+ Qkqk-v/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the quaking spontaneous mutation (Qkqk) have marked rapid tremor which disappears when they are at rest but increases during locomotion. The tremor in homozygous mutant mice begins at about 10 days and is fully developed by 3 weeks. Mature mice may have seizures in which a motionless posture is maintained for many seconds. Females are viable and fertile, males are sterile due to defective spermatic differentiation. The entire CNS of quaking mutant mice is severely deficient in myelin and there is a less severe myelin deficiency in the PNS. In this strain the brachyury 2 Jackson mutation (T2J) is maintained in repulsion with the quaking mutation. | ||
| 001015 | B6.Cg-T4Or/J | Cryopreserved - Ready for recovery |
| 006200 | B6.Cg-Tnks2tm1.1Yjc/J | Cryopreserved - Ready for recovery |
| Mice that are homozygous for the targeted mutation are viable and fertile. No gene product (mRNA) is detected by RT-PCR analysis of activated spleen lymphocytes. While neither telomere shortening nor chromosomal abnormalities (even across multiple generations) are observed, homozygous mice have significantly decreased body weight. These mutant mice may be useful in studies of both telomerase function and telomerase-independent pathways which affect development and metabolism. | ||
| 007484 | B6.Cg-Tyrc-2J Tg(Tyr)3412ARpw Tg(Sry-EGFP)92Ei/EiJ | Cryopreserved - Ready for recovery |
| On an albino background the X-linked transgene Tg(Tyr)3412ARpw permits visual identification of XX versus XY as early as embryonic day 10.5. This strain is segregating for Tg(Tyr)3412ARpw and homozygous for Tyrc-2J so the individuals not carrying Tg(Tyr3412)ARpw are albino. Because Tg(Tyr)3412ARpw inserted into the X Chromosome, breeding a carrier male with a noncarrier (wild-type) female results in embryos in which all XX individuals develop eye pigment, due to the Tg(Tyr)3412ARpw inherited from their father, while all XY individuals have non-pigmented eyes, having inherited a wild-type X Chromosome from their mother.
This strain also carries Tg(SryEGFP)92Ei. This reporter transgene consists of a 5 prime regulatory segment of the Sry gene driving EGFP. This transgene is expressed in the pre-support cell lineage (pre-sertoli and pre-granulosa cells) of the fetal genital ridge (Albrecht and Eicher, 2001) and in discrete areas the adult male but not female br ..... | ||
| 000104 | B6.Cg-Tyrc-h/J | Cryopreserved - Ready for recovery |
| 000518 | B6.Cg-Usp14ax-J/J | Cryopreserved - Ready for recovery |
| The first outward sign of homozygosity for the recessive mutation Usp14ax-J is an unsteady gait, particularly in the hind quarters, that can be detected by approximately 2 weeks of age. These pups often show difficulty in righting themselves when turned on their backs. They have a rapid tremor that is most apparent when they are active. Extensor paralysis progresses and wasting of the hind quarters ensues until the hind quarters are not functional and the mouse can not sit upright or move except through the use of onlyits front limbs. Although death is premature, viability in the first two to three weeks is not diminished. At 18 days of age these mutants weigh an average of 15% less than wildtype controls and by 45 days this difference is increased such that they weigh 50-60% less than wildtype controls. Homozygotes do not breed. The lumbar vertebrae are slightly shorter than normal with shorter spinous processes and more elongate foramen. These homozygotes have defec ..... For more information please see the full phenotype on the strain data sheet | ||
| 000981 | B6.Cg-Ve/J | Cryopreserved - Ready for recovery |
| Velvet heterozygotes have a ruffled, silky coat, which is especially easy to classify on the ventral surface. Their vibrissae are straggly and can be classified by 10 days of age. Homozygotes die in utero and show ectodermal and endodermal defects as early as embryonic day 6.5. | ||
| 004039 | B6.Cg-Zp1tm1Dean/J | Cryopreserved - Ready for recovery |
| Mice that are homozygous null for the Zp1 gene are viable, normal in size and do not display any gross physical or behavioral abnormalities. No Zp1 gene product (mRNA or protein) is detected. The zona pellucida matrix from homozygous females appears loosely organized resulting in structural abnormalities and perturbation of normal folliculogenesis. Consequently, litters borne from homozygous females are significantly smaller. | ||
| 007757 | B6.Cg-hml/J | Cryopreserved - Ready for recovery |
| Homozygotes have a faith-to-thrive phenotype such that they have a smaller body size and unbalanced gait detectable at 10 days of age. Those that survive to 2 months of age can generally live up to 18 months. The inner ear has extensive hypoplasia of the membranous labyrinth, a rudimentary tectorial membrane, and enlarged scala vestibuli and severe hearing loss or complete deafness are found at 19 days of age both by failed response to sounds and auditory brainstem response analysis. Homozygotes also fail to orient in water. | ||
| 006229 | B6.Cg-Tg(DRE-lacZ)2Gswz/J | Cryopreserved - Ready for recovery |
| Hemizygous mice are viable, fertile, normal in size, and do not display any behavioral abnormalities. Following adult or in utero exposure with xenobiotic ligands (including 2,3,7,8-tetrachlorodibenzo-p-dioxin (TCDD) and polychlorinated biphenyls (PCBs)), lacZ expression is induced in tissues targeted by the toxic compounds; for example, embryonic tissues expressing beta-galactosidase following TCDD treatment in utero include hard and soft palates, genital tubercle, certain facial regions, shoulder, and other tissues). These mice may be useful in studies of toxicology, teratogenic and xenobiotic processes, Per-Arnt-Sim transcription factors, cleft-palate, and as a reporter strain to indicate the temporal and spatial context of transcriptionally active aryl hydrocarbon receptors following agonist exposure in vivo. | ||
| 010914 | B6.Cg-Tg(Emu-TXLNA)1Amjr/J | Cryopreserved - Ready for recovery |
| Mice harboring the pEμSR-IL-14α transgene are viable and fertile, with expression of hemagglutinin-tagged human IL-14α (TXLNA or taxilin alpha) directed predominantly to the B lymphocyte compartment by the Eμ immunoglobulin heavy chain enhancer/SV40 promoter regions (from the pEμSR vector). Human IL-14α expression levels from the transgene are similar to mouse IL-14α expression levels observed in activated T cells/B cells. Transgene expression results in a phenotype with characteristics of systemic lupus erythematosus (SLE) and Sjogren's syndrome. Specifically, transgenic mice exhibit hypergammaglobulinemia (enhanced responses to T-dependent and T-independent antigens), autoantibodies, sialadenitis (infiltration of the parotid glands with lymphocytes), and mild immune-complex mediated nephritis with glomerular IgM deposition. In addition, almost all aged IL-14α-transgenic mice develop large B cell lymphoma (CD5+ B cell lymphoma) similar to ..... For more information please see the full phenotype on the strain data sheet | ||
| 006663 | B6.Cg-Tg(Eno2-cre)39Jme/J | Cryopreserved - Ready for recovery |
| Mice hemizygous for this NSE39-Cre transgene are viable, fertile, normal in size, and do not display any gross physical or behavioral abnormalities. These NSE39-Cre mice harbor a transgenic insert consisting of the cre recombinase gene under the control of the promoter region of the rat neuron specific enolase (NSE or Eno2) gene. As such, Cre recombinase activity is directed to neurons with expression in many tissue types. When bred with mice containing a loxP-flanked sequence of interest, Cre-mediated recombination will result in deletion of the flanked genome.
Specifically, these NSE39-Cre transgenic mice may also be useful in studies of spinal muscular atrophy (SMA) along with mice harboring a conditional (floxed) Smn1 gene (see Stock No. 006138 or Stock No. 006146).
Additional SMA strains expressing cre in striated muscle are av ..... For more information please see the full phenotype on the strain data sheet | ||
| 012466 | B6.Cg-Tg(Lrrk2)6Yue/J | Cryopreserved - Ready for recovery |
| Mice hemizygous for the BAC FLAG-Lrrk2-Wt transgene are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. These mice express a wild-type mouse leucine-rich repeat kinase 2 (Lrrk2) gene directed by its endogenous promoter/enhancer regions on the BAC transgene. These BAC FLAG-Lrrk2-Wt mice "overexpress" the wildtype mouse LRRK2 protein in cerebral cortex, striatum, substantia nigra, internal capsule, and hippocampus at an approximately 6-8 fold greater level than endogenous mouse Lrrk2. Contrary to the BAC FLAG-Lrrk2-G2019S Parkinson's disease mice, these mice have enhanced evoked dopamine release in the striatum and exhibit slightly increased motor activities compared to nontransgenic wild-type controls. These mice may be useful for studying normal function of LRRK2 function and the pathogenesis of Parkinson's disease. | ||
| 007176 | B6.Cg-Tg(Pax8-rtTA2S*M2)1Koes/J | Cryopreserved - Ready for recovery |
| Transgenic Pax8-rtTA mice are viable and fertile. These mice express an optimized reverse tetracycline-controlled transactivator (rtTA2S-M2) protein under the control of the murine Pax8 promoter, which directs expression to proximal and distal tubules and the collecting duct system of both embryonic and adult kidney. The rtTA2S-M2 variant of rtTA contains five amino acid changes in the TetR moiety (S12G, E19G, A56P, D148E, and H179R) and a synthetic optimized transactivating domain, resulting in reduced basal activity and enhanced doxycycline sensitivity compared to wild-type rtTA. When mated to a second strain carrying a gene of interest under the regulatory control of a tetracycline-responsive promoter element (TRE or tetO), expression of the target gene in kidney cells is induced with administration of the tetracycline analog, doxycycline (dox). These Pax8-rtTA mice provide a Tet-On tool that allows the inducible expression of genes in renal tubular epithelial ..... For more information please see the full phenotype on the strain data sheet | ||
| 006438 | B6.Cg-Tg(Scgb1a1-Scnn1b)6608Bouc/J | Cryopreserved - Ready for recovery |
| These Scnn1b-transgenic mice overexpress the mouse nonvoltage-gated 1 beta, Scnn1b, under the direction of the rat secretoglobin, family 1A, member 1 (uteroglobin; Clara cell secretory protein) promoter. While the donating investigator reports that most hemizygous transgenic mice (80-90%) survive past postnatal day 14, hemizygous mice at The Jackson Laboratory exhibit an approximately 40% survival rate to weaning age. Hemizygous mice that do not survive die from airway obstruction asphyxia. Mice exhibit chronic inflammation with neutrophil infiltration, chronic mucus hypersecretion and emphysema. These Scnn1b-transgenic mice may be useful in studies of cystic fibrosis, and are available on different genetic backgrounds such as B6;C3H mixed (Stock No. 005315), B6C3Fe hybrid (Stock No. 006176), and C57BL6-congenic (Stock No. 006438).
In an attempt to offer alle ..... | ||
| 006232 | B6.Cg-Tg(Scgb1a1-rtTA)1Jaw/J | Cryopreserved - Ready for recovery |
| Mice hemizygous for the CCSP-rtTA transgene are viable, fertile, normal in size, and do not display any gross physical or behavioral abnormalities. These transgenic mice express the reverse tetracycline-controlled transactivator (rtTA) protein under the control of the rat Scgb1a1, secretoglobin, family 1A, member 1 (uteroglobin), gene promoter. rtTA activity detected in bronchial and type II epithelial cells of lung tissue from adult transgenic mice and in embryos from pregnant females treated with the tetracycline analog doxycycline (dox). In the latter, rtTA-induced expression of a luciferase reporter under the regulation of a tetracycline-responsive promoter (TRE; tetO) has been detected as early as embryonic day 12.5. When hemizygotes are mated to a second transgenic strain carrying a gene of interest under the regulatory control of a TRE, expression of the target gene in the bitransgenic offspring can be regulated by dox; in the presence of dox, transcription of the target ..... For more information please see the full phenotype on the strain data sheet | ||
| 012597 | B6.Cg-Tg(Thy1-COL25A1)861Yfu/J | Cryopreserved - Ready for recovery |
| Mice hemizygous for the Thy1-COL25A1 allele are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. Collagen XXV alpha 1 (COL25A1), also known as collagen-like Alzheimer's amyloid plaque component precursor, is a type II transmembrane protein expressed in neurons that colocalizes with Amyloid β (Aβ) in senile plaques in the brains of Alzheimer's patients. In the Thy1-COL25A1 mouse, overexpression of human COL25A1 is regulated by a murine Thy1.2 promoter (Thy1), which leads to expression in the cortex and the hippocampus. This overexpression results in accumulation of Aβ and increased levels of p35/p25 and β-site APP-cleaving enzyme 1 (BACE1), which may induce synaptic dysfunction leading to the behavioral changes associated with Alzheimer's Disease. COL25A1 precursor is expressed in cell membranes of cortical neurons, in 2 month old mice. At 6 months, COL25A1 precursor was expressed in t ..... For more information please see the full phenotype on the strain data sheet | ||
| 009611 | B6.Cg-Tg(Thy1-Nlgn1)6Hnes/J | Cryopreserved - Ready for recovery |
| Mice hemizygous for the TgNL1 transgene are viable and fertile. The TgNL1 transgene encodes a hemagglutinin-tagged mouse neuroligin 1 (Nlgn1 or NL1) gene driven by the murine Thy1.2 expression cassette. HA-NL1 transcript and protein is expressed in brain and to a lesser extend in spinal cord, with highest levels of expression in the cortex and hippocampus, intermediate in the striatum and lowest in the cerebellum and olfactory bulb. TgNL1.6 mice have moderate to high levels of HA-NL1 expression (approximately two-fold greater than wildtype NL1). This overexpression results in significant deficits in memory acquisition, impairments in the induction of long-term potentiation, altered spine morphology, and enhanced excitatory synaptic transmission that lead to learning deficits. These TgNL1.6 mice may be useful in neurobiological studies of neuroligin adhesion molecules in excitatory/inhibitory synapse maturation and function, memory formation and synaptic plasticity. | ||
| 009612 | B6.Cg-Tg(Thy1-Nlgn2)6Hnes/J | Cryopreserved - Ready for recovery |
| Mice hemizygous for the TgNL2 transgene are viable and fertile, but hemizygous females are poor mothers. The TgNL2 transgene encodes a hemagglutinin-tagged rat neuroligin 2 (Nlgn2 or NL2) gene driven by the murine Thy1.2 expression cassette. HA-NL2 transcript and protein is expressed throughout the neuroaxis in neuronal cells (high levels in cortex and limbic structures such as amygdala and hippocampus) and is predominantly localized to inhibitory synaptic contacts. TgNL2.6 mice have moderate to high levels of HA-NL2 expression (approximately 1.6-fold greater than wildtype NL2). This overexpression leads to reduced lifespan and body weight, and induces aberrant synapse maturation and altered neuronal excitability that lead to behavioral deficits. Specifically, TgNL2.6 mice manifest disorders reminiscent of autism and/or Rett syndrome; jumping stereotypies, limb clasping, anxiety, and impaired social interactions. Transgenic mice also exhibit Straub tail, transient episodes of ..... For more information please see the full phenotype on the strain data sheet | ||
| 013196 | B6.Cg-Tg(Tie2-B4galnt2)1108Dgi/J | Cryopreserved - Ready for recovery |
| Tie2-B4galnt2 transgenic mice have beta-1,4-N-acetyl-galactosaminyl transferase 2 (B4galnt2) expression being driven by the vascular endothelial-specific receptor tyrosine kinase (Tie2) promoter in vascular endothelial cells. Hemizygous mice are viable, fertile, and normal in size. These mice exhibit lower plasma von Willebrand factor (VWF) levels and prolonged bleeding time characteristic of RIIIS/J mice (Stock No. 000683), which contain a modified VWF (Mvwf) gene. These mice may be useful for studying plasma VWF levels, cohesion and aggregation of platelets at the site of injury, bleeding, and clotting associated with human von Willebrand disease. | ||
| 000446 | B6.D1-Spna1sph-ha/BrkJ | Cryopreserved - Ready for recovery |
| Homozygotes provide a molecular and phenotypic model of hereditary spherocytosis type 3 and a phenotypic model for hereditary spherocytosis type 1 and some aspects of sickle cell anemia. Most phenotypic assessment has been performed using F1 homozygous offspring of heterozygotes from the C57BL/6J and WB/Re congenic strains or homozygotes generated on a B6;WB segregating background. Approximately half die by 6 months of age. Homozygotes display hemolytic anemia with spherocytosis, microcytosis, reduced hematocrit, reticulocytisis, extramedullary hematopoiesis in the spleen and liver, lymphocytosis, neutrophilia, lymph node hyperlasia, and cardiac hypertrophy. Homozygotes can be identified within the first day of birth by their jaundiced color. Consequent to the underlying disorder, homozygotes are prone to developing gallstones, pneumonitis, and vaso-occulsive disease in multiple organs. | ||
| 001623 | B6.D2-Car2n/J | Cryopreserved - Ready for recovery |
| In human, CAR2 deficiencies can result in osteopetrosis, renal tubular acidosis, impaired growth, cerebral calcification, and mental retardation. Mice homozygous for Car2<n> do not display cerebral calcification or osteopetrosis, although medial calcification of small arteries has been found in several organs, most notably the male genital tract. The phenotype of these mice includes renal tubular acidosis, doubled urine output, increased urine pH and Cl-, decreased blood pH and HCO-3, phosphatemia, lower plasma bicarbonate, and a smaller body size. Despite smaller body weight, the kidneys are of normal size and plasma potassium and creatinine levels are normal. Type A and B intercalated cells of the kidney are severely depleted. Car2n homozygotes have reduced susceptibility to audiogenic and chemogenic seizures and hippocampal slices from homozygotes are more resistant to hypoxia than are those of wild type controls. Increase ..... For more information please see the full phenotype on the strain data sheet | ||
| 000171 | B6.D2-KitW-45J/J | Cryopreserved - Ready for recovery |
| 001563 | B6.D2-KitW-73J/J | Cryopreserved - Ready for recovery |
| 000772 | B6.DW-Pou1f1dw/J | Cryopreserved - Ready for recovery |
| Mice homozygous mice for the dwarf spontaneous mutation (Pou1f1dw) are characterized by severe proportional dwarfing, sterility, and hypothyroidism. Adult dwarf mice are about one-fourth to one-third the size of wildtype mice. There is a lack of growth hormone, prolactin and thyroid stimulating hormone producing cells in the anterior pituitary leading to severe endocrine deficiency of these hormones. Homozygous mutant mice show a transient loss in cortical thymocytes associated with the primary defect in anterior pituitary. | ||
| 006576 | B6.FVB-Tg(GNAT2-Dta)98Wwk/J | Cryopreserved - Ready for recovery |
| Mice hemizygous for this "Trc-Tox176" transgene (also called "h-GNAT2pro-DTA") are viable and fertile. Expression of diphtheria toxin (DTA) from the transgene is similar to that of endogenous GNAT2, leading to ablation of both rod and cone photoreceptor development in the ventral retina (the abnormality is a result of abnormal cellular development rather than a consequence of retinal degeneration). The dorsal retina has nearly normal development of rods, but the development of cones is limited to about 10%. These transgenic mice exhibit an absence of cone photoreceptors in the retina, as well as the concomitant absence of rod photoreceptors in the ventral retina. The mice may be useful in studies of photoreceptor development, photoreceptor-related retinal diseases, and to profile photoreceptor genes in adult and in developmental stages. | ||
| 001052 | B6.L-Tbx6rv/J | Cryopreserved - Ready for recovery |
| 001177 | B6.LP-KitW-49J/J | Cryopreserved - Ready for recovery |
| 004521 | B6.PL-Nppclbab/GrsrJ | Cryopreserved - Ready for recovery |
| 001271 | B6.RBF(C3Fe)-Nek1kat/J | Cryopreserved - Ready for recovery |
| The phenotype associated with the Nek1kat-2J allele is more severe than that of the Nek1kat allele. Mice homozygous for Nek1kat-2J all die before one year of age, a third of those that survive weaning die suddenly before 100 days of age, and the reported median survival age is 211 days. Mice homozygous for Nek1kat also have a shortened life expectancy with high pre-weaning mortality and a reported median survival of 286 days, but 22% were found to survive beyond 1 year. Both mutants are runted and have blunted noses with olfactory bulbs that are approximately half the normal size and lack most of the glomerular and external granular layers. In the brain there is dilation of the lateral and third ventricles, cerebral aqueduct and fourth ventricle along with large, fluid-filled cysts in the choroid plexus. Hydrocephalus occurs. Normochromic normocytic anemia is found and is more pronounced in Nek1Kat-2J ..... For more information please see the full phenotype on the strain data sheet | ||
| 003523 | B6.ROP/Le-Os/J | Cryopreserved - Ready for recovery |
| 008723 | B6.WB-trls2J/J | Cryopreserved - Ready for recovery |
| Homozygotes display a moderate tremor and smaller body size by 2 weeks of age and progressive weakness and wasting follows leading to death by 3 to 4 weeks of age in nearly all homozygotes. | ||
| 002727 | B6;129-Ahrtm1Bra/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the Ahrtm1Bra targeted mutation are viable and fertile. Homozygotes do not respond to aryl-hydrocarbon receptor agonists. They show reduced liver weight (25% decrease) delayed extramedullary hematopoiesis, and transient hepatic microvesicular steatosis. | ||
| 008514 | B6;129-Amphtm1Pdc/J | Cryopreserved - Ready for recovery |
| In addition to ablated activity of the targeted gene, these mice show a parallel dramatic reduction in amphiphysin 2 selectivity in the brain due to its enhanced degradation in the absence of amphiphysin 1. Defects in synaptic vesicle recycling that are unmasked by stimulation suggest impairments at multiple stages of the cycle. These defects correlate with increased mortality due to rare irreversible seizures. Due to such seizures, animals die mainly between two and five months of age without other noticeable health problems. Approximately 50% of homozygotes survive to 10 months of age. Homozygotes exhibit major learning deficits as demonstrated by the Morris water maze task, and show very mild fear responses in both the context test and the auditory cue test compared to their wild-type littermates. Viable homozygotes reportedly breed until about three months of age and produce small litters of just two to three pups. | ||
| 002879 | B6;129-Apobtm2Sgy Apoetm1Unc/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the Apobtm2Sgy and Apoetm1Unc targeted mutations do not express the apolipoproteins B48 or E, they do express APOB100. Homozygotes are viable and fertile with no overt abnormalities. Compared to the APOB48 APOE deficient mice and the APOE deficient mice, they have the lowest total cholesterol (247mg/dl), lowest LDL cholesterol, and the least extensive Atherosclerotic lesions. The extent of atherosclerosis correlated significantly with plasma cholesterol levels. | ||
| 006329 | B6;129-Baxtm2Sjk Bak1tm1Thsn/J | Cryopreserved - Ready for recovery |
| Mice homozygous for both alleles (Baxfl and bak-) are viable and fertile with no reported abnormalities. Splenic and thymic tissues display no Bak1 protein expression. When bred to Cre recombinase expressing mice, the resulting offspring will have exons 2-4 of Bax deleted in the cre-expressing tissues (determined by promoter driving cre expression). The conditional deletion of Bax combined with the Bak1 null allele makes these mice useful in studies of apoptosis regulation, tissue homeostasis, and development in multiple cell lineages.
When bred to a strain with a Bak1 targeted null allele (Stock No. 004183) and to either a strain with a Cd19 null allele and expressing Cre recombinase during the B lymphocyte development (Stock No. 004126) or to a strain expressing interferon inducible Cre recombinase ( ..... | ||
| 010495 | B6;129-Bub1bGt(neo-btk)1Dai/J | Cryopreserved - Ready for recovery |
| Mice heterozygous for this mutation exhibit splenomegaly accompanied by a loss of marginal zone boundaries and an increase in mature megakaryocytes. Approximately 50% of mice have significantly reduced numbers of peripheral red blood cells, however platelet numbers are not increased. Homozygous embryos do not survive beyond early gestation (E8.5) due to impaired blastocyst proliferation and extensive apoptosis. Mouse embryonic fibroblasts from heterozygous mice exhibit defective spindle checkpoint activation, an important mechanism for genomic stability. In addition, mice are susceptible to development of lung and colon adenocarcinomas following challenge with carcinogen. Mice homozygous for the mutation are embryonic lethal. This mutant mouse strain may be useful in studies of early embryonic development, hematopoiesis, megakaryopoiesis tumorigenesis and genomic instability. | ||
| 009077 | B6;129-C3tm1Crr Man2a1tm1Jxm/J | Cryopreserved - Ready for recovery |
| 006382 | B6;129-Casktm1Sud/J | Cryopreserved - Ready for recovery |
| Homozygous floxed mice are viable and fertile, but females do not thrive. The body size of mutants is significantly smaller than littermate controls and they exhibit a slightly increased mortality. Knock-in mice are hypomorphs and protein is expressed at less than 30% of normal levels. Crossing of the floxed mutants with mice expressing cre recombinase in the male germline excises the floxed exon and a neomycin resistance gene cassette to create a complete knockout of the gene. Knockout homozygotes die within a few hours of birth. They exhibit a partially penetrant cleft palate syndrome and increased apoptosis in the thalamus, but display no other major developmental changes or deficits in basic electrical properties of their neurons.
When bred to a strain expressing Cre recombinase in the male germline (see Stock No. 003328 or 007252 for example), this mutant mouse str ..... | ||
| 003536 | B6;129-Cdk5tm1Kul/J | Cryopreserved - Ready for recovery |
| Cdk5 is an important molecule for brain development and neuronal differentiation. Cdk null mice exhibit unique lesions in the central nervous system associated with perinatal mortality. The brains of mutant mice lack cortical laminar structure and cerebellar foliation. The large neurons in the brain stem and in the spinal cord show chromatolytic changes with accumulation of neurofilament immunoreactivity. They also exhibit neuronal migration abnormalities, cerebellar defoliation, NF accumulation neuronal bodies, and degenerated motor neurons. | ||
| 004852 | B6;129-Crb1rd8/J | Cryopreserved - Ready for recovery |
| Routine ophthalmoscopic examination at 8 weeks of age revealed retinal spots predominantly in the inferior medial quadrant of the fundus, similar to those observed in Crb1rd8 mutants. The results of subsequent complementation tests and sequence analyses showed that these mutants represent the same mutation as rd8, an allele of Crb1, although the phenotypic expression observed in NMF144 is milder than that observed in Crb1rd8 mutants. Male or female mutants have been produced; the mice are fertile, and a colony can be maintained through regular breeding.
Standard pathology work-up on two mutants (69 or 109 days of age) showed bilateral retinal dysplasia in the older mutant and unilateral retinal dysplasia in the younger mutant. View strain phenotype and additional information on the Neuroscience Mutagenesis Facility web page for Crb1rd8 (Cr ..... | ||
| 004454 | B6;129-Crhr1tm1Klee/J | Cryopreserved - Ready for recovery |
| Mice that are homozygous for the targeted mutation are viable, fertile, normal in size and do not display any gross physical abnormalities. No gene product (mRNA) is detected in cerebellum tissue. No gene product receptor function is seen in treated cultured pituitary cells. Pups from homozygote crosses die within 48 hours after birth of lung dysplasia due to insufficient maternal glucocorticoid during fetal development. When corticosterone is administered by drinking water or in utero to homozygous females from embryonic day 12 through postnatal day 14, offspring have normal lung maturation. There is a reported 15% mortality in male mutant mice between 3 -12 weeks of age. Mutants have very low plasma corticosterone levels, and no diurnal rise in levels. Histological analysis reveals reduced zona fasciculata layer of the adrenal gland in mature animals. Homozygous mice display reduced anxiety response behavior. Hormonal response to stress, as measured by circulating ACTH and corticoste ..... For more information please see the full phenotype on the strain data sheet | ||
| 004604 | B6;129-Ctnna1tm1Efu/J | Cryopreserved - Ready for recovery |
| These mice possess loxP sites on either side of exon 2 of the targeted gene. Mice that are homozygous for this allele are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities.
When bred to a strain expressing Cre recombinase in the female germline (see Stock No. 003551 for example), this mutant mouse strain may be useful in studies of mammary epithelium. When bred to a strain expressing Cre recombinase in the mammary gland (see Stock No. 003552 for example), this mutant mouse strain may be useful in studies of mammary epithelium. When bred to a strain expressing Cre recombinase in the nervous system (see Stock No. 003771 for example), this mutant mouse strain may be useful in studies of the cerebral cortex and the hedgehog signalling pathway. | ||
| 004264 | B6;129-Cycstm1Wlm/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the Cycstm1Wlm targeted-mutant allele die in utero by embryonic day 10.5, but cell lines established from early Cycs-null embryos are viable under conditions that compensate for defective oxidative phosphorylation. Cells lacking cytochrome c show reduced caspase 3 activation, and are resistant to the proapoptotic effects of UV irradiation, serum withdrawal, and staurosporine. Cells lacking cytochrome c, however, do demonstrate an increased sensitivity to cell death signals triggered by tumor necrosis factor, alpha. Heterozygous mice are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. | ||
| 009688 | B6;129-Dbhtm2(Th)Rpa Thtm1Rpa/J | Cryopreserved - Ready for recovery |
| Mice heterozygous for both targeted mutations are viable and fertile. Dopamine-deficient (DA-deficient, DA-/-, or DD) mice are homozygous for the TH mutant allele and heterozygous for the DBH-TH mutant allele (Th-/-; DbhTh/+). While no expression from the TH mutant allele is observed in any tissues (resulting in deficiency of both dopamine (DA) and norepinephrine (NE)), the DBH-TH mutant allele contains the TH coding sequence under the control of the endogenous DBH promoter region and restores TH expression in noradrenergic neurons. DD mice become hypoactive and hypophagic around two weeks of age and usually die before four weeks of age. Treatment with L-DOPA, the product of TH enzymatic activity, rescues size, feeding, and life span. These DD mice may be useful in studying dopaminergic neurobiology (including neurotransmitters, addiction, feeding, learning and memory, catecholamines, and Parkinsonian phenotypes).
NOTE: Th-/ ..... | ||
| 002784 | B6;129-Dhhtm1Amc/J | Cryopreserved - Ready for recovery |
| Mice that are homozygous for the targeted mutation are viable, normal in size and do not display any gross physical or behavioral abnormalities. Homozygous male mice are sterile due to arrested spermatogenesis at the late meiosis, primary spermatocyte stage. Female homozygotes are fertile. No gene product (mRNA) was detectable by semiquantitative RT-PCR analysis of peripheral nerve. Embryonic testis development is impaired. By six weeks of age, the mass of testes from homozygous males is 90% smaller than testes from heterozygous males. Histological examination reveals a diminished number of germ cells and no mature sperm in the testis or epididymis. Peripheral nerves from mutant mice appear flattened with structurally disorganized protective sheaths. The perineural cells, glia and mesenchymal cells, develop defective tight junctions, causing the perineurium to be permeable. This mutant mouse strain may be useful in studies related to male sterility and regulation of peripheral nerve de ..... For more information please see the full phenotype on the strain data sheet | ||
| 004338 | B6;129-E2f2tm1Zubi/J | Cryopreserved - Ready for recovery |
| Mice that are homozygous for the targeted mutation are viable and normal in size. No gene product, mRNA or protein, was detected. At age 15 months mutant mice have a 27% survival rate due to diffuse autoimmune disease that resembles systemic lupus erythematosus (SLE). The phenotype includes splenomegaly by 8-12 weeks of age, glomerulonephritis, accumulated inflammatory infiltrates in the lung, liver, and skin abnormalities such as hair loss, skin wounds, erythema. Anti-dsDNA antibodies are detected in the serum. There are an increased number of mature CD8+ thymocytes and an abnormal accumulation of CD8+ Cd44high Cd69- T effector/memory cells that are autoreactive in peripheral lymphoid organs. E2F2 deficient mice appear to have normal negative selection of thymocytes but demonstrate defects in peripheral tolerance of T lymphoctes (especially Cd8+ T cells) leading to progressive autoimmune disease. This mutant mouse strain may be useful in studies of autoimmunity and may serve as model ..... For more information please see the full phenotype on the strain data sheet | ||
| 003295 | B6;129-Ednrbtm1Ywa/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the Ednrbtm1Ywa targeted mutation are viable at birth, but usually die within the first month. They show a disruption of neural crest lineage development, which is characterized by a lack of hair or skin pigmentation in 90% of their body. They die due to peritonitis from distention caused by an aganglionic megacolon. This strain may be used as a model for human Hirschsprung's disease. This mutation is allelic with the piebald lethal spontaneous mutation. | ||
| 007854 | B6;129-Erc1tm1Sud/J | Cryopreserved - Ready for recovery |
| Homozygous targeted mutation die early in embryonic development (~E9), but heterozygous animals appear normal. Detailed characterization of these mice has not been performed. These mice may be useful in studies of development. | ||
| 004161 | B6;129-Fgf7tm1Efu/J | Cryopreserved - Ready for recovery |
| Mice homozygous for this targeted allele are viable, fertile and normal in size. No Fgf7 transcript is detected. By 2 months of age, the hair coat takes on a matted/greasy appearance that becomes more prominent with age. Homozygote kidneys are markedly smaller and posses structural anomalies. Morphometric analyses indicate a reduction (~30% of wildtype) in the total number of nephrons present. Kidney development appears to be effected as early as embryonic day 16.5. This mutant mouse strain represents a model that may be useful in studies related to kidney disease. | ||
| 012820 | B6;129-Fzd1tm1.1Nat/J | Cryopreserved - Ready for recovery |
| Nuclear-localized lacZ expression replaces that of the Fzd1 (frizzled homolog 1 (Drosophila)) gene in these targeted mutation mice. No overt phenotype is observed in homozygotes, but in combination with a Fzd2 targeted mutation (see Stock No. 012821), the penetrance of the Fzd2 cleft palate phenotype is enhanced. This strain may be useful in further characterization of this receptor. | ||
| 012821 | B6;129-Fzd2tm1.1Nat/J | Cryopreserved - Ready for recovery |
| Nuclear-localized lacZ expression replaces that of the Fzd2 (frizzled homolog 2 (Drosophila)) gene in these targeted mutation mice. Approximately 50% of homozygotes reportedly die at birth from cleft palate and the remaining 50% are variably runted and do not breed well. | ||
| 012822 | B6;129-Fzd3tm1Nat/J | Cryopreserved - Ready for recovery |
| Homozygous Fzd3 (frizzled homolog 3 (Drosophila)) targeted mutation mice die at birth due to breathing difficulties which are most likely secondary to central nervous system (CNS) developmental defects. These mice show a complete loss of the thalamocortical, corticothalamic, and nigrostriatal tracts as well as the anterior commissure with variable loss of the corpus callosum. Axonal defects are apparent beginning at embryonic day 13 (E13). Peripheral nerve fibers are mostly or completely unaffected. Extensive cell death in the striatum occurs late in gestation, perhaps due to the complete absence of long-range connections. Beta galactosidase expression replaces that of the targeted gene. This strain may be useful in studies of neurodevelopment. | ||
| 008621 | B6;129-Fzd5tm1Nat/J | Cryopreserved - Ready for recovery |
| These frizzled 5 targeted mutant mice carry a beta galactosidase reporter. Heterozygous embryos show lacZ expression in the neural ridge at the anterior of the neural plate at E8.5, in the telencephalon, optic vesicle, hindgut and midgut at E10.5, and in the retinas at E16.5. Six-week-old animals express lacZ in the parafascicular nucleus and hypothalamus. Homozygous mice have placenta and yolk sac defects, thus die midway through gestation. In situ hybridization has confirmed that transcripts from the targeted gene are absent. | ||
| 012826 | B6;129-Fzd8tm1Nat/J | Cryopreserved - Ready for recovery |
| These Fzd8 (frizzled homolog 8 (Drosophila)) homozygous targeted mice show no obvious phenotype. When examined in combination with a homozygous loss of Fzd4 (see Stock No. 012823), however there is a defect in kidney development. LacZ expression replaces that of the targeted gene. This strain may be useful in studying the function of this receptor. | ||
| 002711 | B6;129-Gabrb3tm1Geh/J | Cryopreserved - Ready for recovery |
| The gamma-Aminobutyric acid type A receptors mediate the majority of rapid inhibitory synaptic transmission in the CNS. The beta3 subunit is an essential component of these receptors in many brain regions, especially during development, and is implicated in several pathophysiologic processes. The majority of mice homozygous for the Gabrb3tm1Geh mutation (or beta3-/-) die at birth with ~60% displaying cleft palate and the remaining ~35% die for unidentified reasons. Homozygous females that survive are fertile but do not care for their pups. Survivors have frequent myoclonus and occasional epileptic seizures, are hypersensitive to external stimuli and handling, have a lack of coordination and display altered responses to certain anesthesias. In addition, the observed behavioral deficits (especially regarding social behaviors) indicate that mutant mice may be a useful model of autism spectrum disorders. Of note, several strains bearing gamma-aminobutyric acid (GABA-A) ..... | ||
| 008105 | B6;129-Gatad2atm1Rnu/J | Cryopreserved - Ready for recovery |
| Homozygous targeted mutant mice die between implantation and embryonic day 12.5. There is great variability in phenotype, with some pups showing severe malformations, while others develop almost normally but arrest in development prior to their death. Virtually every organ of mutant embryos could be affected, resulting in dramatically smaller embryos and advanced stages of necrosis. Expression of the targeted gene has been assayed by Northern blot analysis of embryonic stem (ES) cells carrying the mutation and aberrant RNA was found; this is a loss of function mutation. These animals are useful in studies of development. | ||
| 004425 | B6;129-Gdf1tm1Sjl/J | Cryopreserved - Ready for recovery |
| Mice that are heterozygous for the targeted allele are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. Homozygous null mice have an embryonic and perinatal lethal phenotype, most develop past embryonic day 14.5 with two thirds dying at birth and almost all not surviving beyond 48 hours after birth. Homozygous mutant newborn mice display a range of left-right axis defects such as visceral situs inversus, right pulmonary isomerism and cardiac anomalies including abnormal positioning of the aorta and pulmonary artery, and septal defects. Spleen and lungs were malformed in some homozygotes. This mutant mouse strain represents a model that may be useful in studies of situs inversus. | ||
| 002201 | B6;129-Gja1tm1Kdr/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the Gja1tm1Kdr targeted mutation die at birth. The cause of death is a failure in pulmonary gas exchange caused by a swelling and blockage of the right ventricular outflow tract from the heart. The cardiac abnormality involves a delay in the normal looping of the ascending limb of the heart tube, which includes the right ventricle and the outflow tract. This predisposes homozygous mutant mice to malformations of the subpulmonary outflow tract and tricuspid valve. The mutation also predisposes mice to lens cataracts and causes a severe reduction of germ cell numbers in homozygous mutant mice of both sexes. Both neonatal and adult mice heterozygous for the Gja1tm1Kdr targeted mutation have slower ventricular epicardial conduction of paced beats in the heart. | ||
| 012669 | B6;129-Lrp5tm1.1Mawa/J | Cryopreserved - Ready for recovery |
| These Lrp5 (low density lipoprotein receptor-related protein 5) targeted mutation mice carry a G170V amino acid mutation that is equivalent to the G171V missense mutation reported in human patients with high bone mass. Expression of the mutant protein is detectable in whole femur mRNA at levels comparable to those of wildtype mice. Homozygotes show an abnormally high bone density. Heterozygotes also show significantly increased bone mass and strength compared to wildtype mice. This strain may be useful in studies of bone development and homeostasis. | ||
| 012670 | B6;129-Lrp5tm1Mawa/J | Cryopreserved - Ready for recovery |
| These Lrp5 (low density lipoprotein receptor-related protein 5) targeted mutation mice carry a G170V amino acid mutation that is equivalent to the G171V missense mutation reported in human patients with high bone mass. A floxed neomycin cassette was placed in intron 2 in reverse transcriptional orientation to interfere with transcription of the targeted gene and create a hypomorphic allele. Expression of the mutant protein is detectable in whole femur mRNA at substantially reduced levels as compared to those of wildtype mice. Heterozygotes have bone mass comparable to that of wildtype mice. Cre-recombinase-mediated deletion of the floxed neomycin cassette restores Lrp5 expression to wildtype levels and produces the high bone mass phenotype seen in Stock No. 012669. This strain may be useful in studies of bone development and homeostasis, particularly when conditional activation of the allele in a cell type-specific m ..... For more information please see the full phenotype on the strain data sheet | ||
| 012671 | B6;129-Lrp5tm2.1Mawa/J | Cryopreserved - Ready for recovery |
| These Lrp5 (low density lipoprotein receptor-related protein 5) targeted mutation mice carry a A213V amino acid mutation that is equivalent to the A214V missense mutation reported in human patients with high bone mass. Expression of the mutant protein is detectable in whole femur mRNA at levels comparable to those of wildtype mice. Homozygotes show an abnormally high bone density. Heterozygotes also show significantly increased bone mass and strength compared to wildtype mice. This strain may be useful in studies of bone development and homeostasis. | ||
| 012672 | B6;129-Lrp5tm2Mawa/J | Cryopreserved - Ready for recovery |
| These Lrp5 (low density lipoprotein receptor-related protein 5) targeted mutation mice carry a A213V amino acid mutation that is equivalent to the A214V missense mutation reported in human patients with high bone mass. A floxed neomycin cassette was placed in intron 2 in reverse transcriptional orientation to interfere with transcription of the targeted gene and create a hypomorphic allele. Expression of the mutant protein is detectable in whole femur mRNA at reduced levels as compared to those of wildtype mice. Heterozygotes have bone mass comparable to that of wildtype mice. Cre-recombinase-mediated deletion of the floxed neomycin cassette restores Lrp5 expression to wildtype levels and produces the high bone mass phenotype seen in Stock No. 012671. This strain may be useful in studies of bone development and homeostasis, particularly when conditional activation of the allele in a cell type-specific or temporal-spe ..... For more information please see the full phenotype on the strain data sheet | ||
| 003530 | B6;129-Ltbtm1Flv/J | Cryopreserved - Ready for recovery |
| The Ltb (lymphotoxin-beta) -deficient mice lack Peyer's patches, peripheral lymph nodes, splenic germinal centers and follicular dendritic cells. Note that this strain does have cervical and mesenteric lymph nodes, unlike Lta deficient mice. Mesenteric lymph nodes of Ltb deficient mice contain germinal center-like regions, but these areas appear to lack follicular dendritic cells. Homozygotes are viable and fertile. | ||
| 006904 | B6;129-Msctm1Eno/J | Cryopreserved - Ready for recovery |
| Mice homozygous for this MyoR mutant allele are viable and fertile with no obvious abnormalities. These mice may be useful in studying muscle development, specifically craniofacial muscles. For example, when these mice are bred with capsulin-mutant mice, the resulting double mutant offspring have significant abnormalities in craniofacial (and other) muscle development and MyoD-family transcription factor gene expression. In an attempt to offer alleles on well-characterized or multiple genetic backgrounds, alleles are frequently moved to a genetic background different from that on which an allele was first characterized. It should be noted that the phenotype could vary from that originally described. We will modify the strain description if necessary as published results become available. | ||
| 008136 | B6;129-Nlgn1tm1Bros/J | Cryopreserved - Ready for recovery |
| Mice that are homozygous for the targeted mutation are viable, normal in size and do not display any gross physical abnormalities. No gene product (protein) is detected by Western blot analysis of brain extracts from homozygous animals. This mutant mouse strain may be useful in studies of synapse formation and/or function. | ||
| 008139 | B6;129-Nlgn2tm1Bros/J | Cryopreserved - Ready for recovery |
| Mice that are homozygous for the targeted mutation are viable, normal in size and do not display any gross physical abnormalities. No gene product (protein) is detected by Western blot analysis of brain extracts from homozygous animals. This mutant mouse strain may be useful in studies of synapse formation and/or function. | ||
| 008394 | B6;129-Nlgn3tm2.1Sud/J | Cryopreserved - Ready for recovery |
| This targeted mutation strain carries a deletion of exons 2 and 3 of the gene. These mice show no alteration in their inhibitory synaptic transmission characteristics. No protein product is detected by Western blot analysis of homozygous brain extracts. Homozygotes are viable, normal in size and do not display any gross physical abnormalities. This mutant mouse strain may be useful in studies of synapse formation and/or function. | ||
| 008515 | B6;129-Pip5k1ctm1Pdc/J | Cryopreserved - Ready for recovery |
| This targeted mutation leads to a major impairment of PI(4,5)P2 synthesis primarily in brain, leading to early postnatal lethality (within 24 hours of birth). The mice also show synaptic defects, including decreased frequency of miniature currents, enhanced synaptic depression, a smaller readily releasable pool of vesicles, delayed endocytosis, and slower recycling kinetics. Homozygotes are recognizable soon after birth by their impaired motility and by the lack of milk in their stomachs, but no obvious anatomical anomalies have been observed. Lack of expression has been verified by immunoblotting of homozygous brain extracts. | ||
| 003255 | B6;129-Plp1tm1Kan/J | Cryopreserved - Ready for recovery |
| The gene for myelin proteolipid protein (Plp) lies on the X chromosome. Mice homozygous or hemizygous for the Plptm1Kan targeted mutation are viable and fertile. Although they lack expression of the PLP protein, they show no sign of motor deficits, tremors or seizures, in contrast to most naturally occurring PLP mutants. PLP is a major membrane component of CNS myelin, and many PLP mutants show defects in myelin sheath formation. However, Plptm1Kan mice do not exhibit this dysmyelination. Some ultrastructural differences are observed in the myelin of Plptm1Kan mutant mice when compared to controls, including a less distinct difference between the major dense line (MDL) and the intraperiod line (IPL), which corresponds to reduced physical stability of the myelin sheath and suggests a function of PLP in maintenance of myelin architecture. Plptm1Kan mutant mice show no evidence of myelin breakdown with age. | ||
| 004313 | B6;129-Ppt1tm1Hof/J | Cryopreserved - Ready for recovery |
| Mice that are homozygous for the targeted mutation are viable, normal in size and do not display any gross physical or behavioral abnormalities. No gene product (protein) is detected by immunoassay. Palmitoyl-protein thioesterase activity in the brain of the mutant is reduced to background levels. Although healthy at birth, by age four to five months, mutant mice display lack of grooming and an abnormal gait that progresses to hind limb paralysis. By six to eight months of age mutant mice have a low body weight and display an abnormal clasping behavior. Aggressive behavior results in fighting and dermatitis due to bite wounds. By seven months of age, mortality is 50% with very few mice surviving beyond ten months of age. Myoclonic jerks and seizures manifest at age three to four months. Strong rapid hind limb seizures ("popcorn" seizures) that propel mice several feet also occur. Brain size of the mutant mice is reduced. Histologically, mutant brains show neuronal loss and apoptosis in ..... For more information please see the full phenotype on the strain data sheet | ||
| 009072 | B6;129-Rcan1tm1Jmol/J | Cryopreserved - Ready for recovery |
| Homozygotes demonstrate an approximate 10% reduction in body weight as adults and diminished fertility as they age. Mice show a significant reduction of NFAT (nuclear factor of activated T cells) transcriptional activity that is sustained in mouse embryonic fibroblasts (MEFs) for eight hours after thapsigargin stimulation to increase intracellular Ca2+. This evidence suggests a facilitator role for the gene in efficient calcineurin-NFAT coupling. Mice are also resistant to induced cardiac hypertrophy.
CD4+ T cells of compound Rcan1/Rcan2 (Mcip1/Mcip2) targeted mutants show enhanced apoptosis. Slow/oxidative fiber-type switching is impaired in their skeletal muscle after exercise. A neurological phenotype involving increased locomotor activity and impaired working memory is also seen in the compound mutants. For more information on the Rcan2 mutation, please see Stock No. 009073). | ||
| 006099 | B6;129-Sfpi1tm1.2Dgt/J | Cryopreserved - Ready for recovery |
| Mice that are homozygous for the targeted mutation are viable, normal in size, and do not display any gross physical or behavioral abnormalities. Endogenous protein expression is unaffected by the loxP sequences flanking an upstream regulatory region (URE). When bred to mice with a cre recombinase gene under the control of a promoter of interest, the URE of the targeted gene is deleted in the tissue of interest. Deletion of this "floxed" URE may be useful in studying T cell lymphoma, AML and other cancers, as well as transcription factors, hematopoiesis, and development of multiple cell lineages. | ||
| 008614 | B6;129-Sfrp2tm1Nat/J | Cryopreserved - Ready for recovery |
| LacZ and a selectable neomycin marker replace the first coding exon of the frizzled-related protein 2 gene in this targeted mutation strain. Homozygotes exhibit mild syndactyly of the toes of the hind legs and are viable and fertile. This strain my be helpful in studies of development. | ||
| 009600 | B6;129-Six2tm3(EGFP/cre/ERT2)Amc/J | Cryopreserved - Ready for recovery |
| While heterozygous mice are viable and fertile with no reported abnormalities, homozygous mice die shortly after birth. The Six2GCE "knock-in" allele both abolishes Six2 gene function and expresses an eGFPCreERT2 fusion protein (EGFP and creERT2 fusion protein) from the Six2 promoter/enhancer elements. While EGFP immunofluorescence is observed in nephron progenitor population cap mesenchyme from the onset of metanephric kidney development, Cre-ERT2 fusion gene activity is inducible; observed in the same cells only following tamoxifen administration. As such, when Six2GCE mice are bred with mice containing loxP-flanked sequence, tamoxifen-inducible, Cre-mediated recombination will result in deletion of the floxed sequences in the Six2-expressing cells of the offspring.
The Cre-ERT2 fusion protein consists of Cre recombinase fused to a triple mutant form of the human estrogen receptor which does not bind its natural ligand ..... | ||
| 007608 | B6;129-Smad1tm1Sor/J | Cryopreserved - Ready for recovery |
| Homozygotes for the Smad1tm1Sor (also called Smad1C) allele have an embryonic lethal phenotype and do not survive past ED9.5. These mice carry a mutation (the C-terminal SSVS motif was changed to AAVA) in exon 7, which effects transcriptional activity. Homozygous embryos display posterior truncation, abnormal turning, allantois malformations (failure of the allantois to connect to the chorionic plate), anterior truncation of the head with only one brachial arch, and enlarged pericardium. At ED7.5 homozygous embryos do not have any detectable primordial germ cells. Western blot analysis of ED9.5 homozygotes showed that protein levels were not affected. Heterozygotes for this mutant allele are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. This mutant mouse strain may be useful in studies of homeostasis and BMP and MAPK signaling pathways during development and in the adult. | ||
| 007613 | B6;129-Smad1tm2Sor/J | Cryopreserved - Ready for recovery |
| Homozygotes for the Smad1tm2Sor (also called Smad1L) allele are viable and fertile, normal in size and do not display any gross physical or behavioral abnormalities. These mice carry a mutation in exon 3, which effects MAPK-mediated phosphorylation of the protein. Western blot analysis of MEFs from homozygotes showed that similar protein levels compared to wildtype. Homozygous embryos have fewer primordial germ cells than wildtype controls. Homozygous mice display abnormal gastric mucosa cell population ratios with fewer zymogenic cells and more parietal cells. The cytoskeleton of MEFs from homozygotes exhibit a loss of adhesion zippers, decreased stress fibers, and an accumulation of actin in the cortical regions with an increase in beta-catenin immunostaining localized to the cell membranes. This mutant mouse strain may be useful in studies of stomach development, gastic mucosal homeostasis and BMP and MAPK signaling pathways during development and in the adult. | ||
| 007246 | B6;129-Smn1tm2Mrph/J | Cryopreserved - Ready for recovery |
| This strain functions as a reporter strain for Smn1 (survival motor neuron 1) in the heterozygous state. Exons 1 through 8 of the mouse Smn1 gene (12.8 kb) were replaced with lacZ and an FRT site remaining from the deletion of a selection marker. This allele is a functional null and homozygous animals are embryonic lethal. Importation of this model was supported by the Spinal Muscular Atrophy Foundation. | ||
| 008890 | B6;129-Syngap1tm1Rlh/J | Cryopreserved - Ready for recovery |
| Mice that are heterozygous for the synaptic Ras GTPase activating protein 1 homolog targeted mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. Homozygotes die in the first week after birth due to severe sensory deficit. Heterozygotes show partial deficits in synaptic plasticity. No gene product (protein) is detected by Western blot analysis of the brain isolated from homozygous animals. This strain may be useful in studies of neurodevelopment, glutamate receptor trafficking and the induction of long-term potentiation (LTP). | ||
| 013074 | B6;129-Synj1tm1Pdc/J | Cryopreserved - Ready for recovery |
| Homozygous Synj1 (synaptojanin 1) targeted mutation mice exhibit neurological defects and die within approximately 24 hours of birth due to an inability to feed. Phosphatidylinositol-4,5-bisphosphate (PI(4,5)P2) levels are increased, and clathrin-coated vesicles accumulate in the area that surrounds the synaptic vesicle cluster in nerve endings. Western blot analysis demonstrates that protein is not expressed in knockout mice. This strain may be useful in studies of synaptic vesicle recycling. | ||
| 006251 | B6;129-Tor1atm1Wtd/J | Cryopreserved - Ready for recovery |
| Homozygous mutant mice have a perinatal lethal phenotype. They fail to feed or vocalize at birth, and typically die within 48 hours. No protein is detected by immunoblot analysis in tissues (liver, brain, spinal cord, mouse embryonic fibroblasts (MEFs)) from homozygous mutant animals. Microscopic and ultrastructural examination of central nervous system neurons from embryonic day 18 homozygous embryos reveals abnormalities including dysmorphic ventral horn neuron nuclei, vesicles in the neuronal nuclear envelope and enlarged endoplasmic reticulum. Neurons within homozygotes appear normal when migrating, but develop nuclear membrane abnormalities upon maturation.
In contrast to homozygous mutant mice, heterozygotes are viable, fertile, normal in size, and do not manifest any gross physical or behavioral abnormalities. Torsin A (TOR1A) protein levels in heterozygous mice are approximately 50% of wildtype levels. This mutant mouse strain may be useful in studies of torsion dystonia 1 ..... | ||
| 006495 | B6;129-Trp53bp1tm1Jc/J | Cryopreserved - Ready for recovery |
| Homozygous "53BP1"-deficient mice are viable and fertile, but exhibit retarded growth and generate reduced litter sizes. Protein from the targeted gene is not detected in the testes (by immunoblot) or in mouse embryonic fibroblasts (MEFs) (by immunofluorescence). Homozygotes are immunocompromised, hypersensitive to whole-body irradiation, and develop thymic lymphomas with higher frequency (8%) compared to wildtype by 4-7 months of age. MEFs from homozygous mutant mice have a defective DNA damage response with impaired Chk2 activation. These mutant mice may be useful in studies of the immune system, cancer, tumor suppression, and DNA damage response pathways. | ||
| 008678 | B6;129-Ubbtm1Rrk/J | Cryopreserved - Ready for recovery |
| Mice heterozygous for the targeted allele are viable and fertile. This polyubiquitin B (Ubb) mutation is characterized by a GFP-puror fusion protein "knock-in" allele that also abolishes endogenous gene function. Direct visualization of GFP fluorescence is observed in ovaries, testes, hypothalamus (arcuate nucleus) and cerebral cortex. Homozygotes have no Ubb mRNA observed in the various tissues tested, and are viable but sterile due to failure of germ cells to progress through meiotic prophase I and hypogonadism. Homozygotes also exhibit a complex metabolic phenotype initially characterized by dysfunction of neurons within the central nervous system accompanied by retarded perinatal growth that progresses to adult-onset obesity linked to selective hypothalamic neurodegeneration. Homozygotes also develop adult-onset hyperleptinemia (but normal levels of circulating glucose and insulin) as a consequence of increased fat content. These Ubb-mutant mice may be useful in studyin ..... For more information please see the full phenotype on the strain data sheet | ||
| 004693 | B6;129-Wnt7btm1Parr/J | Cryopreserved - Ready for recovery |
| Mice that are heterozygous for the targeted mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. Homozygous mice have an embryonic lethal phenotype, failing to develop past 11.5 days post coitum (d.p.c.). Placental formation is defective due to the failure of the chorion and the allantois to fuse. Morphological disorganization of the chorion is observed by 8.0-8.25 d.p.c. Integrin alpha 4 protein is not detectable in homozygous mutant chorionic cells by immunohistochemical analysis. This mutant mouse strain may be useful in studies related to the failure of chorion and allantois fusion during placental development. | ||
| 005043 | B6;129-nmf166/J | Cryopreserved - Ready for recovery |
| Routine eye examination at 12 weeks of age revealed deep anterior chambers, lens extrusion cataracts, and angle dysgenesis in NMF166 mutants (n=29 eyes examined). Standard pathology work-up on two mutants (84 or 90 days of age) revealed bilateral cataracts and retinal rosettes. Atrophic testes and a lack of sperm (sperm apoptosis in the epididymis) were also noted. Male or female mutants have been produced, although so far males have not mated successfully.
View strain phenotype and additional information on the Neuroscience Mutagenesis Facility web page for nmf166 entry. | ||
| 005323 | B6;129P2 Pemttm1J-tnyw/GrsrJ | Cryopreserved - Ready for recovery |
| Mice homozygous for the tiny wasting mutation are runted and some have abnormal locomotion or are unable to right themselves. Mutants can be identified by 2 weeks of age and most die by 3 weeks of age. All have vacuoles in the brain. | ||
| 009599 | B6;129P2-Adam19Gt(Betageo)1Bbl/J | Cryopreserved - Ready for recovery |
| Heterozygous mice are viable and fertile, while ~80% of homozygous mice die in the first few days after birth with severe heart valve defects. This β-geo secretory trap mutation abolishes endogenous gene function and expresses an ADAM19/LacZ/neo fusion protein. The mutant fusion protein has improper protein folding that keeps the ADAM19 regions of the protein retained in the endoplasmic reticulum by chaperones where they are subsequently degraded. As such, lacZ expression is directed to the same tissues as the wildtype gene. No wildtype ADAM19 protein product is observed from the targeted allele. These Adam19-mutant mice may be useful as a lacZ reporter for Adam19 expression or as a knockout model for studying developmental biology (cardiac morphogenesis). | ||
| 008590 | B6;129P2-Cxcl14tm1Litt/J | Cryopreserved - Ready for recovery |
| LacZ (expression untested) was inserted into exon one of the gene. No overt phenotype has as yet been observed. This strain may be useful in studies elucidating the role of this gene. The published literature suggests potential roles in the areas of immunology, development, and diabetes/obesity, among others. Homozygotes are viable and fertile. | ||
| 008333 | B6;129P2-Dldtm1Ptl/J | Cryopreserved - Ready for recovery |
| Mice heterozygous for the Dld (dihydrolipoamide dehydrogenase or E3 component) targeted mutation are viable and fertile. Heterozygous mice exhibit approximately half of wild-type enzymatic activity levels for E3 and all affected mitochondrial multienzyme complexes. Heterozygotes (on a C57BL/6;129P2 genetic background) exhibit increased vulnerability to treatments with MPTP (dopaminergic neurotoxin used to induce Parkinson's disease-like lesions), malonate (inhibitor of cellular respiration used to mimic Huntington's disease features), and 3-NP (mitochondrial toxin used to mimic Huntington's disease features). Homozygous mice exhibit normal development and metabolism during the preimplantation period, explained by the persistence of E3 enzyme from the oocyte. Homozygotes exhibit developmental delays shortly after implantation (7.5 to 8.5 days postcoitum (dpc)) and cease development within the subsequent two days. These Dld mutant mice may be useful to study early murine em ..... For more information please see the full phenotype on the strain data sheet | ||
| 008595 | B6;129P2-Fn1tm4Hyn/J | Cryopreserved - Ready for recovery |
| Alternatively spliced exons EIIIA and EIIIB of the fibronectin 1 (Fn1) gene are deleted in these double targeted mutant mice. Embryonic lethality with incomplete penetrance is observed in homozygotes by embryonic day 10.5. Homozygous embryos display multiple embryonic cardiovascular defects, including vascular hemorrhage, failure of remodeling embryonic and yolk sac vasculature, defective placental angiogenesis and heart defects. Synthesis and cell surface deposition of fibronectin 1 are not affected. This strain may be helpful in studies of cardiovascular development. | ||
| 007226 | B6;129P2-Has2tm1Jam/J | Cryopreserved - Ready for recovery |
| While heterozygous mice are viable and fertile, mice homozygous for this targeted allele die between embryonic day (E)9.5 and E10.5. Embryonic mRNA expression from the targeted gene shows only truncated transcripts of the expected length, with no full-length mRNA expression. Homozygous embryos exhibit severe cardiac and vascular abnormalities, lack hyaluronan (HA), and have yolk sac and somite deformities. Heart deformities can be rescued in explants from homozygous mice following exogenous HA or activated H-Ras treatment. These Has2 mutant mice may be useful in studying embryogenesis and development, specifically cardiac and vascular morphogenesis, as well as cell transformation. | ||
| 007947 | B6;129P2-He/J | Cryopreserved - Ready for recovery |
| Carriers of the helicopter ears mutation have ear pinna angled outward from the head rather than upward, smaller bodies than normal, and smaller genitals, although fertility appears unaffected. | ||
| 006712 | B6;129P2-Olfr545tm1Mom/MomJ | Cryopreserved - Ready for recovery |
| The Olfr545tm1Mom allele has a fully intact coding sequence with a tauGFP tag permitting bicistronic expression of the endogenous gene and the green fluorescent protein tag. The olfactory sensory neurons that express this tagged allele typically project to a single dorsal-medial and a single anterior-lateral glomerulus per olfactory bulb, and, when co-expressed with Tg(P-taulacZ)8Mom expression is found not to overlap. | ||
| 006713 | B6;129P2-Olfr545tm2Mom/MomJ | Cryopreserved - Ready for recovery |
| Olfactory sensory neurons that select to express Olfr545 are labeled with tauRFP | ||
| 006716 | B6;129P2-Olfr545tm4Mom/MomJ | Cryopreserved - Ready for recovery |
| With the coding sequence of class I olfactory receptor Olfr545 excised and replaced with venusYFP, this strain allows assessment of the role of a specific olfactory receptor in olfactory sensory neuron development. Mice carrying this allele display a normal pattern of labeled axons projecting diffusely to a large subset of glomeruli in the dorsal-medial and anterior-medial olfactory bulb, but also an abnormal finding of labeled axons innervating glomeruli at the caudal margins of the olfactory bulb. Co-staining for five dorsal class I olfactory receptors shows 3.8% co-expressing class I olfactory receptor genes and the disrupted Olfr545tm4Mom allele, while co-staining for five dorsal class II olfactory receptors shows no co-expression with the disrupted Olfr545tm4Mom allele. | ||
| 005833 | B6;129P2-Rgs4tm1Dgen/J | Cryopreserved - Ready for recovery |
| This targeted mutant was created and characterized by Deltagen, Inc. View phenotypic data developed by Deltagen. | ||
| 012850 | B6;129P2-TardbpGt(RRB030)Byg/J | Cryopreserved - Ready for recovery |
| Tardbp+/- mice contain a gene trap targeting vector which inserts a β-geo fusion protein into intron 2 of the endogenous TAR DNA-binding Protein 43 (Tardbp) gene, abolishing gene function. Heterozygous mice are viable, fertile, and normal in size, while homozygous mice die between E3.5 and E8.5. lacZ expression in heterozygous embryos at E9.5 is restricted to neuroepithelium and is prominent in all neural progenitors from E10.5-12.5. By E12.5 expression is seen in spinal cord progenitors, in differentiated motor neurons, and in the dorsal root ganglia. Adult Tardbp+/- mice show widespread expression in various regions of the central nervous system. These mice may be useful as a lacZ reporter for Tardbp expression in neurodegenerative disorders. | ||
| 002123 | B6;129S-Dnmt1tm1Jae/J | Cryopreserved - Ready for recovery |
| Mice homozygous for this mutation die at mid-gestation. The embryos are stunted and show a delayed development. DNA from these mice shows a reduction in the level of m5C to about 1/3 that seen in cells from normal wildtype siblings. | ||
| 003213 | B6;129S-Eportm1Liz/J | Cryopreserved - Ready for recovery |
| Mice lacking Epor died in utero at embryonic day 11 - 12.5 with severe anemia. Embryonic erythropoiesis was markedly diminished, while fetal liver hematopoiesis was blocked at the proerythroblast stage. Homozygotes are not viable. | ||
| 010539 | B6;129S-Fgf17tm1Dor/J | Cryopreserved - Ready for recovery |
| Mice that are homozygous for the targeted mutation are viable, fertile, normal in size and do not display any gross physical abnormalities. No gene product (mRNA) is detected by in situ hybridization analysis of midbrain-hindbrain from homozygous embryos. Significant portions of the inferior colliculus and the vermis cerebellum are absent in homozygotes (2 days of age and adult). The remaining midbrain and cerebellum have normal morphology although the size of the vermis cerebellum is approximately 82% of the wildtype control. The size of the rostal-most lobe of the vermis is 1/3 of the wildtype control. The fissure separating lobe III (most rostal lobe) and lobe IV does not form completely, resulting in partially fused lobes. The dorsal frontal cortex is reduced in size with a rostral shift of sensory cortical areas. Homozygotes exhibit impaired social interaction behavior. Homozygous pups vocalize less than wildtype controls when separated from mothers. Homozygous adult male ..... For more information please see the full phenotype on the strain data sheet | ||
| 004234 | B6;129S-Fgfr3tm1Dor/J | Cryopreserved - Ready for recovery |
| Approximately 50% of mice that are homozygous for the Fgfr3tm1Dor targeted mutation die between birth and 21 days of age. Surviving pups may live as long as 8 months. RNAase protection analysis of adult homozygous brain tissue indicates that an abnormal transcript may be generated, but that no functional protein results. Severe skeletal defects (kyphosis, scoliosis, crooked tails, curvature and overgrowth of long bones) are evident. Inner ear defects (lack of pillar cell differentiation and tunnel of Corti formation) resulting in profound deafness are also observed. | ||
| 006470 | B6;129S-Hopxtm1Eno/J | Cryopreserved - Ready for recovery |
| Homozygous mice are viable and fertile on this mixed genetic background. Absence of the targeted protein is confirmed in heart and brain tissues from homozygotes. The lacZ expression pattern is similar to that of the endogenous gene. Homozygous heart tissues show altered serum response factor (SRF)-associated gene expression. Mice homozygous for this null allele segregate into two phenotypic classes characterized by an excess or deficiency of cardiac myocytes. These mutant mice may be useful in studying cardiac growth and development. | ||
| 012373 | B6;129S-Hoxb1tm1(cre)Og/J | Cryopreserved - Ready for recovery |
| Mice that are heterozygous for the targeted mutation are viable, fertile, and normal in size.
The Cre recombinase expression pattern matches the endogenous gene expression pattern in heterozygous animals. Cre mediated recombination is detected in almost all tissues caudal to the hindbrain at age embryonic day 10.5 (spinal cord, peripheral nervous system, axial and appendicular musculature, and mesenchymal tissues). Mice that are homozygous for this targeted mutation allele are deficient (null) for HOXB1 and exhibit a phenotype similar to other null mutants (craniofacial defects, abnormal facial neurogenesis, facial muscle degeneration).
In an attempt to offer alleles on well-characterized or multiple genetic backgrounds, alleles are frequently moved to a genetic background different from that on which an allele was first characterized. This is the case for the strain above. It should be noted that the phenotype could vary from that originally described. We will modify ..... | ||
| 003000 | B6;129S-Ldlrtm1Her Apobtm2Sgy/J | Cryopreserved - Ready for recovery |
| This strain expresses only APO-B100 (normally expressed in the liver and yolk sac) and is deficient in low density lipoprotein receptor (Ldlrtm1Her/Ldlrtm1Her). | ||
| 010986 | B6;129S-Osr2tm1Pzg/J | Cryopreserved - Ready for recovery |
| These Osr2-RFP mutant mice express Red Fluorescent Protein from the endogenous Osr2, odd-skipped related 2 (Drosophila), locus. Strong red fluorescence is detected the head, testis and male and female genital ducts and kidneys from heterozygous E15.5 embryos. Fluorescence mimics the endogenous expression pattern. Mice that are heterozygous for the targeted mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. Homozygotes are not viable. The Donating Investigator reports that homozygotes die just after birth, most likely due to a cleft palate. This strain was transferred from the collection of the GenitoUrinary Development Molecular Anatomy Project (GUDMAP). | ||
| 003822 | B6;129S-Psen1tm1Shn/J | Cryopreserved - Ready for recovery |
| Presenilin-1 is the major gene responsible for early-onset familial Alzheimer's disease. Mice that are homozygous null for this gene die within minutes after being born. Externally, mice exhibit shortened tails that curve to the right, thickened necks, loose skin and hind limbs that curve towards the midline. Their weight is 15-20% that of wildtype. Gross skeletal malformations and central nervous system abnormalities are observed. Death presumably results from impaired respiratory mechanics due to ribcage deformities. Histological examination indicates that alveoli are marginally expanded. By embryonic day 9.5, there is a drastic reduction in neural progenitor cells. Later, the brain exhibits hemorrhages and symmetric cerebral cavitation. Cavitation occurs primarily in the ventrolateral region of the ventricular zone in the posterior portion of the brain. | ||
| 002476 | B6;129S-Ptgs2tm1Jed/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the Ptgs2tm1Jed targeted mutation exhibit significant preweaning loss of homozygotes (original publication reports 30-40%). Homozygous mutant mice show polydipsia and polyuria due to a defect in renal development. Cardiac fibrosis is evident in approximately 50% of the mice. PTGS2 deficient mice do not show altered inflammatory responses to in several tests of paw and ear edema; however, cytoxicity of hepatic cells induced by endotoxin was strikingly mitigated in these homozygotes. Female homozygotes are infertile with defects in ovulation, fertilization, implantation, and decidualization. | ||
| 003807 | B6;129S-Seletm1Hyn Selltm1Hyn Selptm1Hyn/J | Cryopreserved - Ready for recovery |
| Mice that are homozygous null for the Sele, Sell and Selp genes are viable, fertile, normal in size, and do not display any gross physical or behavioral abnormalities at birth. As mice mature, however, they become susceptible to mucocutaneous infections that eventually lead to death. No Sele, Sell or Selp gene products (mRNA or protein) are detected. Leukocytes from these mice exhibit a deficiency in the ability to interact with, and roll along, the venular wall endothelium. This deficiency in the crucial first step of leukocyte recruitment to surrounding tissues in response to infection or injury contributes to an elevated leukocyte count in the peripheral blood. Delays in neutrophil and eosinophil recruitment to the peritoneum in response to thioglycollate and ragweed allergen, respectively, have been observed, specifically. These mice are suitable for use in research applications studying leukocyte homeostasis, infectious diseases and inflam ..... For more information please see the full phenotype on the strain data sheet | ||
| 002221 | B6;129S-Twist1tm1Bhr/J | Cryopreserved - Ready for recovery |
| Homozygotes die at embryonic day 11.5. The most prominent phenotype is a failure of cranial neural tube closure. At embryonic day 8.5 the cranial neural folds are elevated but not fused. At embryonic day 9.5 exencephaly is evident (the cranial neuroepithelium is everted and exposed). There is also abnormal somite morphology and abnormal limb bud development. | ||
| 007032 | B6;129S-Wnt4tm1.1Bhr/BhrEiJ | Cryopreserved - Ready for recovery |
| This strain contains loxP sites flanking exon 2 of Wnt4 resulting in a Cre-dependent conditional null allele. Homozygotes are normal. Studies by Kobayashi et al., determined that when this conditional allele is exposed to Cre expression by Amhr2tm3(cre)Bhr Mullerian duct regression proceeds normally. | ||
| 003666 | B6;129S1-Map2k4tm1Liz/J | Cryopreserved - Ready for recovery |
| Mice that are homozygous null for the Map2k4(SEK1, JNKK, or MKK4) gene exhibit liver abnormalities and suffer lethality before embryonic day 14.5. Histological examination reveals a reduced number of hepatocytes and enlarged, hemorrhaging sinuses. The donating investigator speculates that embryo death results from anemia brought on by massive bleeding. SEK1 is an enzyme in the stress-activated MAP kinase pathway. | ||
| 004858 | B6;129S1-Tshrtm1Rmar/J | Cryopreserved - Ready for recovery |
| Mice that are homozygous for the targeted mutation exhibit delayed eye opening, are runted by day 21, and will die within 1 week if weaned at day 21. Homozygotes will survive by extending weaning to 28 days but will not reproduce. Homozygotes are viable and fertile when weaned at day 21 and subsequently placed on a hormone replacement therapy diet consisting of a 100ppm desiccated thyroid powder supplement. No gene product (mRNA or protein) is detected by RT-PCR or Western blot analysis of thyroid membranes. Enhanced Green Fluorescent Protein (EGFP) gene product is detected by RT-PCR and Western blot analysis of thyroid tissue. Hypothyroidism is exhibited by mutant mice that have a longer weaning period and a non-supplemented diet, as indicated by low T4 and T3 serum levels, and high thyrotropin (TSH) serum levels. Treatment with exogenous TSH does not result in a thyroid hormone release response. Mutant mice produce uniodinated thyroglobulin and do not accumulate radioactive iodide in ..... For more information please see the full phenotype on the strain data sheet | ||
| 004715 | B6;129S1-Wnt7atm1Amc/J | Cryopreserved - Ready for recovery |
| Mice that are homozygous for the targeted mutation are viable, but sterile. A truncated mRNA transcript is detected during embryogenesis. Homozygotes exhibit ventralization of dorsal limb mesoderm tissues. The variable phenotype includes thickening of dorsal limb dermus, loss of dorsal hair on digits and abnormal or missing posterior distal digits. Abnormalities are more severe distally than proximally. Homozygous female mice have functioning ovaries, but are sterile due to abnormal development of the oviduct and uterus. Although homozygous male mice have normal spermatogenesis, Mullerian ducts do not regress resulting in blocked sperm passage. Mutant mice have reduced synapsin I levels and delayed synaptogenesis between cerebellar granule cells and mossy fiber neurons. This mutant mouse strain may be useful in studies related to dorsal-ventral and anterior-posterior patterning and axonal remodeling. | ||
| 002265 | B6;129S2-Bcl2tm1Sjk/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the Bcl2tm1Sjk targeted mutation appear normal at birth; however, growth retardation is evident by one week of age with considerable heterogeneity in weight compared to normal wildtype siblings (30% to 90%). There is some pre-weaning loss. Homozygotes succumb to renal failure as a result of polycystic kidney disease. Hematopoiesis, including lymphocyte differentiation is initially normal but the thymus and spleen decrease in size due to increased apoptosis. The coat color of homozygotes turns grey with the second hair follicle cycle. | ||
| 002537 | B6;129S2-Ccnd1tm1Wbg/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the targeted mutation develop to term but show growth retardation that is most pronounced by three weeks of age. The majority of mutant mice die early in life, often within the first month. Survivors continue to show lower than average weight and increased mortality. Mammary gland epithelial duct development is normal in virgin mutant mice. Mutant females that survive to adulthood are fertile, but mammary glands of pregnant mice show a dramatic impairment in the expansion of alveolar lobes and mice are unable to lactate. Steroid hormone levels are normal, and there is no apparent defect in estrogen receptor number, suggesting that cyclin D1 deficiency has an effect on the target tissue directly. Mutant mice demonstrate a neurological abnormality evidenced by limb retraction when lifted by their tails. The most severely affected animals remain in a clasped, flexed position for a few seconds after they have been returned to their cage. Retinal abnormalities include a ..... For more information please see the full phenotype on the strain data sheet | ||
| 002473 | B6;129S2-Cdh1tm1Kem/J | Cryopreserved - Ready for recovery |
| Mice homozygous for this targeted mutation tend to die at the time of implantation. Preimplantation embryos immunostain positive for the endogenous gene product and undergo compaction, but this results not from endogenous expression, but from residual maternal Cdh-1. By embryonic day 4.5 the homozygous null embryos exhibit greatly diminished cell-cell contact and fail to form a trophectodermal epithelium or a blastocyst cavity. Heterozygous mutant mice are viable and fertile with no grossly observable defects. | ||
| 002494 | B6;129S2-Cgatm1Sac/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the Cgatm1Sac targeted mutation are viable but both sexes are infertile. They lack TSH, LH, and FSH. Homozygous mutant mice are hypogonadal and exhibit severe hypothyroidism resulting in dwarfism. Development of the thyroid gland was arrested in late gestation. However, gonadotropin releasing hormone (GNRH) neuron migration, development of secondary sex organs, and fetal and neonatal gonadal development are normal. Mice heterozygous for the Cgatm1Sac targeted mutation appear normal. | ||
| 002783 | B6;129S2-Crhtm1Maj/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the Crhtm1Maj targeted mutation are viable and fertile. Pups born to homozygous mothers must be supplemented with corticosterone in the drinking water (10-30ug/ml) from day 12 of gestation until weaning. Homozygous mutant mice have reduced adrenocortical secretion following stress. They may be susceptible to complications from hypoglycemia when fasting. Heterozygous mice are phenotypically indistinguishable from wildtype siblings. | ||
| 002657 | B6;129S2-En2tm1Alj/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the En2tm1Alj targeted mutation are viable but show defects in adult cerebellar foliation patterning. Development is also delayed in areas of the brain with abnormal formation of specific fissures. The posterior region of the cerebellum is most severely affected. Both homozygotes and heterozygotes show an impairment in motor learning compared to wildtype littermates with the homozygotes improving the least in the rotating rod motor learning paradigm. | ||
| 008190 | B6;129S2-Nf2tm1Tyj/J | Cryopreserved - Ready for recovery |
| Most embryos that are homozygous for this targeted mutation fail between embryonic days 6.5 and 7.0, exhibiting a collapsed extraembryonic region and the absence of organized extraembryonic ectoderm. The embryo proper continues to develop, but fails to initiate gastrulation. Heterozygotes develop a variety of malignant tumors over the course of 10-30 months, including osteosarcoma (63%), lymphoma (15%), lung adenocarcinoma (10%), hepatocellular carcinoma (9%), and fibrosarcoma (9%). A high rate of metastasis to distant sites such as the lung and liver was found. Schwannomas, meningiomas and ependymomas were not detected. RT-PCR analysis and sequencing of the product have shown that a mutant form of mRNA is transcribed and spliced. Immunoblotting fails to detect any full-length or shortened protein products, however. This strain may be useful in studies of embryonic development and cancer. | ||
| 008178 | B6;129S2-Rbl1tm1Tyj/J | Cryopreserved - Ready for recovery |
| Mice homozygous for this targeted mutation are viable and fertile and do not display any gross physical or behavioral abnormalities in this genetic background. No gross phenotype has been observed in these mice, as yet. This strain may be useful in studies of development and cancer. | ||
| 008176 | B6;129S2-Rbl2tm1Tyj/J | Cryopreserved - Ready for recovery |
| Mice homozygous for this targeted mutation are viable and fertile and do not display any gross physical or behavioral abnormalities in this genetic background. No histologic abnormalities have been detected at birth or 2 months of age. The amount of mRNA in liver cells is reduced 5-fold. No protein of normal size is detected by Western blot analysis of mouse embryonic fibroblasts which also show normal growth characteristics in culture. A very small amount of a truncated form of the protein has been detected by immunoprecipitation and western blot analysis. This shorter form of p130 may come from alternative splicing. It is not known if this truncated form has any activity or not. This strain may be useful in studies of limb development or cancer. | ||
| 002916 | B6;129S2-Seletm1Hyn Selptm1Hyn/J | Cryopreserved - Ready for recovery |
| Mice homozygous for both the Seletm1Hyn Selptm1Hyn mutations are viable and fertile. They are characterized by leukocytosis, spontaneous bacterial infections, dermatitis and defective leukocyte recruitment in many models of inflammation. | ||
| 002273 | B6;129S2-Tlx1tm1Sjk/J | Cryopreserved - Ready for recovery |
| 008191 | B6;129S2-Trp53tm1Tyj Nf1tm1Tyj/J | Cryopreserved - Ready for recovery |
| These mice carry Trp53 and Nf1 targeted mutations (in cis) on chromosome 11. These mutations are approximately 10 Mbp apart and may segregate independently of one another. Double homozygotes are embryonic lethal. Double heterozygotes survive an average of five months and exhibit a significant increase in the percentage of soft tissue sarcomas compared with mice of other genotypes (Nf1 +/-, 5%; p53, 57%; Nf1/Trp53 trans, 36%; Nf1/Trp53 cis, 81%). Furthermore, although Nf1/Trp53 trans mice exclusively develop osteo-, fibro-, rhabdomyo-, and hemangiosarcomas, about 30% of tumors from the Nf1/Trp53 cis animals stain positively for S100 (consistent with glial cell origin) and exhibit classic histological features of malignant peripheral nerve sheath tumors (MPNSTs). This strain may be useful in studies of astrocytomas/glioblastomas and tumor suppressor genes. | ||
| 007202 | B6;129S4-5830428H23RikGt(ROSA)76Sor/J | Cryopreserved - Ready for recovery |
| At age E11.5 to E18.5, homozygous embryos exhibit hemorrhages and microaneurisms. Vascular defects persist into adulthood. At six weeks of age, mice are anemic (low hemoglobin concentration, red blood cell count, hematocrit). These mice also exhibit polychromasia (abnormally high number of immature blood cells); kidney defects (abnormally high blood urea nitrogen level, kidney size smaller than wild-type, swollen blood filled glomeruli, reduced number of vascular smooth muscle cells in glomeruli); abnormalities in palate bone fusion and abnormal neural crest derived and thoracic skeleton development. No gene product is detected in homozygous embryos aged ED9.5-12.5 or in adult gonad. Homozygotes occur at lower than Mendelian ratio (18%) and 8% die by age one week. Surviving homozygotes and heterozygotes are viable and fertile. These Zfp826 (BC055757)-mutant mice may be useful in studying cellular signaling in development and adult mice; specifically receptor tyrosine kinases (R ..... For more information please see the full phenotype on the strain data sheet | ||
| 007204 | B6;129S4-2610005L07RikGt(ROSA)73Sor/J | Cryopreserved - Ready for recovery |
| Mice homozygous for this mutant allele (called BC058969 in the primary publication) are viable and fertile, with greater than 50% embryonic lethality observed in homozygous embryos. Homozygotes occur at a lower than Mendelian ratio (9%) from heterozygote x heterozygote crosses. No gene product is detected in homozygous embryos aged ED9.5-12.5 or in adult gonad. Homozygotes exhibit defects that affect the same cell types and processes as those controlled by the platelet-derived growth factor (PDGF) pathway, including vasculature, kidney, and skeletal defects (sternum and calvarial bones). Notably, 100% incidence of calvarial bones defects is reported. Additionally, homozygotes are reported to have low β-galactosidase activity; in situ hybridization or other sensitive methods may be necessary to detect expression of the lacZ-neo reporter fusion gene. These BC058969-mutant (2610005L07Rik-mutant) mice may be useful in studying cellular signal ..... For more information please see the full phenotype on the strain data sheet | ||
| 007200 | B6;129S4-Arid5bGt(ROSA)75Sor/J | Cryopreserved - Ready for recovery |
| Mice homozygous for this mutant allele have reduced size and weight gains after birth, occur at lower than Mendelian ratio (16%) and 46% die within three weeks of age. Homozygotes are fertile when they survive to adulthood. Heterozygotes are viable and fertile. No gene product is detected in homozygous embryos aged ED9.5-12.5 or in adult gonad. Homozygotes exhibit kidney defects (abnormally high blood urea nitrogen level, mutant kidney size smaller than wildtype, swollen blood filled glomeruli, reduced number of vascular smooth muscle cells in glomeruli), and abnormalities in palate bone fusion. These Arid5b-mutant mice may be useful in studying cellular signaling in development and adult mice; specifically receptor tyrosine kinases (RTK; such as Ras, MAP kinase, PI3K and those in the platelet-derived growth factor (PDGF) family) and immediate early genes (IEG) induced shortly after RTK activation. | ||
| 002495 | B6;129S4-Col1a1tm1Jae/J | Cryopreserved - Ready for recovery |
| Homozygous mice are viable and develop to young adulthood without obvious differences from wildtype mice. As the mice age they develop fibrosis in the dermis characterized by a thickening and roughening of the skin, which is similar to that seen in human scleroderma. Homozygous females develop postpartum abnormalities of the uterus caused by a failure of collagen resorption. They have slightly reduced litter sizes and significantly fewer litters than normal wildtype mice. A secondary collagenase cleavage site was found in the mutant protein that could be cleaved by rat collagenase but not by human collagenase. | ||
| 007208 | B6;129S4-Csrnp1Gt(ROSA)80Sor/J | Cryopreserved - Ready for recovery |
| Mice homozygous for this mutant allele are viable and fertile, with some incidence of perinatal lethality before two weeks of age (the Donating Investigator reports 18% of homozygotes die by two weeks of age). Homozygotes have abnormalities in palate bone fusion. Homozygotes exhibit defects that affect the same cell types and processes as those controlled by the platelet-derived growth factor (PDGF) pathway, including vasculature, kidney, and skeletal defects. These mutant mice may be useful in studying cellular signaling in development and adult mice; specifically receptor tyrosine kinases (RTK; such as Ras, MAP kinase, PI3K and those in the platelet-derived growth factor (PDGF) family) and immediate early genes (IEG) induced shortly after RTK activation. | ||
| 011054 | B6;129S4-Ctbp1tm1Sor/J | Cryopreserved - Ready for recovery |
| Mice that are heterozygous for the targeted mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. Homozygotes are 30% smaller than wildtype littermates and approximately 23% of homozygous mice die by 20 days of age. Although surviving homozygotes are fertile, they do not breed well. No gene product (protein) is detected by Western blot analysis of homozygous embryos. | ||
| 011052 | B6;129S4-Ctbp2Gt(ROSA61)Sor/J | Cryopreserved - Ready for recovery |
| Mice that are heterozygous for the gene trap mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. Homozygotes have an embryonic lethal phenotype, failing to survive past embryonic day 10.5. No gene product (protein) is detected by Western blot analysis of homozygous embryos. Homozygous embryos exhibit extraembryonic vasculature defects, small size, axial truncations, delayed forebrain and midbrain development, dilated pericardium and abnormal heart development. Beta-galactosidase expression and staining mimics the expected endogenous gene expression pattern. | ||
| 007843 | B6;129S4-Efnb2tm2Sor/J | Cryopreserved - Ready for recovery |
| These mice express the histone 2B and Green fluorescent protein, H2BGFP, fusion gene under the control of the endogenous Efnb2 promoter. Homozygotes die at E10.5 due to cardiovascular defects. Homozygous embryos exhibit defects in cardiovascular and somite development, cranial and trunk neural crest cell populations. These mutant mice may be useful in studies of embryonic development. | ||
| 007672 | B6;129S4-Man1a2tm1.1Ahe/J | Cryopreserved - Ready for recovery |
| Mice that are heterozygous for the targeted mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. Homozygous mice have a perinatal lethal phenotype and die within hours of birth due to respiratory distress (cyanosis and alveolar hemorrhage). No gene product (mRNA) is detected by RT-PCR analysis of total RNA from homozygous embryonic tissues. At embryonic day 18.5 homozygous embryos exhibit reduced alveolar air space, thickened alveolar walls, small atelectactic areas and delayed lung development. This mutant mouse strain may be useful in studies of lung development and pulmonary physiology. | ||
| 002850 | B6;129S4-Nfkbiatm1Bal/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the Nfkbiatm1Bal mutation are runted, and have granulocytosis as well as abnormalities in epithelial keratinization. Neonates die at around 8 days of age. | ||
| 007201 | B6;129S4-Plekha1Gt(ROSA)82Sor/J | Cryopreserved - Ready for recovery |
| 25% of homozygotes die by 2 weeks of age. Homozygous males are infertile and, after 3 weeks of age, exhibit higher than normal (wildtype) weight gain. No gene product is detected in homozygous embryos aged ED9.5-12.5 or in adult gonad. These Plekha1-mutant mice may be useful in studying cellular signaling in development and adult mice; specifically receptor tyrosine kinases (RTK; such as Ras, MAP kinase, PI3K and those in the platelet-derived growth factor (PDGF) family) and immediate early genes (IEG) induced shortly after RTK activation. | ||
| 008204 | B6;129S4-Pou5f1tm1Jae/J | Cryopreserved - Ready for recovery |
| Mice heterozygous for this Oct4-neo mutation are viable and fertile, harboring an IRES-GFPneo fusion cassette downstream of exon 5 of the Oct4 (Pou5f1) gene. The donating investigator reports (and attempts at The Jackson Laboratory confirm) no living homozygous animals are born. While sufficient neomycin-resistance activity is observed in embryonic stem cells, no visible GFP fluorescence is reported. When treated with specific transcription factors (Oct4, Sox2, c-Myc and Klf4), some Oct4-neo murine embryonic fibroblasts (MEFs) have the properties of induced pluripotent stem (iPS) cells. Such iPS cells have the DNA methylation, gene expression and chromatin state of embryonic stem cells and can form viable chimeras, contribute to the germ line, and generate live late-term embryos when injected into tetraploid blastocysts. These Oct4-neo mutant mice may be useful for the selection of iPS cells (i.e. epigenetic reprogramming of somatic cells into pluripotent embryonic stem cells). ..... For more information please see the full phenotype on the strain data sheet | ||
| 008778 | B6;129S4-Prkratm1Wsmay/J | Cryopreserved - Ready for recovery |
| 002851 | B6;129S4-Relatm1Bal/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the Relatm1Bal targeted mutation die at embryonic day 14 from hepatocyte apoptosis and failure of hematopoiesis | ||
| 002430 | B6;129S4-Tal1tm1Sho/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the Tal1tm1Sho mutation die between embryonic day 9.5 and 10.5. There is a complete absence of blood formation; no hematopoietic cells could be identified by appearance, histology, colony assays, or RT-PCR for lineage-specific products. | ||
| 006238 | B6;129S4-Thbs2tm1Bst/J | Cryopreserved - Ready for recovery |
| Mice homozygous for this targeted mutation are viable and fertile. Multiple analyses has confirmed the absence of protein in embryonic and adult tissue of homozygous mice. Homozygotes exhibit skin disorders (abnormal collagen fiber patterns, reduced tensile strength, increased fragility) and skin fibroblasts have attachment defects. Mice also exhibit an increase in total density/cortical thickness of the long bones, abnormally long bleeding times, and a significant increase in blood vessel density. Homozygous mice exhibit accelerated wound healing after biopsy and accelerated/increased tumor formation following chemically-induced skin carcinogenesis. Mutant mice may be useful in studies of collagen fibrillogenesis in skin and tendons, angiogenesis and vascular pathophysiology, wound healing, chemically-induced tumor progression, and as a potential model for Ehlers Danlos syndrome. In an attempt to offer alleles on well-characterized or multiple genetic backgrounds, alleles are fre ..... | ||
| 007206 | B6;129S4-TiparpGt(ROSA)79Sor/J | Cryopreserved - Ready for recovery |
| Homozygous embryos E11.5 to E18.5 exhibit hemorrhages and microaneurisms. Vascular defects persist into adulthood. At 6 weeks of age, mice are anemic (low hemoglobin concentration, red blood cell count, hematocrit). These mice also exhibit polychromasia (abnormally high number of immature blood cells); kidney defects (blood urea nitrogen level abnormally high, kidney size smaller than wildtype, swollen blood filled, degraded glomeruli are often observed, increased number of vascular smooth muscle cells partially filling the glomeruli space); and abnormalities in palate bone fusion. Homozygotes occur at lower than Mendelian ratio (22%), and 32% die by age 2 week. Heterozygotes are viable and fertile. No gene product is detected in homozygous embryos aged ED9.5-12.5 or in adult gonad. These Tiparp-mutant mice may be useful in studying kidney development, vascular development, hematopoiesis and cellular signaling during development and in adult mice; specifically receptor tyrosine ..... For more information please see the full phenotype on the strain data sheet | ||
| 004686 | B6;129S4-Tsc2tm1Djk/J | Cryopreserved - Ready for recovery |
| Mice that are heterozygous for the targeted mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. Homozygous null mice have an embryonic lethal phenotype, failing to develop past embryonic days 9.5 to 12.5 due to hepatic hypoplasia. Cultured neuroepithelial progenitor cells isolated from embryonic day 10.5 embryos display abnormal growth and differentiation. All heterozygotes develop multiple bilateral renal cystadenomas by 12-15 months of age. By 15 months, about half develop liver hemangiomas (more common in females than in males). Less than 10% develop extremity angiosarcomas or renal carcinoma. Little or no gene product (protein) is detected by Western blot in renal cystadenomas. PCR analysis reveals loss of the wildtype allele in about 30% of lesions. Phenotype variability is dependent on genetic background. This mutant mouse strain may be useful in studies of tuberous sclerosis (TSC). | ||
| 002332 | B6;129S4-Wt1tm1Jae/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the Wt1tm1Jae targeted mutation die between embryonic days 13 and 15. They fail to develop a kidney or gonads. The hearts of homozygous mutant mice also fail to develop properly. Hearts are smaller than wildtype controls and possess a rounded apex. The right ventricular wall is thin and the left ventricle is reduced in size. There appears to be normal development of the aortic, pulmonary, mitral and tricuspid valves. Development of the diaphragm is also incomplete resulting in incomplete separation of the thoracic and abdominal cavities. Homozygous mutant lungs are also markedly smaller than wild type lungs. Heterozygous mice appear normal and show no tumor development (mice followed until 10 months of age). | ||
| 007203 | B6;129S4-Zfand5Gt(ROSA)72Sor/J | Cryopreserved - Ready for recovery |
| Homozygous embryos E11.5 to E18.5 exhibit hemorrhages and microaneurisms. Histological examination of E18.5 homozygous embryos reveals thin blood vessel walls, hemorrhages and lung edema. There are fewer vascular smooth muscle cells (vSMCs) in blood vessels as indicated by immunohistochemistry for desmin and alpha-smooth muscle actin. Skeletal defects are observed in 20% of animals in the sternum and calvarial bones. Homozygotes die a few hours after birth due to difficulty breathing and bruising is visible beneath the skin. Heterozygotes are viable and fertile. No gene product is detected in homozygous embryos aged ED9.5-12.5 or in adult gonad. These Zfand5-mutant mice may be useful in studying cellular signaling in development and adult mice; specifically receptor tyrosine kinases (RTK; such as Ras, MAP kinase, PI3K and those in the platelet-derived growth factor (PDGF) family) and immediate early genes (IEG) induced shortly after RTK activation. | ||
| 007207 | B6;129S4-Zfp640Gt(ROSA)81Sor/J | Cryopreserved - Ready for recovery |
| Mice homozygous for this Zfp640-mutant allele are viable and fertile, with abnormalities in palate bone fusion and increased weight gain observed only in males after adolescence. Homozygotes exhibit defects that affect the same cell types and processes as those controlled by the platelet-derived growth factor (PDGF) pathway, including vasculature, kidney, and skeletal defects. Additionally, homozygotes are reported to have low β-galactosidase activity; in situ hybridization or other sensitive methods may be necessary to detect expression of the lacZ-neo reporter fusion gene. These Zfp640-mutant mice may be useful in studying cellular signaling in development and adult mice; specifically receptor tyrosine kinases (RTK; such as Ras, MAP kinase, PI3K and those in the platelet-derived growth factor (PDGF) family) and immediate early genes (IEG) induced shortly after RTK activation. | ||
| 004373 | B6;129S6-Apaf1tm1Her/J | Cryopreserved - Ready for recovery |
| Mice that are heterozygous for the targeted allele are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. Most homozygous mutant mice have a perinatal lethal phenotype with severe neuropathology (exencephaly or cranioschesis). Five percent of homozygous null mice survive to weaning age with hydrocephalus, but do not survive much longer. Another five percent survive to adulthood and exhibit hyperactivity. Surviving male homozygotes are infertile. Homozygous female mice are fertile and have litters, but at a reduced frequency. Homozygous male mice are infertile due to massive degeneration of spermatogonia and reduced sperm. At age E9.5 in development neural tube closure defects and thickened neuropithelium appear. No targeted gene product (protein) was immunodetected in homozygous mutant mice. Fibroblast extracts from mutant adult mice do not activate caspase-3. This mutant mouse strain represents a model that may be useful in studies of th ..... For more information please see the full phenotype on the strain data sheet | ||
| 012664 | B6;129S6-Ier3tm1Raku/J | Cryopreserved - Ready for recovery |
| In this strain, exons 1-2 of the endogenous mouse immediate early response 3 (Ier3) gene is replaced with a neo cassette, abolishing gene function. Homozygotes are viable, fertile, and normal in size. These mice develop elevated blood pressure, cardiac hypertrophy, and increased heart rate. No differences were found in the immune cells of the spleen, subcutaneous and mesenteric lymph nodes, thymus, or bone marrow of the gly96/IEX-1-/- mice compared to wild-type. These mice may be useful for studying hypertension, cardiac hypertrophy, and cardiovascular physiology and disease. | ||
| 003524 | B6;129S6-Lrp8tm1Her/J | Cryopreserved - Ready for recovery |
| Mutant mice have a targeted mutation of the apolipoprotein E receptor Lrp8 (also called Apoer2). Homozygotes are viable with no gross morphological abnormalities. Homozygous males have reduced fertility, while females are not affected. Using C-terminal specific antibodies, no endogenous protein is detected in the brains of homozygotes. Homozygous mice have a smaller and less foliated cerebellum with various hippocampus defects in granule cell positioning, cortical neuron migration, granule cell laminar organization, commissural fiber distribution, CA1 microtubule-associated protein 2 (MAP-2) distribution, and long term potentiation (LTP). Mutant mice show contextual fear conditioning deficits. These mice may be useful in studies of brain development, neuronal cytoarchitecture, Reelin signaling pathways, NMDA receptor activity, lipoprotein receptors, synaptic plasticity and learning, schizophrenia, and neurodegenerative disorders such as Alzheimer's disease. | ||
| 002317 | B6;129S7-Alpltm1Sor/J | Cryopreserved - Ready for recovery |
| Mice heterozygous for the Alpltm1Sor targeted mutation appear normal and viable. Homozygous mutant mice are perinatal lethals but can be rescued by pyridoxal treatment. Surviving homozygotes develop epilepsy due to reduced GABA levels in the brain. Bone formation does not appear to be grossly affected in untreated animals, but treated animals exhibit cranial dysmorphology. The targeting vector contained both a b-galalactosidase and a neomycin genes (beta-geo), both of which are under the control of the Alpl promoter and are thus expressed in a tissue specific manner. Specifically, expression occurs in developing bones and in primordial germ cells (PGC), and the beta-galactosidase thus serves as a marker for these tissues. The marker for PGC's is particularly significant because the current marker (alkaline phosphatase staining) is only useful to study early germ cell migration. | ||
| 002187 | B6;129S7-Amhtm1Bhr/J | Cryopreserved - Ready for recovery |
| Male mice homozygous for the Amhtm1Bhr mutation have testes that are fully descended and produce functional sperm. They also develop a uterus which interferes with sperm transfer rendering most infertile. The testes develop Leydig cell hyperplasia. | ||
| 002877 | B6;129S7-Apobtm2Sgy/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the Apobtm2Sgy targeted mutation express only the APOB100 protein; development is normal and there are no intestinal abnormalities. LDL cholesterol is normal. These homozygoous mice have the lowest HDL cholesterol compared to wildtype and APOB48 expressing mice (B6,129-Apobtm1Sgy/J, Stock No. 002876). | ||
| 003266 | B6;129S7-Epas1tm1Rus/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the Epas1tm1Rus targeted mutation develop normally until embryonic day 11.5. Beginning at embryonic day 12.5 the ratio of homozygous embryos begins to decline and by day 16.5 there are no viable mutant embryos. Overall morphological development, including the circulatory system, is normal. Of particular interest however, is a pronounced bradycardia in homozygous mutant mice. Catecholamine levels in homozygous mutant mice are also significantly lower than wildtype controls. Administration of the catecholamine precursor DOPS to pregnant females rescues approximately 40% of mutant embryos. Embryos that survive to birth appear runted, fail to nurse, and die within 24 hours of birth. These results suggest a pivotal role of EPAS1 in catecholamine homeostasis. Heterozygous mice from this strain contain a modified lacZ gene in the targeting construct. This characteristic makes this strain useful as a marker for endothelial cells. | ||
| 006044 | B6;129S7-Ephb4tm1And/J | Cryopreserved - Ready for recovery |
| Mice homozygous for this targeted mutation show growth retardation and lack of blood flow by embryonic day 9.5-10 (E9.5-10), with lethality occurring around this time. Expression of lacZ occurs exclusively in embryonic vascular endothelial cells and is preferentially expressed on veins. Homozygous embryos show defective angiogenic remodeling at the capillary plexus stage in both yolk sac and head. Arrested cardiac morphogenesis and defective myocardial trabecular extensions are also observed. Heterozygous mice are viable, fertile, exhibit no behavioral defects, and have identical lacZ expression patterns. These mutant mice may be useful in studying the cellular and molecular mechanisms underlying vasculogenesis and angiogenesis, the topography of neovascularization, and adult neovascularization, including tumor angiogenesis. The developmental abnormalities in homozygous mice closely resemble those observed for mutant mice bearing a lacZ-expressing null mutation ..... | ||
| 002788 | B6;129S7-Fsttm1Zuk/J | Cryopreserved - Ready for recovery |
| Homozygous mice die within hours after birth due to a failure to breathe. They are smaller in size than normal wildtype siblings and show craniofacial, musculoskeletal, and skin defects. | ||
| 003007 | B6;129S7-Hoxb4tm1Bay/J | Cryopreserved - Ready for recovery |
| 002990 | B6;129S7-Inhbatm1Zuk/J | Cryopreserved - Ready for recovery |
| Homozygous mice die within 24 hours of birth. They show craniofacial defects including a cleft palate. | ||
| 003120 | B6;129S7-L1camtm1Sor/J | Cryopreserved - Ready for recovery |
| The L1 gene is localized to the X chromosome. As a result, hemizygous males are affected and the mutation has to be propagated through females. Male mice hemizygous for the L1camtm1Sor targeted mutation have defects in the guidance of axons of the corticospinal tract. A substantial proportion of axons do not take their normal crossed course to the dorsal column at the pyramidal decussation. There is also a varying, but reduced number of corticospinal axons in the dorsal columns of the spinal cord. | ||
| 002402 | B6;129S7-Lifrtm1Imx/J | Cryopreserved - Ready for recovery |
| 002381 | B6;129S7-Srctm1Sor/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the Srctm1Sor targeted mutation display osteopetrosis. Homozygous mutant mice are approximately one-third the size of normal wildtype siblings. Incisors fail to erupt. In general, long bones are shorter in length and show a partial absence of bone marrow. Src has been implicated in development, but its role may be masked by other tyrosine kinases. No overt phenotype is found in brain or platelets, where it is most highly expressed. Mice heterozygous for the Srctm1Sor mutation have no apparent abnormalities. | ||
| 000773 | B6;129T-Dnahc11iv/J | Cryopreserved - Ready for recovery |
| DNAHC11 is important for developmental control of organ positioning in the left-right axis such that homozygosity for the situs inversus viscerum (iv) mutant allele can result not only in inverse placement of the visceral and thoracic organs, but also in anomalous positioning and interactions of blood vessels (including the hepatic portal, inferior vena cava, and azygos vein) and modified shape of organs and blood vessels, including abnormal lobation of lungs or liver. Approximately 50% of mice homozygous for Dnahc11iv have situs inversus, and the likelihood of situs inversus is not impacted by whether the homozygous parent has situs inversus. This indicates that wild type Dnahc11 instructs left-right asymmetry, and in the absence of functional Dnahc11 the direction of this asymmetry is random. Heterotaxia is found in less than half of homozygotes and occurs equally in those that do and do not have situs inversus. W ..... For more information please see the full phenotype on the strain data sheet | ||
| 009362 | B6;129X1-Cdc25atm1.1Hpw/J | Cryopreserved - Ready for recovery |
| Homozygous targeted animals die between embryonic 5.5 and 6.5. Embryos exhibit severe growth and morphological abnormalities. In culture, homozygous blastocysts are unable to expand their inner cell mass. Heterozygotes are viable, fertile, and healthy. This strain may be useful in studies of development, cell cycles, and cancer. | ||
| 003080 | B6;129X1-Emx1tm1Jlr/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the Emx1 tm1Jlr targeted mutation are viable and fertile. They show no obvious morphological or behavioral abnormalities. However, all homozygous mice lack most or all of their corpus callosum, the principle fiber tract that connects the left and right cerebral hemispheres. Heterozygotes show partial penetrance for the corpus callosum abnormality. The cerebral cortex appears normal in both heterozygous and homozygous mice. | ||
| 002293 | B6;129X1-Fostm1Pa/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the Fostm1Pa mutation show reduced placental and fetal weights, lack teeth, and have a significant pre-weaning loss of viability. Survivors grow at a normal rate until about 11 days of age when they begin to develop a severe osteopetrosis. They may live as long as 5-7 months. Homozygous mice have delayed or absent gametogenesis and show lymphopenia. They also exhibit behavioral abnormalities, including hyperactivity and diminished response to external stimuli. | ||
| 008467 | B6;129X1-Wnt7btm2Amc/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the Wnt7bc3 allele are viable and fertile, with loxP sites flanking exon 3 of the targeted gene. When bred to mice that express Cre recombinase, the resulting offspring will have this region deleted in the cre-expressing tissue(s). Unlike other Wnt7b mutant alleles, this Wnt7bc3 conditional allele is not affected by alternative exon 1 splicing. These Wnt7bc3 mice may be useful in generating conditional mutations for studying the role of Wnt7b (and other Wnt family members) in development and canonical Wnt signaling cascades, including lung differentiation and growth. In addition, these mice may also be useful in conjunction with other Wnt7 mutant strains including Wnt7b knockout mice (Stock No. 004693) and Wnt7a mutant mice (Stock No. 004715).
When bred to a strain expressing Cre recom ..... | ||
| 004502 | B6;AKR-Lxl2/GrsrJ | Cryopreserved - Ready for recovery |
| This dominant mutation causes the animal to present with all four limbs at odd angles to the body. There are extra toes on all four limbs and the rear legs are oriented backward. Severe arthritis of the knee was observed in one female, but no other histological lesions were seen. | ||
| 003240 | B6;B10.A-H2a-Tg(H2KmPCC)2939Stoe/J | Cryopreserved - Ready for recovery |
| PCC transgenic mice are viable and fertile. Pigeon cytochrome c was engineered for expression in lymphoid tissues of transgenic mice in two forms: one in which it is expressed as a type II plasma membrane protein (mPCC), and a second in which it was targeted to the mitochondria after cytoplasmic synthesis (ePCC). This strain carries the mPCC construct. (For mice carrying the ePCC construct, see strain 003221.) PCC is expressed in thymus, spleen and LPS stimulated B cells in both strains of mice. mRNA expression levels are higher in mPCC mice than in ePCC mice. However, tolerance is induced in the thymus of both strains, regardless of antigen compartmentation. | ||
| 010816 | B6;C-Ghrhrlit Prkdcscid/BmJ | Cryopreserved - Ready for recovery |
| B6;C-GhrhrlitPrkdcscid/BmJ mice are deficient in growth hormone and IGF1 and are useful for determining endocrine dependence of grafted cells and tissues (Beamer et al., 1993, Cancer Research, v53:3741; Friend et al., 2001 Growth Hormone & IGF Research, v11:84). | ||
| 003506 | B6;C-Npr3lgj/J | Cryopreserved - Ready for recovery |
| 005315 | B6;C3H-Tg(Scgb1a1-Scnn1b)6608Bouc/J | Cryopreserved - Ready for recovery |
| These Scnn1b-transgenic mice overexpress the mouse nonvoltage-gated 1 beta, Scnn1b, under the direction of the rat secretoglobin, family 1A, member 1 (uteroglobin; Clara cell secretory protein) promoter. Approximately 40-60% of hemizygous mice die between birth and 4 weeks of age due to airway obstruction asphyxia. Histological analysis reveals that mucus accumulation, plaques and plugs in airways occur postnatally. Basal and amiloride-sensitive short-circuit currents in tracheal tissue are increased. Airway surface liquid (ASL) volume, mucus transport and clearance are reduced. Bronchial lavage and histological analysis shows mutant mice exhibit characteristics of cystic fibrosis lung disease including chronic bronchitis, airway inflammation, airway lumen infiltration of macrophage and neutrophils, and goblet cell metaplasia. These Scnn1b-transgenic mice may be useful in studies of cystic fibrosis, and are available on different genetic backgrounds such as B6;C3H mixed (Stock N ..... For more information please see the full phenotype on the strain data sheet | ||
| 007986 | B6;CBA-Tg(H*/Olfr16-GFP)11Mom/MomJ | Cryopreserved - Ready for recovery |
| This transgene provides a control for that used in stocks #007980 and #007981 for investigating the promoter elements important in olfactory receptor expression. It encodes the same full coding sequence of Olfr16 with an IRES-tauGFP just after the stop codon resulting in bicistronic expression. This coding sequence is under the control of the 405 base pairs of regulatory sequence just upstream of the Olfr16 transcription start site and 9 equally spaced repeats of a mutated homeodomain binding sequence, upstream of this promoter. Each of the homeodomain sequences has two A to G mutations disrupting the binding site. These mutations in the homeobox domains reverse the massive increase in the number of cells expressing this olfactory receptor found in the transgenics with intact homeobox domains. The expression pattern for this transgenic instead resembles that of wild-type endogenous OLFR16 expression. | ||
| 007987 | B6;CBA-Tg(H*/Olfr16-GFP)25Mom/MomJ | Cryopreserved - Ready for recovery |
| This transgene provides a control for that used in stocks #007980 and #007981 for investigating the promoter elements important in olfactory receptor expression. It encodes the same full coding sequence of Olfr16 with an IRES-tauGFP just after the stop codon resulting in bicistronic expression. This coding sequence is under the control of the 405 base pairs of regulatory sequence just upstream of the Olfr16 transcription start site and 9 equally spaced repeats of a mutated homeodomain binding sequence, upstream of this promoter. Each of the homeodomain sequences has two A to G mutations disrupting the binding site. These mutations in the homeobox domains reverse the massive increase in the number of cells expressing this olfactory receptor found in the transgenics with intact homeobox domains. The expression pattern for this transgenic instead resembles that of wild-type endogenous OLFR16 expression. | ||
| 007979 | B6;CBA-Tg(H/Olfr16-GFP)3Mom/MomJ | Cryopreserved - Ready for recovery |
| This transgene encodes the full coding sequence of Olfr16 with an IRES-tauGFP just after the stop codon resulting in bicistronic expression. This coding sequence is under the control of 9 equally spaced repeats of the HD binding sequence and the 405 base pairs of regulatory sequence just upstream of the Olfr16 transcription start site. A massive increase is found in the number of cells that express this olfactory receptor, relative to the endogenous expression pattern, but the pattern of expression remains predominantly in the dorsal main olfactory epithelium, with some transgenic lines having additional narrow ventral domain expression. | ||
| 007980 | B6;CBA-Tg(H/Olfr16-GFP)4Mom/MomJ | Cryopreserved - Ready for recovery |
| This transgene encodes the full coding sequence of Olfr16 with an IRES-tauGFP just after the stop codon resulting in bicistronic expression. This coding sequence is under the control of 9 equally spaced repeats of the HD binding sequence and the 405 base pairs of regulatory sequence just upstream of the Olfr16 transcription start site. A massive increase is found in the number of cells that express this olfactory receptor, relative to the endogenous expression pattern, but the pattern of expression remains predominantly in the dorsal main olfactory epithelium, with some transgenic lines having additional narrow ventral domain expression. | ||
| 007981 | B6;CBA-Tg(H/Olfr16-GFP)6Mom/MomJ | Cryopreserved - Ready for recovery |
| This transgene encodes the full coding sequence of Olfr16 with an IRES-tauGFP just after the stop codon resulting in bicistronic expression. This coding sequence is under the control of 9 equally spaced repeats of the HD binding sequence and the 405 base pairs of regulatory sequence just upstream of the Olfr16 transcription start site. A massive increase is found in the number of cells that express this olfactory receptor, relative to the endogenous expression pattern, but the pattern of expression remains predominantly in the dorsal main olfactory epithelium, with some transgenic lines having additional narrow ventral domain expression. | ||
| 007984 | B6;CBA-Tg(H/Olfr16-taumCherry,-tauGFP)11Mom/MomJ | Cryopreserved - Ready for recovery |
| This transgenic strain encodes two co-injected transgenes that both have 9 equally spaced repeats of the homeodomain binding sequence linked to the 405 base pairs of regulatory sequence just upstream of the transcription start site for Olfr16 driving expression of the full coding sequence of Olfr16 and either an IRES-tauGFP or an IRES-taumCherry just after the stop codon resulting in bicistronic expression of a fluorescent marker with the transgenically expressed olfactory receptor. Similar to the findings in strains bearing just one construct (see stocks #007979, #007980 and #007981) a massive increase is found in the number of cells that express the transgenic olfactory receptor, relative to the endogenous expression pattern, but the pattern of expression remains predominantly in the dorsal main olfactory epithelium. Expression of the co-injected transgenes is mutually exclusive with red and green fluorescence not found to overlap, proving that, despite an increase in ..... For more information please see the full phenotype on the strain data sheet | ||
| 007985 | B6;CBA-Tg(H/Olfr16-taumCherry,-tauGFP)13Mom/MomJ | Cryopreserved - Ready for recovery |
| This transgenic strain encodes two co-injected transgenes that both have 9 equally spaced repeats of the homeodomain binding sequence linked to the 405 base pairs of regulatory sequence just upstream of the transcription start site for Olfr16 driving expression of the full coding sequence of Olfr16 and either an IRES-tauGFP or an IRES-taumCherry just after the stop codon resulting in bicistronic expression of a fluorescent marker with the transgenically expressed olfactory receptor. Similar to the findings in strains bearing just one construct (see stocks #007979, #007980 and #007981) a massive increase is found in the number of cells that express the transgenic olfactory receptor, relative to the endogenous expression pattern, but the pattern of expression remains predominantly in the dorsal main olfactory epithelium. Expression of the co-injected transgenes is mutually exclusive with red and green fluorescence not found to overlap, proving that, despite an increase in ..... For more information please see the full phenotype on the strain data sheet | ||
| 007982 | B6;CBA-Tg(H/Olfr16-taumRFP,-tauGFP)8Mom/MomJ | Cryopreserved - Ready for recovery |
| This transgenic strain encodes two co-injected transgenes that both have 9 equally spaced repeats of the homeodomain binding sequence linked to the 405 base pairs of regulatory sequence just upstream of the transcription start site for Olfr16 driving expression of the full coding sequence of Olfr16 and either an IRES-tauGFP or an IRES-tauRFP just after the stop codon resulting in bicistronic expression of a fluorescent marker with the transgenically expressed olfactory receptor. Similar to the findings in strains bearing just one construct (see stocks #007979, #007980 and #007981) a massive increase is found in the number of cells that express the transgenic olfactory receptor, relative to the endogenous expression pattern, but the pattern of expression remains predominantly in the dorsal main olfactory epithelium. Expression of the co-injected transgenes is mutually exclusive with red and green fluorescence not found to overlap, proving that, despite an increase in the ..... For more information please see the full phenotype on the strain data sheet | ||
| 007983 | B6;CBA-Tg(H/Olfr16-taumRFP,-tauGFP)9Mom/MomJ | Cryopreserved - Ready for recovery |
| This transgenic strain encodes two co-injected transgenes that both have 9 equally spaced repeats of the homeodomain binding sequence linked to the 405 base pairs of regulatory sequence just upstream of the transcription start site for Olfr16 driving expression of the full coding sequence of Olfr16 and either an IRES-tauGFP or an IRES-tauRFP just after the stop codon resulting in bicistronic expression of a fluorescent marker with the transgenically expressed olfactory receptor. Similar to the findings in strains bearing just one construct (see stocks #007979, #007980 and #007981) a massive increase is found in the number of cells that express the transgenic olfactory receptor, relative to the endogenous expression pattern, but the pattern of expression remains predominantly in the dorsal main olfactory epithelium. Expression of the co-injected transgenes is mutually exclusive with red and green fluorescence not found to overlap, proving that, despite an increase in the ..... For more information please see the full phenotype on the strain data sheet | ||
| 007978 | B6;CBA-Tg(Hf/Olfr16-GFP)47Mom/MomJ | Cryopreserved - Ready for recovery |
| This transgene encodes the full coding sequence of Olfr16 with an IRES-tauGFP just after the stop codon resulting in bicistronic expression. This coding sequence is under the control 405 base pairs of regulatory sequence just upstream of the transcription start site with an additional 2.1 kb H element in the forward orientation upstream of this promoter to assess the ability of this element to enhance expression. This line for this transgenic construct expresses a mildly enhanced but normal pattern of expression for this olfactory receptor. | ||
| 007977 | B6;CBA-Tg(Hf/Olfr16-GFP)7Mom/MomJ | Cryopreserved - Ready for recovery |
| This transgene encodes the full coding sequence of Olfr16 with an IRES-tauGFP just after the stop codon resulting in bicistronic expression. This coding sequence is under the control 405 base pairs of regulatory sequence just upstream of the transcription start site with an additional 2.1 kb H element in the forward orientation upstream of this promoter to assess the ability of this element to enhance expression. This line for this transgenic construct expresses a mildly enhanced but normal pattern of expression for this olfactory receptor. | ||
| 007974 | B6;CBA-Tg(Olfr160-taulacZ)V4-7Mom/MomJ | Cryopreserved - Ready for recovery |
| This transgene encodes tau-linked-LacZ under the control of a minimal promoter comprised of 135 base pairs upstream of the Olfr160 transcription start site and 163 base pairs of the 5' nontranslated exon 1. It does not drive expression of any olfactory receptor sequence. It is useful in mapping promoter elements important for olfactory receptor expression and the related olfactory sensory neuron development. Histology shows mosaic expression of LacZ in the main olfactory epithelium with the expression ventralized compared to the normal pattern of Olfr160 expression. | ||
| 006743 | B6;CBA-Tg(P-taulacZ)11Mom/MomJ | Cryopreserved - Ready for recovery |
| The Tg(P-taulacZ)11Mom transgene is expressed in approximately 10% of olfactory sensory neurons, which are also expected to co-express an endogenous olfactory receptor. This transgene is preferentially expressed in olfactory sensory neurons that co-express class II olfactory receptors, with a 100-fold lower expression found in class I expressing neurons. Immunohistochemistry shows expression in NCAM2 staining glomeruli, which are generally dorsally projecting, and a ventral subset of NQO1 staining glomeruli, which are generally ventrally projecting. Expression is absent in glomeruli in the dorsal-medial and anterior-dorsal olfacotry bulb giving an unlabeled butterfly-shaped pattern in a dorsal view. | ||
| 006793 | B6;CBA-Tg(P-taulacZ)13Mom/MomJ | Cryopreserved - Ready for recovery |
| The Tg(P-taulacZ)13Mom transgene is expressed in approximately 10% of olfactory sensory neurons, which are also expected to co-express an endogenous olfactory receptor. This transgene is preferentially expressed in olfactory sensory neurons that co-express class II olfactory receptors, with a 100-fold lower expression found in class I expressing neurons. Immunohistochemistry shows expression in NCAM2 staining glomeruli, which are generally dorsally projecting, and a ventral subset of NQO1 staining glomeruli, which are generally ventrally projecting. Expression is absent in glomeruli in the dorsal-medial and anterior-dorsal olfacotry bulb giving an unlabeled butterfly-shaped pattern in a dorsal view. | ||
| 006742 | B6;CBA-Tg(P-taulacZ)8Mom/MomJ | Cryopreserved - Ready for recovery |
| The Tg(P-taulacZ)8Mom transgene is expressed in approximately 10% of olfactory sensory neurons, which are also expected to co-express an endogenous olfactory receptor. This transgene is preferentially expressed in olfactory sensory neurons that co-express class II olfactory receptors, with a 100-fold lower expression found in class I expressing neurons. Immunohistochemistry shows expression in NCAM2 staining glomeruli, which are generally dorsally projecting, and a ventral subset of NQO1 staining glomeruli, which are generally ventrally projecting. Expression is absent in glomeruli in the dorsal-medial and anterior-dorsal olfacotry bulb giving an unlabeled butterfly-shaped pattern in a dorsal view. When mice co-express both this transgene and a YFP labelled null allele of Olfr545, a class I olfactory receptor, they label distinct regions; when mice co-express both this transgene and a GFP labelled null allele of Olfr160, a class II olfactory receptor, they label the same reg ..... For more information please see the full phenotype on the strain data sheet | ||
| 004141 | B6;CBA-Tg(UAS-lacZ)65Rth/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the transgenic insert are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. Expression of the transgenic lacZ gene is directed by upstream activating sequence (UAS) elements. This strain serves as a reporter for mice employing GAL4/UAS bigenic system for controlled gene expression in the developing CNS. In this system, a transgenic strain expressing the yeast transcriptional activator GAL4 (see Stock No. 003829) is bred to a second transgenic, target strain bearing an UAS-regulated gene. In the double transgenic offspring, an UAS-regulated gene would be selectively expressed in tissues expressing GAL4. | ||
| 004200 | B6;CBACa Aw-J/A-Npr2cn-2J/GrsrJ | Cryopreserved - Ready for recovery |
| Mice carrying the Npr2cn-2J display mutation short thick femurs, round heads, disorganized growth plates, and relatively normal vertebrae; A one month old female exhibited the same phenotype as above but also had splayed ribs. | ||
| 005520 | B6;CByJ-Cacna1atg-6J/J | Cryopreserved - Ready for recovery |
| The mutants are small and move slowly. Their hind limbs appear to be weak, and barely support their efforts of walking, so that the mice frequently loose their balance. Hind limbs also show intermittent spasms, with extension to the side or backward; there is no noticeable withdrawl reflex when gently pulling a leg. When lifting mutants by their tail, the hind limbs remain close to the body. The average onset of the phenotype is at 3 weeks of age (3.2 +/- 0.6 weeks; n=92). Because of phenotype similarities to Cacna1atg (calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
), the tottering mutant, complementation tests were performed between nmf352 and B6.D2-Cacna1atg/J (JR#0544). The results, 3 mutants in a total of 5 progeny, indicate that NMF352 represents an allele of Cacna1atg. Standard pathology work-up on six mutants (22 days of age) revealed no abnormalities, except an atrophic thymus and hypoplastic bone marro ..... For more information please see the full phenotype on the strain data sheet | ||
| 005050 | B6;CByJ-Cacna2d2du-3J/J | Cryopreserved - Ready for recovery |
| The mutants can be detected at or shortly after weaning age (average age of onset 5 weeks +/-1.9; n=9). They are small, show body tremor, splayed hind limbs, and might advance with both hind limbs simultaneously, in a 'frog-like' manner. Intermittently, body spasms can be observed, which may be limited to one or the other hind- or fore limb, or to the head, neck, shoulder and front limb area, or include the whole body, so the animal needs to lie on its side. Either episode may last for several seconds. Because of the observed body spasms and splayed hind limbs, allele tests were performed with Cacna2d2 (calcium channel, voltage-dependent, alpha 2/delta subunit 2) or Cacnb4 (calcium channel, voltage-dependent, beta 4 subunit) mutants. The results showed NMF299 to be an allele of Cacna2d2, i.e. 2 heterozygous matings (w/ducky-2J) resulted in 2 affected mice in a total of 12 progeny. NMF299 are now backcrossed to the BALB/cByJ background. Standard pathology work-up on one mutant (5 ..... For more information please see the full phenotype on the strain data sheet | ||
| 001378 | B6;D2-In(3)55Rk Uoxin/J | Cryopreserved - Ready for recovery |
| The Uoxin homozygous phenotype has incomplete penetrance. While 63% of Uoxin homozygotes die by 12-14 days of age, those that live to adulthood generally live a normal breeding life span. Homozygous adults display chronic polyuria, increased serum BUN and creatinine levels, and hydronephrosis with a concomitant inflammatory response that is followed by glomerular and tubular dilation. (Cook et al., 2001.) | ||
| 006147 | B6;FVB-Tg(Sfpi1,-EGFP)7Dgt/J | Cryopreserved - Ready for recovery |
| Hemizygous mice are viable and fertile with no gross or behavioral abnormalities. Flow cytometry identifies enhanced green fluorescent protein (EGFP) reporter expression in a pattern similar to the endogenous gene; in bone marrow, high expression is observed in myeloid cells, and to a lesser degree in B lymphocytes and erythroid cells. Expression in spleen is consistent with B cells and natural killer cells, while no expression is observed in thymus. These mice may be useful in studies of hematopoietic cell development, transcription factor pathways, and leukemia (including erythroleukemia). | ||
| 007244 | B6;SJL-Tg(Alb-F5)2Dgi/J | Cryopreserved - Ready for recovery |
| Liver-specific expression of the transgene is exhibited in this strain of mice as determined by RT-PCR. When crossed with a F5 targeted mouse (Stock No. 004078), homozygous knockout/hemizygous transgenic mice are grossly normal and show no evidence of spontaneous hemorrhage; compound mutants have a plasma F5 level that is ~45% that of wildtype mice, no platelet F5, slightly prolonged bleeding times, and show transgene rescue of both mid-embryonic lethality and perinatal hemorrhage phenotypes associated with F5 knockouts. | ||
| 007245 | B6;SJL-Tg(Alb-F5)3Dgi/J | Cryopreserved - Ready for recovery |
| Liver-specific expression of the transgene is exhibited in this strain of mice as determined by RT-PCR. When crossed with a F5 deficient mouse ((Stock No. 004078), homozygous knockout/hemizygous transgenic mice have a plasma F5 level that is ~15% that of wildtype mice, no platelet F5, slightly prolonged bleeding times, and show transgene rescue of the perinatal hemorrhage phenotype associated with F5 knockouts. | ||
| 007242 | B6;SJL-Tg(Alb-Ggcx)1Dgi/J | Cryopreserved - Ready for recovery |
| Liver-specific expression of the transgene is exhibited in this strain of mice as determined by RT-PCR. When crossed with a Ggcx targeted mouse (Stock No. 007239), homozygous knockout/hemizygous transgenic mice are viable and show no overt phenotype. Although enhanced green fluorescence protein (EGFP) is incorporated in the transgene, no expression has been detected. | ||
| 007243 | B6;SJL-Tg(Cxcl4-F5)1Dgi/J | Cryopreserved - Ready for recovery |
| Platelet-specific expression of the transgene is exhibited in this strain of mice as determined by RT-PCR. When crossed with a F5 targeted mouse (Stock Number: 004078), homozygous knockout/hemizygous transgenic mice show a slightly increased bleeding time, a platelet F5 level that is ~5% that of wildtype mice, no plasma F5, and transgene rescue of the perinatal hemorrhage phenotype associated with F5 knockouts. | ||
| 004360 | B6;SJL-Tg(HD)63Aron/J | Cryopreserved - Ready for recovery |
| These transgenic mice express the initial N-terminal third of the mutant human huntingtin gene (IT15) under the direction of the rat neuron-specific enolase promoter. Expected transgene expression was confirmed by Northern blot, RT-PCR and Western blot analysis. Mice heterozygous for the transgene have a phenotype mimicking much of the morphological and subcellular neuropathology that occurs in the striatum and cortex in human Huntington's disease. Behavioral abnormalities are varible in onset and intensity, beginning between three to six months of age. Transgenic mice exhibit increased levels of nuclear and cytoplasmic huntingtin and dysmorphic dendrites in the striatum and cortex. Electron microscopic analysis of nuclear inclusions of cortical and striatal neurons detects granular and filamentous structures that appear to be similar to structures seen in brain affected by Huntington's disease. Cortical stimulation and N-methyl-D-aspartate (NMDA) receptor activation produces abnormal ..... For more information please see the full phenotype on the strain data sheet | ||
| 010575 | B6;SJL-Tg(tetO-Egfr*)2-9Jek/J | Cryopreserved - Ready for recovery |
| The donating investigator reports that homozygous mice are viable and fertile. These TetRE-EGFR-tr (TRE-EGFR-tr) transgenic mice express a dominant negative, cytoplasmic tyrosine kinase domain-deleted mutant form of epidermal growth factor receptor (EGFR-tr) regulated by the tetracycline operator (tetO; also called tetracycline-responsive element (TRE, TetRE) or tet-operator) and cytomegalovirus minimal promoter. When mated to a mutant strain expressing reverse tetracycline-controlled transactivator protein (rtTA) or tetracycline-controlled transactivator protein (tTA), tissue EGFR-tr expression may be regulated with the tetracycline analog doxycycline (dox) in the double mutant offspring. EGFR-tr expression disrupts subsequent activation of signal transduction pathways that are involved in regulating cellular proliferation, differentiation, and survival. These TetRE-EGFR-tr mice may be bred to generate bi-transgenic mutant mice with conditional (inducible/reversible) expressi ..... For more information please see the full phenotype on the strain data sheet | ||
| 010577 | B6;SJL-Tg(tetO-Erbb2*)8-4Jek/J | Cryopreserved - Ready for recovery |
| The donating investigator reports that homozygous mice are viable and fertile. These TetRE-ErbB2 (TRE-ErbB2 or TRE-Neu) transgenic mice have expression of an activated form of the rat ErbB2 regulated by the tetracycline operator (tetO; also called tetracycline-responsive element (TRE, TetRE) or tet-operator) and cytomegalovirus minimal promoter. When mated to a mutant strain expressing reverse tetracycline-controlled transactivator protein (rtTA) or tetracycline-controlled transactivator protein (tTA), expression of the constitutively active ErbB2 protein may be regulated with the tetracycline analog doxycycline (dox) in the double mutant offspring.
The amino acid mutation within the transmembrane domain of the ErbB2 receptor protein kinase facilitates its oligomerization and activation independent of a ligand; resulting in hyperplasia in tissues where it is expressed.
These TetRE-ErbB2 mice may be bred to generate bi-transgenic mutant mice with conditional (inducible/r ..... For more information please see the full phenotype on the strain data sheet | ||
| 000523 | B6By.Cg-Eh/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the hairy ears mutation die within a day of birth. The palatal shelves fail to fuse resulting in complete clefting of the secondary palate, and the tympanic rings are shortened and deformed. Heterozygotes can be identified by tufts of hair on the inner ear and smaller than normal ear pinnae. | ||
| 000350 | B6By.Cg-KitW-v MitfMi-wh T/J | Cryopreserved - Ready for recovery |
| Kit mice possess pleiotropic defects in pigment-forming cells, germ cells, RBC's and mast cells. In addition, they exhibit impaired resistance to parasitic infection and an intrinsic progenitor cell defect. KitW-v homozygotes resemble KitW homozygotes in color, anemia, and germ cells, but many of them survive to maturity. The lack of germ cells in mutant mice leads to the development of some ovarian tumors (mesotheliomas and granulosa cell), associated with an overproduction of pituitary gonadotropic hormone. Mutations at the Mitf locus affect eye size, pigmentation, and the capacity for secondary bone resorption. Mice homozygous for the white allele (MitfMi-wh) display an overall absence of pigment cells with the exception of the retina which expresses a few giving the eye a small amount of pigment. Homozygotes show slight microphthalmia but a normal skeleton. Heterozygotes (MitfMi-wh/+) have a dilut ..... For more information please see the full phenotype on the strain data sheet | ||
| 000126 | B6By.Cg-Sd Mcoln3Va-J Krt25Re/J | Cryopreserved - Ready for recovery |
| Mice heterozygous for the varitint-waddler Jackson spontaneous mutation (Mcoln3Va-J) are more pigmented than the original varitint waddler mice (Mcoln3 Va) and behave normally although they are deaf. They have slightly diluted coat color, a large irregular belly spot, and white feet and tail tip. Homozygous mutant mice have extensive white spotting interspersed with patches of diluted color. They are deaf but behave normally and are fertile. Compound heterozygotes for the two alleles (Mcoln3Va-J/Mcoln3Va) are similar to Mcoln3Va-J/Mcoln3Va-J mice but are smaller with more white spotting and abnormal behavior. They are deaf and circle vigorously. Viability and fertility of Mcoln3Va-J/Mcoln3Va mice are considerably reduced. This strain is also carrying two other mutations, rex (Krt25Re) and Danforth's short tail (Sd). | ||
| 000836 | B6By.Cg-Sig/J | Cryopreserved - Ready for recovery |
| 000125 | B6By.Cg-Sox18Ra Pt Os/J | Cryopreserved - Ready for recovery |
| The Sox18Ra and Sox18Ra-J alleles cause a less severe phenotype than the Sox18Ra-Op allele. The Sox18Ra and Sox18Ra-J alleles are similar mutations and give a very similar phenotype. The Sox18Ra allele has been more broadly described in the literature and will be covered here. Heterozygotes are viable and fertile. Heterozygotes have developmentally retarded sinus hair growth apparent at embryonic day 16.5 and retarded development of pelage follicles apparent by embryonic day 17.5. Thus, heterozygotes have slightly shorter vibrissae evident at birth, and can be distinguished at three days of age by their pink skin which, due to the abnormally sparse development of the coat, fails to darken like that of wildtype siblings. A paucity of fur is apparent by nine days of age and persists throughout life. Compared with the wild type pelage, Sox18Ra/+ coats have longer g ..... For more information please see the full phenotype on the strain data sheet | ||
| 005654 | B6C3-Del(16Cbr1-ORF9)1Rhr/J | Cryopreserved - Ready for recovery |
| These mice are monosomic for the mouse chromosome segment orthologous to the human chromosome 21 Down syndrome critical region (DSCR). The deleted segment contains mouse orthologs of 33 conserved and minimally conserved genes in the human DSCR. The borders of the deletion are defined by the carbonyl reductase 1 (Cbr1) gene and a site adjacent to the myxovirus (influenza virus) resistance 2 (Mx2) locus. Monosomic mice are viable, fertile and are significantly smaller than wildtype (euploid) littermates from birth to adulthood. This mouse may be useful in studies of Down syndrome and further exploring the ploidy of the DSCR segment of mouse Chr 16. | ||
| 001750 | B6C3Fe a/a-Eif3cXs-J/J | Cryopreserved - Ready for recovery |
| 000221 | B6C3Fe a/a-Alx4lst-J/J | Cryopreserved - Ready for recovery |
| 000209 | B6C3Fe a/a-Dh/J | Cryopreserved - Ready for recovery |
| A spontaneous mutation on chromosome 1 of the dominant hemimelia gene, Dh, causes a defect in the embryonic splanchnic mesoderm and induces congenital absence of the spleen and widespread visceral and skeletal abnormalities. Mice homozygous for the Dh mutation die shortly after birth. Heterozygotes may exhibit tibial hemimelia, polydactyly, and extra fused toes. Rear leg(s) may be held at an odd angle with bent rear ankles. Heterozygotes have enlarged lymph nodes and elevated numbers of circulating lymphocytes, granulocytes and thrombocytes. They show reduced serum IgM and IgG2 and impaired humoral antibody response as well as decreased numbers of lymph node mast cells. The Pde6brd1 allele contributed to this strain by C3FeLe.B6-a causes blindness and is segregating in this strain. | ||
| 000211 | B6C3Fe a/a-Dstdt-J/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the dystonia musculorum-J spontaneous mutation (Dstdt-J)are recognizable at 7 to 10 days of age by clasping of the hindlimbs when mice are lifted by the tail. There is increasing incoordination with alternating hyperextension and hyperflexion of the limbs but no obvious paralysis. Many affected animals die before weaning, but some survive several months. The clinical condition becomes relatively stationary after the first phase of deterioration. Histologically, the nervous system shows degenerative changes and progressive loss of nerve fibers in the central and peripheral branches of the sensory ganglion cells of the spinal and cranial nerves, in the central sensory pathways, and in peripheral sensory structures such as skin, Pacinian corpuscles, and muscle spindles. In the PNS, there is some segmental demyelination and other abnormalities of the myelin sheaths. | ||
| 002875 | B6C3Fe a/a-Hoxd13spdh/J | Cryopreserved - Ready for recovery |
| The spdh/spdh mutants have a normal body size but exhibit shortened, fused, and duplicated digits in both front and rear feet. Ossification is severely delayed and ossification centers are mis-patterned in developing metacarpal, metatarsal and phalangeal bones. Joint formation is severely disrupted in the phalanges, with forelimbs more affected compared to the hindlimbs. Reduced rates of proliferation and differentiation of mutant chondrocytes contribute to altered cartiledge/bone morphology. Although expression patterns of Hoxd13/11/12 and Hoxa13 do not seem to be disrupted, their function does seem to be disrupted, indicating HOX protein interactions are altered as a result of the spdh mutation. Additionally, the spdh mutant phenotype is much more severe than mutants carrying a targeted disruption of the spdh gene, supporting a dominant-negative effect. The preputial glands of the genital tract are absent in both male and female spdh ..... For more information please see the full phenotype on the strain data sheet | ||
| 000636 | B6C3Fe a/a-Lmx1adr-J/J | Cryopreserved - Ready for recovery |
| Lmx1a encodes a LIM homeodomain (LIM-hd) protein that is expressed in the roof plate along the neuraxis during CNS development. The Lmx1adr-J mutation replaces a conserved cysteine in the LIM1 domain of the protein with a tyrosine (Millonig et al. 2000). Mice homozygous for Lmx1adr-Jare identifiable at birth by a thin filament extending from the end of the tail, which drops off within a few days, and a short or blunt tail. They may also have a head bleb. When fur develops, there may be a white belly spot. Lmx1adr-J/Lmx1adr-J mice are ataxic and hyperactive and have difficulty righting themselves, and they do not reproduce (Sweet and Wahlsten 1983). They also exhibit circling behavior, are deaf, and have inner ear and vertebral malformations (Manzanares et al. 2000).
Lmx1adr-J homozygotes exhibit defects of three classes of anatomic structures: the hindbrain roof plate, neural crest derived ..... | ||
| 001573 | B6C3Fe a/a-MitfMi/J | Cryopreserved - Ready for recovery |
| Mutations at the Mitf locus affect eye size, pigmentation, and the capacity for secondary bone resorption. Mice heterozygous for the MitfMi mutation have less iris pigment than wildtype and often have white spotting on the belly, head, and tail. Homozygous mutant mice have small eyes and are devoid of pigment in the eyes, inner ear, and skin. Homozygotes are deaf at an early age. There is a decrease of mast cells in the spleen and gut. Most homozygotes die around weaning but some may live for several months. There is a deficiency of secondary bone resorption (osteopetrosis) and the incisors fail to erupt. Immunological defects include decreased macrophage chemotactic responses, impaired proliferative responses to B cell and T cell mitogens, diminished responses in vitro to T-dependent and T-independent antigens and reduced NK cell activity. | ||
| 001035 | B6C3Fe a/a-Napahyh/J | Cryopreserved - Ready for recovery |
| Although no overt phenotype is appearant in newborn hyh mice, they have dilated lateral ventricles. By 2 weeks of age, an outward phenotype of a domed head and a hop gait is apparent. Dissection and histological examination reveal "hydrocephalus of lateral and third ventricles and of the caudal aspects of the cerebreal aquiduct" increasing in severity with age (Bronson et al., 1990). Homozygotes have a decreased lifespan usually dying before 2 months of age. Some homozygotes will live for several months, but usually will not breed. | ||
| 000278 | B6C3Fe a/a-Papss2bm Hps1ep Hps6ru/J | Cryopreserved - Ready for recovery |
| 000205 | B6C3Fe a/a-Papss2bm/J | Cryopreserved - Ready for recovery |
| 001430 | B6C3Fe a/a-Ptch1mes/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the mesenchymal dysplasia spontaneous mutation (mes) have a shortened face, wide set eyes, excessive skin, belly spot, kinked tail, preaxial polydactyly, and thickened foot pads. Homozygous mutant mice also display mineralization of tendons and multiple skeletal defects. Both sexes are infertile. Male mice have cryptorchid testes. | ||
| 000290 | B6C3Fe a/a-Sox10Dom/J | Cryopreserved - Ready for recovery |
| 000230 | B6C3Fe a/a-Tcirg1oc/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the osteosclerotic spontaneous mutation (oc) can be recognized at about 10 days by failure of eruption of the incisors, clubbed feet, and circling behavior. Homozygous mutant mice may also have a kinked tail. They grow normally for about the first 10 days of life, then lose weight or at least fail to gain. | ||
| 000005 | B6C3Fe a/a-Wc/J | Cryopreserved - Ready for recovery |
| Homozygotes die in utero and some of the more severely affected heterozgyotes will die before wean age. Heterozygotes can be identified by 5 days of age by the sparce, wavy coat, diluted coat color, fuzzy hair on the head and upper back, and wavy vibrissae. Some have dry, scaly skin and fail to develop hair. | ||
| 000243 | B6C3Fe a/a-Wnt1sw/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the swaying spontaneous mutation (Wnt1sw) sway to one side or the other when attempting to move and may then pivot clockwise or counterclockwise around their rear legs. Homozygous mutant mice display marked ataxia and hypertonia that is probably attributable to malformations of the anterior vermis of the cerebellum and of the colliculi. The cerebellum is divided on the midline by a deep dorsal sagittal fissure extending from the leptomeninges down to the level of the fourth ventricle. The probable cause is failure of the midline fusion of the cerebellum. | ||
| 000248 | B6C3Fe a/a-Xpl/J | Cryopreserved - Ready for recovery |
| 008044 | B6C3Fe a/a-bpck/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the bpck deletion develop bilateral polycystic kidneys and die by 3 weeks of age. There is an increased incidence of hydrocephalus. Homozygotes can be identified by their smaller size and swollen abdomens. At 2 weeks of age elevated blood urea nitrogen is found. Ovaries and testes are smaller than normal and progression of maturing cells from spermatocytes to spermatids is disorganized at 3 weeks of age. The primary cilia on the kidney proximal tubule epithelial cells are dysmorphic and vary in length at birth and by 14 days of age cilia are significantly longer than normal. Through overlapping BAC rescues the polycystic kidney disease and hydrocephalus has been traced to the absence of the Tmem67 gene. Although lacking some of the ancillary phenotypes associated with Meckel Syndrome Type 3 in humans, this deletion offers a model for that disease. | ||
| 002018 | B6C3Fe a/a-din/J | Cryopreserved - Ready for recovery |
| 000063 | B6C3Fe a/a-sy/J | Cryopreserved - Ready for recovery |
| Most mice homozygous for the shaker-with-syndactylism mutation (sy) die within the first month, and none have lived to breed. Homozygous mutant mice may be syndactylous on all four feet; the forefeet may often be normal and possibly one or both hindfeet very occasionally so. The remainder of the skeleton shows many slight anomalies in addition to small size. The shafts of the long bones are considerably thinner than normal, and there are differences in shape of the sacral vertebrae and the scapula. Abnormal behavior appears during the first week. It consists of head-tossing and some circling, and the affected mice are always deaf. Abnormalities of the labyrinth can be seen at E13. | ||
| 000245 | B6C3Fe a/a-tn/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the teetering spontaneous mutation (tn) die between 5 and 6 weeks of age. Homozygous mutant mice are first recognizable at 25 to 30 days by their stiff, slow, unstable movements and their growth retardation. They may assume and maintain unusual postures. Occasionally they have running "fits". Just prior to death they look emaciated and lie on their sides with all limbs extended. In the brainstem and spinal cord there is dysgenesis of selective regions including the pons, trapezoid body, olivary and fastigial nuclei, and the pyramidal tract. There is also progressive Purkinje cell loss. | ||
| 000065 | B6C3Fe a/a-we Pax1un at/J | Cryopreserved - Ready for recovery |
| The affected mutant (we Pax1un at/we Pax1un a?) has a wavy coat, wavy tail, and is black and tan. | ||
| 000296 | B6C3Fe-a/a Hoxa13Hd Mcoln3Va-J/J | Cryopreserved - Ready for recovery |
| Mice heterozygous for the varitint-waddler Jackson spontaneous mutation (Mcoln3Va-J) are more pigmented than the original varitint waddler mice (Mcoln3Va) and behave normally although they are deaf. They have slightly diluted coat color, a large irregular belly spot, and white feet and tail tip. Homozygous mutant mice have extensive white spotting interspersed with patches of diluted color. They are deaf but behave normally and are fertile. Compound heterozygotes of the two alleles (Mcoln3Va-J/Mcoln3Va) are similar to Mcoln3Va-J/Mcoln3Va-J mice but are smaller with more white spotting and abnormal behavior. They are deaf and circle vigorously. Viability and fertility of Mcoln3Va-J/Mcoln3Va mice are considerably reduced. This strain is also carrying the semidominant hypodactyly spontaneous mutation (Hoxa13Hd). Heterozygous hyp ..... For more information please see the full phenotype on the strain data sheet | ||
| 006176 | B6C3Fe-Tg(Scgb1a1-Scnn1b)6608Bouc/J | Cryopreserved - Ready for recovery |
| These Scnn1b-transgenic mice overexpress the mouse nonvoltage-gated 1 beta, Scnn1b, under the direction of the rat secretoglobin, family 1A, member 1 (uteroglobin; Clara cell secretory protein) promoter. While the donating investigator reports that most hemizygous transgenic mice (80-90%) survive past postnatal day 14, hemizygous mice at The Jackson Laboratory exhibit an approximately 40% survival rate to weaning age. Hemizygous mice that do not survive die due to airway obstruction asphyxia. Mice exhibit chronic inflammation with neutrophil infiltration, chronic mucus hypersecretion and emphysema. These Scnn1b-transgenic mice may be useful in studies of cystic fibrosis, and are available on different genetic backgrounds such as B6;C3H mixed (Stock No. 005315), B6C3Fe hybrid (Stock No. 006176), and C57BL6-congenic (Stock No. 006438).
In an attempt to offer al ..... | ||
| 003301 | B6C3FeF1 a/A-Eya1bor/J | Cryopreserved - Ready for recovery |
| The human Branchio-Oto-Renal Syndrome is generally a dominant disorder with incomplete penetrance and variable expressivity resulting from null mutations in the EYA1 gene. The mouse Eya1bor allele is primarily a recessive hypomorphic mutation. Nevertheless, homozygous mice with this hypomorphic allele offer a good model for Branchio-Oto-Renal Syndrome. The phenotype of Eya1bor/Eya1bor mice parallels that of the human Branchio-Oto-Renal Syndrome and both are thought to result from reduced gene dosage. The Eya1bor/Eya1bor mice are deaf and their behavior is marked by circling and head-bobbing. They lack all but the most basal one-quarter of the cochlea, and the organ of Corti is completely absent. They have foreshortened, narrower semicircular canals and in some the common crus is incomplete. Their kidneys are absent or dysmorphic with greater severity generally on the left side. Fewe ..... For more information please see the full phenotype on the strain data sheet | ||
| 002809 | B6CBA-Tg(HDexon1)61Gpb/1J | Cryopreserved - Ready for recovery |
| Mice have been generated that are transgenic for the 5' end of the human HD gene carrying (CAG)115-(CAG)150 repeat expansions. In both the 61Gpb and 62Gpb founder lines, the transgene is ubiquitously expressed. Transgenic mice exhibit a progressive neurological phenotype that mimics many of the features of HD, including choreiform-like movements, involuntary stereotypic movements, tremor, and epileptic seizures, as well as nonmovement disorder components, including unusual vocalization. They urinate frequently and exhibit loss of body weight and muscle bulk through the course of the disease. Neurologically they develop Neuronal Intranuclear Inclusions (NII) which contain both the huntingtin and ubiquitin proteins. These NII have also been identified in human HD patients. The age of onset of HD symptoms is reported to occur between 15 and 21 weeks for the 61Gpb line and between nine and 11 weeks for the 62Gpb line. | ||
| 001046 | B6CBACa Aw-J/A-Grid2Lc/J | Cryopreserved - Ready for recovery |
| Mice heterozygous for the lurcher spontaneous mutation (GridLc) show a characteristic swaying of the hindquarters and a jerky up and down movement. They are identifiable with sureness by their behavior at 12 to 14 days of age. Homozygous mutant micedie shortly after birth but have no visible abnormalities and show severe postnatal loss of Purkinje cells and granule cells. Virtually no Purkinje cells are found in adults and granule cells are reduced to about 10% of normal. The number of neurons in the inferior olivary nucleus falls to about 25% of normal. Other cell populations are normal. The Lc mutation induces apoptotic programmed death of the cerebellar cortical Purkinje cells. Homozygous mutant mice are reproducibly deficient in defined cell populations and thus have been used to study cerebellar function and the distribution of various brain components on cerebellar cells. | ||
| 002703 | B6CBACa Aw-J/A-Hydinhy3/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the hydrocephalus 3 spontaneous mutation (Hydinhy3) are usually identifiable at 3 to 5 days. Those with frank hydrocephalus die by 4 or 5 weeks of age. The lateral ventricles and the third ventricle are enlarged, the aqueduct of Sylvius and the fourth ventricle are only slightly affected, and there is some dilatation of the ventral subarachnoid cistern. The hydrocephalus seems to be due to a defect in the subarachnoid space under the calvarium caused by an abnormal postnatal differentiation of the arachnoid mater and pia mater which prevents their separation. Penetrance is incomplete. | ||
| 000287 | B6CBACa Aw-J/A-Plp1jp EdaTa/J | Cryopreserved - Ready for recovery |
| Hemizygous males carrying the X-linked jimpy spontaneous mutation (Plp1jp) appear normal when sitting quietly, but beginning at about 3 weeks of age they show a marked tremor of the hindquarters when attempting movement. After 3 weeks of age convulsions may occur. These males die between 20 and 40 days of age. In males, the CNS is very deficient in myelin, but the PNS is normally myelinated. Heterozygous jimpy females have normal lifespans with no overt phenotype. However, jimpy heterozygous females are reported to have reduced numbers of oligodendrocytes compared to wildtype females. While the mutation is recessive, only partial phenotypic rescue was attained by the transgenic expression of the two major isoforms, PLP and DM20, suggesting a dominant negative action from this allele (Nandon et al., 1994). This stock is also carrying the X-linked tabby mutation (EdaTa). | ||
| 000515 | B6CBACa Aw-J/A-SfnEr/J | Cryopreserved - Ready for recovery |
| This mutation shows complete penetrance in heterozygotes. These mice grow a normal appearing but probably somewhat dry first coat until the age of about 13 days; then hair loss begins and continues until the fur becomes sparse. Repeated growth and re-epilation follow without a definite pattern. Heterozygotes are slightly reduced in size and some may die before weaning, but adults are fully viable and fertile. Homozygotes die at birth from inability to breathe because of a closed oral cavity. At embryonic day 17 the skin of homozygotes is extremely thin and smooth with few vibrissae and hair follicles. The snout is truncated and the mouth closed. The limbs and tail are greatly shortened and held close to the trunk and the anal and urogenital orifices are closed. There are marked skeletal abnormalities and cleft palate. Homozygotes can be recognized at 13 days of gestation by their blunt limbs and stumpy tail. Between 13 and 15 days the nares and oral opening close, resulting in marked c ..... For more information please see the full phenotype on the strain data sheet | ||
| 000288 | B6CBACa Aw-J/A-we a Mafbkr/J | Cryopreserved - Ready for recovery |
| 000909 | B6CBy-Gpi1a/Gpi1b/J or Gpi1a-m1/Gpi1b/J | Cryopreserved - Ready for recovery |
| Test matings failed to produce homozygotes, indicating that this is a recessive embryonic lethal mutation. No abnormal phenotype has been reported in the heterozygote. | ||
| 006010 | B6Ei.129-Wnt4tm1Amc/Ei | Cryopreserved - Ready for recovery |
| 002044 | B6Ei.Cg-Atp7aMo-blo/J | Cryopreserved - Ready for recovery |
| Female mice heterozygous for the blotchy alleles (Atp7aMo-blo) are viable and fertile. They have irregular patches of light-colored fur. Hemizygous males and homozygous females have reduced viability and many are infertile. Hemizygotes and homozygotes are light all over with no blotching, are usually small, and occasionally have deformed hindlegs.. Most hemizygotes and homozygotes have defective elastin in the aorta and usually die with aortic aneurysm. Hemizygous males have enlarged air spaces in the lung (emphysema), probably because of defective elastin and collagen. Skin collagen and aortic elastin have defective crosslinking at the step at which lysine residues are converted to aldehydes. Hemizygous males have a deficiency of noradrenalin in the brain, probably because a deficiency of copper shown to exist in the brain causes defective activity of the enzyme dopamine-beta-hydroxylase. Copper absorption from the gut and hepatic copper concentration are reduced to ..... For more information please see the full phenotype on the strain data sheet | ||
| 006305 | B6Ei.Cg-Nr0b1tm1.1Lja Tg(Sry)2Ei Chr YAKR/EiJ | Cryopreserved - Ready for recovery |
| 002622 | B6Ei.Cg-pwk/J | Cryopreserved - Ready for recovery |
| Homozygous patchwork mice have hairs that are either totally white or totally pigmented, but no diluted coloration of the hair. On a nonagouti background this produces a salt-and-pepper appearance from white hairs juxtaposed with black hairs. This occurs throughout the coat and does not vary by anatomic region. The absence of pigment in the white hairs is due to an absence of melanocytes in the hair follicles of the white hairs; functioning melanocytes are present in the hair follicles of the black hairs. The absence of melanotyes in the follicles of the white hairs results from premature death of melanoblasts during development. TUNEL staining indicates that this melanoblast death is apoptotic and begins around embryonic day 18.5. This suggests that patchwork melanoblasts can survive and function if enough survive, but fail to survive when adequately reduced in number. Analysis of aggregation chimeras between patchwork and albino donors revealed gray hairs at the boundaries bet ..... For more information please see the full phenotype on the strain data sheet | ||
| 002605 | B6Ei.MA-A Chr YMA/MyJ/EiJ | Cryopreserved - Ready for recovery |
| This consomic is valuable in the study of sex determination. The TOrl /+ XYMA/MyJ offspring, from the cross of B6.Cg-TOrl /+ females with C57BL/6JEi-Chr YMA/MyJ/EiJ males, are sex reversed, with ovarian tissue development. | ||
| 006449 | B6Ei.P-Ass1fold/GrsrJ | Cryopreserved - Ready for recovery |
| At 1 week of age fold homozygotes lack hair such that they can be distinguished from their control littermates, and at 2 weeks of age fold homozygotes have wrinkled skin. A sparse coat does grow in. Homozygotes are smaller than littermate controls throughout their lives and most die at 3 weeks of age. | ||
| 003544 | B6Ei;AKR-rhg/J | Cryopreserved - Ready for recovery |
| Homozygotes are much smaller than their wildtype littermates at birth and hair development is retarded at 3 weeks of age, but similar to normal by 10 weeks of age. | ||
| 000551 | B6EiC3 a/A-Tbx15de-H/J | Cryopreserved - Ready for recovery |
| 000557 | B6EiC3-+ a/LnpUl A/J | Cryopreserved - Ready for recovery |
| 000553 | B6EiC3Sn a/A-Egfrwa2 Wnt3avt/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the spontaneous waved 2 mutation (Egfrwa2) are recognizable at 2 to 3 days by curly whiskers. The first coat is waved but later coats are not; vibrissae usually remain curled and the guard hairs curved. Some homozygotes have eyelids open at birth. Fertile mutant females have impaired lactation. Mice homozygous for the vestigial tail spontaneous mutation (Wnt3avt) have very short tails, few presacral vertebrae, and abnormal formation of the lumbar vertebrae. | ||
| 002432 | B6J x B6.C-H2-Kbm1/ByJ-Cdh23v-J/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the waltzer Jackson spontaneous mutation (Cdh23v-J) exhibit the circling, head-tossing, deafness, and hyperactivity typical of circling mutants. Homozygous mutant mice are very similar to other waltzer mutants (Cdh23v and Cdh23v-2J). Most homozygotes are deaf from birth. Abnormalities of the inner ear include degeneration of the organ of Corti, spiral ganglion, stria vascularis, and saccular macula. Double heterozygotes with shaker-1 (Cdh23v/+ Myo7ash1/+) become deaf by 3 to 6 months of age. Double heterozygotes show degeneration in the organ of Corti, stria vascularis, and spiral ganglion similar to that of Cdh23v-J homozygotes, but less severe and with much later onset. Viability and breeding ability are somewhat reduced. | ||
| 009685 | B6N.129S1(Cg)-Tnkstm1.1Yjc/J | Cryopreserved - Ready for recovery |
| Homozygous (TANK1-/-) mice are viable and fertile with no reported developmental or gross physical abnormalities. As exon 1 is deleted from the targeted allele, no full length protein (TANK1) is detected in thymus, testis or spleen tissues. Because the deletion does not encompass the potential alternative promoter between exons 4-5, an alternative transcript and subsequent low molecular weight protein (TANK1a) is expressed in testis (but not in other assayed tissues). These TANK1-mutant mice may be useful for studying the post-translational modification of proteins associated with cell cycle, mitosis, telomere length maintenance/aging, DNA replication/repair, cellular senescence, apoptosis, tumorigenesis, vesicle trafficking, and insulin responses. These TANK1-mutant mice may also be used along with TANK2-mutant mice (Stock No. 006200). | ||
| 012889 | B6N;TKDU-Myo5ad Cacna2d2du/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the ducky spontaneous mutation (Cacna2d2du) show a waddling or reeling gait and a tendency to fall to one side. Homozygous mutant mice are slightly smaller than normal and may occasionally have seizures. Histologically, homozygotes show severe dysgenesis of hindbrain and spinal cord, myelin deficiency that is more marked the more caudad the CNS region, and demyelination and axonal dystrophy in selective fiber systems including the spinocerebellar and vestibulospinal tracts. There is a deficit of cerebrosides in the hindbrain and spinal cord, but other lipid classes are present in normal amounts relative to the size of the CNS. Viability is somewhat less than normal. Males living to maturity may be fertile, but are poor breeders. Females rarely breed. In mice homozygous for either Cacna2d2du or Cacna2d2du-2J, no loss of Purkinje cells or granular cells was seen by immunohistochemistry for calbindin or calretinin r ..... For more information please see the full phenotype on the strain data sheet | ||
| 007555 | B6SJL-Bicc1tm1Emdr/J | Cryopreserved - Ready for recovery |
| Homozygous mutants survive a few weeks after birth, but display polycystic kidney disease. LacZ expression was observed in the Henson's node at embryonic day 7.5 and in the endoderm of the gut at embryonic day 8.5 | ||
| 007554 | B6SJL-Bmpertm1Emdr/J | Cryopreserved - Ready for recovery |
| Homozygous mutant mice die at birth due to respiratory failure. They display extensive skeletal abnormalities. At a lower penetrance, mutants show microphthalmia and exencephaly. RT-PCR was used to confirm expression in mouse embyronic fibroblasts. | ||
| 007552 | B6SJL-Chrdtm1Emdr/J | Cryopreserved - Ready for recovery |
| Mice that are homozygous for the targeted mutation die at birth. They display an extensive array of head and neck congenital malformations simlar to the DiGeorge and Velo-Cardio-Facial syndromes. At low penetrance, they show early lethality and a ventralized gastrulation phenotype. No transcription was found by in situ hybridization of gastrulation phase embryos. Some heterozygotes display a circling behavior. | ||
| 007556 | B6SJL-Gsctm1Pgr/J | Cryopreserved - Ready for recovery |
| Homozyous mutant mice are small and die within 24 hours of birth and display defects of the lower mandible and associated musculature, the inner ear and external audiatory meatus. | ||
| 007553 | B6SJL-Twsg1tm1Emdr/J | Cryopreserved - Ready for recovery |
| Homozygotes are viable and fertile, but are small in size and display mild vertebral abnormalities and osteoporosis. At lower penetrance, homozygous mutants die at birth and display holoprosencephaly. A loss of expression was confirmed by RT-PCR of mutant E13.5 embryonic cells. | ||
| 003221 | BALB/cAnBr-Tg(H2KePCC)2403Stoe/J | Cryopreserved - Ready for recovery |
| PCC transgenic mice are viable and fertile. Pigeon cytochrome c was engineered for expression in lymphoid tissues of transgenic mice in two forms: one in which it is expressed as a type II plasma membrane protein (mPCC), and a second in which it was targeted to the mitochondria after cytoplasmic synthesis (ePCC). This strain carries the ePCC construct. (For mice carrying the ePCC construct, see strain 003240). PCC is expressed in thymus, spleen and LPS stimulated B cells in both strains of mice. mRNA expression levels are higher in mPCC mice than in ePCC mice. However, tolerance is induced in the thymus of both strains, regardless of antigen compartmentation. | ||
| 004317 | BALB/cBy-Gulosfx/J | Cryopreserved - Ready for recovery |
| The sfx phenotype is not apparent until shortly after weaning age. By 26-30 days of age, homozygotes display decreased mobility, diminished weight gain, and more scruffy appearance than their heterozygous or wildtype siblings. Dissection reveals smaller spleen and thymus and increased kidney and brain weights. A reduction in bone mass is accompanied by a paucity of mature osteoblasts on bone surfaces, a subtle reduction of chrondrocytes in epiphyseal-plate columns, growth plate arrest in long bones, and other architectural abnormalities. Bone analysis shows sponteneous fractures both in large bones and smaller ones such as metacarpals. Serum analysis shows a decrease in calcium, inorganic phosphate, alkaline phosphatase, osteocalcin, and insulin-like growth factor 1. These homozygotes also have a reduction in the number of both the red and white blood cells. Homozygotes are fragile and must be handled with great care. (Beamer et al., 2000.) | ||
| 003922 | BALB/cByJ-Clcn1adr-mto2J jgl/GrsrJ | Cryopreserved - Ready for recovery |
| Mice homozygous for the jagged tail-like (jgl) mutation are easily characterized by their kinked tails that are recognizable by 10 days of age. Full body X-rays revealed exostosis of the vertebrae near the tail tip and in the phalanges of all 4 feet and abnormal vertebral bodies were also reported in two 5 month old homozygotes. Both female and male reproductive organs are smaller than normal with the males showing severe atrophy of the seminiferous tubules and hyperplasia of Leydig cells. Although most homozygotes are not fertile, a few have produced litters. Homozygotes also have atrophic spleens, particularly the white pulp. | ||
| 006274 | BALB/cByJ-Dfb/J | Cryopreserved - Ready for recovery |
| Mice heterozygous for the deaf ballerina mutation display circling and head tossing behavior, are deaf, and lack the corpus callosum. Heterozygous females do not breed. | ||
| 002088 | BALB/cByJ-Herc2J/J | Cryopreserved - Ready for recovery |
| Herc2J, Jackson; spontaneous; recessive: Arose spontaneously on a BALB/cJ background. Homozygous mutants are smaller than littermates and have a subtle tremor that is recognizable by 2.5 to 3 weeks of age. The visible tremor is not progressive with age. Males are functionally sterile and have reduced sperm numbers and sperm abnormalities similar to those seen in mice with the pink-eyed dilution deletion alleles, Herc2p-bs, Herc2p-6H, and Herc2p-25H. In vitro fertilization was not attempted. Females have poor fertility but ovaries are functional when transplanted into histocompatible hosts. Ovaries may exhibit fewer and smaller copora lutea based on limited sample. Herc2J was allele tested with Herc2p-6H/Herc2p-cp and with Herc2PJ/Herc2P-bs and found to be allelic with Herc2p-6H and Herc2p-bs ..... For more information please see the full phenotype on the strain data sheet | ||
| 001592 | BALB/cByJ-Lpin1fld/J | Cryopreserved - Ready for recovery |
| The original fld (fatty liver dystrophy) mutation arose spontaneously at The Jackson Laboratory in the Animal Resources BALB/cByJ colony in 1981, and was maintained by sibling mating for 47 generations, then backcrossed once in 2001 to a male BALB/cByJ via homozygous ovarian transplant, then sibling mating resumed. Homozygotes can be identified soon after birth by an enlarged, pale liver and smaller overall body size. Although the hepatic steatosis resolves to normal at wean age, a neurological phenotype manifests by day 14 as a tremor and an unsteady gait which is most pronounced in the rear legs (Sweet et al. 1988). Both phenotypes stem from improper cellular processing of lipid. fld/fld mice are smaller than their normal littermates by three days of age and remain smaller throughout life. Hair growth is retarded and abnormal resulting in a ruffled, unkempt appearance in the adult. Homozygotes experience increased mortality between 19 and 35 days of age. A ..... | ||
| 007971 | BALB/cJ-Ppp1r13lwa3-J/J | Cryopreserved - Ready for recovery |
| Homozygotes have a coat that is sparse but not wavy. They are born with their eyelids open and develop vascular corneas. They also develop early-onset cardiomyopathy, which leads to congestive heart failure. Female homozygotes have not successfully bred and male homozygotes have significantly reduced fertility, producing one or two litters in their lifetime at best. | ||
| 006019 | BALB/cJ-ssl/GrsrJ | Cryopreserved - Ready for recovery |
| Mice homozygous for the small swaying lethal mutation are smaller than control littermates and ataxic such that they lean and fall over on their side. This is evident by 12 to 15 days of age. They do not survive beyond 4 to 5 weeks of age. | ||
| 001311 | BALB/cWtEiJ | Cryopreserved - Ready for recovery |
| Experimental allergic encephalitis (EAE) is an autoimmune disease of the nervous system induced by sensitization of experimental animals with homogenates of whole brain and/or spinal cord tissue, myelin, or myelin components. Many of the clinical and histologic aspects of EAE are similar to those of multiple sclerosis (MS), making EAE a useful MS model (Alvord et al., 1984). Mice of different sublines of the BALB/c inbred strain exhibit marked differences in the incidence and severity of EAE induced by immunization with spinal cord homogenate (Hickey et al., 1986) or with myelin proteolipid protein (PLP) (Tuohy et al., 1988). The most severe response to PLP was development in nine of ten BALB/cPt mice of rapid onset, severe clinical disease with limb paralysis accompanied histologically by meningeal and perivascular infiltration by mononuclear and polymorphonuclear lymphocytes, particularly of the spinal cord. At the opposite end of the spectrum, none of ten BALB/ ..... For more information please see the full phenotype on the strain data sheet | ||
| 000652 | BDP/J | Cryopreserved - Ready for recovery |
| 005736 | BKS(Cg)-calre/GrsrJ | Cryopreserved - Ready for recovery |
| The curly coat of this spontaneous homozygous mutant mouse (BKS.Cg m +/+ Leprdb /J-calre/J) is recognized at 10-12 days of age when hair is fully covering the body. At 2 weeks of age the coat of homozygous mutants looks very curly, and the mutants also have curly vibrissae. After several weeks, the curly phenotype is reduced; the hair becomes fuzzy in appearance, and the vibrissae straighten out and appear normal. Some mutant mice have no whiskers at wean age. Also, in older homozygous and heterzygous mice more whiskers are lost, and homozygous mutants lose more hair as they age. Homozygous mutant mice live normal life spans and breed normally. | ||
| 005898 | BKS(Cg)-trls/GrsrJ | Cryopreserved - Ready for recovery |
| Homozygotes can usually be identified at 14 days of age by a tremor and smaller than normal body size. Most homozygotes die around 3 weeks of age, although some have lived longer. | ||
| 001049 | BKS.Cg-mea2J Dock7m/+ +/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the meander tail 2J spontaneous mutation (mea2J) have a phenotype that is very similar to the original meander tail (mea) and meander tail J mice (meaJ). Homozygous mutant mice have variably shortened and kinked tails. At about 2 weeks an unsteadiness of gait, often amounting to a tremor, appears. Homozygotes are smaller and less vigorous than wiltype controls but are fertile. The anterior lobe of the cerebellum is disorganized. Purkinje cells are scattered, some cellular layers never form, and Bergmann glial processes are absent. The cytoarchitecture of the posterior lobe is normal, and the transition from normal to disorganized areas is sharply demarcated. This strain is maintained in linkage with the misty coat color mutation (Dock7m). | ||
| 001192 | BKS.Cg-meaJ Leprdb +/+ + Dock7m/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the meander tail-J spontaneous mutation (meaJ) have variably shortened and kinked tails. At about two weeks an unsteadiness of gait, often amounting to a tremor, appears. Homozygous mutant mice are smaller and less vigorous than wild-type controls but are fertile. The anterior lobe of the cerebellum is disorganized. Purkinje cells are scattered, some cellular layers never form, and Bergmann glial processes are absent. The cytoarchitecture of the posterior lobe is normal, and the transition from normal to disorganized areas is sharply demarcated. This mutation occurred in the BKS.Cg-Leprdb +/+ Dock7m strain so it is also segregating for the diabetes (Leprdb) and misty (Dock7m) mutations. See strain description for Stock No. 000642 for more information. | ||
| 000250 | BNT/LeJ | Cryopreserved - Ready for recovery |
| In the early 1950s, a wild type female from the Namru strain was crossed with a bald hrba/hrba male and one of the pups produced was a male with a bent tail. Pedigree tests revealed the underlying mutation to be semidominant and carried on the X chromosome. The predominant phenotypic trait of kinked, shortened tails results from mis-formed, smaller, and absent tail vertebrae. Heterozygous females have varied expressivity spanning a broad phenotypic range including mice with no apparent phenotype and mice with multiply kinked and shortened tails. Hemizygous males have the highest expressivity; the tail is shortened in some cases to half the normal length and in the most severe cases the kinks in the tail will cause the tail to bend sharply. In males the tail kinks are more common in the distal than the proximal half of the tail. Heterozygous females are fertile, but hemizygous males and homozyous females have decreased viability and fertility. T ..... For more information please see the full phenotype on the strain data sheet | ||
| 011114 | C(TSJ)-Rpl38Ts/GrsrJ | Cryopreserved - Ready for recovery |
| Homozygosity for the tail short mutation causes early embryonic lethality. Heterozygotes are smaller than normal and have variably shortened tails with flexures. Skeletal abnormalities are found with varying expressivity including vertebral fusions, bilateral asymmetry of the length of the humerus and tibia, triphalangy of digit 1 of the forefoot, an extra pair of ribs, and craniofacial defects. Embryonic anemia and reduced fertility are also found. | ||
| 013539 | C.129(B6)-Mapk9tm1.1Rjd/J | Cryopreserved - Ready for recovery |
|
In this strain, codon 108 in exon 6 of the endogenous mitogen-activated protein kinase 9 (Mapk9 or c-Jun N-terminal kinase 2 (Jnk2)) gene was mutated from a Methionine (ATG) to a Glycine (GGG). Homozygous mice are viable, fertile, and normal in size. Jnk2 exhibits widespread expression and is involved in the regulation of cellular proliferation, transformation, and apoptosis, and has been implicated in some neurodegenerative diseases, diabetes, and arthritis. Phosphorylation of JNK2 by other MAPK kinases is required for activation. This mutation in JNK2MG/MG mice expands the size of the ATP pocket of JNK2, increasing sensitivity to inactive small molecule inhibition by PP1, allowing for specific reversible JNK2 inhibition. These mice exhibit a loss of JNK2 signaling while maintaining expression, and show an increase in cellular proliferation, motility, and survival. These mice may be useful for studying MAP kinase signaling pathways, JNK activatio ..... For more information please see the full phenotype on the strain data sheet | ||
| 007810 | C.129-Stat5btm1Hwd/J | Cryopreserved - Ready for recovery |
| Mice that are heterozygous for the targeted mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. No gene product (mRNA or protein) is detected by Northern and immunoblot analysis of liver, spleen, mammary gland, thymus, kidney or skeletal muscle from homozygous animals. Levels of the closely related Stat5a gene products (mRNA and protein) are unaffected in thymus and spleen. At 4 - 5 weeks of age, male homozygotes are smaller in size and have a reduced body weight (27% lighter than wildtype controls) when compared to wildtype. Female homozygotes exhibit spontaneous abortion between day 8 and 17 of pregnancy and have impaired lactation. Pups (independent of genotype) born to heterozygous females have higher perinatal death than pups born to wildtype females. Some homozygotes have pale and enlarged livers. Homozygotes have less adipose tissue than wildtype controls, exhibit abnormal gene expression in liver, reduced insuli ..... For more information please see the full phenotype on the strain data sheet | ||
| 003478 | C.129P2-Cbx2tm1Cim/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the targeted mutation show greatly retarded growth, premature death, homeotic transformations of the axial skeleton, sternal and limb malformations and arrested T cell development. Null mice show an aggravation of the skeletal malformations when treated to retinoic acid at embryonic day 7.5. | ||
| 008440 | C.129S2(B6)-Seletm1Hyn Selltm1Hyn Selptm1Hyn/J | Cryopreserved - Ready for recovery |
| Mice that are homozygous null for the Sele, Sell and Selp genes are viable, fertile, normal in size, and do not display any gross physical or behavioral abnormalities at birth. As mice mature, however, they become susceptible to mucocutaneous infections that eventually lead to death. No Sele, Sell or Selp gene products (mRNA or protein) are detected. Leukocytes from these mice exhibit a deficiency in the ability to interact with, and roll along, the venular wall endothelium. This deficiency in the crucial first step of leukocyte recruitment to surrounding tissues in response to infection or injury contributes to an elevated leukocyte count in the peripheral blood. Delays in neutrophil and eosinophil recruitment to the peritoneum in response to thioglycollate and ragweed allergen, respectively, have been observed, specifically. These mice are suitable for use in research applications studying leukocyte homeostasis, infectious diseases and inflam ..... For more information please see the full phenotype on the strain data sheet | ||
| 008438 | C.129S2(B6)-Seletm1Hyn Selptm1Hyn/J | Cryopreserved - Ready for recovery |
| Mice homozygous for both the Seletm1Hyn Selptm1Hyn mutations are viable and fertile. They are characterized by leukocytosis, spontaneous bacterial infections, dermatitis and defective leukocyte recruitment in many models of inflammation. In an attempt to offer alleles on well-characterized or multiple genetic backgrounds, alleles are frequently moved to a genetic background different from that on which an allele was first characterized. This is the case for the strain above. It should be noted that the phenotype could vary from that originally described. We will modify the strain description if necessary as published results become available. | ||
| 008699 | C.129S2-Itgb3tm1Hyn/J | Cryopreserved - Ready for recovery |
| Mice that are homozygous for this targeted allele are viable and fertile. No gene product (protein) is detected on the surface of platelets. Significant (50%) embryonic lethality attributed to fetal hemorrhaging and placental defects is observed. Until three weeks of age, additional pup loss may occur due to hemorrhaging in the skin and gastrointestinal tract. Gastrointestinal tract bleeding is commonly observed in adults and is frequently associated with an enlarged spleen. Erythrocyte number, hemoglobin, hematocrits and thrombus formation are all reduced while bleeding time is prolonged. Varying degrees of liver and kidney necrosis are also observed. Although increased numbers of osteoclasts are observed (3.5 fold over that seen in heterozygotes) they appear to be dysfunctional, having a reduced ability to resorb whale dentin in vitro. Mice are osteosclerotic and hypocalcemic. Enhanced tumor angiogenesis and vascular endothelial growth factor-induced blood vessel growth are observed. ..... For more information please see the full phenotype on the strain data sheet | ||
| 002907 | C.129S4(B6)-Col3a1tm1Jae/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the Col3a1tm1Jae targeted mutation exhibit a shorter life span with approximately 10% of homozygous mutant mice surviving to adulthood. The major cause of death of is rupture of the major blood vessels. | ||
| 002368 | C.129S4(B6)-Inhbbtm1Jae/J | Cryopreserved - Ready for recovery |
| Homozygous mice are deficient in activin B (betaB:betaB), activin AB (betaA:betaB) and inhibin B (alpha:betaB). Heterozygotes appear normal. Homozygous mutants complete embryonic development and are viable. They are born, however, with open eyes which leads to the development of eye lesions. Homozygous males breed normally but mutant females exhibit a profoundly impaired reproductive ability, characterized by perinatal lethality of their offspring. Mutant females have an increased gestation time and decreased nursing ability that may be the result of impaired milk let-down. There is an upregulation of beta-A activin which may contribute to the phenotype. | ||
| 002522 | C.129S4-Myf5tm1Jae/J | Cryopreserved - Ready for recovery |
| Mice homozygous for a targeted mutation in the Myf5 gene die perinatally from respiratory failure due to improper development of the rib cage. Ribs are truncated and the sternum is shortened, with no sternebral segmentation and no connection to the ribs. Mutant mice show no obvious alterations in the vertebral column in comparison to wild type controls, and there are no skeletal muscle abnormalities apparent at birth. | ||
| 002523 | C.129S4-Myod1tm1Jae/J | Cryopreserved - Ready for recovery |
| Mice that are homozygous for the targeted mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. Histological examination of skeletal muscle reveals no morphological abnormalities. Northern analysis indicates that myogenic factor 5 mRNA levels are elevated in postnatal homozygous mutant mice. This mutant mouse strain may be useful in studies examining the factors involved in differentiation of skeletal muscle. | ||
| 008237 | C.129S4-Seletm1Dmil/J | Cryopreserved - Ready for recovery |
| Mice homozygous for this E-selectin mutant allele (E-/-) are viable and fertile with normal circulating leukocyte and platelet profiles. While several transcripts are generated from the mutant locus (due to transcription from the endogenous promoter and/or bidirectional transcription initiated from the pgk promoter in the neo-resistance cassette), these frame-shifted transcripts are non-functional with several predicted stop codons. In contrast to wildtype mice, no protein product is detected in several tissues isolated from LPS-injected homozygous mice. Homozygous mice exhibit abnormal responses to inflammatory stimuli. E-selectin deficiency results in endostatin unresponsiveness (as shown in corneal angiogenesis (mixed B6;129 genetic background) and aortic explant (C57BL/6 congenic background) experiments). These E-selectin mutant mice may be useful in studying inflammation, leukocyte rolling, leukocyte-endothelial adhesion, angiogenesis, and cancer.
Of note, E-sel ..... | ||
| 002794 | C.129S4-Tfap2atm1Jae/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the Tcfap2atm1Jae mutation die around embryonic day 9.0-9.5 due to failure of cranial closure. These embryos also show multiple severe developmental defects of the face, skull, sensory organs, and cranial ganglia. There is increased apoptosis in the midbrain of day 9 embryos, coinciding with failure of cranial closure. | ||
| 006245 | C.Cg-Tg(SFTPC-rtTA)5Jaw/J | Cryopreserved - Ready for recovery |
| Hemizygous transgenic mice are viable, fertile, normal in size, and do not display any gross physical or behavioral abnormalities. These transgenic mice express the reverse tetracycline-controlled transactivator (rtTA) protein under the control of the human SFTPC, surfactant, pulmonary-associated protein C, promoter. rtTA activity is detected in lung peripheral epithelial cells from adult mice and in embryos from pregnant females treated with the tetracycline analog, doxycycline (dox). In the latter, rtTA-induced expression of a luciferase reporter under the regulation of a tetracycline-responsive promoter (TRE; tetO) has been detected as early as embryonic day 10.5. When hemizygotes are mated to a second transgenic strain carrying a gene of interest under the regulatory control of a TRE, expression of the target gene in the bitransgenic offspring may be regulated by dox; in the presence of dox, transcription of the target gene is induced in cells where rtTA is expressed. This ..... For more information please see the full phenotype on the strain data sheet | ||
| 006242 | C.Cg-Tg(Scgb1a1-rtTA)1Jaw/J | Cryopreserved - Ready for recovery |
| Mice hemizygous for the CCSP-rtTA transgene are viable, fertile, normal in size, and do not display any gross physical or behavioral abnormalities. These transgenic mice express the reverse tetracycline-controlled transactivator (rtTA) protein under the control of the rat Scgb1a1, secretoglobin, family 1A, member 1 (uteroglobin), gene promoter. In situ hybridization detects rtTA gene product (mRNA) in bronchial and type II epithelial cells of lung tissue from adult transgenic mice treated with doxycycline for seven days. Induction of transgene expression is detected as early as postconception day 14 when the pregnant female is treated with doxycycline. When mated to a second transgenic strain carrying a gene of interest under the regulatory control of a tetracycline-responsive promoter element (tetO), expression of the target gene may be regulated by the tetracycline analog, doxycycline (dox); in the presence of dox, transcription of the target gene is induced in cells where rtT ..... For more information please see the full phenotype on the strain data sheet | ||
| 013059 | C3.B6-Erbb3m3329Ddg/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the Erbb3 (v-erb-b2 erythroblastic leukemia viral oncogene homolog 3 (avian)) I449S loss-of-function mutation are embryonic lethal at day 14.5 (E14.5). Mutant embryos exhibit extreme defasciculation of all major peripheral branches of the dorsal root ganglia (DRG). While the major dorsal and lateral projections form and are dissociated, all of the secondary and tertiary branches are absent. Upon reaching their superficial target, the axonal projections are splayed out almost randomly within the dermatome. Additionally, mutant embryos have complete loss of the mandibular branch of the trigeminal ganglia with defasciculation of the ophthalmic branch. This strain may be useful in studies of nerve development. | ||
| 001768 | C3.Cg-Irs1Sml H2b/GrsrJ | Cryopreserved - Ready for recovery |
| The small mutation causes hyperinsulinemia with only mild insulin resistance, a paucity of body fat, deficiencies in bone development and homeostasis, and hearing loss. Homozygotes can be distinguished by 2 weeks of age by their smaller body size and thin short tails, and adult homozygotes are visibly smaller with a tail that is 20% shorter than in wild-type controls. Hearing loss was shown through increased ABR threshold values when assessed between 8 and 12 weeks of age. The skeletal defects include shortened femurs with smaller growth plates, decreased cortical and trabecular thickness and abnormal trabecular number, with an increase in the number of osteoclasts and osteoblasts per bone perimeter but impaired osteoblast proliferation and differentiation in culture. This spontaneous point mutation is semidominant in some aspects of phenotype, unlike targeted mutations of this gene. Heterozygotes are statistically smaller than wild-type controls, but the severity of dwarfing is not ..... For more information please see the full phenotype on the strain data sheet | ||
| 005327 | C3.Cg-a Zfp191hmcns/GrsrJ | Cryopreserved - Ready for recovery |
| Mice homozygous for the hmcns mutation have diminished myelin in the central nervous system, although peripheral axons appear normally myelinated. There are abundant late-stage process-extending oligodendrocytes, but these fail to myelinate the central nervous system and have diminished expression of an array of myelin-related genes. Homozygotes can be identified by approximately 14 days of age by a tremor and tonic seizures. At 14 days of age the brain and spinal cord appear smaller than normal and lack white matter. Most homozygotes die by 25 days of age. | ||
| 000244 | C3Fe(B6)-Fbn2fp/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the recessive fused phalanges mutation (Fbn2fp) have syndactyly of the second, third, and/or the fourth digits of the hindlimbs and sometimes also the forelimbs, and this trait is usually not bilaterally symmetrical (Hummell and Chapman, 1971; Chaudhry et al., 2001). This syndactyly likely results from defective mesenchyme differentiation rather than failed interdigital apoptosis (Arteaga-Solis et al., 2001). Although western blot analysis fails to detect FBN2 in Fbn2fp homozygotes, rotary shadowing electron microscopy identifies abundant, morphologically normal microfibrils in adult skin and lung (Chaudhry et al., 2001). | ||
| 012946 | C3Fe.B6-Scn8a8J/Frk | Cryopreserved - Ready for recovery |
| Mice that are homozygous for this chemically-induced allele exhibit small size, a weak and unsteady gait and a high incidence of spike wave discharges (SWD). On a mixed C57BL/6J and C3HeB/FeJ background, SWD burst frequency is recorded at 4-5 Hz. Homozygous mice die by 21 days, however, with additional care (see husbandry), mice can survive to 7 weeks. In mixed background heterozygotes, the SWD burst frequency is 7-9 Hz; SWD are characterized by high amplitude, significant duration and high frequency and occur between periods of locomotor activity. This mutant mouse strain may be useful in studies of human absence epilepsy.
In an attempt to offer alleles on well-characterized or multiple genetic backgrounds, alleles are frequently moved to a genetic background different from that on which an allele was first characterized. It should be noted that the phenotype could vary from that originally described. We will modify the strain description if necessary as published result ..... | ||
| 003798 | C3Fe.Cg-Scn8amed/J | Cryopreserved - Ready for recovery |
| 002758 | C3Fe.Cg-scb/J | Cryopreserved - Ready for recovery |
| Scabby is a recessive mutation that maps to chromosome 8. Homozygotes display scar tissue on the skin and tail shortly after birth with defects in hair growth in these areas. Transverse stripes particularly over the rump may be seen in the juvenile coat, but are generally absent in the adult. Webbed feet and a short and kinky or constricted tail may also be seen. Homozygotes are viable and fertile although males breed better than females. (Searle and Beechey, 1977.) | ||
| 000200 | C3FeB6 A/Aw-J-Ankank/J | Cryopreserved - Ready for recovery |
| The progressive ankylosis allele (ank) is a spontaneous recessive mutation that causes a severe phenotype of joint calcification and degeneration. Few homozygotes survive beyond 5 months of age, although the adults can breed. Generally no more than 2 litters are produced by homozygotes of either sex. At 4 or 5 weeks of age, homozygotes can be identified by their inability to grasp a wire cage lid with their front paws when suspended above it. The joints swell with a milky fluid, and undergo a process proceeding through mononuclear inflammatory infiltration, hydroxyapatite deposition and increased calcification, hyperplasia, and fibrous and bony ankylosis. (for details see Mahowald et al., 1989; Hakim et al., 1984; Sweet and Green, 1981.) The front feet are affected before the hind feet and the phenotype is more severe in the most distal joints of the limbs. Hyperplasia and degeneration of the joint tissues, and ankylosis occur progressively, decreasing mobility and resulting i ..... For more information please see the full phenotype on the strain data sheet | ||
| 000291 | C3FeLe.Cg-a/a Hm KitlSl Krt71Ca-J/J | Cryopreserved - Ready for recovery |
| The multiple steel mutations (KitlSl) behave in a semidominant fashion and cause deficiencies in pigment cells, germ cells, and blood cells paralleling those caused by the Kit locus mutations (dominant spotting alleles). Most of the alleles at steel locus cause severe anemia in utero and death by 15 to 16 days of gestation in homozygous mutant mice. However, compounds of two steel mutants (e.g. KitlSl/KitlSl-d) are viable, black-eyed white, are usually sterile in one or both sexes, and have severe macrocytic anemia. Heterozygous steel mice have a diluted coat color with a small amount of white spotting, are viable and fertile, and may have a slight macrocytic anemia. Primordial germ cells are absent in the nonviable steel homozygotes and severely reduced in steel heterozygotes. Mast cells are virtually absent in skin and other tissues of steel mutant mice. Tumors tend to develop in germ-cell-deficient ovaries with adva ..... For more information please see the full phenotype on the strain data sheet | ||
| 001904 | C3H-Atcayji-hes/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the hesitant spontaneous mutation (Atcayji-hes) can be recognized at 14 days of age by their slightly smaller size and hesitant walking motion. From 3 weeks of age on, the hindlimbs of homozygous mutant mice hesitate after lifting and then are placed flat on the surface and stiffly extended causing the posterior to rise. No body tremors, spasticity, or muscle degeneration is observed. Homozygotes of both sexes are fertile, although fertility in males may be reduced. | ||
| 008676 | C3H/HeJ-Hmx1mpe/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the misplaced ears mutation have low set, laterally protruding ears. Fewer homozygotes than standard Mendelian genetics predicts are produced from heterozygous intercrosses. This strain is a model for oculo-auricular syndrome. | ||
| 000627 | C3H/HeJ-KitW-x/J | Cryopreserved - Ready for recovery |
| 003401 | C3H/HeJ-Lpin1fld-2J/J | Cryopreserved - Ready for recovery |
| Homozygous fatty liver dystrophy (fld) mice have an enlarged, fatty liver and hypertriglyceridemia which resolve to normal during the weaning transition. However, decreased overall size, decreased lipid in the fat pads, and a peripheral neuropathy persist throughout the lifespan. This peripheral neuropathy manifests as a tremor and an unsteady gait shortly after 10 days of age and worsens with age. The fld neuropathy is specific to the peripheral nervous system. Electron microscopy of sciatic nerves revealed thin, poorly compacted myelin sheaths, hypertrophic Schwann cells, myelin debris, degenerating axons, bands of Bugner, and regenerative clusters, but no evidence of inflammation (Langner et al, 1991). Western blot analysis of sciatic nerve from two-to-three month old fld/fld mice showed a 7-13-fold reduction in myelin P0, a vast increase in apoE, an increase in GAP-43, and no detectable myelin P2. It was also noted that a ..... For more information please see the full phenotype on the strain data sheet | ||
| 007782 | C3H/HeJ-Pofut1cax/J | Cryopreserved - Ready for recovery |
| 000510 | C3H/HeJ-Pou1f1dw-J/J | Cryopreserved - Ready for recovery |
| Mice homozygous mice for the dwarf Jackson spontaneous mutation (Pou1f1dw-J) have a phenotype very similar to mice homozygous for the original dwarf mutation (Pou1f1dw). Homozygous mutant mice are characterized by severe proportional dwarfing, sterility, and hypothyroidism. Adult dwarf mice are about one-fourth to one-third the size of wildtype mice. There is a lack of growth hormone, prolactin and thyroid stimulating hormone producing cells in the anterior pituitary leading to severe endocrine deficiency of these hormones. Homozygous mutant mice show a transient loss in cortical thymocytes associated with the primary defect in anterior pituitary. | ||
| 006247 | C3H/HeJ-sevr/GrsrJ | Cryopreserved - Ready for recovery |
| Mice homozygous for the severe runting mutation can be identified by their unusually small body size by approximately 2 weeks of age. Many homozygotes die by wean age and slight tremors are often observed before death. | ||
| 003525 | C3H/HeOuJ-Gusbmps-2J/BrkJ | Cryopreserved - Ready for recovery |
| Mice homozygous for the Gusmps-2J allele exhibit a phenotype similar to Gusmps homozygotes including skeletal deformities, lysosomal storage disease and elevated levels of the lysosomal enzymes alpha-galactosidase and beta-hexosaminidase (Gwynn et al., 1998). Like the Gusmps heterozygote, Gusmps-2J heterozygotes have a 26-85% reduction in beta-glucuronidase activity. depending on tissue type (Gwynn et al., 1998, Birkenmeier et al., 1989). Homozygotes of both alleles have beta-glucuronidase activity levels at 1% of the control level. Unlike the Gusmps homozygote, Gusmps-2J homozygotes live longer, are fertile and can raise litters to weaning age (Gwynn et al., 1998). In addition to a difference in the nature of the mutations between these two alleles, it is also likely that the phenotypic differences are the result of strain background. C3H/HeOuJ mice carry ..... For more information please see the full phenotype on the strain data sheet | ||
| 000316 | C3H/HeSn-Gpr161vl/J | Cryopreserved - Ready for recovery |
| 001431 | C3H/HeSn-ocd/J | Cryopreserved - Ready for recovery |
| 002235 | C3H/HeSnJ-Ctnna2cdf/J | Cryopreserved - Ready for recovery |
| Cerebellar deficient folia (cdf) is a recessive mutation which maps to chromosome 6. Homozygotes display a constant side-to-side wobble in their gait that is apparent as early as 2 weeks of age. Additionally, they often hold their tails off the surface or arch them over their heads while moving. Smaller size is detectable in homozygotes by two weeks of age, at weaning they weigh approximately 25% less than littermate controls, and as adults they weigh, on average, 50% less. These mutants live a normal life span (one-and-a-half to two years on the C3H/HeJ background), but homozygous males rarely breed and homozygous females are poor mothers requiring transfer of litters to foster mothers. The cdf mutation causes a hypoplastic and dysmorphic cerebellum. On the C3H/HeJ background, homozygotes have only 7 cerebellar folia rather than the 10 present in wildtype, and the folia pattern is abnormal. Their vermis is one-third smaller than wildtype in rostro-caudal length ..... | ||
| 002333 | C3H/HeSnJ-gri/J | Cryopreserved - Ready for recovery |
| On an agouti background gri homozygotes resemble Tyrc-ch homozygotes. There is a graying of the coat due to a lighter than normal phaeomelanin band. There is no change in eye color. gri homozygotes are slightly smaller than their unaffected littermates. Homozygous females breed well, but homozygous males often do not breed. Testis biopsies failed to identify any sperm abnormalities. The gri mutation does not cause a clotting disorder. (Davisson et al., 2000.) | ||
| 001434 | C3HeB/FeJ x STX/Le-Mc1rE-so Gli3Xt-J Zeb1Tw/J | Cryopreserved - Ready for recovery |
| Mice heterozygous for the twirler mutation (Zeb1Tw) display head-shaking and circling behavior but are not deaf. There are morphological abnormalities of the inner ear which consist of irregularities in the outline of the semicircular canals, sometimes amounting to branching, and reduction or absence of otoliths. Moderate astrocytosis in the vestibular nuclei and cerebellar white matter has been reported. Homozygotes have cleft lip and palate or cleft palate only. They die within 24 hours after birth. Viability and fertility are normal except that adults tend to become obese and may then become sterile. Penetrance is incomplete. This strain is also carrying the sombre (Mc1rE-so) and extra toes-Jackson (Gli3St-J) mutations. Extra toes-J heterozygotes have varying numbers of extra digits on preaxial side of feet. Homozygotes die in utero with multiple abnormalities. Excessively large pharyngeal arches and an open neural tube a ..... For more information please see the full phenotype on the strain data sheet | ||
| 000099 | C3HeB/FeJ-Avy/J | Cryopreserved - Ready for recovery |
| Homozygotes (Avy/Avy) and heterozygotes (Avy/A and Avy/a) show considerable variation in appearance, ranging from clear yellow, to mottling with dark patches, to a completely agouti-like coat. The variation is strongly influenced by the agouti-locus genotype and strain genome of the dam. Homozygotes and heterozygotes tend to become obese, and the degree of obesity is correlated with the amount of yellow in the coat. Avy resembles APy in causing greater tumor susceptibility and lower graft vs. host reactivity and higher hepatic malic enzyme activity. Homozygotes have a reduced humoral response to tetanus toxoid and decreased rates of carbon clearance as well as impaired mononuclear phagocyte function. The greater tumor susceptibility as well as several altered immune responses occur in Avy/a mice of mottled phenotype but not in those of agout ..... For more information please see the full phenotype on the strain data sheet | ||
| 002588 | C3HeB/FeJ-Eya1bor/J | Cryopreserved - Ready for recovery |
| The human Branchio-Oto-Renal Syndrome is generally a dominant disorder with incomplete penetrance and variable expressivity resulting from null mutations in the EYA1 gene. The mouse Eya1bor allele is primarily a recessive hypomorphic mutation. Nevertheless, homozygous mice with this hypomorphic allele offer a good model for Branchio-Oto-Renal Syndrome. The phenotype of Eya1bor/Eya1bor mice parallels that of the human Branchio-Oto-Renal Syndrome and both are thought to result from reduced gene dosage. During mapping crosses using CAST/Ei and C3H/HeJ, it was found that genetic background impacts both the kidney and inner ear phenotypes, and modifier genes in humans also may impact the severity of Branchio-Oto-Renal-Syndrome. | ||
| 001533 | C3HeB/FeJ-Mc1rE-so Gli3Xt-J/J | Cryopreserved - Ready for recovery |
| Mice heterozygous for the extra toes-J spontaneous mutation (Gli3Xt-J) have varying numbers of extra digits on preaxial side of feet. Homozygous mutant mice die in utero with multiple abnormalities. Excessively large pharyngeal arches and an open neural tube are evident at E9. Homologous to Grieg's cephalopoly-syndactyly, a rare multi-system syndrome in humans. This strain is homozygous for the sombre mutation (Mc1rE-so). | ||
| 002546 | C3Ou.129S2-Rb1tm1Tyj/J | Cryopreserved - Ready for recovery |
| Mice homozygous for this targeted mutation die in utero, apparently from a failure to produce erythrocytes in the liver, demonstrating that the endogenous gene is essential for normal development. Heterozygous mice, which are analogous to human carrier individuals, do not develop retinal tumors, but do develop pituitary tumors by 8 months of age. In an attempt to offer alleles on well-characterized or multiple genetic backgrounds, alleles are frequently moved to a genetic background different from that on which an allele was first characterized. This is the case for this strain. It should be noted that the phenotype could vary from that originally described. We will modify the strain description if necessary as published results become available. | ||
| 000847 | C3Sn.B6-KitW-39J/J | Cryopreserved - Ready for recovery |
| 001547 | C3Sn.Cg-Cm/J | Cryopreserved - Ready for recovery |
| Mice heterozygous for the coloboma spontaneous mutation (Cm) show abnormal posture, head shaking or bobbing, and circling. Heterozygous mutant mice are extremely hyperactive, locomotor activity being three times that of normal mice. | ||
| 001380 | C3Sn.Cg-KitlSl-con/J | Cryopreserved - Ready for recovery |
| Both homozygous and heterozygous mice with the contrasted induced mutation (KitlSl-con) are viable. Male homozygous mutant mice are fertile but females are usually sterile. Mice heterozygous for the contrasted mutation are recognizable soon after birth by dark pigmentation of the genital papilla with the adult coat being slightly lighter than normal. Homozygous mutant mice also have dark genitalia and a markedly diluted coat and mild macrocytic anemia. | ||
| 003100 | C3Sn;129-Del(10AI646023-Ggt5)1Bayer/J | Cryopreserved - Ready for recovery |
| The dwarf-Bayer mutation (dwgBayer) occurred spontaneously in an embryonic stem cell line during genetic targeting of the insulin receptor gene. The phenotype of the mice resemble drawf grey (dwg, Stock No. 001743) and subsequent characterization determined that the two mutations are allelic. Homozygous mutant mice are grey and smaller in size than wildtype littermates. | ||
| 000233 | C3Wf.Cg-Hmga2pg/BmJ | Cryopreserved - Ready for recovery |
| Mice homozygous for the pygmy mutation (Hmga2pg) are recognizably smaller at birth, growth rate is slow, and adults weigh about one-third as much as normal mice. They are healthy and active; some are sterile, but fertility may be almost normal on genetic backgrounds favoring large size. Pituitary, thyroid, and adrenals appear normal; Normal somatomedin activity; Normal serum levels of GH and PRL, but below normal concentrations in the pituitary; Unresponsive to administration of growth hormone. | ||
| 002566 | C57BL/6-Atp7aMo-br/J | Cryopreserved - Ready for recovery |
| Heterozygous females carrying the brindled allele (Atp7aMo-br) are very similar to mottled heterozygous females (Atp7aMo/+) in appearance but have normal viability. They have curly vibrissae, but the coat is not noticeably waved. Hemizygous males are almost devoid of pigment except in the eyes and ears. The vibrissae are strongly curled, and the coat is wavy. Males usually die by two weeks of age, but a few have lived and been fertile. They have a behavioral abnormality consisting of a slight tremor, uncoordinated gait, and clasping of the hindfeet when held up by the tail. Histological examination of the brain of brindled males shows widespread neuronal degeneration in the cerebral cortex and thalamic nuclei and scattered degeneration in the cerebellum. Heterozygous females have been shown to have neurochemical abnormalities as well. In contrast to mice bearing other Atp7a alleles, brindled mice have no aortic lesions and no defect in crossli ..... For more information please see the full phenotype on the strain data sheet | ||
| 002197 | C57BL/6-Col1a1Mov13/J | Cryopreserved - Ready for recovery |
| The integration of the M-MuLV genome near the 5' end of the Col1a1 gene blocks transcription of the gene from this locus. Mice homozygous for this mutation suffer from arrested development at day 12 and die at about embryonic day 13-14. Heterozygotes in our colony rarely survived to 8 months of age. Many died at less than 3 months of age. | ||
| 008591 | C57BL/6-Cxcr7tm1Litt/J | Cryopreserved - Ready for recovery |
| 010683 | C57BL/6-Enamtm1.1Jcch/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the Enam-null/lacZ knock-in allele (Enam- or EnamlacZ) are viable and fertile, with a nuclear-localized β-galactosidase (NLS lacZ) translation initiation site and coding region replacing the Enam translation initiation site and 5'-coding region. This abolishes endogenous gene function; no enamelin protein is observed in homozygous mice. Under control of the upstream promoter/enhancer elements, lacZ expression is directed to ameloblasts (the enamel-forming cells in developing teeth) during the secretory stage of dental enamel formation. Enam-deficiency results in improper tooth enamel matrix organization/mineralization, altered gross tooth morphology, and premature tooth structural loss. Homozygous mice exhibit no true enamel covering the dentin and a high degree of occlusal wearing (even when fed moistened chow). Heterozygous mice have a milder phenotype primarily evident in the mandibular incisors. These EnamlacZ ..... For more information please see the full phenotype on the strain data sheet | ||
| 008517 | C57BL/6-Gt(ROSA)26Sortm3(CAG-MIR17-92,-EGFP)Rsky/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the "miR-17-92 transgene" conditional allele are viable and fertile, with a loxP-flanked Neo-STOP cassette preventing transcription of the downstream bicistronic sequences (human miR-17-92 cluster (encoding the precursor of seven miRNA molecules; miR-17-5p, miR-17-3p, miR-18a, miR-19a, miR-20a, miR-19b and miR-92) and EGFP). When bred to mice that express Cre recombinase, the resulting offspring will have the STOP cassette deleted in the cre-expressing tissue(s); resulting in expression of the human miR-17-92 cluster. Because the synthetic CAG promoter driven miR-17-92 transgene was targeted for insertion into the Gt(ROSA)26Sor locus, expression of the transgene is determined by which tissue(s) express Cre recombinase. EGFP fluorescence, however, is not reported following exposure to Cre recombinase (presumably due to RNaseIII excision of the stem-loop structures encoding individual miRNA destabilizing the EGFP portion of the primary transcript ..... For more information please see the full phenotype on the strain data sheet | ||
| 007707 | C57BL/6-Itgb7tm1Mshi/J | Cryopreserved - Ready for recovery |
| Mice homozygous for this β7 (D146A) targeted mutation are viable and fertile. DNA sequencing confirms an aspartate (D) to alanine (A) substitution at position 146 of the targeted β7 integrin gene. As such, homozygotes have a mutant ADMIDAS (adjacent to metal ion-dependent adhesion site) cation binding/exchange site in the β7 integrin head (A-domain). The resulting imbalance between the non-adhesive and adhesive states of leukocyte integrins skews toward a persistently adhesive state. Homozygous mutants exhibit impaired leukocyte migration, perturbed lymphocyte trafficking in the gut, and reduced T- and B-cell numbers in small/large bowel and gut-associated lymphoid tissues (less T-cells in Peyer's patches (PP), fewer intraepithelial lymphocyte (IEL) and lamina propria lymphocyte (LPL) compartments in the small intestine; and less B-cells in PP and the large intestine). In addition, CD4+CD45RBhigh T cells isolated fro ..... For more information please see the full phenotype on the strain data sheet | ||
| 010684 | C57BL/6-Klk4tm1.1Jpsi/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the Klk4-null/lacZ knock-in allele (Klk4- or Klk4lacZ) are viable and fertile, with a nuclear-localized β-galactosidase (NLS lacZ) translation initiation site and coding region replacing the Klk4 translation initiation site and coding region. This abolishes endogenous gene function. Under control of the upstream promoter/enhancer elements, lacZ expression is directed to ameloblasts (the enamel-forming cells in developing teeth) during the transition and maturation stages of dental enamel formation. Klk4-deficiency results in improper dental enamel matrix biomineralization, altered gross tooth morphology, and premature tooth decay. Homozygous mice exhibit malformed enamel that is rapidly abraded after weaning (even when fed moistened chow) and a tendency for all teeth to fracture at points of contact. Heterozygous mice appear indistinguishable from wildtype mice. These Klk4lacZ mice may be useful for studyi ..... For more information please see the full phenotype on the strain data sheet | ||
| 009062 | C57BL/6-Magel2tm1Stw/J | Cryopreserved - Ready for recovery |
| The mouse locus 7qB4/B5 (syntenic with the Prader-Willi region at chromosome position 15q11-q13 in humans) encompasses the cluster of paternally-expressed imprinted genes Magel2, Ndn, Mkrn3, and Peg12. As maternal imprinting silences the Magel2 allele, only the paternally inherited Magel2 allele is expressed. The Magel2-lacZ knock-in allele abolishes endogenous gene function and expresses a β-galactosidase fusion protein. Under control of the upstream promoter/enhancer elements, lacZ expression is directed to the same tissues as the wildtype gene. For example, β-galactosidase expression during embryogenesis is detected in central nervous system (neural tube, forebrain, midbrain and embryonic hypothalamus), peripheral nervous system (dorsal root ganglia and peripheral neurons innervating limb and trunk muscles), and some non-neuronal tissues (genital tubercle, midgut region and placenta). Adult β-galactosidase ..... For more information please see the full phenotype on the strain data sheet | ||
| 013632 | C57BL/6-b2b019Clo/J | Cryopreserved - Ready for recovery |
| This undefined b2b019Clo mutation was identified in an ENU screen for recessive cardiovascular development phenotypes in Dr. Cecilia Lo's laboratory, NHLBI Cardiovascular Development Consortium (CvDC). It was recovered from G1 sperm and associated with the phenotype described here. Because G1 sperm were cryopreserved, additional incidental mutations are also segregating in this strain.
Homozygotes demonstrate cardiovascular defects that involve a double outlet right ventricle (DORV) and ventricular septal defect (VSD). Cleft palate and micrognathia (abnormally small lower jaw) are also seen. | ||
| 008842 | C57BL/6-Tg(Lck-VIPR2)1Ejg/J | Cryopreserved - Ready for recovery |
| These "VPAC2 R TG mice" (or VPAC2R Tg mice) are viable and fertile, harboring the LCK-huVPAC2 transgene. This transgene has the murine lymphocyte protein tyrosine kinase (Lck) proximal promoter directing persistently high expression of huVPAC2R (human vasoactive intestinal peptide G-protein-coupled receptor 2 [VIPR2 or VIPR2]) primarily to CD4+ T cells (T-helper/inducer cells). As such, expression of huVPAC2R mRNA and protein is highest in spleen and thymus, but also observed in other tissues at much lower levels. The constitutive high huVPAC2R expression on CD4+ T cells is characteristic of levels usually observed only after maximal TCR stimulation. Transgenic mice have elevated blood IgE, IgG1, and eosinophil levels. The effector T cell phenotype is altered; with Th2-bias cytokine profiles (increased IL-4, IL-5, c-maf and junB) associated with altered hypersensitivity states (increased immedi ..... For more information please see the full phenotype on the strain data sheet | ||
| 007265 | C57BL/6-Tg(Sry-EGFP)92Ei Chr YAKR/J/EiJ | Cryopreserved - Ready for recovery |
| 007264 | C57BL/6-Tg(Sry-EGFP)92Ei Tg(Sry)4Ei Chr YPOS/EiJ | Cryopreserved - Ready for recovery |
| 010505 | C57BL/6-Tg(Vav1-NUP98/HOXD13)G2Apla/J | Cryopreserved - Ready for recovery |
| These transgenic mice express the fusion gene consisting of the amino-terminal region of the human nucleoporin 98kDa (NUP98) fused to the homeodomain of the human homeobox D13 (HOXD13) under the control of the mouse vav1 oncogene (Vav1) regulatory elements. The transgene is expressed specifically in hematopoietic tissues and is detected in thymus, spleen, and bone marrow and not in brain, liver, and kidney by Northern blot analysis of total RNA. The fusion gene product (protein) is detected in thymocytes from transgenic mice by Western blot analysis. Hemizygous transgenic mice develop myelodysplastic syndromes (hematopoietic stem cell disorder) with peripheral blood cytopenia and dysplasia and normocellular to hypercellular bone marrow. By 7 months of age, hemizygotes exhibit leukopenia and anemia. By 14 months of age a subset of hemizygotes succumbs to malignant leukemia or severe anemia and leucopenia. This mutant mouse strain may be useful in studies of myelod ..... For more information please see the full phenotype on the strain data sheet | ||
| 005706 | C57BL/6-Tg(tetO-CDK5R1/GFP)337Lht/J | Cryopreserved - Ready for recovery |
| Hemizygous transgenic mice are viable, fertile, normal in size and do not display any behavioral abnormalities. Mice homozygous for this transgene may not be viable. When these transgenic mice are bred with mice expressing the tetracycline-controlled transactivator protein (tTA) under the regulation of a tissue-specific promoter, expression of the CDK5R1/GFP fusion protein in the appropriate tissue of the bitransgenic offspring can be regulated by doxycycline administration. These mice may be useful in studies of Alzheimer's disease and other neurodegenerative tauopathies, amyotrophic lateral sclerosis (ALS), Niemann Pick Type C (NPC) disease, and Parkinson's disease.
Note: this transgenic strain was designed to breed with Tg(Camk2a-tTA) transgenic mice, (Stock No. 003010), a transgenic strain that expresses tTA in forebrain neurons. The resulting bitransgenic offspring exhibit the hallmark phenotype of Alzheimer's disease; ..... | ||
| 000338 | C57BL/6J Aw-J-EdaTa-6J/J | Cryopreserved - Ready for recovery |
| 012596 | C57BL/6J x STOCK Hdlk/GrsrJ | Cryopreserved - Ready for recovery |
| Heterozygotes have one fused digit on the hind feet, absent terminal phalanx of the first or first and second digit of the hind feet, and normal fore feet. Homozygotes lack the most anterior digit of both fore feet and hind feet, and are sterile | ||
| 000569 | C57BL/6J-Aw-J-EdaTa +/+ ArTfm/J | Cryopreserved - Ready for recovery |
| Testicular feminization (ArTfm) is a dominant spontaneous mutation on the X chromosome. Hemizygous male mice are outwardly female in appearance except that the vagina does not open until 3 months of age if at all. Male reproductive development is abnormal leading to very small testes, and the absense of vas deferens, the epididymis, and male accessory glands. Spermatogonia and Sertoli cells are present in the testes, but spermatogenesis does not proceed past meiotic prophase. Leydig cells, which normally produce androgen in males, fail to develop normally. This strain is also segregating for the tabby mutation (EdaTa) that affects both the coat color and hair pattern growth. The tabby mutation is maintained in repulsion with the testicular feminization mutation and is used as a coat color marker to assist in identifying resulting genotypes obtained from matings. | ||
| 005921 | C57BL/6J-Aqp2F204V/J | Cryopreserved - Ready for recovery |
| Mice homozygous for this mutation are viable with normal body size and lifespan. Homozygotes are fertile, but females usually die during labor. The predicted valine for phenylalanine substitution at amino acid 204 of the mutant protein (F204V) leads to an enrichment in kidney cells of a normally short-lived, intermediately glycosylated 31 kDa isoform and to a reduction in the mature, glycosylated protein level. The mutant AQP2F204V protein is mis-localized in kidney collecting duct cells, and fails to translocate to the apical cell surface in response to desmopressin. Homozygous mice exhibit excessive water consumption and urination, normal plasma glucose levels, and no glucose in the urine. Mutant mice are unable to concentrate urine and exhibit severe hydronephrosis. The presence of some mature, glycosylated protein and a defective, but not completely absent, desmopressin response in homozygous mutant mice likely permits their survival. Heterozygous mice are viable and fer ..... For more information please see the full phenotype on the strain data sheet | ||
| 000530 | C57BL/6J-Aqp2cph/J | Cryopreserved - Ready for recovery |
| 005598 | C57BL/6J-Arsbm1J/GrsrJ | Cryopreserved - Ready for recovery |
| Mice homozygous for the Arsbm1J mutation have a combination of delayed muscle and nerve degeneration along with a skeletal phenotype consisting of a shortened snout, wide-set eyes and shortened limbs that becomes more noticeable with age. Mutants can be poor breeders yielding small litters. Of 10 litters the average number of pups was 3.9. | ||
| 013633 | C57BL/6J-Bicc1b2b222Clo/J | Cryopreserved - Ready for recovery |
| This c.10048T->C Bicc1 (bicaudal C homolog 1 (Drosophila)) recessive mutation was identified in an ENU screen for recessive cardiovascular development phenotypes in Dr. Cecilia Lo's laboratory, NHLBI Cardiovascular Development Consortium (CvDC). It was recovered from G1 sperm and associated with the phenotype described described here. Because G1 sperm were cryopreserved, additional ENU mutations are also segregating in this strain.
Homozygotes demonstrate laterality defects, including situs inversus totalis, and heterotaxy. Congenital heart disease (CHD) is marked by double outlet right ventricle (DORV)/transposition of the great arteries (TGA), atrioventricular septal defects (AVSD), and an interrupted aortic arch (IAA). Polycystic kidney disease, as well as pancreatic, choleductal, and gonadal cysts are also found. | ||
| 013612 | C57BL/6J-Dnahc5b2b002Clo/J | Cryopreserved - Ready for recovery |
| This c.13169T>C Dnahc5 (dynein, axonemal, heavy chain 5) point mutation was identified in an ENU screen for recessive cardiovascular development phenotypes in Dr. Cecilia Lo's laboratory, NHLBI Cardiovascular Development Consortium (CvDC). It was recovered from G1 sperm and associated with the phenotype described described here. Because G1 sperm were cryopreserved, additional incidental mutations are also segregating in this strain.
Homozygotes demonstrate laterality defects, including situs inversus totalis, and heterotaxy. Congenital heart disease (CHD) is marked by double outlet right ventricle (DORV), atrioventricular septal defects (AVSD), superior-inferior ventricles, and likely other structural heart defects. | ||
| 013619 | C57BL/6J-Dnahc5b2b016Clo/J | Cryopreserved - Ready for recovery |
| This c.10048T->C Dnahc5 (dynein, axonemal, heavy chain 5) recessive mutation was identified in a recessive ENU screen for cardiovascular development phenotypes in Dr. Cecilia Lo's laboratory, NHLBI Cardiovascular Development Consortium (CvDC). It was recovered from G1 sperm and associated with the phenotype described here. Because G1 sperm were cryopreserved, additional incidental mutations are also segregating in this strain.
Homozygotes demonstrate laterality defects including situs inversus and heterotaxy. Congenital heart disease (CHD) is marked by double outlet right ventricle (DORV)/aortic override (AO), atrioventricular septal defects (AVSD) and likely other structural heart defects. Slow ciliary motility in the tracheal airway with some areas of immotility, and duplex/duplicated kidneys are also seen. | ||
| 013634 | C57BL/6J-Dnaic1b2b284Clo/J | Cryopreserved - Ready for recovery |
| This c.240+1G>A Dnaic (dynein, axonemal, intermediate chain 1) recessive mutation was identified in an ENU screen for recessive cardiovascular development phenotypes in Dr. Cecilia Lo's laboratory, NHLBI Cardiovascular Development Consortium (CvDC). It was recovered from G1 sperm and associated with the phenotype described described here. Because G1 sperm were cryopreserved, additional incidental ENU mutations are also segregating in this strain.
Homozygotes demonstrate laterality defects including situs inversus totalis and heterotaxy. Congenital heart disease (CHD) is marked by atrioventricular septal defects (AVSD) and transposition of the great arteries (TGA). Hypoplastic spleen and asplenia are also observed. The cilia of the trachea are immotile, but a few show a twitching motion. | ||
| 005322 | C57BL/6J-Gusbmps-3J/J | Cryopreserved - Ready for recovery |
| 000166 | C57BL/6J-KitW-17J/J | Cryopreserved - Ready for recovery |
| 000167 | C57BL/6J-KitW-18J/J | Cryopreserved - Ready for recovery |
| 000169 | C57BL/6J-KitW-20J/J | Cryopreserved - Ready for recovery |
| 000117 | C57BL/6J-KitW-34J/J | Cryopreserved - Ready for recovery |
| 000128 | C57BL/6J-KitW-35J/J | Cryopreserved - Ready for recovery |
| 000134 | C57BL/6J-KitW-37J/J | Cryopreserved - Ready for recovery |
| 000062 | C57BL/6J-KitW-39J/J | Cryopreserved - Ready for recovery |
| 000121 | C57BL/6J-KitW-40J/J | Cryopreserved - Ready for recovery |
| 000119 | C57BL/6J-KitW-41J/J | Cryopreserved - Ready for recovery |
| 000127 | C57BL/6J-KitW-42J/J | Cryopreserved - Ready for recovery |
| 000129 | C57BL/6J-KitW-43J/J | Cryopreserved - Ready for recovery |
| 000990 | C57BL/6J-KitW-55J/J | Cryopreserved - Ready for recovery |
| 001179 | C57BL/6J-KitW-62J/J | Cryopreserved - Ready for recovery |
| 003252 | C57BL/6J-KitlSl-20J/J | Cryopreserved - Ready for recovery |
| KitlSl-20J is a dominant allele. On the C57BL/6J background heterozygotes have a light black coat color with lighter tail and feet and a steel colored belly with a belly spot. Heterozygotes of both sexes are viable and fertile. | ||
| 005094 | C57BL/6J-Lama1nmf223/J | Cryopreserved - Ready for recovery |
| Homozygotes have retinal vasculopathy, characterized by vitreal fibroplasias and vessel tortuosity. There is thinning of the peripheral inner nuclear layer and variable cell loss in the retinal ganglion cell layer, along with reduced dark and light adapted electroretinogram amplitudes. There is abnormal migration of retinal astrocytes into the vitreous and the persistence of hyaloid vaculature. While targeted disruption of the alpha 1 laminin gene causes a more severe phenotype, including the absence of the inner limiting membrane, this hypomorph nevertheless displays ectopic cells and blood vessels within the vitreous indicative of reduced integrity of the inner limiting membrane. | ||
| 000529 | C57BL/6J-Lbric-J/J | Cryopreserved - Ready for recovery |
| Lbric-J/Lbric-J homozygotes can be identified at 2 weeks of age due to sparse fur and at 3-4 weeks of age scales develop on the tail and, to a lesser degree, on the trunk. These mutants are smaller than their wild type siblings. The mutants develop mild epidermal hyperplasia with orthokeratotic hyperkeratosis and dilation of the piliary canals. Homozygotes have an increased incidence of syndactyly and hydrocephaly, and a high prenatal mortality rate. Aberrant morphology of nuclear heterochromatin occurs in lymphocytes, neutrophils, eosinophils, intestinal epithelium, and cerebellar granule cells. Electron microscopy reveals clumps of heterochromatin at the periphery of the nucleus within splenic lymphocytes. These mice are a model for Pelger-Huet anomaly, which is associated with mutations in LBR, although the skin pathology is specific to the mouse mutation. (Eicher, 1976; Hoffmann et al., 2002; Shultz et al., 2003.) | ||
| 002854 | C57BL/6J-Nek1kat-2J/J | Cryopreserved - Ready for recovery |
| The phenotype associated with the Nek1kat-2J allele is more severe than that of the Nek1kat allele. Mice homozygous for Nek1kat-2J all die before one year of age, a third of those that survive weaning die suddenly before 100 days of age, and the reported median survival age is 211 days. Mice homozygous for Nek1kat also have a shortened life expectancy with high pre-weaning mortality and a reported median survival of 286 days, but 22% were found to survive beyond 1 year. Both mutants are runted and have blunted noses with olfactory bulbs that are approximately half the normal size and lack most of the glomerular and external granular layers. In the brain there is dilation of the lateral and third ventricles, cerebral aqueduct and fourth ventricle along with large, fluid-filled cysts in the choroid plexus. Hydrocephalus occurs. Normochromic normocytic anemia is found and is more pronounced in Nek1Kat-2J ..... For more information please see the full phenotype on the strain data sheet | ||
| 003779 | C57BL/6J-Nek1kat-3J/J | Cryopreserved - Ready for recovery |
| 002561 | C57BL/6J-Nek8jck/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the Nek8jck mutation develop polycystic kidney disease. Histology revealed that the kidneys of some 3 day old pups from heterozygous parents had small isolated cysts lined by cuboidal epithelial cells, and 15 day old pups had cysts lined by flattened epithelia. Disease is progressive but not evident by kidney palpation until at least 4 to 5 weeks of age. Homozygotes generally remain active until shortly before death and usually die between 20 and 25 weeks of age. Homozygous females are fertile but do not consistently care for their litters; homozygous males are fertile but decreased fertility is reported after 15 weeks of age. No histologic abnormalities were found in the liver, spleen, or pancreas. (Atala et al., 1993) | ||
| 000565 | C57BL/6J-Pax3Sp-d/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the splotch-delayed spontaneous mutation (Pax3Sp-d) have a phenotype that is generally less severe than mice homozygous for the splotch mutation (Pax3Sp, Stock No. 002469). Splotch-delayed homozygous embryos survive to birth, compared to splotch mutant embryos that die at E13 due to neural tube defects. Homozygous splotch-delayed mutant embryos display caudal rachischisis only. Heterozygous splotch-delayed have a white belly spot. Delayed splotch is a point mutation within the paired domain of Pax3. This impairs DNA binding of this domain and also, suprisingly, of the homeodomain, not directly affected in the mutant gene. | ||
| 000118 | C57BL/6J-Ph/J | Cryopreserved - Ready for recovery |
| 006249 | C57BL/6J-Plxna2nmf454/J | Cryopreserved - Ready for recovery |
| Due to aberrant migration of granule cells during development, mice homozygous for the nmf454 mutation have a hypercellular molecular layer of the cerebellum with many ectopic granule cells in the molecular layer. | ||
| 005744 | C57BL/6J-Relnrl-6J/J | Cryopreserved - Ready for recovery |
| These mutants exhibit body tremor, intense hind limb spasms, and are unable to continuously work; mutants are unable to remain on their feet, fall over and struggle to regain balance. The on-set of the phenotype can be observed at 3.7 weeks of age (+/- 1.1 weeks; n=7). Since brain histology results of these mutants were similar to those observed in reeler mutants (see below), a complementation analysis with Reln was performed; the results of a heterozygote by heterozygote mating of nmf413 and Relnrl(Jax#0235), i.e. 3 mutants in a total of 7 progeny, confirmed that nmf413 indeed represents an allele of Reln. Standard pathology work-up performed on two mutants (17 or 44 days of age) revealed an underdeveloped brain, characterized by disorganized cell layers in the cerebellum, hippocampus and cerebral cortex. The colony has to be maintained through ovarian transplants.
View strain phenotype and additional information on the For more information please see the full phenotype on the strain data sheet | ||
| 004105 | C57BL/6J-Scn8a5J/J | Cryopreserved - Ready for recovery |
| Mice develop bilateral hind limb paralysis between 14-22 days (average onset 16.9 +/- 2.1 days) followed by death between 3-4 weeks of age. Mutants of either gender have been produced.
A complementation test between NMF5 and C3HeB/FeJ-Scn8med-J (JR#3798) revealed that the motor phenotype of NMF5 represents a new allele of Scn8a, which encodes a type VIII voltage-gated sodium channel alpha polypeptide. Affected mice were found in each of 3 litters from heterozygote matings (NMF5 x Scn8med-J). Of the 25 mice born, 28% were affected (4/8, 1/9, 2/8, litters 1-3, respectively). Additional complementation tests showed NMF5 to be an allele of NMF58, and recent sequencing data confirmed the allelic relationship of NMF58 and Scn8a, and therefore of NMF5 and Scn8a (Mammalian Genome, 15,4, 2004).
However, we note that the retinal phenotype detected in NMF5 has not been reported for any Scn8a allele. To determine whe ..... | ||
| 000219 | C57BL/6J-Slc30a4lm/J | Cryopreserved - Ready for recovery |
| Female mice homozygous for the lethal milk mutation (Slc30a4lm, formerly Znt4lm) produce milk that is lethal to mice nursed during the first week of life and detrimental to mice nursed thereafter. The lethal and detrimental effects are due to a deficiency of zinc in the milk. If foster nursed on normal dams, lethal milk homozygotes survive and become reproductively mature. Zinc supplementation of the drinking water of dams enables them to nurse their young successfully. All homozygous mutant mice lack utricular otoliths and this defect is not prevented by zinc supplementation. They have varying loss of saccular otoliths and show mild behavioral abnormalities related to the otolith defect. Homozygotes over eight months of age show progressive hair loss, dermatitis, and skin lesions, symptoms of zinc deficiency. | ||
| 005135 | C57BL/6J-Sls/GrsrJ | Cryopreserved - Ready for recovery |
| 004587 | C57BL/6J-Szt1/FrkJ | Cryopreserved - Ready for recovery |
| View strain phenotype and additional information on the Neuroscience Mutagenesis Facility web page for Szt1 entry. | ||
| 000545 | C57BL/6J-T2J/J | Cryopreserved - Ready for recovery |
| 001199 | C57BL/6J-T5J/J | Cryopreserved - Ready for recovery |
| 013617 | C57BL/6J-b2b288Clo/J | Cryopreserved - Ready for recovery |
| This undefined b2b288Clo mutation was identified in an ENU screen for recessive cardiovascular development phenotypes in Dr. Cecilia Lo's laboratory, NHLBI Cardiovascular Development Consortium (CvDC). It was recovered from G1 sperm and associated with the phenotype described here. Because G1 sperm were cryopreserved, additional incidental mutations are also segregating in this strain.
Homozygotes demonstrate cardiovascular defects that involve a double outlet right ventricle (DORV), transposition of great arteries, dextrocardia, and complete atroventricular septal defect (AVSD). Heterotaxia is also seen. | ||
| 013618 | C57BL/6J-b2b386Clo/J | Cryopreserved - Ready for recovery |
| This undefined b2b386Clo mutation was identified in an ENU screen for recessive cardiovascular development phenotypes in Dr. Cecilia Lo's laboratory, NHLBI Cardiovascular Development Consortium (CvDC). It was recovered from G1 sperm and associated with the phenotype described here. Because G1 sperm were cryopreserved, additional incidental mutations are also segregating in this strain.
Homozygotes demonstrate cardiovascular defects that involve a double outlet right ventricle (DORV), common atrioventricular (AV) valve, duplicated inferior vena cava (IVC), interrupted/hypoplastic aortic arch, ventricular septal defect (VSD), and interrupted aortic arch (IAA). Left lung isomerism, left liver isomerism, and cleft palate are also seen. | ||
| 004765 | C57BL/6J-nmf148/J | Cryopreserved - Ready for recovery |
| The mutants are small and show an intense body tremor with unsteady, 'seal-like' gait; their hind limbs appear weak, i.e. appear to carry the body weight with difficulty only, and sometimes one or the other hind limb lags behind. The phenotype can be observed at 3.5 weeks of age (+/-0.63; n=118). Mice of either gender are affected.
Standard pathology work-up on two mutants (27 or 28 days of age) revealed a hypoplastic spleen with atrophy of both lymphoid and hemaopoietic areas, and atrophy of the thymus in both mice. Hypoplastic bone marrow was noted in one, and fatty changes in the liver were noted in the other animal. View strain phenotype and additional information on the Neuroscience Mutagenesis Facility web page for nmf148 entry. | ||
| 004831 | C57BL/6J-nmf219/J | Cryopreserved - Ready for recovery |
| The mutants exhibit circling and head tossing behavior by weaning age (average date of onset 3.7 weeks of age +/- 0.66; n=20), and two animals tested for Auditory brainstem response at 6 weeks of age were found to be deaf. Standard pathology work-up on four mutants (29, 36 or 111 days of age) revealed abnormal development of the ears of three mutants. Serial sections of the ears of a 29 and a 111 day old mutant showed a lack of organization, no properly formed hair cells were observed in the older mouse; the semicircular canals also appeared very small. However, whole ear histology performed on an additional mutant (29 days of age) revealed no abnormalities. In the 36 day old mutant, macrophages were present in spinal and trigeminal nerve roots, as well as in the white matter of the CNS. No other abnormalities were observed. Male or female mutants have been produced and a colony can be maintained through heterozygote or mutant breeding (though heterozygotes breed better than mutants).
..... For more information please see the full phenotype on the strain data sheet | ||
| 003927 | C57BL/6J-Tg(Sry-EGFP)92Ei/EiJ | Cryopreserved - Ready for recovery |
| Tg(Sry-EGFP)92Ei has been shown to drive expression of GFP in pre-Sertoli and pre-granulosa cells of the genital ridge, with expression stronger in homozygotes than hemizygotes. Gonadal expression is not found in germ cells or vascular endothelial cells, but is restricted to a subset of somatic cells. Expression in the genital ridge begins in the center and moves out to the poles, with a bias toward the caudal pole. GFP expression is also found in tyrosine hydroxylase-expressing neurons of the substantia nigra of the midbrain and the medial mammillary bodies of the hypothalamus in males, but not females, with lower levels of expression observed sparsely throughout the cortex. Strongest expression in the male brain is in the pars compacta and, at the cellular level, both cytoplasmic and nuclear localization are found. | ||
| 001961 | C57BL/6JEi x STOCK T T(16;17)43H/+ T(16;17)43H/Ei | Cryopreserved - Ready for recovery |
| 002602 | C57BL/6JEi-Chr YA/HeJ/EiJ | Cryopreserved - Ready for recovery |
| 007250 | C57BL/6JEi-Chr YAKR/J/Ei | Cryopreserved - Ready for recovery |
| This consomic is valuable in the study of sex determination. The TOrl /+ XYAKR/J offspring, from the cross of B6.Cg-TOrl /+ females with C57BL/6JEi-Chr YAKR/J/EiJ males, are sex reversed, with ovarian tissue development. | ||
| 001543 | C57BL/6JEi-Chr YCB/EiJ | Cryopreserved - Ready for recovery |
| This YCB Chromosome on the C57BL/6J background results in Y-linked sex reversal wherein XYCB are frequently hermaphrodites. These hermaphrodites often do breed. | ||
| 002604 | C57BL/6JEi-Chr YRF/J/EiJ | Cryopreserved - Ready for recovery |
| This consomic is valuable in the study of sex determination. The TOrl /+ XYRF offspring, from the cross of B6.Cg-TOrl /+ females with C57BL/6JEi-Chr YRF/J males, are sex reversed, having ovarian tissue development. | ||
| 001574 | C57BL/6JEi-Chr YWSB/Ei/EiJ | Cryopreserved - Ready for recovery |
| This consomic is valuable in the study of sex determination. The TOrl /+ XYWSB offspring, from the cross of B6.Cg-TOrl /+ females with C57BL/6JEi-Chr YWSB/EiJ males, are sex reversed, with ovarian tissue development. | ||
| 002063 | C57BL/6JEi-Tg(Sry)1Ei Chr YAKR/J/EiJ | Cryopreserved - Ready for recovery |
| In this strain, XX mice that carry the Tg(Sry)1Ei transgene are sex-reversed males. XYAKR/J mice heterozygous for TOrl on a C57BL/6J background develop as sex reversed females, but in the presence of the Tg(Sry)1Ei transgene these XY mice develop as normal males with testes. | ||
| 002708 | C57BL/6JEi-Tg(Sry)2Ei Chr YAKR/J/EiJ | Cryopreserved - Ready for recovery |
| In this strain, XX mice that carry the Tg(Sry)2Ei transgene are sex-reversed males. | ||
| 005420 | C;129S7 Gt(ROSA)26Sor-Bmp5cfe-se7J/J | Cryopreserved - Ready for recovery |
| Homozygotes have small, round ear pinnae with ridges along the perimeter and both ears are affected. This mutation is 100% penetrant. Unlike short ear mutations of this gene, skeletal abnormalities were not detected by X-ray for this mutant. Both males and females are fertile. | ||
| 001490 | C;AK-Gja8Lop10/J | Cryopreserved - Ready for recovery |
| The lens opacity 10 mutation in Gja8 is semidominant. Homozygotes are microphthalmic with foamy cataract of the entire lens apparent when the eyes open at 12 days of age and increasing in opaqueness with age. Bladder cells are found adjacent to the anterior and posterior subcapsular regions of the lens before birth, the lens nucleus begins to liquefy by 4 days of age and ruptures posteriorly, then the lens capsule thickens. Gja8Lop10 Heterozygotes are not microphthalmic and the phenotype associated with the mutation varies according to the genetic background. A nuclear haze or snowflake nuclear opacity is found in F1 heterozygotes of some backgrounds while a more severe dense nuclear opacity is evident by 4 weeks of age in F1 heterozygotes of other backgrounds including AKR/J and BALB/cJ. Mice homozygous for the Gja8tm1Paul targeted mutation, a recessive mutation in which the entire coding region is removed, do not display posterior lens r ..... For more information please see the full phenotype on the strain data sheet | ||
| 003913 | C;STOCK Npr2cn/J | Cryopreserved - Ready for recovery |
| 009645 | CB6-Isl1tm1Tmj/J | Cryopreserved - Ready for recovery |
| Homozygous embryos are arrested in their development soon after embryonic day 9.5 (E9.5) but exhibit an overtly normal organization of neural, mesodermal, and endodermal tissues. Histological analysis of embryos reveals abnormalities in the organization of the vascular endothelium and its surrounding mesenchyme, notably a disruption in the formation of the dorsal aorta. An impairment in vascular development is therefore a possible cause of the embryonic lethality in homozygous mutants. Motor neurons are not generated without ISL1 protein, although many other aspects of cell differentiation in the neural tube occur normally. A population of interneurons that express engrailed 1 (EN1), however, also fails to differentiate in these mutant embryos. ISL1 is required for the generation of motor neurons and motor neuron generation is required for the subsequent differentiation of certain interneurons.
Homozygote embryos analyzed at E9.5 express a modified transcript in mesodermal c ..... | ||
| 000813 | CBA/J-Atp7aMo-pew/J | Cryopreserved - Ready for recovery |
| The Atp7 genes encode Cu2+ ATPases. Atp7a is the mouse ortholog of the human ATP7A gene, which is mutated in children with Menke's syndrome. The range of defects in both Menke's syndrome and in mice having mutations of Atp7a--the mottled series of mutants--are due to deficiencies in a number of copper-requiring enzymes, in turn attributed to an intracellular copper transport defect. Thus, it is likely that the Atp7a gene product functions as a copper transport protein. (For brief review and references, see Levinson et al., 1994.) Atp7aMo-pew, the mottled-pewter mutation, has the mildest effect of the known mutations at this locus. The sole phenotype noted in hemizygous males and homozygous females is their pale, silvery gray coat color. The coats of affected mice of both sexes are initially agouti; males become pewter by about 4 weeks and females at 5-6 weeks of age. Heterozygous females have normal, agouti coats throug ..... | ||
| 003398 | CBA/J-dal/GrsrJ | Cryopreserved - Ready for recovery |
| Dark-like dal is a recessive mutation causing a darkened coat color, smaller size, gonad abnormalities, and dark staining urine. dal maps to Chromosome 7 and a previously described mutation named dark da maps to the same chromosomal region. Dark-like may be a remutation to dark da.However a test for allelism is not possible because dark is thought to be extinct. Mice homozygous for the dal mutation are easily recognized by 14 days of age by their darkened coats and smaller size. Some homozygotes appear, both phenotypically and pathologically (dense bones), to have skeletal abnormalities however X-rays appear normal. At 7 months of age females had no follicles and many corpora lutea and males mild testicular degeneration with increased Leydig cells. Serum assays for Albumin, BUN, Creatine, Bilirubin, and iron showed no significant differences from controls. | ||
| 012426 | CBACa.129S6(Cg)-Ush1ctm1Bkts/J | Cryopreserved - Ready for recovery |
| These mice contain a mutation designed to replace gene function of the endogenous mouse Ush1c gene with the human USH1C function. They also contain a mutation (216G->A) designed to retain the endogenous mouse Ush1c sequence. Mice with this mutation carry the same truncated USH1C mRNA transcript and splicing defect as found in the cochleae and retinas of Usher 1C patients. Mice homozygous for Ush1c216A are viable, fertile, and exhibit behavioral characteristics of deaf mice; they are hyperactive, display circling and head tossing behavior, and do not have a Preyer reflex. They also develop retinal degeneration, as evident by absent auditory-evoked brainstem responses and progressive loss of rod photoreceptors, providing a novel resource to study the disease mechanism and the development of therapies. | ||
| 000965 | CBACa.C3-KitW-x/J | Cryopreserved - Ready for recovery |
| 003581 | CBy.129S4-Dab1tm1Cpr/J | Cryopreserved - Ready for recovery |
| Homozygous Dab1-null mice become tremulous and ataxic at approximately postnatal day 10. Multiple defects can be detected in brain tissue. Lamellar structures in the cortex and hippocampus appear disorganized and the cerebellum is small and disorganized. Although homozygotes null reportedly die at 4-5 weeks on a mixed B6,129 or 129/Sv background, mice on a BALB/cByJ are viable. | ||
| 007578 | CBy.Cg-Tg(HDexon1)61Gpb/J | Cryopreserved - Ready for recovery |
| Mice have been generated that are transgenic for the 5' end of the human HD gene carrying approximately 100 CAG repeat expansions. In this founder line (61Gpb), the transgene is ubiquitously expressed. Transgenic mice exhibit a progressive neurological phenotype that mimics many of the features of HD, including choreiform-like movements, involuntary stereotypic movements, tremor, and epileptic seizures, as well as nonmovement disorder components, including unusual vocalization. They urinate frequently and exhibit loss of body weight and muscle bulk through the course of the disease. Neurologically they develop Neuronal Intranuclear Inclusions (NII) which contain both the huntingtin and ubiquitin proteins. These NII have also been identified in human HD patients. The age of onset of HD symptoms is reported to occur between 15 and 21 weeks for this 61Gpb line. On the BALB/cByJ genetic background, the CAG tract remains somatically stable throughout the life span of the mouse but may contr ..... For more information please see the full phenotype on the strain data sheet | ||
| 002766 | CBy.MRL-Fbxw4Dac-2J/J | Cryopreserved - Ready for recovery |
| 008338 | CByJ.B6(Cg)-Rag2tm1Cgn/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the RAG-2fl allele are viable and fertile, with loxP sites flanking exon 3 of the targeted gene. When bred to mice that express Cre recombinase, the resulting offspring will have this region (coding for the entire RAG-2 protein) deleted in the cre-expressing tissue(s). These RAG-2fl mice may be useful in generating conditional mutations for studying the role of RAG-2 in B and T cell development (including cancer and toxicology research as a xenograft/transplant host), T and B cell receptor (V(D)J) recombination, hematopoiesis, hematology, immunology, and inflammation research.
For example, when bred to a strain with inducible Cre recombinase expression in liver and lymphocytes (see Stock No. 003556), this mutant mouse strain may be useful in studies of B and T cell development. In an attempt to offer alleles on well-characterized or multiple genetic background ..... | ||
| 002839 | CByJ.LAH-Dsg4lah/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the Dsg4lah mutation have thicker, stiffer skin and a fine scale within a few days of birth. The epidermal keratinocytes have a hyperproliferative phenotype. These mice fail to develop normal fur, and have alopecia and shortened vibrissae. Although all hair types are found, the hair is very sparse and is shorter and more rough than normal. Rather than the normal gradual transition of keratinocytes from proliferation to differentiation in the lower hair follicle, the lanceolate hair mice show a premature, abrupt switch. Above the melanogenic zone, a swelling forms that subsequently is pushed out by continued growth of the hair shaft to become the distal tip of the hair. Lanceolate hair mice take their name from the resulting lance-head shape of the hair. Homozygotes can breed, but heterozygous females are better mothers than homozygotes. Unlike Dsg4lah-J homozygotes, Dsg4lah homozygotes do not have growth re ..... For more information please see the full phenotype on the strain data sheet | ||
| 003395 | CD1-Tg(Igh-HOX11)11Idd/J | Cryopreserved - Ready for recovery |
| This transgenic strain is a good tool for developing therapies for non-Hodgkins lymphoma. Heterozygous mice appear normal and healthy at birth but die in their second year of life. More than 85% of of these mice die from mature B cell lymphoma. No homozygous TLX1 mice were identified in offspring of heterozygous matings, suggesting that homozygotes are not viable. | ||
| 000293 | CHMU/LeJ | Cryopreserved - Ready for recovery |
| Mice homozygous for the congenital hydrocephalus (Foxc1ch) spontaneous mutation die at birth, probably from inability to breathe. Homozygous mutant mice have bulging hemorrhagic cerebral hemispheres and open eyelids, urogenital abnormalities, and severely abnormal skull, cervical vertebrae, sternum, laryngeal cartilages, and hyoid bone. The hydrocephalus may trace to lack of formation of subarachnoid space, which is first detectable in 11-day embryos. Most of the defects in the head region are probably secondary to the severe displacements created by the hydrocephalus. Mice homozygous for the muted spontaneous mutation (Mutedmu), maintained in repulsion with congenital hydrocephalus, have light eyes at birth and their fur is a muted brown shade, often with white underfur. Some have a balance defect, similar to that of pallid (Pldnpa). Homozygous mutant mice show head-tilting and loss of postural reflexes, due to absence of otoliths ..... For more information please see the full phenotype on the strain data sheet | ||
| 004416 | D2(B6Ei)-twit/GrsrJ | Cryopreserved - Ready for recovery |
| Mice homozygous for this recessive mutation are recognizable by 2.5 - 3 weeks of age by their smaller body size, gaunt torso, frailty, and constant quivering which is most obvious from the nose to the abdominal-thoracic area. Mutants also show poor ability to hold onto an edge with either their fore- or hindlimbs. Adult mutants may chatter excessively. Some homozygous mutants die before weaning; others survive through adulthood but they are unreliable breeders. twithas been mapped between the flanking markers D14Mit44 and D14Mit175 in the B band of Chr 14 at 22.9 Mb and 27.9 Mb, respectively. | ||
| 003219 | D2.129P2(B6)-Nr5a1tm1Klp/EiJ | Cryopreserved - Ready for recovery |
| Mice homozygous for the Nr5a1tm1Klp (formerly Ftzf1tm1Klp) targeted mutation exhibit adrenal and gonadal agenesis. There is also an absence of the ventromedial hypothalamic nucleus leading to impaired expression of gonadotrope specific markers. | ||
| 006003 | D2.129P2(Cg)-Cbx2tm1Cim/Ei | Cryopreserved - Ready for recovery |
| 008443 | D2.129S2(Cg)-Fn1tm1Hyn/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the Fn1tm1Hyn targeted mutation die during early embryonic development. Blastocyst development and implantation of homozygotes is normal. Gastrulation is initiated and appears normal, including extensive mesodermal movement. From embryonic day 8 onwards homozygous mutant embryos deteriorate through the 10th and 11th days of gestation. Homozygous mutant embryos have a shortened anterior-posterior axes, fail to develop a notochord or somites, and have abnormal development of the heart, blood vessels, and yolk sac indicating a general deficiency in mesodermally derived tissues. Heterozygous mice are viable for at least 2 years and appear healthy and approximately the same size as wild-type littermates. Plasma levels of fibronectin in heterozygotes are 50% lower than normal wild-type siblings. In an attempt to offer alleles on well-characterized or multiple genetic backgrounds, alleles are frequently moved to a genetic background different from t ..... | ||
| 006817 | D2.129S4(Cg)-Wt1tm1Jae/EiJ | Cryopreserved - Ready for recovery |
| 006768 | D2.Cg-Tg(Myh6-Zfpm2)1Sho/EiJ | Cryopreserved - Ready for recovery |
| 003507 | D2;B6-Npr3lgj-2J/J | Cryopreserved - Ready for recovery |
| Homozygous mutants are identifiable as young as six days of age by their elongated bodies and digits and a conical extension of the body at the base of the tail. Older mice are extremely thin and exhibit arachnodactyly, thoracic kyphosis and, often, kinks in the tail and/or sacrum. Upon necropsy, mice are found to lack normal body fat deposits. No significant craniofacial defects have been observed. Skeletal analysis demonstrated delayed endochondrial ossification, most obvious in the hind- and forepaws but affecting the entire skeleton. Retarded ossification was apparent in neonates and presumably occurs in utero.Both male and female Npr3lgj-2J/Npr3lgj-2Jmice are fertile and can breed. An earlier mutation at this locus, Npr3lgj, in the BALB/cJ inbred strain (stock number 003206) produces a similar phenotype. However, homozygous males of this stock number 003206 cannot reproduce because their more extreme spinal defect prevents ..... | ||
| 002838 | DBA/1LacJ-Dsg4lah-J/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the Dsg4lah-J mutation completely lack vibrissae and develop only very short hair that resembles peach fuzz. This is lost by a few months of age, leaving these mice bald. They are runted from birth throughout life. These mice have hyperplasia in the interfollicular epidermis that leads to thickened skin, and their skin wrinkles as they age. Transmission electron micrographs of epidermis from Dsg4lah-J homozygotes reveals acantholysis with small, poorly formed, and dislodged desmosomes. Rather than the normal gradual transition of keratinocytes from proliferation to differentiation in the lower hair follicle, the lanceolate hair mice show a premature, abrupt switch. Above the melanogenic zone a swelling forms that subsequently is pushed out by continued growth of the hair shaft to become the distal tip of the hair. Lanceolate hair mice take their name from the resulting lance-head shape of the hair. The less severely affect ..... For more information please see the full phenotype on the strain data sheet | ||
| 004423 | DBA/1LacJ-Lrp4mdig/GrsrJ | Cryopreserved - Ready for recovery |
| Homozygotes have variable brachydactyly and syndactyly of all four feet and incomplete polydactyly can occur in the front feet. | ||
| 002337 | DBA/2J-pdw/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the recessive proportional dwarf (pdw) mutation can be identified by 25 days of age, having shortened limbs, tail, head, and body. Abnormalities were not detected in growth plates and skeletal mineralization patterns. Some pre-wean mortality has been reported. Both female and male homozygotes are fertile. (Sweet et al., 1992.) | ||
| 006057 | DBA/2J-sky/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the severe kyphosis mutation have open eyelids at birth, a progressive S-shaped kyphosis of the lumbar region of the spine, and a resultant shortened trunk and higher tail position. Small granulomas in muscle and brown fat are also found. Death usually occurs between 3 and 6 months of age and homozygotes do not breed. | ||
| 000252 | DC/LeJ | Cryopreserved - Ready for recovery |
| Mice heterozygous for the semidominant dancer mutation exhibit head tossing and circling behavior. Heterozygotes are not deaf, but have defects in the vestibular region (Wenngren et al., 1989). Homozygotes die at birth with cleft lip and cleft palate (Deol et al., 1966). Strain background influences cleft lip/palate expression in heterozygotes (Trasler et al., 1982). Positional cloning of Dc revealed a 3.3 kb insertion of the Tebp gene into the first intron of Tbx10. The insertion causes ectopic expression of a Tebp-Tbx10 chimeric transcript (Bush et al., 2004). | ||
| 000253 | DLS/LeJ | Cryopreserved - Ready for recovery |
| Mice homozygous for the dilute-lethal spontaneous mutation (Myo5ad-l) display a severe neuromuscular disorder characterized by convulsions and opisthotonus. Homozygous mutant mice usually die by approximately 3 weeks of age. Dilute lethal homozygotes lack smooth endoplasmic reticulum in the dendritic spine of Purkinje cells causing an absence of intracellular calcium. Loss of this intracellular calcium may be the cause of dilute-lethal neurological symptoms. Homozygous dilute-neurological mutant mice (Myo5ad-n, Stock No. 001013) display a neuromuscular disorder, but the condition is less severe than in dilute-lethal homozygotes. In this DLS/Le inbred strain the dilute-lethal mutation is maintained in repulsion with short ear (Bmpse), closely linked mutations on Chromosome 9. | ||
| 000681 | DW.C3-Mlph+ Pou1f1+/J | Cryopreserved - Ready for recovery |
| This DW/J congenic strain is wildtype for both the leaden (+Mlph-ln) and dwarf ( +Pit1-dw) mutations and thus serves as a control strain for DW/J-Pit1dw/+ Mlphln/Mlphln, Stock No. 000643. | ||
| 000643 | DW/J Mlphln Pou1f1dw/J | Cryopreserved - Ready for recovery |
| Mice homozygous mice for the dwarf spontaneous mutation (Pou1f1dw) are characterized by severe dwarfing, sterility, and hypothyroidism. Adult dwarf mice are about one-fourth to one-third the size of wildtype mice. There is a lack of growth hormone, prolactin and thyroid stimulating hormone producing cells in the anterior pituitary leading to severe endocrine deficiency of these hormones. Homozygous mutant mice show a transient loss in cortical thymocytes associated with the primary defect in anterior pituitary. | ||
| 001595 | DW/J-Acdacd/J | Cryopreserved - Ready for recovery |
| acd/acd homozygotes can be distinguished from their wildtype (?/+) littermates by darkened pigmentation, short, curly vibrissae, smaller overall size, and abnormal pelage. Hair growth is retarded and lacks zigzag and guard hairs producing a sparse coat. There is heavy pigmentation in the nose, ears, body, feet and tail, and foci of melanin are also found in the skin and lymph nodes. Tail kinks or polydactyly of the hind feet are sometimes found and external genitalia are underdeveloped. It is rare for homozygotes to breed. Hydronephrosis is sometimes found in post-wean aged homozygotes resulting from focal hypertrophy of ureteral epithelium which causes ureteral blockage. The adrenals are abnormal in both males and females. Although the size of the medullary cells is normal, the cortical cells and nuclei are much larger than normal with nuclear inclusions and many mitochondria in the cytoplasm. These mitochondria have tubular cristae and cholesterol ester droplets, whic ..... For more information please see the full phenotype on the strain data sheet | ||
| 000092 | FL/1Re-KitW/J | Cryopreserved - Ready for recovery |
| Flexed tail homozygotes can be identified hematologically as earlyas embryonic day 13 and are detectably paler than normal by embryonic day 16, with most paler than normal by embryonic day 15. Homozygotes are small at birth and have a transitory siderocytic hypochromic anemia due to defective heme synthesis in fetal but not adult reticulocytes. Fetal erythrocytes have more alpha hemoglobin synthesis than beta hemoglobin synthesis. Very high numbers of siderocytes are found at birth and this decreases during the first few weeks of life and stabilizes at approximately 3 weeks of age with 3% siderocytes, significantly higher than in wildtype adults. Most homozygotes have a belly spot and 1 to 5 flexures in the tail due to vertebral fusions. Vertebral fusions are also found elsewhere in the vertebral column. Fewer than expected homozygotes are generated indicating prenatal death and the postnatal death rate is approximately 4 times normal. A small minority of homozygotes have been ..... For more information please see the full phenotype on the strain data sheet | ||
| 000023 | FL/1ReJ | Cryopreserved - Ready for recovery |
| Flexed tail homozygotes can be identified hematologically as earlyas embryonic day 13 and are detectably paler than normal by embryonic day 16, with most paler than normal by embryonic day 15. Homozygotes are small at birth and have a transitory siderocytic hypochromic anemia due to defective heme synthesis in fetal but not adult reticulocytes. Fetal erythrocytes have more alpha hemoglobin synthesis than beta hemoglobin synthesis. Very high numbers of siderocytes are found at birth and this decreases during the first few weeks of life and stabilizes at approximately 3 weeks of age with 3% siderocytes, significantly higher than in wildtype adults. Most homozygotes have a belly spot and 1 to 5 flexures in the tail due to vertebral fusions. Vertebral fusions are also found elsewhere in the vertebral column. Fewer than expected homozygotes are generated indicating prenatal death and the postnatal death rate is approximately 4 times normal. A small minority of homozygotes have been ..... For more information please see the full phenotype on the strain data sheet | ||
| 000619 | FS/EiJ | Cryopreserved - Ready for recovery |
| The FS/Ei strain was originally used as a linkage testing stock for gene mapping. It is homozygous for several visible recessive mutations including brown (Tyrp1b), pink-eyed dilution (Oca2p), chinchilla (Tyrc-ch), frizzy (fr), and the neurological mutation shaker 1 (Myo7ash1). It is also homozygous for a couple allelic variants that can be easily typed (Mod2b and Hbbd). Mice homozygous for the shaker 1 show circling, head-tossing, deafness, and hyperactivity characteristic of this type of mutant mice. Viability is normal, and breeding ability is high for a circling mutant. Homozygous mutant mice are most often deaf and swim well on the surface of water up to 4 weeks of age and more but lose the ability later. The degenerative changes of the labyrinth may occur a little later than in some of the other waltzing mutants. By light microscopy, the changes are seen to consist ..... For more information please see the full phenotype on the strain data sheet | ||
| 005021 | FVB-Tg(ZP2)2Dean/J | Cryopreserved - Ready for recovery |
| These transgenic mice express the human zona pellucida 2 (ZP2) protein. Mice hemizygous for the transgenic insert are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. Homozygotes die shortly after birth. Transgene expression (mRNA and protein) is oocyte specific. This transgene rescues the homozygous null Zp2 infertility phenotype (see Stock No. 004129). This mutant mouse strain represents a model that may be useful in studies of reproduction and fertility. | ||
| 013156 | FVB-Tg(tetO-CDK5R1*)1Vln/J | Cryopreserved - Ready for recovery |
| These tetO-CDK5R1* mice express a truncated human cyclin-dependent kinase 5, regulatory subunit 1 (CDKR1 or p35) cDNA sequence, also referred to as p25, under the control of a tetracycline operator (tetO; also called tetracycline-responsive element (TRE, TetRE) or tet-operator). The N-terminal truncated isoform of p35 is p25. Unlike p35, which is membrane bound in postmitotic neurons in the brain, p25 is non-tethered and expression is seen in all cellular compartments of neuronal somata and dendrites. Mice that are hemizygous for this transgene are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. When bred with another mouse expressing reverse tetracycline-controlled transactivator protein (rtTA) or tetracycline-controlled transactivator protein (tTA), CDK5R1 expression can be regulated with the tetracycline analog doxycycline (dox) in the resulting double mutant offspring. For example, when bred to a strain expressing ..... For more information please see the full phenotype on the strain data sheet | ||
| 007225 | FVB.129(B6)-Usp18tm1Dzh/J | Cryopreserved - Ready for recovery |
| Homozygous Usp18 (or Ubp43) mutant mice on the FVB/N genetic background are viable and fertile, exhibiting none of the severe neurologic disorders that lead to embryonic lethality or early death reported for Ubp43-deficient mice on a C57BL/6 or mixed B6;129 genetic background. In contrast to wildtype mice, thymi from homozygous mice injected with LPS exhibit no protein from the targeted gene. Expression of the lacZ cassette is observed in both heterozygous and homozygous brain tissues. Homozygous mice are hypersensitive to type I interferon (IFN) and undergo apoptosis upon IFN stimulation. Ubp43-deficiency results in enhanced and prolonged STAT1 phosphorylation, DNA binding, and increased induction of hundreds of interferon stimulated genes (ISGs). Homozygous mice exhibit greater resistance to the cytopathic effects caused by a number of viruses (including lymphocytic choriomeningitis virus (LCMV), vesicular stomatitis virus (VSV), and Sindbis virus (SNV)). Ubp43-defici ..... For more information please see the full phenotype on the strain data sheet | ||
| 012563 | FVB.129(Cg)-Slc9a3tm1Ges/J | Cryopreserved - Ready for recovery |
| These mice harbor a targeted mutation of the Na+/H+ exchanger isoform 3 locus (Nhe3 or Slc9a3) that abolishes endogenous gene expression. While no full-length mRNA is detected in kidney or intestine of homozygous mice, a truncated mutant mRNA lacking codons 320-831 (encoding sequences required for Na+/H+ exchange) is observed but expected to impart no dominant negative effects. When maintained as congenic on the FVB/N genetic background, homozygous mice exhibit a high mortality rate beginning just after weaning, with ~30% surviving to adulthood. Homozygous females are fertile, but homozygous males are infertile.
Homozygous (Nhe3-null) mice lack Na+/H+ exchanger isoform 3 function, and exhibit impaired intestinal absorption; resulting in severe diarrhea, altered salt and water homeostasis, and increased luminal fluid throughout the intestinal tract. Nhe3-null mice have increased PCNA-positive cells in the cryp ..... For more information please see the full phenotype on the strain data sheet | ||
| 005057 | FVB.129-Kcnj2tm1Swz/J | Cryopreserved - Ready for recovery |
| Mice that are homozygous for the targeted mutation have a complete cleft of the secondary palate and die within 12 hours of birth. Heterozygotes are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. No gene product (mRNA or protein) is detected by Northern blot analysis of cardiac tissue or Southern blot analysis. Inwardly rectifying potassium ion currents are absent in cerebral artery myocytes and cardiac ventribular myocytes isolated from homozygote neonates. Elevated external potassium ion concentrations do not dilate isolated neonatal cerebral arteries. Homozygotes exhibit altered electrocardiogram profiles indicative of reduced heart rate and bradycardia. This mutant mouse strain may be useful in studies of potassium ion dependent vasodilation, cardiac arrythmia such as Anderson syndrome, cleft palate and developmental bone malformation. | ||
| 003024 | FVB.129P2(B6)-Fmr1tm1Cgr/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the Fmr1tm1Cg targeted mutation show macroorchidism (enlarged testes), learning deficits, and hyperactivity. Macroorchidism in caused by an increased rate of Sertoli cell proliferation during embryogenesis which may be independent of FSH signalling. Comparison of homozygotes to wildtype littermates in hidden- and visible-platform water maze learning showed deficits in spatial learning and motor performance. | ||
| 008315 | FVB.129P2(Cg)-Hlxtm1Rph/J | Cryopreserved - Ready for recovery |
| Homozygous null mice have an embryonic lethal phenotype. Homozygous mice on the C57BL/6 and B6;129 mixed background fail to develop past embryonic days 15.5 due to impaired fetal hematopoiesis (anemia, hypoplastic and abnormal development of the liver, hypoplastic gut). Homozygous mice on the FVB/N background survive through embryonic day 18.5 and dead homozygote newborn pups are observed. Late gestation homozygous embryos on the FVB/N background are smaller than wild-type littermates, pale, hydropic (subcutaneous fluid ballooning skin), and have impaired neural crest cell and enteric neuron migration from the stomach to intestine. Mice that are heterozygous for the targeted mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. Naive CD4 T cells from heterozygotes exhibit increased responsiveness to IL-4, resulting in differentiation of more Th2 cells. This mutant mouse strain may be useful in studies of liver and gastrointestin ..... For more information please see the full phenotype on the strain data sheet | ||
| 005710 | FVB.129S-Mmp13tm1Werb/J | Cryopreserved - Ready for recovery |
| Mice that are homozygous for this loxP-flanked ("floxed") allele are viable and fertile with normal endogenous gene function. Cre-mediated recombination results in replacement of exons 3-5 of targeted gene with a single loxP site. When bred to cre-expressing transgenic strains, these floxed mutant mice may be used to generate whole mouse or tissue-specific targeted mutants that may be useful in examining extracellular matrix remodeling and bone development. Of note: when these floxed mice are bred to mice containing a beta-actin promoter-driven cre transgene the resulting cre-positive, homozygous-null mice show robust accumulation of cartilage matrix caused by a transient expansion of the hypertrophic zone and increased trabecular bone mass that persists for months. | ||
| 002935 | FVB.129S2(B6)-Ccnd1tm1Wbg/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the targeted mutation develop to term but show growth retardation that is most pronounced by three weeks of age. The majority of mutant mice die early in life, often within the first month. Survivors continue to show lower than average weight and increased mortality. Mammary gland epithelial duct development is normal in virgin mutant mice. Mutant females that survive to adulthood are fertile, but mammary glands of pregnant mice show a dramatic impairment in the expansion of alveolar lobes and mice are unable to lactate. Steroid hormone levels are normal, and there is no apparent defect in estrogen receptor number, suggesting that cyclin D1 deficiency has an effect on the target tissue directly. Mutant mice demonstrate a neurological abnormality evidenced by limb retraction when lifted by their tails. The most severely affected animals remain in a clasped, flexed position for a few seconds after they have been returned to their cage. Retinal abnormalities include a ..... For more information please see the full phenotype on the strain data sheet | ||
| 002900 | FVB.129S2(B6)-Rb1tm1Tyj/J | Cryopreserved - Ready for recovery |
| Mice homozygous for this targeted mutation die in utero. Homozygous embryos are morphologically indistinguishable from normal embryos at 12.5 days post coitum, but then die between 13.5 d.p.c and 14.5 d.p.c. Defects are seen in fetal liver hematopoiesis as well as in lens and nervous system development. Heterozygous mice, which are analogous to human carrier individuals, do not develop retinal tumors, but do develop pituitary tumors by 8 months of age. In an attempt to offer alleles on well-characterized or multiple genetic backgrounds, alleles are frequently moved to a genetic background different from that on which an allele was first characterized. This is the case for this strain. It should be noted that the phenotype could vary from that originally described. We will modify the strain description if necessary as published results become available. | ||
| 008665 | FVB.129S6-Fmn1tm2Made/J | Cryopreserved - Ready for recovery |
| Mice that are homozygous for the targeted mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. None of the major splice variants of Fmn1 are detected by Northern blot analysis. No gene product (protein) is detected by Western blot analysis of MEFs. Homozygotes display digital oligodactyly phenotype, with absent fibula. 50% of homozygotes (on the FVB background) exhibit unilateral renal aplasia. This mutant mouse strain may be useful in studies of limb development, digital oligodactyly, and kidney development. | ||
| 006867 | FVB.B6-Ins2Akita/MlnJ | Cryopreserved - Ready for recovery |
| FVB/NJ mice heterozygous for the Akita spontaneous mutation are viable and fertile. The donating investigator reports that the symptoms in heterozygous mutant mice are more severe than those observed in C57BL/6-Ins2Akita mice (Stock No. 003548). These symptoms include hyperglycemia (females > 600mg/dl, males ~560 mg/dl), hypoinsulinemia, polydipsia, and polyuria, beginning at approximately 3-4 weeks of age. In contrast to Akita heterozygotes on a C57BL/6 background, FVB/NJ adult heterozygous females are more hyperglycemic than heterozygous males. Obesity and insulitis do not accompany diabetes. Ins2 is expressed in the fetal yolk sac and is maternally imprinted. Heterozygous mutant females become more hyperglycemic during pregnancy, and are susceptible to embryo malformations leading to reabsorption, even with insulin therapy. Heterozygous mutant males do not produce mutant and wild-type o ..... For more information please see the full phenotype on the strain data sheet | ||
| 013100 | FVB.C-Prdm16csp1/J | Cryopreserved - Ready for recovery |
| Mice heterozygous for the csp1 ENU-induced mutation, are viable, fertile, and normal in size. Homozygous mutants exhibit the cleft palate (CP) phenotype and perinatal lethality with respiratory failure. The occurrence of the CP phenotype in homozygous csp1 mice drops to 9% after backcrossing onto the C57BL/6J background for four generations, although 93% of these mice still die shortly after birth and still exhibit respiratory failure. Approximately 6% of heterozygous mutant mice exhibit the (CP) phenotype. These csp1 mice possess a C to A mutation within intron 6 of the PR domain containing 16 (Prdm16) gene, resulting in vairable absence of exon 7 and early termination within exon 8. It is unclear if this truncated PRDM16 protein is stable in csp1. The CP phenotype of these csp1 mice is exhibited by micrognathia and failed palate shelf elevation due to physical obstruction by the tongue, resembling human Pierre Robin sequence (PRS)-like ..... For more information please see the full phenotype on the strain data sheet | ||
| 008343 | FVB.Cg-Hydinhy3/MlrJ | Cryopreserved - Ready for recovery |
| Mice homozygous for the hydrocephalus 3 spontaneous mutation of the hydrocephalus inducing gene (Hydinhy3) are usually identifiable at three to five days. Those with frank hydrocephalus develop hydrocephalus with early perinatal onset, and most animals die by three to five weeks of age. Penetrance is incomplete. Hydrocephalus is associated with a central pair defect impairing ciliary motility and fluid transport in the brain. Hydin-deficiency also impairs
the beat pattern of ependymal and tracheal cilia. These Hydinhy3 mutant mice may be useful in neurological and developmental studies.
In an attempt to offer alleles on well-characterized or multiple genetic backgrounds, alleles are frequently moved to a genetic background different from that on which an allele was first characterized. It should be noted that the phenotype could vary from that originally described. We will modify the strain description if necessary as published results become ..... | ||
| 007031 | FVB.Cg-Krt8tm1Rgo/J | Cryopreserved - Ready for recovery |
| Homozygous mutants display an incompletely penetrant, reduced viability that is genetic background dependent. On this FVB congenic background, approximately half of homozygous mutant pups die during embryonic development due to placental insufficiency. Maternal TNF (tumor necrosis factor) and TNFR2 (TNFRSF1B, tumor necrosis factor receptor superfamily, member 1b) influence survival of null embyos. Surviving homozygous females have markedly reduced productivity, but males are fertile. Homozygous adult mice develop inflammatory bowel disease, diarrhea, and colorectal hyperplasia with occasional anorectal prolapse. Lesions affect the cecum, remaining colon and rectum, but only minimally affect the small intestine. Elongation of the colonic crypts is accompanied by an inflammation of the lamina propria and submucosa. Livers from homozygous mutant mice display mild injury under basal conditions but a very high sensitivity to toxins and apoptotic stimuli. Minor liver and intestinal sensitivi ..... For more information please see the full phenotype on the strain data sheet | ||
| 008209 | FVB.Cg-Smn1tm1Msd Tg(ACTA1-SMN)69Ahmb Tg(SMN2)89Ahmb/J | Cryopreserved - Ready for recovery |
| As described for SMA mice (see Stock No. 005024), mice homozygous for Smn1tm1Msd targeted mutation (Smn null allele) and human SMN2 low copy line 89 transgene exhibit symptoms, neuropathology, and early lethality similar to human type I proximal spinal muscular atrophy (SMA) patients. As an addition to that SMA model, this strain also carries the HSA-SMN transgene; with the human alpha-skeletal actin (HSA or ACTA1) promoter directing full-length human SMN expression at high levels in skeletal muscle. When the HSA-SMN transgene is derived from HSA69-SMN founder mice, skeletal muscle-specific SMN expression is preserved, and homozygous SMN2; Smn; HSA69-SMN mutant animals (Stock No. 008209) have the same phenotype as homozygous SMA mice. In contrast, expression of the HSA-SMN transgene derived from HSA63-SMN founder mice is leaky; with hi ..... For more information please see the full phenotype on the strain data sheet | ||
| 008206 | FVB.Cg-Smn1tm1Msd Tg(SMN2)566Ahmb/J | Cryopreserved - Ready for recovery |
| As described for SMA mice (see Stock No. 005024), mice homozygous for Smn1tm1Msd targeted mutation (Smn null allele) and single copy human SMN2 low copy line 89 exhibit symptoms, neuropathology, and early lethality similar to human type I proximal spinal muscular atrophy (SMA) patients. In contrast to that SMA model, this strain carries the high copy SMN2 (founder line 566) transgene instead of the single copy SMN2 (line 89) transgene. As a result of the high SMN2 copy number, mice homozygous for the Smn1tm1Msd targeted mutation and high copy SMN2 line 566 (16 copies when homozygous) are rescued from all overt features of the severe SMA phenotype. Homozygous Smn; SMN2 high copy line 566 mice have a shorter and thicker tail. These Smn; SMN2 high copy line 566 mutant mice may be useful in neuromuscular studies including spinal muscular atrophy (SMA). | ||
| 006297 | FVB.Cg-Tg(Eno2-cre)39Jme/J | Cryopreserved - Ready for recovery |
| Mice hemizygous for this NSE39-Cre transgene are viable, fertile, normal in size, and do not display any gross physical or behavioral abnormalities. These NSE39-Cre mice harbor a transgenic insert consisting of the Cre recombinase gene under the control of the promoter region of the rat neuron specific enolase (NSE or Eno2) gene. As such, Cre recombinase activity is directed to neurons with expression in many tissue types. When bred with mice containing a loxP-flanked sequence of interest, Cre-mediated recombination will result in deletion of the flanked genome. Specifically, these NSE39-Cre transgenic mice may also be useful in studies of spinal muscular atrophy (SMA) along with mice harboring a conditional (floxed) Smn1 gene (see Stock No. 006138 or Stock No. 006146).
Additional SMA strains expressing cre in striated muscle are available ..... | ||
| 006225 | FVB.Cg-Tg(SFTPC-rtTA)5Jaw/J | Cryopreserved - Ready for recovery |
| Hemizygous transgenic mice are viable, fertile, normal in size, and do not display any gross physical or behavioral abnormalities. The donating investigator reports that homozygous transgenic mice are not viable. These transgenic mice express the reverse tetracycline-controlled transactivator (rtTA) protein under the control of the human SFTPC, surfactant, pulmonary-associated protein C, promoter. rtTA activity is detected in lung peripheral epithelial cells from adult mice and in embryos from pregnant females treated with the tetracycline analog doxycycline (dox). In the latter, rtTA-induced expression of a luciferase reporter under the regulation of a tetracycline-responsive promoter (TRE; tetO) has been detected as early as embryonic day 10.5. When hemizygotes are mated to a second transgenic strain carrying a gene of interest under the regulatory control of a TRE, expression of the target gene in the bitransgenic offspring can be regulated by dox; in the presence of dox, tra ..... For more information please see the full phenotype on the strain data sheet | ||
| 006222 | FVB.Cg-Tg(Scgb1a1-rtTA)1Jaw/J | Cryopreserved - Ready for recovery |
| Mice hemizygous for the CCSP-rtTA transgene are viable, fertile, normal in size, and do not display any gross physical or behavioral abnormalities. These transgenic mice express the reverse tetracycline-controlled transactivator (rtTA) protein under the control of the rat Scgb1a1, secretoglobin, family 1A, member 1 (uteroglobin), gene promoter. rtTA activity is detected in bronchial and type II epithelial cells of lung tissue from adult transgenic mice and in embryos from pregnant females treated with the tetracycline analog doxycycline (dox). In the latter, rtTA-induced expression of a luciferase reporter under the regulation of a tetracycline-responsive promoter (TRE; tetO) has been detected as early as embryonic day 12.5. When hemizygotes are mated to a second transgenic strain carrying a gene of interest under the regulatory control of a TRE, expression of the target gene in the bitransgenic offspring can be regulated by dox; in the presence of dox, transcription of the targ ..... For more information please see the full phenotype on the strain data sheet | ||
| 006209 | FVB.Cg-Tg(Tal1-tTA)19Dgt/J | Cryopreserved - Ready for recovery |
| Hemizygotes are viable, fertile, normal in size, and do not display any behavioral abnormalities. Hemizygotes express tetracycline-controlled transactivator protein (tTA) in bone marrow hematopoietic stem cells (HSC) and in common myeloid progenitors (CMP)). tTA activity also is detected in lung. Little to no tTA activity is detected in thymus, lymph node, intestine or spleen. When bred to other transgenic mice carrying a gene of interest coupled to a tetracycline-responsive promoter element (TRE; tetO), expression of the target gene in the bitransgenic offspring can be induced by withdrawal of tetracycline or doxycycline. This strain represents an effective tool for generating bitrangenic animals to study inducible gene expression in blood stem and progenitor cells.
These mice were originally designed to be bred with transgenic mice harboring a TRE-BCR-ABL1 transgene (Stock No. 006202), creating bitransgenic offspring as a mo ..... | ||
| 007483 | FVB.Cg-Tg(Tyr)3412ARpw Tg(Sry-EGFP)92Ei/EiJ | Cryopreserved - Ready for recovery |
| On an albino background the X-linked transgene Tg(Tyr)3412ARpw permits visual identification of gender as early as embryonic day 10.5. This strain is segregating for Tg(Tyr)3412ARpw and homozygous for Tyrc-2J so the individuals not carrying Tg(Tyr3412)ARpw are albino. Because Tg(Tyr)3412ARpw inserted into the X Chromosome, breeding a carrier male with a noncarrier (wild-type) female results in embryos in which all XX individuals develop eye pigment, due to the Tg(Tyr)3412ARpw inherited from their father, while all XY individuals have non-pigmented eyes, having inherited a wild-type X Chromosome from their mother.
This strain is also homozygous for Tg(SryEGFP)92Ei. This reporter transgene consists of a 5' regulatory segment of the Sry gene driving EGFP. This transgene is expressed in the pre-support cell lineage (pre-sertoli and pre-granulosa cells) of the fetal genital ridge (Albrecht and Eicher, 2001) and in discrete areas the adult male but not female ..... | ||
| 011032 | FVB/N-Tg(Hoxc13)61B1Awg/J | Cryopreserved - Ready for recovery |
| Mice hemizygous for the transgene mice are viable, fertile and overexpress HOXC13. At birth, transgenic mice can be identified by a short tail (reduced number of verterbrae), taut skin, kinky whiskers and small size. By 4.5 months, mice exhibit retarded coat hair growth, followed by progressive alopecia and a hyperproliferative disorder resembling ichthyosis. Both cellular and squamous epidermal layers appear thickened, irregular and disorganized. Hair follicles are enlarged, and, in older mice, many follicles degenerate into cyst-like structures. | ||
| 012459 | FVB/N-Tg(Myh6*/tetO-Capn1)L2Gwd/J | Cryopreserved - Ready for recovery |
| Mice hemizygous for the MHCminTetO-Capn1 transgene are viable and fertile, normal in size and do not display any gross physical or behavioral abnormalities. Expression of Capn1 is regulated by a tetracycline operator (tetO), driven by an enhanced α-MHC promoter which limits calpain 1 expression in heart. When mated to a mutant strain expressing tetracycline-controlled transactivator protein (tTA), expression of calpain 1 protein may be regulated with tetracycline or its analog doxycycline (dox) in the double mutant offspring. Calpain 1 is necessary for proteolytic processing and subsequent proteasomal degradation of a subset of myocardial proteins whose abnormal accumulation produces autophagosomes and cardiomyocyte degradation. Calpain 1 is pathologically activated in myocardial ischemia and may be responsible for features of myocardial stunning. In overexpression systems, calpain 1 is lethal and leads to cardiac disease, while this s ..... For more information please see the full phenotype on the strain data sheet | ||
| 008716 | FVB/N-Tg(Myh6-AIP/PLN*)46Jded/J | Cryopreserved - Ready for recovery |
| SR-AIP transgenic mice carry the α-MHC-AIP4-SR transgene. Hemizygous SR-AIP mice are viable and fertile, with expression of AIP4 (a tetramer of the CaMKII autocamtide inhibitory peptide AIP) directed to the sarcoplasmic reticulum (SR) of the heart by the murine alpha-myosin heavy chain (α-MHC or Myh6) promoter and a truncated phospholamban (PLB) transmembrane domain (harboring two loss-of-function mutations to prevent direct SERCA inhibition by the fusion protein). FLAG epitope expression may be used to identify presence of the fusion protein. The SR-targeted AIP concatemer peptide binds CaMKII, preventing phosphorylation of PLB and subsequent activation of SERCA, thereby increasing diastolic intracellular calcium. Whole
heart function and diastolic relaxation are slightly impaired, and pregnancy leads to earlier onset of cardiac hypertrophy. These SR-AIP transgenic mice may be useful in studying sarcoplasmic reticulum-targeted CaMKII inhibitio ..... For more information please see the full phenotype on the strain data sheet | ||
| 012461 | FVB/N-Tg(Myh6-Cast)1Gwd/J | Cryopreserved - Ready for recovery |
| Mice hemizygous for the Myh6-Cast allele are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. Expression of Cast is regulated by an α-myosin heavy chain (Myh6) promoter, which results in the overexpression of calpastatain, a highly specific global inhibitor of calpain 1 and calpain 2, in the heart. Overexpression of calpastatin causes diminished ubiquitination of myocardial proteins resulting in a progressive dilated cardiomyopathy characterized by accumulation of intracellular protein aggregates, formation of autophagosomes, and degeneration of sarcomeres. These Myh6-Cast mice may be useful for assessing the consequences of cardiomyocyte-specific calpain inhibition in normal, ischemic, and failing hearts, and the contribution of endogenous calpains to myocardial protein turnover. | ||
| 007247 | FVB/N-Tg(YAC353G6)W7Hay/J | Cryopreserved - Ready for recovery |
| These transgenic mice express the human huntingtin protein containing a 133 CAG repeat expansion and a mutation in exon 13 conferring resistance to caspase-6 cleavage to the gene product.
Expected caspase-6 cleaved fragments are not detected in brain lysates by Western blot analysis. Transgenic mice have brain weight and striatal volume similar to wild-type controls and do not exhibit neuronal loss at 12 months of age when compared to transgenic mice that express human huntingtin protein containing a 128 CAG repeat (FVB-Tg(YAC128)53Hay/J Stock No. 004938). These transgenic mice have activity levels and motor function similar to wild-type controls, and are resistant to neuron excitotoxicity. Immunohistochemical analysis of striatal brain sections reveals delayed nuclear localization of mutant huntingtin protein in these transgenic mice at nine months of age. Between nine and 12 months of age, an increase of nuclear huntingtin i ..... | ||
| 003640 | FVB/NJ-Tg(YAC72)2511Hay/J | Cryopreserved - Ready for recovery |
| Mice homozygous for this transgene are viable and fertile. The human huntingtin transgenic protein is expressed widely in many tissues (identical to the endogenous huntingtin protein), but has highest levels of expression in the brain and testes. Electrophysiological abnormalities can be measured by six months. A behavioral phenotype is first detected at seven months when evidence of mild hyperkinetic movement disorder is noticeable. This disorder is characterized by progressive spontaneous hyperactivity during the dark phase of open field-testing. By 12 months of age selective degeneration of medium spiny neurons in the lateral striatum is observed. This degeneration is associated with the translocation of N-terminal huntingtin fragments to the nucleus. This strain represents a Huntington's Disease mouse model where a mutant full-length human huntingtin is expressed under control of its endogenous promoter. | ||
| 003265 | FVB;129-Adatm1Mw Tg(PLADA)4118Rkmb/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the Adatm1Mw targeted mutation die perinatally. They show defects in purine metabolism and have liver cell degeneration. Death is most likely the result of accumulation of ADA precursors. Mice from the double mutant strain FVB,129-Adatm1Mw Tg(PLADA)4118Rkmb/J (Stock No. 003265) are rescued from embryonic lethality by transgenic ADA expression in the placenta. Rescued mice that are homozygous for the null Ada allele exhibit a severe combined immunodeficiency. In addition, mice develop a severe lung eosinophilia reminescent of that seen in humans with asthma. Abnormalities were also found in the bone and kidney. ADA deficient mice die from severe respiratory distress by three weeks of age. Mice carrying a transgene overexpressiong ADA in both the placenta and forestomach, FVB;129-Adatm1Mw Tg(PLFSADA)2465Rkmb/J (Stock No. 003297), are rescued from postna ..... For more information please see the full phenotype on the strain data sheet | ||
| 003297 | FVB;129-Adatm1Mw Tg(PLFSADA)2465Rkmb/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the Adatm1Mw targeted mutation die perinatally. They show defects in purine metabolism and have liver cell degeneration. Death is most likely the result of accumulation of ADA precursors. Mice from the double mutant strain FVB,129- Adatm1Mw Tg(PLADA)4118Rkmb/J (Stock No. 003265) are rescued from embryonic lethality by transgenic ADA expression in the placenta. Rescued mice that are homozygous for the null Ada allele exhibit a severe combined immunodeficiency. In addition, mice develop a severe lung eosinopilia reminescent of that seen in humans with asthma. Abnormalities were also found in the bone and kidney. ADA deficient mice die from severe respiratory distress by three weeks of age. Mice carrying a transgene overexpressiong ADA in both the placenta and forestomach, FVB,129- Adatm1Mw Tg(PLFSADA)2465Rkmb/J (Stock No. 003297), are rescued from postnatal lethality at three weeks of age. Rescued mice that ..... For more information please see the full phenotype on the strain data sheet | ||
| 002700 | FVB;129P-Fmr1tm1Cgr/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the Fmr1tm1Cg targeted mutation show macroorchidism (enlarged testes), learning deficits, and hyperactivity. Macroorchidism in caused by an increased rate of Sertoli cell proliferation during embryogenesis which may be independent of FSH signalling. Comparison of homozygotes to wildtype littermates in hidden- and visible-platform water maze learning showed deficits in spatial learning and motor performance. | ||
| 000255 | GL/Le Edardl-J +/+ Ostm1gl/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the grey-lethal spontaneous mutation (Ostm1gl) are characterized by osteopetrosis. Homozygous mutant mice are anemic, have a reduced white cell count, early thymic involution, and deficient calcium regulation. Homozygotes lack the power of secondary bone resorption. Consequently, the bones cannot grow normally, they do not form normal marrow cavities, and the teeth do not erupt. | ||
| 000259 | JE/LeJ | Cryopreserved - Ready for recovery |
| Mice homozygous for the jerker spontaneous mutation (Espnje) show behavior typical of the circling mutants - head-tossing, circling, and hyperactivity. Homozygous mutant mice are deaf from birth and have no detectable stimulus-related cochlear potential at any stage. The abnormal behavior and deafness are associated with postnatal degeneration of the sensory cells of the cochlea and the sacculus and utriculus in homozygotes. The primary influence of the jerker gene appears to be on the apical hair cells, not development of neural structures. Heterozygous jerker mice undergo a similar type of degeneration, but the onset is delayed. Auditory brainstem response is totally absent in homozygotes while heterozygous mice undergo a progressive impairment with age. Flexed tail homozygotes can be identified hematologically as earlyas embryonic day 13 and are detectably paler than normal by embryonic day 16, with most paler than normal by embryonic day 15. Homozygotes ar ..... For more information please see the full phenotype on the strain data sheet | ||
| 000260 | JGBF/LeJ | Cryopreserved - Ready for recovery |
| Mice homozygous for the recessive buff (Vps33abf) mutation on a non-agouti (a/a) background have a lightened coat color that has been described as khaki. On an agouti background, Vps33abf homozygotes have dark ears, opaque eyes, and the belly is lighter in color than is the rest of the coat. Although no change in eye color is outwardly evident, electron microscopy shows fewer and smaller melanosomes than normal in the retinal pigment epithelium and choroid. These mutants have a platelet-storage pool defect evidenced by an increased bleeding time of 9.7 minutes on average, a reduction in the number of platelet dense granules, and slightly decreased collagen-mediated platelet aggregation, secretion of dense-granule ATP and secretion of seratonin. Hakansson and Lundin found increased activity of the lysosomal glycosidases beta- galactosidase, beta-glucuronidase, and N-acetyl-beta-hexosaminidase in kidney cell lysates. Suzuki et al.> ..... For more information please see the full phenotype on the strain data sheet | ||
| 000072 | JGBF/LeTyJ | Cryopreserved - Ready for recovery |
| Mice homozygous for the recessive buff (Vps33abf) mutation on a non-agouti (a/a) background have a lightened coat color that has been described as khaki. On an agouti background, Vps33abf homozygotes have dark ears, opaque eyes, and the belly is lighter in color than is the rest of the coat. Although no change in eye color is outwardly evident, electron microscopy shows fewer and smaller melanosomes than normal in the retinal pigment epithelium and choroid. These mutants have a platelet-storage pool defect evidenced by an increased bleeding time of 9.7 minutes on average, a reduction in the number of platelet dense granules, and slightly decreased collagen-mediated platelet aggregation, secretion of dense-granule ATP and secretion of seratonin. Hakansson and Lundin found increased activity of the lysosomal glycosidases beta- galactosidase, beta-glucuronidase, and N-acetyl-beta-hexosaminidase in kidney cell lysates. Suzuki et al. ..... For more information please see the full phenotype on the strain data sheet | ||
| 000572 | JIGR/DnJ | Cryopreserved - Ready for recovery |
| JIGR/Dn is maintained with jittery (Atcayji) and grizzled (gr) in repulsion.
Atcayji homozygotes can first be identified at approximately 12 days of age by a leaning, zig-zag gait when they attempt to run and by the difficulty they have righting themselves when placed on their backs. Disease progression is rapid such that within two more days mutants are found to crouch on their heels in a squatting position and can not run without falling. Within three to four days of the first symptoms, tetany is seen during exertion or excitement. This is initially most pronounced in the forelegs, which the mice beat up and down during these two- to three-second spasms. Failure to gain weight is seen by the third week of life and it is unclear whether this results from an inability to take in food. The severity and frequency of tetany increases, and during the fourth week weight loss and increased weakness precede death. The mean age of death is approxi ..... | ||
| 000289 | LDJ/LeJ | Cryopreserved - Ready for recovery |
| Attractin (ATRN) deficiencies cause darkened pigmentation, increased locomotor activity, decreased body weight, and vacuolization and myelination defects in the central nervous system.
Agouti protein competes with alpha-melanocyte stimulating hormone (a-MSH) for binding of melanocortin 1 receptor (MC1R), and this in turn signals pigment type switching from eumelanin production to pheomelanin production. ATRN interacts with agouti possibly to facilitate the interaction with MC1R. In mice, ATRN deficiencies result in decreased pheomelanin production causing darkened ears, tail, feet, and coat color which becomes dark reddish brown as these mice age. Thus, the initial Atrn mutation reported by Lane and Green was called mahogany (Atrnmg). ATRN deficiencies darken the coloring caused by nonagouti such that these mice are coal black with no white hairs behind the ears or around the perineum and have blacker ears, tail, and feet. ATRN deficiency can suppress the i ..... | ||
| 000220 | LPT/LeJ | Cryopreserved - Ready for recovery |
| 000262 | LS/LeJ | Cryopreserved - Ready for recovery |
| Mice homozygous for the lethal spotting mutation (Edn3ls) resemble piebald mice (Ednrbs/Ednrbs) mice. Homozygous mutant mice exhibit considerable white spotting and like homozygotes for the piebald-lethal allele (Ednrbs-l) usually develop megacolon. Lethal spotting mutant mice usually die in the third week of life from the megacolon abnormality, which is associated with deficiency of intrinsic ganglion cells in the lower colon. A few homozygotes may survive and breed. This strain is also homozygous for the black and tan coat color mutation (at). | ||
| 000265 | MY/HuLeJ | Cryopreserved - Ready for recovery |
| 000300 | MYD/Le-Os +/+ Largemyd/J | Cryopreserved - Ready for recovery |
| 002338 | NFS.Cg-Hm/J | Cryopreserved - Ready for recovery |
| 004083 | NOD.129(B6)-Prkdcscid Iduatm1Clk/J | Cryopreserved - Ready for recovery |
| At birth, mice that are homozygous null for the Idua gene are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. No alpha-L-iduronidase enzyme activity or mRNA is detected. By three weeks of age, homozygous null mice develop a flattened facial profile and a thickening of digits. Defective bone formation is noticeable by fifteen weeks, characterized by a broadening and thickening of long bones. Evidence of lysosomal storage disorder is apparent in cells of the reticuloendothelial system at four weeks. By eight weeks progressive evidence of lysosomal storage is seen in Kupffer cells, splenic sinusoidal lining cells, chondrocytes, glial and Purkinje cells. This animal model is suitable for use in studies investigating the lysosomal storage disorder mucopolysaccharidosis type I (MPS I). | ||
| 005878 | NOD.129(Cg)-Cd44tm1Hbg/J | Cryopreserved - Ready for recovery |
| Mice that are homozygous for the targeted mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. No gene product (mRNA or protein) is detected. Although lymphocyte development appears unremarkable, irregularities are observed in lymphocyte trafficking. Tail-injected lymphocytes derived from null animals exhibit an impaired ability to traffic to peripheral lymph nodes, and to a much greater degree, the thymus. Transcription and translation of the targeted allele subsequently lead to the synthesis of the lacZ protein under control of the 5' regulatory elements of the endogenous locus in all cells and tissues normally expressing one or several of the CD44 isoforms. In an attempt to offer alleles on well-characterized or multiple genetic backgrounds, alleles are frequently moved to a genetic background different from that on which an allele was first characterized. It should be noted that the phenotype could vary f ..... | ||
| 016897 | NOD.129S7(B6)-Itgb2tm2Bay/CgkJ | Cryopreserved - Ready for recovery |
| Commonly called NOD.CD18, mice homozygous for the Itgb2tm2Bay targeted mutation are viable and fertile. Homozygous females are poor breeders, often producing 1 litter prior to becoming non-productive. Examination, of uterine horns, indicates poor healing post partum (unpublished communication). Unlike C57BL/6 mutant (Stock No. 003329) mice, congenic NOD Itgb2 mutant mice do not develop dermatitis or facial submandibular erosions. Similar to the C57BL/6 mutant, the congenic NOD Itgb2 mutant displays splenomegaly and lymphadenopathy. Splenic cells of NOD mutant mice exhibit significantly increased levels of CD29 and significantly decreased levels of Cd62L and the absence of CD11a and CD18. NOD mutant mice are resistant to diabetes to 34 weeks of age. Histological evaluation of the pancreas, at 18 weeks of age, reveals no insulitis. This strain may be useful for in vivo analysis of leukocyte integrin-dependent adhesion in inflammatory d ..... For more information please see the full phenotype on the strain data sheet | ||
| 006775 | NOD.Cg-Foxp3sf/DoiJ | Cryopreserved - Ready for recovery |
| Scurfy mice develop an X-linked lymphoproliferative disease resulting from defective T cell tolerance. By 3 weeks of age, Foxp3-deficient NOD mice suffer massive lymphoproliferation and inflammatory infiltration in lungs, liver, skin, pancreas, kidneys, stomach, colon, fat and muscles and die by three weeks of age. At 14 days of age, NOD.Foxp3-deficient mice developed exocrine pancreatitis and occasional peri-insulitis; however invasive insulitis and diabetes were not observed. In a NOD.Foxp3-deficient, BDC2.5 TCR transgenic model, mice experienced markedly decreased lymphoproliferation, yet 100% were diabetic by 20 days of age. This congenic NOD scurfy model is useful to study the role of Foxp3-dependent regulatory T cells on diabetes development. | ||
| 005053 | NOD.Cg-Prkdcscid Gusbmps/SndsJ | Cryopreserved - Ready for recovery |
| Mice homozygous for the mps allele exhibit skeletal dysplasia as well as cognitive, hearing and visual deficits. Lifespan of the homozygotes is approximately six months. Homozygotes lack the lysomal enzyme, beta-glucoronidase, and, as a result, glycosaminoglycans accumulate in tissues throughout the body. This strain is a model for the human lysomal storage disease, mucopolysaccharidosis type VII. On the NOD-Prkdcscid background, this strain can be used for xenotransplantation experiments and cell trafficking studies (Hofling et al., 2003). | ||
| 006154 | NOD.Cg-Tg(Ins2-Cxcl13)1Cys/JbsJ | Cryopreserved - Ready for recovery |
| Ins2-Cxcl13 (commonly referred to as BLC) transgenic mice are viable, fertile, normal in size, and do not display any gross physical or behavioral abnormalities. On the B6.D2 background pancreatic islet structure is disrupted, strongly resembling severe insulitis. However, these mice have normal blood glucose levels, no decrease in B-cells and do not become overtly diabetic. Immunohistochemistry indicates Cxcl13 expression is significantly higher in the pancreatic islets than the follicular stromal cells of the lymph nodes while no expression was observed in the liver or kidney. Histopathology indicates 50% of the pancreatic islets are infiltrated with small nucleated cells. Immunohistochemistry and FACS analysis reveals that 90% of the infiltrating cells are B220+ naïve B lymphcytes. In addition, CD4+ and CD8+ cells were present. Transgenic expression leads to the development of lymph node like structures that contain B and T cell zones, high endoth ..... For more information please see the full phenotype on the strain data sheet | ||
| 001504 | NOR2/LtDn-Vsx2or-2J/J | Cryopreserved - Ready for recovery |
| 000993 | NZB/BlNJ-KitW-59J/J | Cryopreserved - Ready for recovery |
| 000267 | ROP/GnLeJ | Cryopreserved - Ready for recovery |
| The Sox18Ra and Sox18Ra-J alleles cause a less severe phenotype than the Sox18Ra-Op allele. The Sox18Ra and Sox18Ra-J alleles are similar mutations and give a very similar phenotype. The Sox18Ra allele has been more broadly described in the literature and will be covered here. Heterozygotes are viable and fertile. Heterozygotes have developmentally retarded sinus hair growth apparent at embryonic day 16.5 and retarded development of pelage follicles apparent by embryonic day 17.5. Thus, heterozygotes have slightly shorter vibrissae evident at birth, and can be distinguished at three days of age by their pink skin which, due to the abnormally sparse development of the coat, fails to darken like that of wildtype siblings. A paucity of fur is apparent by nine days of age and persists throughout life. Compared with the wild type pelage, Sox18Ra/+ coats have l ..... For more information please see the full phenotype on the strain data sheet | ||
| 002503 | ROP/Le-Os Ces1ca/+ Ces1ca/J | Cryopreserved - Ready for recovery |
| This strain originally was maintained segregating for Os and Ces1c, which are approximately 3 cM apart on Chr 8, such that Os and Ces1cb occurred in coupling opposite the wild-type Os allele and Ces1ca. In October 2002, it was discovered that a recombination event between Os and Ces1c had resulted in the strain's becoming fixed for Ces1ca. | ||
| 000268 | RSV/LeJ | Cryopreserved - Ready for recovery |
| Mice heterozygous for the varitint-waddler spontaneous mutation (Mcoln3Va) are deaf and show circling behavior, head-tossing, and hyperactivity. Heterozygotes circle somewhat less than some of the other circling mutants. Their coats are variegated with patches of normal-colored, diluted, and white fur. Homozygotes show more intense behavioral abnormalities than heterozygotes, and their coats are white, except for small patches of unaltered color near the ears and base of the tail. The pathological changes in heterozygotes include degeneration of the organ of Corti, stria vascularis, spiral ganglion, saccular macula, cristae ampullares, and vestibular ganglion. In homozygotes the degenerative changes are more severe and also include the utricular macula. Viability of heterozygotes is nearly normal, but fertility is reduced. Mortality is very high in homozygotes, and very few of the survivors are fertile. Compound heterozygotes for the two alleles (Mcoln3Va-J> ..... For more information please see the full phenotype on the strain data sheet | ||
| 010968 | SB;C3Sn-Lrp4mdig-2J/GrsrJ | Cryopreserved - Ready for recovery |
| Mice homozygous for the Lrp4mdig-2J mutation have toes missing from each foot, have a coarse tail, and some, but not all, have one or two extra upper incisors. | ||
| 000270 | SEC/1GnLeJ | Cryopreserved - Ready for recovery |
| 000271 | SH1/LeJ | Cryopreserved - Ready for recovery |
| Mice homozygous for the shaker 1 spontaneous mutation (Myo7ash1) show circling, head-tossing, deafness, and hyperactivity characteristic of this type of mutant mice. Viability is normal, and breeding ability is high for a circling mutant. Homozygous mutant mice are most often deaf and swim well on the surface of water up to 4 weeks of age and more but lose the ability later. The degenerative changes of the labyrinth may occur a little later than in some of the other waltzing mutants. By light microscopy, the changes are seen to consist of degeneration of the organ of Corti, the spiral ganglion, and the stria vascularis in the cochlea, and of the saccular macula and the vestibular ganglion in the vestibular labyrinth. | ||
| 001045 | SI/Col Tyrp1b Dnahc11iv/J | Cryopreserved - Ready for recovery |
| DNAHC11 is important for developmental control of organ positioning in the left-right axis such that homozygosity for the situs inversus viscerum (iv) mutant allele can result not only in inverse placement of the visceral and thoracic organs, but also in anomalous positioning and interactions of blood vessels (including the hepatic portal, inferior vena cava, and azygos vein) and modified shape of organs and blood vessels, including abnormal lobation of lungs or liver. Approximately 50% of mice homozygous for Dnahc11iv have situs inversus, and the likelihood of situs inversus is not impacted by whether the homozygous parent has situs inversus. This indicates that wild type Dnahc11 instructs left-right asymmetry, and in the absence of functional Dnahc11 the direction of this asymmetry is random. Heterotaxia is found in less than half of homozygotes and occurs equally in those that do and do not have situs inversus. W ..... For more information please see the full phenotype on the strain data sheet | ||
| 000264 | SM/Ckc-Fbxw4Dac/J | Cryopreserved - Ready for recovery |
| 000308 | SSL/LeJ | Cryopreserved - Ready for recovery |
| This inbred strain carries both the piebald (Ednrbs) and piebald lethal (Ednrbs-l) alleles. Homozygous piebald mice show irregular white spotting, the amount of which is greatly influenced by minor modifying genes. They also have dark eyes. Homozygous piebald lethal mice are almost completely white with dark eyes and only an occasional small pigmented spot on the head or rump. Piebald-piebald lethal heterozygotes (Ednrbs/Ednrbs-l) mice resemble piebald mice in the degree of spotting. The piebald mutations disrupt the development of melanocytes derived from the neural crest. All piebald lethal homozygotes develop megacolon with a lack of enteric ganglion cells in the posterior end of the colon. On the SSL/Le background, although many Ednrbs-l homozygotes die between 2 and 4 weeks of age, significant numbers survive and may breed. The incidence of megacolon is reduced in piebald and piebald-piebald lethal ..... For more information please see the full phenotype on the strain data sheet | ||
| 001427 | STOCK Aw us/J | Cryopreserved - Ready for recovery |
| 010522 | STOCK Acancmd/NKruJ | Cryopreserved - Ready for recovery |
| Mice that are homozygous for this spontaneous mutation die just after birth from an in ability to breathe. Newborns exhibit cleft palate, a protruding tongue, bulging abdomen, enlarged liver and a shortened trunk, limbs, snout and tail. Long bones measure half the length of wild-type mice and the spinal column is reduced by 25%. Cartilage in homozygous mice consists of densely packed chrondocytes, little matrix, pycnotic cells and unusual amounts of collagen fibers. Mice that are heterozygous for the mutation appear normal at birth, but develop proportional dwarfism by 28 days. Aging mice exhibit spinal misalignment and degeneration followed by the sudden onset of a spastic gait and an accompanying decrease in movement. Mice die within one month following the appearance of the abnormal gait. Heterozygotes do not live beyond 19 months. This mutant mouse strain may be useful in studies of achondroplasia, disc herniation and spinal degeneration. | ||
| 002493 | STOCK Adatm1Mw/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the Adatm1Mw targeted mutation die perinatally. They show defects in purine metabolism and have liver cell degeneration. Death is most likely the result of accumulation of ADA precursors. Mice from the double mutant strain FVB;129- Adatm1Mw-TgN(PLADA)4118Rkmb/J (Stock No. 003265) are rescued from embryonic lethality by transgenic ADA expression in the placenta. Rescued mice that are homozygous for the null Ada allele exhibit a severe combined immunodeficiency. In addition, mice develop a severe lung eosinopilia reminescent of that seen in humans with asthma. Abnormalities were also found in the bone and kidney. ADA deficient mice die from severe respiratory distress by three weeks of age. Mice carrying a transgene overexpressiong ADA in both the placenta and forestomach, FVB;129- Adatm1Mw-TgN(PLFSADA)2465Rkmb/J (Stock No. For more information please see the full phenotype on the strain data sheet | ||
| 002130 | STOCK Agpsbs2/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the blind-sterile 2 mutation display nuclear cataracts, microphthalmia, smaller than normal lens with improper differentiation of lens epithelial cells to fiber cells with vacuolation, morganian globules, bladder cells and detachment of the apical-apical junctions of epithelial and fiber cells, although the lens epithelial cells appear normal at the anterior of the lens. Males have abnormally small testes with disrupted seminiferous tubules lacking mature spermatozoa or elongating spermatids. Although male homozygotes are sterile, female homozygotes are not. | ||
| 002979 | STOCK Apaf1fog/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the forebrain overgrowth recessive spontaneous mutation (fog) display forebrain, lumbo-sacral, and facial defects most likely due to excessive growth or cellular proliferation ultimately causing abnormalities in neural tube closure. The phenotypes manifest as head bumps and sacral spina bifida and individual mice can have either or both. Three unique features of the mutant are (1) the growth of telencephalon cells into the surrounding mesenchyme, (2) presence of an encephalocele through the midline cleft in some mutants, and (3) dissociation of the tail defect from the caudal neural tube defect. The fog mutation maps to mouse Chromosome 10 near D10Mit262 and D10Mit230. | ||
| 003899 | STOCK Cd44tm1Hbg/J | Cryopreserved - Ready for recovery |
| Mice that are homozygous for the targeted mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. No gene product (mRNA or protein) is detected. Although lymphocyte development appears unremarkable, irregularities are observed in lymphocyte trafficking. Tail-injected lymphocytes derived from null animals exhibit an impaired ability to traffic to peripheral lymph nodes, and to a much greater degree, the thymus. Transcription and translation of the targeted allele subsequently lead to the synthesis of the lacZ protein under control of the 5' regulatory elements of the endogenous locus in all cells and tissues normally expressing one or several of the CD44 isoforms. | ||
| 003179 | STOCK Cdh2tm1Hyn/J | Cryopreserved - Ready for recovery |
| Mice that are heterozygous for the mutant allele are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. However, homozygous mice have an embryonic lethal phenotype, and die by embryonic day 10. The somites of the mutant embryos are small, irregularly shaped, and less cohesive compared with those of their wild-type littermates, and the epithelial organization of the somites is partially disrupted. Undulation of the neural tube is also observed in the mutant embryos. The mesodermal and endodermal cell layers of the yolk sac are separated in the mutants. The most dramatic cell adhesion defect is observed in the primitive heart; although myocardial tissue forms initially, the myocytes subsequently dissociate and the heart tube fails to develop normally. | ||
| 008602 | STOCK Cdontm2Rsk/J | Cryopreserved - Ready for recovery |
| Homozygous CdonlacZ-2 (or CdolacZ-2) mice on a "129/Sv" genetic background are viable and fertile, harboring a beta-galactosidase (lacZ) "knock-in" mutation that also abolishes targeted gene expression. LacZ expression mimics the pattern observed for the endogenous gene. On a 129/Sv background, Cdo-deficient mice exhibit craniofacial midline defects identified as microforms of holoprosencephaly (HPE; a common defect of human forebrain development) with partial penetrance, grossly normal limb development and no perinatal lethality. These CdonlacZ-2 (or CdolacZ-2) mice are a genetic model of HPE and may be useful in studying craniofacial/brain development and the regulation of Sonic Hedgehog (Shh) signaling pathways, as well as for lacZ expression in Cdo-expressing tissues.
In an attempt to offer alleles on well-characterized or multiple genetic backgrounds, alleles are frequently moved to a genetic background dif ..... | ||
| 000306 | STOCK Dll3pu + Tyrc-ch/+ Oca2p Tyrc-ch/J | Cryopreserved - Ready for recovery |
| 007863 | STOCK Dnahc5hlb612/JClo | Cryopreserved - Ready for recovery |
| The ENU generated hlb612 allele contains an in-frame deletion in a dynein gene (Dnahc5) commonly associated with human primary ciliary dyskinesia (PCD). Thirty-six percent of homozygotes exhibit situs inversus totalis and hydrocephaly and die between 2-4 weeks of age. Forty percent of homozygotes die before or shortly after birth and exhibit heterotaxy with structural heart defects and cardiovascular anomalies including discordant atrioventricular and ventricular outflow situs, atrial/pulmonary isomerisms, artery alignment defects, interrupted inferior vena cava and dextrocardia. Electronmicroscopy reveals that the outer dynein arms of the respiratory cilia are greatly reduced in number. Respiratory cilia exhibit a wide variation in orientation. Cilia in the airway epithelia are immotile or slow and dsykinetic. Heterozygous mice do not have situs defects, however, respiratory cilia exhibit some reduction in the number of outer dynein arms.
This strain may be use ..... For more information please see the full phenotype on the strain data sheet | ||
| 004711 | STOCK Ednrbs-52Pub | Cryopreserved - Ready for recovery |
| 009063 | STOCK Ednrbtm1Nrd/J | Cryopreserved - Ready for recovery |
| Mice heterozygous for this Ednrbflex3 allele are viable and fertile, with a loxP-flanked neo cassette upstream of exon 3, as well as a loxP site downstream of exon 3 of the Ednrb (endothelin receptor type B or ET-B receptor) gene. When bred to mice that express Cre recombinase, the resulting offspring can have one of three resulting genotypes in the cre-expressing tissue(s); only the neo selection cassette deleted, only exon 3 deleted, or both the neo selection cassette and exon 3 deleted. The two latter genotypes are expected to result in a frameshifted transcript that is reported to confer the null phenotype. These mutant mice may be useful in generating conditional mutations for studying the role of Ednrb in development of melanocytes, development of neurons and glia of the enteric nervous system, neural crest-derived cells, mesenchymal-derived smooth muscle cells, vasodilation, mitogen signaling and cancer, and human Hirschsprung's dis ..... For more information please see the full phenotype on the strain data sheet | ||
| 002857 | STOCK Egfrtm1Mag/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the Egfrtm1Mag targeted mutation are recognizable at 2 to 3 days by curly whiskers. The first coat is waved but later coats are not; vibrissae usually remain curled and the guard hairs curved. Fertile mutant females have impaired lactation. | ||
| 002656 | STOCK En1tm1Alj/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the En1tm1Alj targeted mutation die shortly after birth. They are missing the third and fourth cranial nerves as well as most of the colliculi and cerebellum. The brain phenotype can be less severe depending on the genetic background. There is also a disruption of the dorsal/ventral patterning of the limb paws, a disrupted sterum, and truncation of the 13th ribs. Deletion of mid-hindbrain tissue may be seen as early as embryonic day 9.5. | ||
| 007916 | STOCK En1tm2(cre)Wrst/J | Cryopreserved - Ready for recovery |
| En1Cki (or En1Cre) mutant mice harbor a Cre recombinase (cre) "knock-in" allele that also abolishes endogenous gene function. While heterozygotes are viable and fertile, homozygous mice die at birth. Under control of the upstream promoter/enhancer elements, cre expression is observed in a pattern consistent with the wild-type gene. When heterozygotes are bred with mice containing a loxP-flanked sequence of interest, Cre-mediated recombination will result in deletion of the floxed sequences in En1-expressing tissues of the offspring. These En1Cki (or En1Cre) mice may be useful for Cre-lox applications studying engrailed protein function such as deleting genes in spinal cord V1 interneurons, the embryonic mesencephalon and rhombomere 1 by E9, as well as in the ventral ectoderm of the limbs, in a subset of somite cells, and some mesoderm-derived tissues.
Of note, these mice may also be useful in conjunction with o ..... | ||
| 007912 | STOCK En1tm2Alj/J | Cryopreserved - Ready for recovery |
| En-1lki (or En1lacZ) mutant mice harbor a β-galactosidase "knock-in" allele that also abolishes endogenous gene function. While heterozygotes are viable and fertile, homozygous mice die at birth (unless when maintained on a C57BL/6 genetic background). Under control of the upstream promoter/enhancer elements, lacZ expression is observed in a pattern almost identical to the wildtype gene. These En-1lacZ mice may be useful for reporter protein expression in En1-expressing tissues in studying engrailed protein function in limb patterning along the dorso-ventral axis, spinal cord V1 interneuron development, embryonic mesencephalon and rhombomere 1 (cerebellum) development, as well as developing somites, and skin. Of note, these mice may also be useful in conjunction with other engrailed mutants (such as Stock No. 007916, Stock No. For more information please see the full phenotype on the strain data sheet | ||
| 007917 | STOCK En1tm7(cre/ESR1)Alj/J | Cryopreserved - Ready for recovery |
| While mice heterozygous for this En1-CreERT1 mutation are viable and fertile, homozygotes die at birth. Because the Cre-ERT1 fusion gene is inserted between the transcriptional start site and the first exon of the engrailed 1 (En1) gene, tamoxifen-inducible cre activity is controlled by the endogenous En1 regulatory elements. The Cre-ERT1 fusion protein consists of Cre recombinase fused to a triple mutant form of the human estrogen receptor; which does not bind its natural ligand (17β-estradiol) at physiological concentrations but will bind the synthetic estrogen receptor ligands 4-hydroxytamoxifen (OHT) and, with lesser sensitivity, ICI 182780. Restricted to the cytoplasm, Cre-ERT1 can only gain access to the nuclear compartment after exposure to OHT. To counteract the mixed estrogen agonist effects of tamoxifen injections, which can result in late fetal abortions in pregnant mice, progesterone may be coadministered. When these En1-CreERT1 mice are bred with ..... For more information please see the full phenotype on the strain data sheet | ||
| 003820 | STOCK Fbn2fp-3J | Cryopreserved - Ready for recovery |
| Mice homozygous for the recessive fused phalanges 3 Jackson mutation (Fbn2fp-3J) have syndactyly of the second, third, and/or the fourth digits of the hindlimbs and sometimes also the frontlimbs (Munroe et al., 2000; Browning et al., 2001.) This syndactyly likely results from defective mesenchyme differentiation rather than failed interdigital apoptosis (Arteaga-Solis et al., 2001). | ||
| 007569 | STOCK Fgfr2tm1Dor/J | Cryopreserved - Ready for recovery |
| Mice homozygous for this Fgfr2flox allele possess loxP sites flanking exons 8-10 of the targeted gene and are viable and fertile. When these mutant mice are bred to mice that express Cre recombinase, resulting offspring will have sequences encoding the alternatively spliced Ig domain IIIb, as well as the IIIc and TM domains, deleted in the cre-expressing tissue(s). These Fgfr2-flox mutant mice may be useful in generating conditional mutations to study the role of fibroblast growth factor receptors in vertebrate development; including early embryogenesis, regional specification of the brain, limb morphogenesis, and normal bone, craniofacial, and lens development.
For example, when crossed to a strain expressing Cre recombinase in the central nervous system, especially astrocytes (see Stock No. 004600), this mutant mouse strain may be useful in studies of astroglial migration. When crossed to ..... | ||
| 001813 | STOCK Grhl3ct/J | Cryopreserved - Ready for recovery |
| 013124 | STOCK Gt(ROSA)26Sortm3(Gli3)Amc/J | Cryopreserved - Ready for recovery |
| These RosaGli3TFlag c/c mice contain a floxed-neomycin resistance (neo) cassette and polyadenylation signal, cDNA encoding a FLAG-tagged GLI-Kruppel family member (Gli3) repressor gene, an internal ribosome entry site (IRES), and a Venus yellow fluorescent protein (YFP) under control of the ubiquitous Gt(ROSA)26Sor locus. Breeding these mutant mice to mice that express Cre-recombinase will also result in Floxed-neo-stop excision. When these mice are crossed to mice containing Cre-recombinase under direction of a paired related homeobox 1 (Prrx1) promoter (see Stock No. 005584), active in early limb mesenchyme, the mice produce Gli3TFlag at levels that are comparable with the endogenous protein. Mice exhibited a variety of limb defects including a variable preaxial forelimb polydactyly, limb truncation, and reduced mineralization. These mice may be useful for understanding Sonic hedgehog signaling and iden ..... For more information please see the full phenotype on the strain data sheet | ||
| 013123 | STOCK Gt(ROSA)26Sortm6(Gli1)Amc/J | Cryopreserved - Ready for recovery |
| These RosaGli1Flag c/c mice contain a floxed-neomycin resistance (neo) cassette and polyadenylation signal, cDNA encoding a FLAG-tagged GLI-Kruppel family member (Gli1) gene, an internal ribosome entry site (IRES), and a Venus yellow fluorescent protein (YFP) under control of the ubiquitous Gt(ROSA)26Sor locus. Breeding these mutant mice to mice that express Cre-recombinase will also result in Floxed-neo-stop excision. When these mice are crossed to mice containing Cre-recombinase under direction of an atonal homolog 1 (Math1) promoter, active in dividing granule neuron precursor cells and medulloblastoma tumors, the mice produce Gli1Flag at levels higher than the endogenous protein in the cerebellum. These mice may be useful for understanding Sonic hedgehog signaling and identifying targets of Gli1 action in developing ventral neural tube. | ||
| 001743 | STOCK Gtg1dwg/J | Cryopreserved - Ready for recovery |
| Mice homozgyous for the dwarf grey spontaneous mutation (Gtg1dwg) are viable but do not breed. Homozygous mutant mice have grey coats, are smaller than littermates, and develop cataracts by 3-4 weeks of age. Additional characteristics include increased numbers of osteoclasts, reduced bone mass, reduced red pulp area of the spleen, and slightly reduced thyroxin levels. | ||
| 001880 | STOCK Gusbmps Tg(GUSB)4Sly/BirJ | Cryopreserved - Ready for recovery |
| 007749 | STOCK Hap1tm1Xjl/J | Cryopreserved - Ready for recovery |
| Mice homozygous for this Huntingtin Associated Protein (HAP1)-deficient allele have neurodegeneration in areas of the hypothalamus that control feeding behavior, resulting in decreased feeding behavior, dehydration, hypoactivity, and death between two and 15 days after birth. No protein expression from the targeted gene is observed in brain tissue from homozygous mice. Hypothalamus tissue from HAP1-deficient homozygotes exhibit reduced levels of gamma-aminobutyric acid-A (GABAA; a neurotransmitter associated with feeding) and tropomyosin-related kinase A receptor tyrosine kinase (TrkA; a nerve growth factor receptor associated with neurite outgrowth). Heterozygous mice are viable and fertile with no abnormalities in HAP1 expression levels, life span, behavior, and body weight. These huntingtin-associated protein-1 (HAP1) mutant mice may be useful in studying the hypothalamic neurodegeneration and loss of body weight in Huntingon's disease (HD), neurotransmitters, microtubule ..... For more information please see the full phenotype on the strain data sheet | ||
| 006241 | STOCK Hhiptm1Amc/J | Cryopreserved - Ready for recovery |
| Mice heterozygous for this targeted mutation are viable and fertile. Homozygotes die from respiratory failure shortly after birth. Expression of the "knocked-in" lacZ gene is detected in a pattern similar to the endogenous transcript (in lung, skeleton, stomach, duodenum, spleen, and pancreas), and serves as a faithful reporter for Hedgehog (Hh) signaling. Because Hh and fibroblast growth factor (Fgf) signaling are abnormal, homozygous mice have defects in many Hh target tissues. Although the primary lung buds form in homozygotes, lung branching morphogenesis is defect beginning at 10.5 days postcoitus (dpc), and fails to generate a complete respiratory tree. The single left lobe also is significantly reduced, and total lung size at birth is diminished 67-75% compared to wildtype. In addition, homozygous mice have delayed mineralization of the endochondral skeleton, as well as impaired pancreas morphogenesis, islet formation and endocrine cell proliferation. These mutant mice ma ..... For more information please see the full phenotype on the strain data sheet | ||
| 000006 | STOCK Hk Tyrc/J | Cryopreserved - Ready for recovery |
| While mice carrying the Hk mutation often have a hooked curl at the end of a shortened tail, this mutation may more consistently result in a displaced anus that is positioned posterior to the normal site and is more slit-shaped than circular. In some instances the anus has been located in the beginning of the tail and a depression was found to extend partway down the ventral side of the tail (Holman, 1951). The Hk mutation is semidominant with homozygotes often showing a shorter, more affected tail than heterozygotes (P.W. Lane Personal Communication). | ||
| 015824 | STOCK Hmx1dmbo/KjnJ | Cryopreserved - Ready for recovery |
| Mice homozygous for the dumbo mutation have low set, laterally protruding ears. They are smaller in overall body size than normal, with males weighing about half that of normal littermates at three days of age and lagging behind through nine days of age. Most have microphthalmia. This mutation causes perinatal lethality such that approximately 40% fewer homozygotes than predicted by standard Mendelian genetics are found at three weeks of age. Further assessment showed that most of the homozygous death occurs within the first three days of life and is strongly associated with exencephaly. This strain is a model for oculo-auricular syndrome. | ||
| 009667 | STOCK Isl2tm2Slp/J | Cryopreserved - Ready for recovery |
| Homozygous mutant mice are born with no overt morphological defects but display severe abdominal distension and nearly all die within 24 hours of birth. Several defects in motor neuron differentiation are observed at thoracic levels of the spinal cord. Many HB9+ (MNX1+) motor neurons are found in ectopic locations, either in intermediate areas of the spinal cord or within the ventral roots. In addition, the tight columnar organization of median motor column (MMC) neurons evident at thoracic levels of wild-type embryos are disrupted in mutants, with an intermingling of neurons in the medial and lateral divisions of the MMC, defined by their LHX3 (medial MMC motor neuron)/HB9 (ectopic motor neuron) expression status.
Homozygous embryos lack ISL2 protein expression. At E9.5, ISL1 expression is indistinguishable in mutant and wild-type embryos, but by E10.5 ISL1 expression is absent from a small group of medially positioned motor neurons in Isl2 mutan ..... | ||
| 003096 | STOCK Itgb1tm1Lscd/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the Itgb1tmlLscd targeted mutation die during early postimplantation development. Beta1-null embryos form normal-looking blastocysts and initiate implantation at E4.5. By E5.5, Beta1-null embryos degenerate extensively. The inner cell mass region of blastocyst outgrowths show highly retarded growth and defective extra-embryonic endoderm morphogenesis and migration. | ||
| 000239 | STOCK Jag2sm/J | Cryopreserved - Ready for recovery |
| 010744 | STOCK Kcna2tm1Tem/J | Cryopreserved - Ready for recovery |
| Homozygous mice appear normal at birth, however, by day 15 mice are smaller and exhibit explosive running and bouncing seizures sometimes followed by tonic extension accompanied by a shortness of breath (apnea). These seizures occur at a rate of less than one per day and have a 50% fatality rate. Mean lifespan is approximately 17 days on both the mixed C57BL/6-129S7 background and the C3H background. In homozygous mice, auditory neurons of the medial nucleus of the trapezoid body (MNTB) exhibit a decrease in action potential firing (hypoexcitable) and higher threshold current amplitude than wild-type mice. MNTB neurons in heterozygous mice exhibit an intermediate phenotype. The counter-intuitive decrease in activity with the deletion of Kv1.2 subunits occurs because replacement subunits (most likely Kv1.1) are lower-threshold than Kv1.2. This mutant mouse strain may be useful in studies of voltage dependent potassium channels and epilepsy.
In an attempt to offer alleles on w ..... | ||
| 000979 | STOCK KitlSl-16J/J | Cryopreserved - Ready for recovery |
| The steel mutations cause deficiencies in pigment cells, germ cells, and blood cells paralleling those caused by the Kit locus mutations. Most steel homozygous mice are severely anemic in utero and die usually at 15 to 16 days of gestation. However, compounds of two MgfSl mutants (e.g. MgfSl/MgfSl-d) are viable, black-eyed white, are usually sterile in one or both sexes, and have severe macrocytic anemia. Heterozygous mice have a diluted coat color with a small amount of white spotting, are viable and fertile, and may have a slight macrocytic anemia. Primordial germ cells are absent in the nonviable MgfSl/ MgfSl homozygotes and deficient in the MgfSl/+ heterozygotes. Mast cells are virtually absent in skin and other tissues of steel mutant mice. Tumors tend to develop in germ-cell-deficient ovaries with advancing age. | ||
| 002906 | STOCK Mecomtm1Mmor/J | Cryopreserved - Ready for recovery |
| Heterozygous (Evi1+/-) mutant embryos die at E10.5 due to widespread hypocellularity, hemorrhaging, and disruption in the development of paraxial mesenchyme. In addition, defects in the heart, somites, and cranial ganglia were detected and the peripheral nervous system fails to develop. | ||
| 010979 | STOCK Mfngtm1Seco/J | Cryopreserved - Ready for recovery |
| These Mfng-/- mutant mice have 898 nt surrounding the first Manic fringe (Mfng) coding exon replaced with a floxed PGK neo cassette, abolishing gene function. Mice that are homozygous for this allele are viable, fertile, with normal pancreatic development, morphology and physiology. There is no phenotypic difference observed between mutant mice and their wildtype littermates, suggesting a compensatory pathway may be operational in the embryonic development of this strain. These mice may be useful for studying embryonic development, and skeletal, limb, and hindbrain functions. | ||
| 008459 | STOCK Mirc1tm1.2Tyj/J | Cryopreserved - Ready for recovery |
| The miR-17~92 (Mir17, Mir18, Mir19a, Mir20a, Mir19b-1, Mir92-1) cluster, overexpressed in human cancers, is deleted in this targeted mutant strain. Heterozygous mice are viable and fertile. Mice homozygous for this null allele (miR-17~92delta) die perinatally, displaying cardiac defects and hypoplastic lungs. In fetal liver reconstitution experiments, a defect in B-cell development (partial block at the pro-B to pre-B transition) is observed. This strain may be useful in studying the link between the region's oncogenic properties and its functions during B cell lymphopoiesis and lung development. | ||
| 001253 | STOCK MitfMi-wh +/+ Wnt7apx/J | Cryopreserved - Ready for recovery |
| Mutations at the Mitf locus affect eye size, pigmentation, and the capacity for secondary bone resorption. MIce homozygous for the white allele (MitfMi-wh) display an overall absence of pigment cells with the exception of the retina which expresses a few giving the eye a small amount of pigment. Homozygotes show slight microphthalmia but a normal skeleton. Heterozygotes (MitfMi-wh/+) have a diluted coat color, light ears, a white belly spot, and in rare cases a dorsal spot. In addition, they display abnormalitites of both the cochlear and vestibular portions of the inner ear. Mice homozygous for the postaxial hemimelia spontaneous mutation (Wnt7apx) have skeletal defects of the forelimbs. Digits 5, 4, and sometimes 3, are missing and there is a reduction or absence of the ulna. There is always a large oval foramen in the scapula. The hindlimbs are usually unaffected, but digit 5 may be absent, and occasionally the fibula is r ..... For more information please see the full phenotype on the strain data sheet | ||
| 004192 | STOCK Mttptm2Sgy Ldlrtm1Her Apobtm2Sgy Tg(Mx1-cre)1Cgn/J | Cryopreserved - Ready for recovery |
| These mice are homozygous for four different induced mutations. The cumulative result of these mutations is a mouse model in which hypercholesterolemia can be reversed. By themselves, the combined presence of the Ldlrtm1Sgy and Apobtm1Sgy targeted alleles results in mice with a high susceptibility to atherosclerosis and total plasma cholesterol levels of approximately 300 mg/dl. A functional microsomal triglyceride transfer protein gene (Mttp) is essential for establishing a hypercholesterolemic condition. By flanking the Mttp gene with loxP sites and including a Mx1-Cre transgene, it is possible to reduce total plasma cholesterol levels from 300 mg/dl to 30 mg/dl upon induction of the Cre recombinase by administering interferon alpha, interferon beta, or synthetic double-stranded RNA. This unique model is useful in research related to the mechanisms and events of atherosclerotic reversal. Mice homozygous for the targeted ..... For more information please see the full phenotype on the strain data sheet | ||
| 000390 | STOCK Myo5ad Ds/J | Cryopreserved - Ready for recovery |
| 006578 | STOCK Myoz2tm1Eno/J | Cryopreserved - Ready for recovery |
| Mice homozygous for this calsarcin-1 mutant allele are viable and fertile. Immunoblot of homozygous cardiac tissue shows no endogenous protein expression. Strong lacZ expression throughout all cardiac chambers mirrors the expression pattern of the endogenous gene, and marked skeletal muscles known to contain a high proportion of type I (slow) fibers. Homozygotes have skeletal muscle abnormalities in type I (slow) fibers and calcineurin activity. Echocardiography of homozygous mice reveals abnormal heart performance. Absence of gene function activates a cardiac hypertrophic fetal gene program (despite the absence of hypertrophy) and enhanced the cardiac growth response to pressure overload. These mutant mice may be useful in studying growth and gene expression of cardiac and skeletal muscle, as well as the pathogenesis of human cardiomyopathies. In an attempt to offer alleles on well-characterized or multiple genetic backgrounds, alleles are frequently moved to a genetic bac ..... | ||
| 002445 | STOCK Notch1tm1Con/J | Cryopreserved - Ready for recovery |
| 006951 | STOCK Notch1tm2Rko/GridJ | Cryopreserved - Ready for recovery |
| Mice homozygous for this "floxed" Notch1 allele (fN1) are viable and fertile. In the targeted allele, loxP sites were placed flanking exon 1 of the targeted gene. When these floxed mice are bred to mice expressing Cre recombinase, exon 1 of the targeted gene is deleted in cre-expressing tissue(s) in the cre-positive, homozygous floxed offspring. These conditional knockout mice may be useful in generating tissue-specific mutants for studying the development of a wide range of tissues: for example, when crossed to a strain expressing Cre recombinase primarily in the nervous system (see Stock No. 003771), this mutant strain may be useful in studies of apoptosis in neural development.
When crossed to a strain expressing a differential Cre mediated reporter protein labeling: Notch1 signaling in actively cycling stem/progenitor cells (see Stock No. 006953 ..... | ||
| 006953 | STOCK Notch1tm3(cre)Rko/J | Cryopreserved - Ready for recovery |
| While homozygotes die at embryonic day 9.5 (E9.5), mice heterozygous for this N1::cre allele are viable and fertile. Mutant mice express a Notch1-Cre fusion protein formed by the insertion of Cre recombinase into the Notch1 locus replacing the intracellular domain (NICD1). As such, endogenous function of the NICD1 is terminated. Interaction of N1::cre fusion receptors in vivo with Notch-DSL (-Delta, Serrate and Lag-2) ligands results in proteolytic cleavage of the transmembrane domain tether and subsequent release of Cre recombinase protein from the plasma membrane. When bred to mice with a loxP-flanked reporter sequence, cell descendants have differential Cre-mediated reporter protein labeling; Notch1 signaling in actively cycling stem/progenitor cells will mark all their descendants producing a "clone", whereas Notch1 activation in transit amplifying or differentiating cells will result in small clones (2-4 cells) or in salt-and-pepper patterns of individually la ..... For more information please see the full phenotype on the strain data sheet | ||
| 000020 | STOCK Nototc/J | Cryopreserved - Ready for recovery |
| 005692 | STOCK Nphs1tm1Rkl/J | Cryopreserved - Ready for recovery |
| Mice that are heterozygous for the Nephrin KO/GFP knock-in mutation are viable and fertile. Homozygous mice die within a few days after birth with massive glomerular vascular leak and an absence of glomerular epithelial slit diaphragms. No gene product is detected by Western blot of kidney tissue of homozygotes. Green fluorescent protein (GFP) is detected in glomeruli of homozygotes and heterozygotes. Newborn homozygotes show extensive proteinuria, while heterozygotes show none. These Nephrin KO/GFP knock-in mice may be useful in studying nephrotic syndrome or any of the diseases where plasma ultrafiltration is affected. | ||
| 000294 | STOCK Npr2cn/J | Cryopreserved - Ready for recovery |
| 007658 | STOCK Npr2tm1Gar/J | Cryopreserved - Ready for recovery |
| Homozygous females are not fertile due to the failure of their reproductive tract development. Homozygous males are also infertile; although spermatogenesis and accessory structures appear unaffected, abnormalities in the neuronal control of penile erection have been found. Null mice are notably smaller than their wildtype and heterozygous littermates several days after birth. Heterozygous mice show a slight reduction in naso-anal length. A dramatic impairment of endochondral ossification and an attenuation of longitudinal vertebra or limb-bone growth are also seen in null animals. They show self-clasping and priapism, suggesting neuronal disorders, but no histological abnormalities are seen in the brain or spinal cord. Survival is reduced. Lethal tonic-clonic seizure attacks have been observed. mRNA is not detected in the brain, growth-plate cartilage, or primary cultures of dermal fibroblasts as determined by Northern blot analysis. This strain may be useful in studies of bo ..... For more information please see the full phenotype on the strain data sheet | ||
| 002812 | STOCK Npr3stri/PasEiJ | Cryopreserved - Ready for recovery |
| Mice homozygous for the strigosus mutation are identifiable as early as six days of age by their elongated bodies and digits and a conical extension of the body at the base of the tail. Older mice are extremely thin and exhibit arachnodactyly, thoracic kyphosis, and, often, kinks in the tail. The strigosus mutation is milder than the longjohn alleles, which become humbacked at a younger age and have sacral kinks. Upon necropsy, homozygotes are found to lack normal body fat deposits. Skeletal analysis demonstrated delayed endochondral ossification, most obvious in the hind- and forepaws but affecting the entire skeleton. At embryonic day 10.5 all truncal vertebrae are present but enlarged. | ||
| 002276 | STOCK Ntf3tm1Jae/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the Ntf3tm1Jae targeted mutation are smaller than their normal littermates and most die shortly after birth. Survivors die prior to weaning. They display limb ataxia, an inability to position the limbs properly when attempting to move, and there is a tendency for all four limbs to intermittently stiffen in an extensor posture. Autopsy showed all peripheral ganglia markedly smaller in the mutant. Spinal proprioceptive afferents and their peripheral sense organs are completely absent. Heterozygous mice appear normal; however, the number of muscle spindles in heterozygotes is half that of normal wildtype siblings. There is approximately a 50% reduction in the sympathetic superior cervical ganglion (SCG) neurons caused by excessive apoptosis of sympathetic neuroblasts during neurogenesis. | ||
| 006702 | STOCK Ntstm1Mom/MomJ | Cryopreserved - Ready for recovery |
| Through bicistronic expression of enhanced green fluorescing protein and neurotensin, this strain permits the visualization of the mitral and tufted cells of the main olfactory bulb thereby permitting developmental analysis in the lateral olfactory tract. | ||
| 001747 | STOCK Oca2p-d/Oca2p-cp/J | Cryopreserved - Ready for recovery |
| Mice homozygous for Oca2p-d (dark pink-eye) are born with lightly pigmented eyes, darker than those of Oca2p/Oca2p mice, which darken by weaning and a coat color "considerably darker than that of Oca2p/Oca2p mice, somewhat resembling that of brown [Tyrp1b/Tyrp1b] mice"; both sexes are fertile (Gardner et al. 1977, Lyon et al. 1992). A normal-sized Oca2p transcript is present in eyes of Oca2p-d/Oca2p-d mice (Gardner et al. 1992), and Southern blot analysis revealed no gross alteration of the Oca2p gene (Gardner et al. 1992, Lyon et al. 1992); thus, the molecular nature of the defect is unknown. Most Oca2p-cp (p-cleft palate, formerly p11H) homozygotes die soon after birth with cleft palate; the few that survive to adulthood exhibit significant dilution of coat co ..... For more information please see the full phenotype on the strain data sheet | ||
| 009061 | STOCK Osr1tm1(EGFP/cre/ERT2)Amc/J | Cryopreserved - Ready for recovery |
| Homozygous mice die upon birth with multiple abnormalities of the heart and urogenital system (among other tissues). Heterozygous mice are viable and fertile. The Osr1eGFPCreERt2 (Osr1GCE) "knock-in" allele both abolishes Osr1 gene function and expresses an eGFPCreERt2 fusion protein (EGFP and creERT2 fusion protein from the Osr1 promoter/enhancer elements). While EGFP immunofluorescence is observed in intermediate mesoderm and dorsal lateral plate mesoderm of developing embryos (~E8.5), Cre-ERT2 fusion gene activity is inducible; observed in the same cells only following tamoxifen administration. As such, when Osr1GCE mice are bred with mice containing loxP-flanked sequence of interest, tamoxifen-inducible, Cre-mediated recombination will result in deletion of the floxed sequences in the Osr1-expressing cells of the offspring. Of note, removal of the frt-flanked neo cassette is reported to result in ectopic Cre recomb ..... For more information please see the full phenotype on the strain data sheet | ||
| 002902 | STOCK Pax3Sp Mlphln/J | Cryopreserved - Ready for recovery |
| 006085 | STOCK Rad9tm1Lieb/J | Cryopreserved - Ready for recovery |
| Mice that are heterozygous for the targeted mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. Mouse embryo fibroblasts (MEFs) cannot be derived from homozygous embryos. Homozygous null mice have an embryonic lethal phenotype, failing to develop somewhere between embryonic days 9.5 and 12.5. Homozygous mutant embryonic day 8.5 and 9.5 embryos exhibit increased apoptosis and reduced cellular proliferation. This mutant mouse strain may be useful in studies of development, DNA damage and repair, and genomic stability. | ||
| 006083 | STOCK Sfpi1tm1.3Dgt/J | Cryopreserved - Ready for recovery |
| Mice homozygous for this targeted deletion are viable and fertile as young animals. Mice on this stock (predominantly 129Sv) background often die between 3-8 months of age of a rapidly developing T cell lymphoma (64% penetrance) or between 6-12 months of acute myeloid lymphoma (AML) (29% penetrance). Homozygotes (termed PU.1 knockdown or UREdelta) have an 80% reduction of endogneous gene expression. This is associated with an accumulation of hematopoietic stem cell precursor cells and neutrophils in bone marrow and spleen. Bone marrow cells from homozygous mice have abnormal responses to myeloid cytokines, and malignant transformation is associated with clonal chromosomal abnormalities. Homozygous mice have abnormal B- and T-cell populations and lineage commitment. These mice may be useful in studing T cell lymphoma, AML and other cancers, transcription factors, and development of multiple cell lineages. Of note, the latency and penetrance of disease is slightly different from those ..... | ||
| 003318 | STOCK Shhtm1Amc/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the Shhtm1Amc targeted mutation display early defects in the establishment and maintenance of midline structures. These defects result from the critical role the Sonic hedgehog (Shh) gene plays in the patterning patterning of vertebrate embryonic tissues, including the brain and spinal cord, the axial skeleton and the limbs. Defects are also observed in all tissues, confirming the proposed role of SHH proteins as an extracellular signal required for the tissue-organizing properties of several vertebrate patterning centers.
When bred to a strain with loxP sites inserted into the same targeted allele (Stock No. 004293) and a strain expressing Cre recombinase in the skin and dental epithelium (Stock No. 004782), this mutant mouse strain may be useful in studies of hedgehog signalling and cell proliferation in the dental e ..... | ||
| 008203 | STOCK Smn1tm1Msd Tg(ACTA1-SMN)63Ahmb Tg(SMN2)89Ahmb/J | Cryopreserved - Ready for recovery |
| As described for SMA mice (see Stock No. 005024), mice homozygous for Smn1tm1Msd targeted mutation (Smn null allele) and human SMN2 low copy line 89 transgene exhibit symptoms, neuropathology, and early lethality similar to human type I proximal spinal muscular atrophy (SMA) patients. As an addition to that SMA model, this strain also carries the HSA-SMN transgene; with the human alpha-skeletal actin (HSA or ACTA1) promoter directing full-length human SMN expression at high levels in skeletal muscle. When the HSA-SMN transgene is derived from HSA69-SMN founder mice, skeletal muscle-specific SMN expression is preserved, and homozygous SMN2; Smn; HSA69-SMN mutant animals (Stock No. 008209) have the same phenotype as homozygous SMA mice. In contrast, expression of the HSA-SMN transgene derived from HSA63-SMN founder mice is leaky; with hi ..... For more information please see the full phenotype on the strain data sheet | ||
| 006473 | STOCK Smyd1tm1Dsr/J | Cryopreserved - Ready for recovery |
| Mice heterozygous for this targeted mutation are viable and fertile. Mice homozygous for this targeted allele, however, die between embryonic day (E) 9.5 and 10.5 due to cardiomyocyte maturation defects, including an enlarged heart, single left-side ventricular chamber with tremendous extra cellular matrix expansion between the myocardial and endocardial layers, and defective Hand2 expression. No mRNA transcripts from the targeted mutant gene are detected in cardiac tissue from E9.5 homozygotes. These mutant mice may be useful in studying cardiomyocyte differentiation and cardiac morphogenesis. In an attempt to offer alleles on well-characterized or multiple genetic backgrounds, alleles are frequently moved to a genetic background different from that on which an allele was first characterized. It should be noted that the phenotype could vary from that originally described. We will modify the strain description if necessary as published results become available. | ||
| 003119 | STOCK Sp4tm1Ssp/J | Cryopreserved - Ready for recovery |
| 001385 | STOCK Srebf2lop13/J | Cryopreserved - Ready for recovery |
| Lens opacity 13 is a recessive mutation that causes bilateral cataracts that do not affect the cortex of the lens. This presents at 3 to 4 weeks of age as a white area in the center of the lens. The size of the eyes is normal. (Varnum, 1981.) | ||
| 008417 | STOCK Stx1atm1.1Sud Stx1btm1.1Sud/J | Cryopreserved - Ready for recovery |
| These compound mutant mice carry targeted mutations of the Stx1a (syntaxin 1A (brain)) and Stx1b (syntaxin 1B) genes. Stx1a mutant (XRA) homozygous mice do not show any abnormality of their own, but in combination with the Stx1b hypomorph mutation (XTB) (see Stock No. 008138), XRA worsens the XRB phenotype. Double homozygous mice die prenatally, show a 40% reduction in syntaxin binding protein (Munc-18) levels and have small Purkinje cells in cerebellum. | ||
| 008138 | STOCK Stx1btm1Sud/J | Cryopreserved - Ready for recovery |
| Homozygous mice die roughly 14 days after birth (P14) for unknown reasons. They generally show some motor dysfunction and in coordination, perhaps due to defects in the cerebellum, an area in which this gene shows activity. When crossed with mice carrying a syntaxin 1A targeted mutation (Stock No. 008137), double homozygous mice die prenatally, show a 40% reduction in syntaxin binding protein (Munc-18) levels and have small Purkinje cells in cerebellum. | ||
| 001814 | STOCK Tc/J | Cryopreserved - Ready for recovery |
| 008779 | STOCK Thtm1Srt/J | Cryopreserved - Ready for recovery |
| Mice that are heterozygous for the targeted mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. A small amount of gene product (protein) is detected by Western blot analysis of heads of homozygotes embryonic day 14.5 in age. Homozygous mice have an embryonic lethal phenotype, begin to die at embryonic day 11.5 and fail to develop past embryonic day 14.5. Homozygous embryos exhibit abnormal heart development with dilated atria, thin atrial walls, ventricular hypoplasia and blood congestion, dying with symptoms of congestive heart failure. Catecholamine containing cells are not detected by glyoxylic acid-induced histofluorescence analysis of embryos. Administration of L-Dopa or +/- isoproterenol to pregnant heterozygous females rescues approximately 90% of the homozygous pups, which then survive up to 3 weeks after birth. Homozygous pups can also be rescued by exposuring the pregnant dam to high oxygen (33-60%). Norepinephrine, ..... For more information please see the full phenotype on the strain data sheet | ||
| 010828 | STOCK Tmpotm1.1Foi/J | Cryopreserved - Ready for recovery |
| Mice that are homozygous for the targeted mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. No LAP2α gene product (mRNA or protein) is detected by Northern or Western blot analysis of primary fibroblasts from neonates. Expression of other TMPO isoforms was not significantly affected. A-type lamin localization is abnormal with decreased lamin in the nucleoplasm. Primary fibroblasts isolated from homozygotes exhibit delayed contact-mediated cell cycle arrest and attain a 1.5 fold increased density before cell cycle arrest compared to wildtype. Homozygotes display thickened plantar paw epidermis due to a twofold increase in proliferating cells. Hematocrit levels are increased. Mutants have a fourfold increased number of erythroid progenitor cells in the spleen and a smaller increase in erythroid progenitor cells in bone marrow. Large intestine crypts are lengthened in mutant mice. The colon epithelium has 20% mor ..... For more information please see the full phenotype on the strain data sheet | ||
| 001829 | STOCK Tsv/J | Cryopreserved - Ready for recovery |
| 008469 | STOCK Wnt9btm1.2Amc/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the Wnt9bc allele are viable and fertile, with loxP sites flanking exon 2 of the targeted gene. When bred to mice that express Cre recombinase, the resulting offspring will have this region deleted in the cre-expressing tissue(s). Such deletion is predicted to result in out-of-frame splicing of exon 1 to exon 3, and consequently a mutant transcript that would encode a nonfunctional peptide comprising the first 27 amino acids of Wnt9b that includes the signal peptide. These Wnt9bc mice may be useful in generating conditional mutations for studying the role of Wnt9b (and other Wnt family members) in development and canonical Wnt signaling cascades, including metanephric kidney and urogenital system development. | ||
| 001433 | STOCK a skt/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the skt mutation are smaller than their wild-type siblings and have a kinky tail with only the caudal vertebrae affected. | ||
| 000579 | STOCK a tp/J | Cryopreserved - Ready for recovery |
| Taupe is a recessive spontaneous mutation that causes a lightening of the coat color such that a/a tp/tp mice are slate grey. The coat color is similar to that of the ruby (Hps5ru) mutation but the eye color is not affected and the belly fur is lighter in color with yellow at the margins. The homozygous females do not have normal nipple development, although the mammary ducts and alveoli develop normally. These females also have difficulty with pregnancy and birth. They can not rear their pups even if the pups are born alive so this strain is maintained by breeding heterozygous females to homozygous males. (Fielder, 1952; Fielder, 1950.) | ||
| 000319 | STOCK a us/J | Cryopreserved - Ready for recovery |
| 000317 | STOCK a/a Egfrwa2/J | Cryopreserved - Ready for recovery |
| Mice homozygous mice for the waved 2 spontaneous mutation (Egfrwa2) are recognizable at 2 to 3 days by curly whiskers. The first coat is waved but later coats are not; vibrissae usually remain curled and the guard hairs curved. Some homozygotes have eyelids open at birth. Fertile mutant females have impaired lactation. | ||
| 000206 | STOCK a/a Tyrc-h/J | Cryopreserved - Ready for recovery |
| 001432 | STOCK a/a Tyrp1b sks/Tyrp1b +/J | Cryopreserved - Ready for recovery |
| 003818 | STOCK bdd/J | Cryopreserved - Ready for recovery |
| At 3 weeks of age homozygotes are smaller than their unaffected littermates and have horseshoe shaped hips. A paralysis-like dragging of the hind limbs appears with age and by 1 year of age prolapsed discs are found in the spinal cord although no muscle loss or neurological damage is found in the legs. | ||
| 001985 | STOCK eyl2/J | Cryopreserved - Ready for recovery |
| 80% of mice homozygous for the eyeless 2 Jackson mutation were reported to have anophthalmia, and those with intact globes have microphthalmia and are often found to have congenital corneal perforations and collapse of the anterior chamber (Chang et al., 2005). | ||
| 000279 | STOCK gr +/+ Ap3d1mh/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the mocha spontaneous mutation (Ap3d1mh) have increased perinatal mortality. They are recognizable at birth by the absence of visible pigment in the eyes, which darken to deep red in adults. The hairs have considerably smaller and fewer melanin granules than normal. Behavior is abnormal, characterized by hyperactivity, tilted heads, and in some the inability to swim. All homozygotes show degenerative changes in the organ of Corti, stria vascularis, and spiral ganglion, and most show abnormalities of the otoliths in the saccule and utricle. This degeneration can be lessened by the administration of supplemental manganese or, to a lesser degree, zinc to the dam during pregnancy. Evoked auditory brainstem responses appear normal in young homozygotes, but decrease with age coincident with the cochlear degeneration with no response detected after six months of age. At three months of age, mice homozygous for the Ap3d1mh allele have si ..... For more information please see the full phenotype on the strain data sheet | ||
| 001642 | STOCK l1Rk5/J | Cryopreserved - Ready for recovery |
| 001643 | STOCK l1Rk6/J | Cryopreserved - Ready for recovery |
| 001984 | STOCK l1Rk9/J | Cryopreserved - Ready for recovery |
| 000312 | STOCK stb + a/+ Fignfi a/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the fidget spontaneous mutation (Fignfi) toss their heads from side to side and tend to run in circles. Homozygous fidgit mice are hypersensitive to sound in early life, but later lose hearing ability. Corneal lesions are common, and hind foot polydactylism occurs. The bony labyrinth is quite defective. Other abnormalities including small eyes, absence of lachrymal glands, dislocation of the hip, and displaced parafloccular lobes of the cerebellum. Viability of homozygotes is usually less than normal and fertility is poor. The STOCK is also carrying the stubby spontaneous mutation (stb). Homozygous stubby mice are recognizable at 4 or 5 days by a domed head and thick short tail. Adult stubby mice have shorter heads, bodies, and legs compared to wildtype mice. Most females are fertile but males do not breed. Male mice do produce normal numbers of motile sperm. Cartilage histology is within normal limits, but chondrogenesis stops earlier than ..... For more information please see the full phenotype on the strain data sheet | ||
| 001874 | STOCK tw82 tf/J | Cryopreserved - Ready for recovery |
| 000596 | STOCK T(2;11)30H/+ x AEJ-a Gdf5bp-H/J or A/J-a Gdf5bp-J/J | Cryopreserved - Ready for recovery |
| 000583 | STOCK T(X;16)16H +/+ EdaTa | Cryopreserved - Ready for recovery |
| 006882 | STOCK Tg(CAG-Bgeo,-AML1/ETO,-ALPP)1Lbe/J | Cryopreserved - Ready for recovery |
| Mice hemizygous for this "Z/AP-AML1-ETO" transgene (coding for the translocation t(8;21) present in 15% of acute myeloid leukemias (AML)) are viable and fertile. Homozygotes die in utero presumably due to high lacZ expression. Prior to cre-mediated excision of the "floxed" STOP sequence, expression of lacZ is observed in all tissues including bone marrow progenitor cells. When bred to Cre recombinase expressing mice, the STOP sequence (and beta-geo) is removed in the resulting offspring, allowing transcription/co-expression of both the human AML1-ETO fusion protein and placental alkaline phosphatase (ALPP or PLAP) to proceed in the Cre recombinase expressing cells. While pan expression of AML1-ETO leads to embryonic lethality (E7.5), hematopoietic and endothelial expression leads to malignancy in B- and T- lymphoid cells and secondary mutations that closely resemble the association of AML1-ETO with acute myeloid leukemia in humans. These transgenic mice may ..... For more information please see the full phenotype on the strain data sheet | ||
| 006850 | STOCK Tg(CAG-Bgeo,-NOTCH1,-EGFP)1Lbe/J | Cryopreserved - Ready for recovery |
| Mice hemizygous for this Cre-conditional IC-Notch (or Z/EG-Notch) transgene are viable and fertile. Homozygotes die in utero, presumably due to high lacZ expression. Prior to Cre-mediated excision of the "floxed" STOP sequence, high expression of lacZ is observed in cells and tissues. When bred to Cre recombinase expressing mice, the STOP sequence (and beta-geo) is removed in the resulting offspring, allowing transcription/co-expression of both the intracellular human NOTCH1 (IC-Notch) and EGFP to proceed in the Cre recombinase expressing cells. For example, endothelial expression of IC-Notch using different Cre-transgenic matings is associated with neural, somite and angiogenic defects, infertility in females, and embryonic lethality in the resulting offspring. These transgenic mice may be useful for global expression of lacZ or, when crossed to a Cre recombinase expressing strain, for studying the role of Notch signaling during both embryonic develo ..... For more information please see the full phenotype on the strain data sheet | ||
| 006876 | STOCK Tg(CAG-Bgeo,-TEL/AML1,-EGFP)A6Lbe/J | Cryopreserved - Ready for recovery |
| Mice hemizygous for this Cre-conditional TEL-AML1 (or iZ/EG-TEL-AML1) transgene are viable and fertile. Homozygotes die in utero, presumably due to high lacZ expression. Prior to Cre-mediated excision of the "floxed" STOP sequence, high expression of lacZ is observed in cells and tissues. When bred to Cre recombinase transgenic mice, the STOP sequence (and beta-geo) is removed in the resulting offspring, allowing transcription/co-expression of both the human TEL-AML1 fusion protein and EGFP in all cre-expressing cells. TEL-AML1 transcripts are not observed in adult organ tissues prior to excision of the floxed sequences. Following Cre-mediated deletion of the STOP sequence (by B6.Cg-Tg(Tek-cre)12Flv/J, Stock No. 004128), Western blot analysis reveals that EGFP levels are well correlated with TEL-AML1 transcript levels. While global expression of TEL-AML1 leads to embryonic lethality (E7.5), hematopoieti ..... For more information please see the full phenotype on the strain data sheet | ||
| 006613 | STOCK Tg(CAG-Bgeo,-Tle1,-ALPP)1Lbe/J | Cryopreserved - Ready for recovery |
| Hemizygous transgenic mice are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. These transgenic mice express the mouse transducin-like enhancer of split 1, homolog of Drosophila E(spl) gene, Tle1 (also known as Groucho-related gene 1; Grg1) under the regulation of the chicken beta actin promoter (ACTB) and the cytomegalovirus (CMV) intermediate-early enhancer. An internal ribosome entry sequence (IRES) followed by the human alkaline phosphatase (ALPP) reporter gene inserted downstream of the Tle1 gene directs co-expression of ALPP and TLE1. TLE1 and ALPP co-expression is blocked, however, by the presence of a loxP-flanked Bgeo (beta-galactosidase/neomycin resistance fusion protein) cassette inserted between the ACTB/CMV promoter and the Tle1 coding sequence. In the absence of Cre recombinase, beta-galactosidase activity is detected in all tissues tested including pancreas, lung, kidney, cerebellum, heart, m ..... For more information please see the full phenotype on the strain data sheet | ||
| 007657 | STOCK Tg(Col2a1-Npr2*B2)25-4Gar/J | Cryopreserved - Ready for recovery |
| Mice that carry this transgene are viable, fertile and significantly smaller than wildtype mice. At 10 days of age, expression of the transgenic “GC-B2” isoform is found in growth plate cartilage and cGMP levels of tail bones are decreased by 25%. Skeletal growth, as measured by naso-anal length, is slightly reduced as compared with wildtype mice. These mice may be used in studies of endochondral ossification and bone development. | ||
| 001788 | STOCK Tg(Fabp1-GH1)10Bir/J | Cryopreserved - Ready for recovery |
| 001400 | STOCK Tg(Fabp1-GH1)5Bir/J | Cryopreserved - Ready for recovery |
| 001515 | STOCK Tg(Fabp1-GH1)7Bir/J | Cryopreserved - Ready for recovery |
| 001878 | STOCK Tg(IFABP-GH)11Bir/J | Cryopreserved - Ready for recovery |
| 001879 | STOCK Tg(IFABP-GH)12Bir/J | Cryopreserved - Ready for recovery |
| 001909 | STOCK Tg(IFABP-GH)15Bir/J | Cryopreserved - Ready for recovery |
| Obligate hemizygous F1 offspring from founder 54 carried approximately 60 copies of the transgene in tandem head-to-tail arrangement in a single insertion site. Expression of the reporter gene, human growth hormone, is appropriately restricted to the intestine where the duodenum and proximal jejunum show expression levels normal for intestinal fatty acid binding protein, but the distal small intestine shows reduced expression. Resultant serum human growth hormone levels were 6-38 ng/ml which is approximately 1000 times lower than in mice carrying a transgene with an extended I-FABP promoter which includes nucleotides -1178 to +28. Use of the extended (-1178 to +28) promoter also results in a more normal expression in the distal small intestine. (Sweetser et al., 1988.) | ||
| 006207 | STOCK Tg(Pcp2-cre)1Amc/J | Cryopreserved - Ready for recovery |
| Hemizygous mice are viable, fertile, normal in size, and do not display any gross physical or behavioral abnormalities. Cre activity is observed in parasagittal domains of the cerebellum beginning at embryonic day 17 (E17). At E19, low level expression is observed in the most rostral lobe of cerebellum and expression broadens until all Purkinje cells express the transgene in adult mice. When bred with any mouse containing a loxP-flanked sequence of interest, Cre-mediated recombination will result in deletion of the flanked genome. These transgenic mice may be useful in studies utilizing "Cre-lox" technology, specifically regarding the nervous system, development and patterning of cerebellum, and cerebellar hypotrophy converse of Lhermitte-Duclos. Important Note: These mice also carry a GFP transgene that co-integrated with the Tg(Pcp2-cre)1Amc transgene. As such, GFP expression is reported in the cerebellum. | ||
| 005040 | STOCK Tg(Pfkl)224Yg/J-Dll3pu-J/GrsrJ | Cryopreserved - Ready for recovery |
| This recessive remutation to Dll3pu results in mice with shortened vertebral spines, splayed ribs, and kinked tails. Common clinical characteristics include compression of the cervical, thoracic and lumbar vertebrae plus extreme variability in size, shape, and irregular fusion of tail vertebrae. | ||
| 002023 | SWR.M-Emv21 Emv22/J | Cryopreserved - Ready for recovery |
| This strain carries a pair of linked retroviral insertions that occurred simultaneously on Chr 18 in a MEV substrain related to MEV/1Ty. Homozygosity for one of the insertions causes a juvenile lethal wasting condition that results in death at approximately 16 days of age. The proviruses rarely recombine; during development of this incipient congenic strain, a mouse was never found to have Emv21 in the absence of Emv22. There is no evidence that either of these viruses causes germline or somatic infection resulting in integration of new germline copies. (brs per personal communication from B. Taylor) | ||
| 000623 | TR/DiEiJ | Cryopreserved - Ready for recovery |
| 000275 | V/LeJ | Cryopreserved - Ready for recovery |
| This strain was originally used as a linkage stock for gene mapping. It is homozygous for several visible recessive mutations all located on different chromosomes including nonagouti (a), fuzzy (fz), leaden (Mlphln), and piebald (Ednrbs) and is segregating for the neurological mutation, waltzer (Cdh23v). Homozygous waltzer mice show the circling, head-tossing, deafness, and hyperactivity typical of the circling mutants. Abnormalities of the inner ear include degeneration of the organ of Corti, spiral ganglion, stria vascularis, and saccular macula. Homozygous piebald mice show irregular white spotting, the amount of which is greatly influenced by minor modifying genes. Homozygous piebald mice have dark eyes. The white areas of the coat are completely lacking in melanocytes and there is a reduction in the number of melanocytes in the choroid layer of the eye. | ||
| 000452 | WB.129-Spnb1ja/J | Cryopreserved - Ready for recovery |
| Mice homozygous for the jaundiced mutation are very pale but not jaundiced at birth, but develop severe jaundice within hours of being born. They have severe microcytic hemolytic anemia, and most die by 4 days of age, even on a mixed background, but a single blood transfusion in the first days of life can foster survival of homozygotes. On a mixed C57BL/6J x WB/Re background transfused homozygotes generally survive to adulthood and are reported to have a mean life expectancy of 3.7 months. The hemolytic anemia phenotype of these adults includes decreased hematocrit, very low red blood cell count, reticulocytosis, microcytosis, bilirubinemia, extensive iron accumulation in the kidney, elevated blood urea nitrogen, hydronephrosis, hepatomegaly, splenomegaly of predominantly red pulp, and cardiomegaly, but less severe thrombosis than is found in mice homozygous for the mutation spherocytosis (Spna1sph). The erythrocytes are extremely fragile and have a very short lif ..... For more information please see the full phenotype on the strain data sheet | ||
| 000802 | WB.Cg-Hbath-J/J | Cryopreserved - Ready for recovery |
| 000791 | WB.Cg-f/J | Cryopreserved - Ready for recovery |
| Flexed tail homozygotes can be identified hematologically as earlyas embryonic day 13 and are detectably paler than normal by embryonic day 16, with most paler than normal by embryonic day 15. Homozygotes are small at birth and have a transitory siderocytic hypochromic anemia due to defective heme synthesis in fetal but not adult reticulocytes. Fetal erythrocytes have more alpha hemoglobin synthesis than beta hemoglobin synthesis. Very high numbers of siderocytes are found at birth and this decreases during the first few weeks of life and stabilizes at approximately 3 weeks of age with 3% siderocytes, significantly higher than in wildtype adults. Most homozygotes have a belly spot and 1 to 5 flexures in the tail due to vertebral fusions. Vertebral fusions are also found elsewhere in the vertebral column. Fewer than expected homozygotes are generated indicating prenatal death and the postnatal death rate is approximately 4 times normal. A small minority of homozygotes have been ..... For more information please see the full phenotype on the strain data sheet | ||
| 000451 | WB.D1-Spna1sph-ha/BrkJ | Cryopreserved - Ready for recovery |
| Homozygotes provide a molecular and phenotypic model of hereditary spherocytosis type 3 and a phenotypic model for hereditary spherocytosis type 1 and some aspects of sickle cell anemia. Most phenotypic assessment has been performed using F1 homozygous offspring of heterozygotes from the C57BL/6J and WB/Re congenic strains or homozygotes generated on a B6;WB segregating background. Approximately half die by 6 months of age. Homozygotes display hemolytic anemia with spherocytosis, microcytosis, reduced hematocrit, reticulocytisis, extramedullary hematopoiesis in the spleen and liver, lymphocytosis, neutrophilia, lymph node hyperlasia, and cardiac hypertrophy. Homozygotes can be identified within the first day of birth by their jaundiced color. Consequent to the underlying disorder, homozygotes are prone to developing gallstones, pneumonitis, and vaso-occulsive disease in multiple organs. | ||
| 000161 | WB.D2-KitlSl-d/J | Cryopreserved - Ready for recovery |
| The multiple steel mutations (KitlSl) behave in a semidominant fashion and cause deficiencies in pigment cells, germ cells, and blood cells paralleling those caused by the Kit locus mutations (dominant spotting alleles). Most of the alleles at steel locus cause severe anemia in utero and death by 15 to 16 days of gestation in homozygous mutant mice. However, steel-Dickie homozygotes (KitlSl-d/KitlSl-d) and compounds of steel and steel Dickie (KitlSl/KitlSl-d) are viable, black-eyed white, are usually sterile in one or both sexes, and have severe macrocytic anemia. Heterozygous steel mice have a diluted coat color with a small amount of white spotting, are viable and fertile, and may have a slight macrocytic anemia. Primordial germ cells are absent in the nonviable steel homozygotes and severely reduced in steel Dickie and steel heterozygotes. Mast cells are virtually absent in skin and other tissu ..... For more information please see the full phenotype on the strain data sheet | ||
| 017529 | 91-1 mES cells (Hsa21) | In Stock |
| 001649 | A.BY H2bc H2-T18f/SnJ-Dstncorn1/J | Research Strain |
| Mice homozygous for the recessive Dstncorn1 mutation have abnormally proliferative basal corneal epithelial cells. Focal areas of corneal epithelial hyperplasia are found by one week of age, and neovascularization is found by 14 days of age when the eyes open. This neovascularization, which progresses during the first two months of age, is not found in mice homozygous for the Dstncorn-2J allele (which is a point mutation leading to a change in a single amino acid residue). In both mutants the corneal epithelial cells show increased levels and altered organizational pattern of filamentous actin. The areas of thickened cortical epithelia yield a roughened, opaque corneal surface. At 4 weeks of age in Dstncorn1 homozygotes, expression of keratin 14 and involucrin extend into the suprabasal layer in the areas of hyperplastic corneal epithelia. There is also an increase in the levels of expression of cofilin 1, lumican and kerat ..... | ||
| 017540 | B6;CAST-GarsNmf249/JRwb | Research Strain |
| View strain phenotype and additional information on the Neuroscience Mutagenesis Facility web page for GarsNmf249 entry. Mutant mice are smaller than their littermates and develop an unsteady gait about 3 weeks of age (average 3.5weeks of age +/-0.5, n=22). The mice fail to thrive and die between 4-8 weeks of age. Males and females are affected and do not live long enough to mate normally. Although the NMF249 mutation arose in an ENU mutagenized family, it is most likely a spontaneous mutation. The parents showed no overt phenotype and produced only 1 affected mouse in a total of 24 progeny. However, when this animal was mated to a wild-type male (using ovarian transplants), half the offspring was affected, suggesting that a spontaneous dominant mutation may have occurred. Ratios from subsequent matings are consistent with a fully penetrant dominant mutation. In vitro fertilization was attempted using s ..... | ||
| 000516 | C57BLKS-Rpl24Bst/J | Research Strain |
| Belly spot and tail (Rpl24Bst) is a semidominant, homozygous in utero lethal mutation. Adult heterozygotes are viable and fertile although a reduced birth rate for heterozygotes has been reported. This may reflect incomplete penetrance, or, more likely, prenatal mortality. The Rpl24Bst mutation has variable expressivity and the heterozygous phenotypic traits include shortened and kinked tail, white feet and belly spot, malocclusion, smaller body size, exencephaly, abnormalities of the spine, ocular defects, and polydactyly. Polydactyly is found predominantly in the right rear paw, occasionally in the left front paw and rarely in the left rear or right front paws. Approximately 50-60% of the heterozygotes have a reduction in pupillary light reflex in one or both eyes due to an underlying optic nerve atrophy. Ontological studies showed a delay in the developmental fusion of the optic fissure, a disruption of the retinal layers by embryonic day 1 ..... For more information please see the full phenotype on the strain data sheet | ||
| 001489 | CALB/RkJ | Research Strain |
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