Search Criteria: Research Area is "Developmental Biology Research: Craniofacial and Palate Defects"
New Strains Awaiting Transfer from the Donor
Additional Register Interest Strains
| Stock Number |
Strain Name Strain Description |
Standard Supply |
| 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, ..... | ||
| 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). | ||
| 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). | ||
| 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. | ||
| 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. | ||
| 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 | ||
| 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 | ||
| 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. | ||
| 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 | ||
| 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). | ||
| 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 | ||
| 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. | ||
| 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. | ||
| 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. | ||
| 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 ..... | ||
| 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 | ||
| 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. | ||
| 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. | ||
| 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 | ||
| 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. | ||
| 004246 | C57BL/6J-sbse/J | Repository- Live |
| 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 | ||
| 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. | ||
| 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. | ||
| 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. | ||
| 000644 | SEA/GnJ | Repository- Live |
| 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. | ||
| 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 | ||
| 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. | ||
| 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 ..... | ||
| 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 | ||
| 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 |
| 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. | ||
| 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. | ||
| 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 | ||
| 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. | ||
| 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 | ||
| 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. | ||
| 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. | ||
| 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 ..... | ||
| 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. | ||
| 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 ..... | ||
| 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. | ||
| 008568 | B6(CAST)-Prkralear/GrsrJ | Cryopreserved - Ready for recovery |
| Homozygotes have an overall reduced body size and smaller than normal ear pinna. | ||
| 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. | ||
| 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. | ||
| 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 | ||
| 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. | ||
| 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. | ||
| 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. | ||
| 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 | ||
| 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 | ||
| 004202 | B6.C3 Pde6brd1 Hps4le/+ +-Lmx1adr-8J/J | Cryopreserved - Ready for recovery |
| 000056 | B6.Cg-Bmp5se/J | Cryopreserved - Ready for recovery |
| 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 ..... | ||
| 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. | ||
| 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 | ||
| 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 ..... | ||
| 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. | ||
| 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. | ||
| 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. | ||
| 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. | ||
| 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. | ||
| 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 | ||
| 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. | ||
| 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. | ||
| 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. | ||
| 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. | ||
| 000221 | B6C3Fe a/a-Alx4lst-J/J | Cryopreserved - Ready for recovery |
| 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 ..... | ||
| 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. | ||
| 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 | ||
| 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. | ||
| 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. | ||
| 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. | ||
| 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 | ||
| 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. | ||
| 005322 | C57BL/6J-Gusbmps-3J/J | Cryopreserved - Ready for recovery |
| 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 | ||
| 000118 | C57BL/6J-Ph/J | Cryopreserved - Ready for recovery |
| 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. | ||
| 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. | ||
| 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 | ||
| 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. | ||
| 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. | ||
| 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 ..... | ||
| 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 ..... | ||
| 000265 | MY/HuLeJ | Cryopreserved - Ready for recovery |
| 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. | ||
| 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 |
| 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. | ||
| 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 ..... | ||
| 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. | ||
| 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 | ||
| 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 ..... | ||
| 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 | ||
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