Search Criteria: Research Area is "Developmental Biology Research: Skeletal Defects"
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 | ||
| 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. | ||
| 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. | ||
| 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 | ||
| 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 | ||
| 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 ..... | ||
| 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 ..... | ||
| 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 | ||
| 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. | ||
| 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 | ||
| 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 | ||
| 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 | ||
| 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 | ||
| 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 ..... | ||
| 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. | ||
| 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 ..... | ||
| 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. | ||
| 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. | ||
| 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. | ||
| 001815 | B6C3Fe a/a-Col1a2oim/J | Repository- Live |
| 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. | ||
| 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. | ||
| 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. | ||
| 004246 | C57BL/6J-sbse/J | Repository- Live |
| 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. | ||
| 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. | ||
| 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. | ||
| 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 |
| 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. | ||
| 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. | ||
| 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 ..... | ||
| 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. | ||
| 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 ..... | ||
| 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 | ||
| 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. | ||
| 017693 | STOCK Gsk3btm1Grc/J | Under Development - Now Accepting Orders |
| 004807 | B6;129-Psen1tm1Mpm Tg(APPSwe,tauP301L)1Lfa/Mmjax | Transferred |
| 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. | ||
| 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. | ||
| 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. | ||
| 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. | ||
| 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 | ||
| 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). | ||
| 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 |
| 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. | ||
| 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. | ||
| 000214 | B10.D2/nSn-ShhHx/J | Cryopreserved - Ready for recovery |
| 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 |
| 000953 | B6 x BALB/cBy-T4J/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 ..... | ||
| 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 | ||
| 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). | ||
| 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. | ||
| 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. | ||
| 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). | ||
| 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. | ||
| 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. | ||
| 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 | ||
| 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. | ||
| 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. | ||
| 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. | ||
| 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 ..... | ||
| 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. | ||
| 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. | ||
| 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. | ||
| 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. | ||
| 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 | ||
| 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 | ||
| 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. | ||
| 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. | ||
| 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 | ||
| 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. | ||
| 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. | ||
| 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. | ||
| 004275 | B6.Cg-Fignfi/Frk | 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.) | ||
| 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. | ||
| 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 ..... | ||
| 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 |
| 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 | ||
| 001052 | B6.L-Tbx6rv/J | Cryopreserved - Ready for recovery |
| 004521 | B6.PL-Nppclbab/GrsrJ | Cryopreserved - Ready for recovery |
| 003523 | B6.ROP/Le-Os/J | Cryopreserved - Ready for recovery |
| 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 | ||
| 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. | ||
| 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. | ||
| 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. | ||
| 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. | ||
| 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. | ||
| 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 | ||
| 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. | ||
| 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. | ||
| 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. | ||
| 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 |
| 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. | ||
| 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. | ||
| 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. | ||
| 003506 | B6;C-Npr3lgj/J | Cryopreserved - Ready for recovery |
| 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. | ||
| 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). | ||
| 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 | ||
| 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. | ||
| 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 | ||
| 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. | ||
| 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. | ||
| 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. | ||
| 000248 | B6C3Fe a/a-Xpl/J | Cryopreserved - Ready for recovery |
| 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. | ||
| 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 | ||
| 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 | ||
| 000551 | B6EiC3 a/A-Tbx15de-H/J | Cryopreserved - Ready for recovery |
| 000557 | B6EiC3-+ a/LnpUl A/J | Cryopreserved - Ready for recovery |
| 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. | ||
| 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. | ||
| 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. | ||
| 000652 | BDP/J | Cryopreserved - Ready for recovery |
| 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. | ||
| 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. | ||
| 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. | ||
| 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 | ||
| 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). | ||
| 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 | ||
| 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. | ||
| 007782 | C3H/HeJ-Pofut1cax/J | Cryopreserved - Ready for recovery |
| 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 | ||
| 001431 | C3H/HeSn-ocd/J | Cryopreserved - Ready for recovery |
| 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 | ||
| 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). | ||
| 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. | ||
| 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 | ||
| 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 | ||
| 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 | ||
| 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. | ||
| 005322 | C57BL/6J-Gusbmps-3J/J | Cryopreserved - Ready for recovery |
| 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.) | ||
| 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 ..... | ||
| 000545 | C57BL/6J-T2J/J | Cryopreserved - Ready for recovery |
| 001199 | C57BL/6J-T5J/J | Cryopreserved - Ready for recovery |
| 001961 | C57BL/6JEi x STOCK T T(16;17)43H/+ T(16;17)43H/Ei | Cryopreserved - Ready for recovery |
| 003913 | C;STOCK Npr2cn/J | Cryopreserved - Ready for recovery |
| 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. | ||
| 002766 | CBy.MRL-Fbxw4Dac-2J/J | Cryopreserved - Ready for recovery |
| 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 | ||
| 006003 | D2.129P2(Cg)-Cbx2tm1Cim/Ei | 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 ..... | ||
| 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. | ||
| 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. | ||
| 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 | ||
| 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. | ||
| 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. | ||
| 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 ..... | ||
| 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. | ||
| 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 | ||
| 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 |
| 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). | ||
| 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). | ||
| 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. | ||
| 000264 | SM/Ckc-Fbxw4Dac/J | Cryopreserved - Ready for recovery |
| 001427 | STOCK Aw us/J | Cryopreserved - Ready for recovery |
| 000306 | STOCK Dll3pu + Tyrc-ch/+ Oca2p Tyrc-ch/J | Cryopreserved - Ready for recovery |
| 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). | ||
| 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 | ||
| 001880 | STOCK Gusbmps Tg(GUSB)4Sly/BirJ | Cryopreserved - Ready for recovery |
| 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. | ||
| 000239 | STOCK Jag2sm/J | Cryopreserved - Ready for recovery |
| 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. | ||
| 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 | ||
| 000020 | STOCK Nototc/J | Cryopreserved - Ready for recovery |
| 000294 | STOCK Npr2cn/J | Cryopreserved - Ready for recovery |
| 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. | ||
| 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 ..... | ||
| 001829 | STOCK Tsv/J | Cryopreserved - Ready for recovery |
| 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. | ||
| 000319 | STOCK a us/J | Cryopreserved - Ready for recovery |
| 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. | ||
| 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 | ||
| 000596 | STOCK T(2;11)30H/+ x AEJ-a Gdf5bp-H/J or A/J-a Gdf5bp-J/J | Cryopreserved - Ready for recovery |
| 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. | ||
| 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. | ||
| 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 | ||
| 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 | ||
(263 stocks) Back to Top
How to Register Interest
Please indicate your interest in purchasing any of the strains listed below when they become available for distribution by checking the box next to the strain(s) of interest and then selecting the "Continue" button which leads to an Interest Form.View a Data sheet for New Strains Awaiting Transfer
Select the strain name to link to the strain data sheet.
Send questions to our Technical Support team using the Express Technical Support Form.
(5.3)