JAX Mice Database - Skeletal Defects

Search Criteria: Research Area is "Developmental Biology Research: Skeletal Defects"

JAX^® Mice 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 descriiption on the strain data sheet
004293	129-Shh^tm2Amc/J	Repository- Live
	Mice that are homozygous for the Shh^tm2Amc 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 ..... For more information please see the full descriiption on the strain data sheet
008001	129S-Dvl2^tm1Awb/J	Repository- Live
	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.
007199	129S-Sgpl1^{Gt(ROSA)78Sor}/J	Repository- Live
	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 descriiption on the strain data sheet
005136	A/WySnJ-ctl/J	Repository- Live
	Mice homozygous for the ctl mutation are easily recognizable at birth by their curly or bent tails.
000578	B6 x STOCK Tyr^c-ch Bmp5^se +/+ Myo6^sv/J	Repository- Live
	Mice homozygous for the Snell's waltzer spontaneous mutation (Myo6^sv) 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 Myo6^sv 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 ..... For more information please see the full descriiption on the strain data sheet
003916	B6(Cg)-Col2a1^sedc/J	Repository- Live
	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).
005717	B6(NOD) H2^g7-Sostdc1^shk/J	Repository- Live

005576	B6.129P2-P2rx7^tm1Gab/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 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 significant reduct ..... For more information please see the full descriiption on the strain data sheet
005623	B6.129S-Shh^{tm2(cre/ESR1)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.
005981	B6.129S7-Rai1^tm1Jrl/J	Repository- Live
	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 descriiption on the strain data sheet
003568	B6.129S7-Trp63^tm2Brd/J	Repository- Live
	Mills 1999 Nature 398:708 describes the homozygous phenotype on a mixed B6-Tyr^c-Brd;129S7(129S5) background. Further, they not distinguish between the two targeted alleles (pTV6H(90)-generated p63^Brdm1 [Trp63^tm1Brd] or pTV12E(60)-generated p63^Brdm2 [Trp63^tm2Brd]) as both "produced an identical phenotype." Homozygous mice are born alive, but die several hours after birth. No transcripts have been detected in homozygotes. They have striking developmental defects, exhibiting truncated forelimbs, absent hindlimbs, and transparent skin with a complete lack of hair follicles. Both the gross and histological appearance of internal organs is normal. Functional permeability of the skin is dramatically increased; homozygous mice lose thirty times more water than normal littermates. It is presumed that death occurs from dehydration. Heterozygous mice are viable, fertile, and do not exhibit any overt developm ..... For more information please see the full descriiption on the strain data sheet
005644	B6.129X-Gusb^tm3Sly/J	Repository- Live
	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 descriiption on the strain data sheet
006557	B6.C3-Gusb^mps-2J/BrkJ	Repository- Live
	Mice homozygous for the Gus^mps-2J allele exhibit a phenotype similar to Gus^mps 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 Gus^mps heterozygote, Gus^mps-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 Gus^mps homozygote, Gus^mps-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 descriiption on the strain data sheet
006562	B6.CBy(Cg)-Gusb^mps Gpi1^a-m1J/BrkJ	Repository- Live
	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.
005622	B6.Cg-Shh^{tm1(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 descriiption 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. These Osx1-GFP::Cre mut ..... For more information please see the full descriiption on the strain data sheet
007084	B6.FVB(Cg)-Mmp9^tm1Tvu/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 ..... For more information please see the full descriiption on the strain data sheet
007204	B6;129S4-2610005L07Rik^{Gt(ROSA)73Sor}/J	Repository- Live
	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 descriiption on the strain data sheet
007200	B6;129S4-Arid5b^{Gt(ROSA)75Sor}/J	Repository- Live
	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 3 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.
007845	B6;129S4-Myf5^tm3(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.
007203	B6;129S4-Zfand5^{Gt(ROSA)72Sor}/J	Repository- Live
	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.
007202	B6;129S4-Zfp826^{Gt(ROSA)76Sor}/J	Repository- Live
	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 descriiption on the strain data sheet
004758	B6;129S7-Wnt5a^tm1Amc/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.
003506	B6;C-Npr3^lgj/J	Repository- Live

004200	B6;CBACa A^w-J/A-Npr2^cn-2J/J	Repository- Live
	Mice carrying the Npr2^cn-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.
001815	B6C3Fe a/a-Col1a2^oim/J	Repository- Live

000231	B6C3Fe a/a-Csf1^op/J	Repository- Live
	Mice homozygous for the osteopetrosis spontaneous mutation (Csf1^op) 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.
001573	B6C3Fe a/a-Mitf^Mi/J	Repository- Live
	Mutations at the Mitf locus affect eye size, pigmentation, and the capacity for secondary bone resorption. Mice heterozygous for the Mitf^Mi 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.
003922	BALB/cByJ-Clcn1^adr-mto2J jgl/J	Repository- Live
	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 seminipherous 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.
004476	C3H/HeJ-snol/J	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.
003525	C3H/HeOuJ-Gusb^mps-2J/BrkJ	Repository- Live
	Mice homozygous for the Gus^mps-2J allele exhibit a phenotype similar to Gus^mps 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 Gus^mps heterozygote, Gus^mps-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 Gus^mps homozygote, Gus^mps-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 a different set of ..... For more information please see the full descriiption on the strain data sheet
004246	C57BL/6J-sbse/J	Repository- Live

000516	C57BLKS-Rpl24^Bst/J	Repository- Live
	Belly spot and tail (Rpl24^Bst) 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 Rpl24^Bst 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 descriiption on the strain data sheet
006448	C;A-Bolt/J	Repository- Live

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.
006057	DBA/2J-sky/J	Repository- Live

004828	FVB.129P2-Pde6b⁺ Tyr^c-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-Fmr1^tm1Cgr/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 Tyr^c-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-Fmr1^tm1Cgr/J strain, Stock No. 004624 .
008343	FVB.Cg-Hydin^hy3/MlrJ	Repository- Live
	Mice homozygous for the hydrocephalus 3 spontaneous mutation of the hydrocephalus inducing gene (Hydin^hy3) 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 Hydin^hy3 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 ..... For more information please see the full descriiption on the strain data sheet
005053	NOD.Cg-Prkdc^scid Gusb^mps/SndsJ	Repository- Live
	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-Prkdc^scid background, this strain can be used for xenotransplantation experiments and cell trafficking studies (Hofling et al., 2003).
008254	NOD/ShiLtJ-Npr3^lgj-4J/J	Repository- Live

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 (Tyrp1^b), pink-eyed dilution (Oca2^p), short ear (Bmp5^se), dilute Myo5a^d), and retinal degeneration 1 (Pdeb1^rd1).
002503	ROP/Le-Os Es1^a/+ Es1^a/J	Repository- Live
	This strain originally was maintained segregating for Os and Es1, which are approximately 3 cM apart on Chr 8, such that Os and Es1^b occurred in coupling opposite the wild-type Os allele and Es1^a. In October 2002, it was discovered that a recombination event between Os and Es1 had resulted in the strain's becoming fixed for Es1^a.
000268	RSV/LeJ	Repository- Live
	Mice heterozygous for the varitint-waddler spontaneous mutation (Mcoln3^Va) 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 (Mcoln3^Va-J > ..... For more information please see the full descriiption on the strain data sheet
000644	SEA/GnJ	Repository- Live

002759	SM;NZB-Fbxw4^Dac/J	Repository- Live

003081	STOCK Ptch1^tm1Mps/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.
003818	STOCK bdd/J	Repository- Live
	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.
001813	STOCK ct/J	Repository- Live

005040	STOCK Tg(Pfkl)224Yg/J-Dll3^pu-J/J	Repository- Live
	This recessive remutation to Dll3^pu 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.
000274	TSJ/LeJ	Repository- Live

002484	129-Alpl^tm1Sor/J	Repository-Cryopreserved
	Mice heterozygous for the Alpl^tm1Sor 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.
000212	129P4.Cg-Axin1^Fu/J	Repository-Cryopreserved
	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 Axin1^Fu 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.)
003383	129S-Nog^tm1Amc/J	Repository-Cryopreserved
	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-Schip1^{Gt(ROSA)77Sor}/J	Repository-Cryopreserved
	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.
000091	129T1/Sv-Oca2⁺ Tyr^c-ch Dnd1^Ter/J	Repository-Cryopreserved

001279	129T1/Sv-Oca2⁺ Tyr^c-ch-Aft/J	Repository-Cryopreserved
	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 descriiption on the strain data sheet
003485	A/J-frg/J	Repository-Cryopreserved
	Mice homozygous for the froggy mutation have a smaller body size and a shortened face with wide set eyes.
000004	ABP/LeJ	Repository-Cryopreserved
	Mice homozygous for the Tgfa^wa1 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 Adamts20^bt 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 ..... For more information please see the full descriiption on the strain data sheet
000277	ATEB/LeJ	Repository-Cryopreserved
	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 (Grip1^eb).
000214	B10.D2/nSn-Shh^Hx/J	Repository-Cryopreserved

002225	B10.M-H2^f/nMob Fmn1^ld-2J/J	Repository-Cryopreserved

000419	B10.UW-H3^b we Pax1^un a^t/SnJ	Repository-Cryopreserved

003879	B10;TFLe-a/a T tf/+ tf/J	Repository-Cryopreserved

000405	B10ScSn.Cg-T/J	Repository-Cryopreserved

003561	B6 x B10.PL-H2^u/(73NS)Sn-Hxl/J	Repository-Cryopreserved

000953	B6 x BALB/cBy-T^4J/J	Repository-Cryopreserved

002239	B6 x BALB/cJ-Gdf5^bp-3J/J	Repository-Cryopreserved

002995	B6 x C.B10-H2^b/LiMcdJ-Fbn2^fp-2J/J	Repository-Cryopreserved
	Mice homozygous for the recessive fused phalanges 2 Jackson mutation (Fbn2^fp-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/t^h45 tf/J	Repository-Cryopreserved

006564	B6(C)-Kit^W-41J Gusb^mps/BrkJ	Repository-Cryopreserved
	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 Kit^W-41J mice are mostly white with black eyes and brown or grey spots. 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 disease ..... For more information please see the full descriiption on the strain data sheet
004068	B6.129-Idua^tm1Clk/J	Repository-Cryopreserved
	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-Kif3a^tm1Gsn/J	Repository-Cryopreserved
	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-Psen1^tm1Mpm/J	Repository-Cryopreserved
	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 descriiption on the strain data sheet
003615	B6.129-Psen1^tm1Shn/J	Repository-Cryopreserved
	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-Ski^tm1Cco/J	Repository-Cryopreserved
	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 descriiption on the strain data sheet
003142	B6.129P2-Prlr^tm1Cnp/J	Repository-Cryopreserved
	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.
002612	B6.129S2-Bmp4^tm1Blh/J	Repository-Cryopreserved
	Mice homozygous for the Bmp4^tm1Blh 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-Alpl^tm1Sor/J	Repository-Cryopreserved
	Mice heterozygous for the Alpl^tm1Sor 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-Bmp7^tm1Kry/J	Repository-Cryopreserved
	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-Cdkn1c^tm1Sje/J	Repository-Cryopreserved
	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.
002277	B6.129S7-Src^tm1Sor/J	Repository-Cryopreserved
	Mice homozygous for the Src^tm1Sor 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 Src^tm1Sor mutation have no apparent abnormalities.
005643	B6.129X-Gusb^tm1Sly/J	Repository-Cryopreserved
	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 descriiption on the strain data sheet
002099	B6.129X1-Fos^tm1Pa/J	Repository-Cryopreserved
	Mice homozygous for the Fos^tm1Pa 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^bm1/ByBir-Gusb^mps/BrkJ	Repository-Cryopreserved
	Mice homozygous for the Gusb^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. 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^bm1/ByBir-Gusb^mps/J	Repository-Cryopreserved
	Mice homozygous for the Gusb^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. 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-Gli3^Xt-J/J	Repository-Cryopreserved
	Mice heterozygous for the extra toes-J spontaneous mutation (Gli3^Xt-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.
000100	B6.C3-Zbtb16^Lu/J	Repository-Cryopreserved
	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.
000056	B6.Cg-Bmp5^se/J	Repository-Cryopreserved

004275	B6.Cg-Fign^fi/Frk	Repository-Cryopreserved

006407	B6.Cg-Gusb^mps/BrkJ	Repository-Cryopreserved
	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 H2^b 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-Gusb^mps Tg(Gus^sx)1Wat/J	Repository-Cryopreserved
	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 (Gus^sx) 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 Gus^mps homozygotes indicating rescue by Gus^sx. (Niermann and Watson, 1999; Paigen 1989.)
000194	B6.Cg-Lx Kit^W-v/J	Repository-Cryopreserved
	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. Kit^W-v homozygotes resemble Kit^W 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 Kit^W-v/ ..... For more information please see the full descriiption on the strain data sheet
000158	B6.Cg-Mitf^Mi-wh/Mitf^Mi/J	Repository-Cryopreserved
	Mutations at the Mitf locus affect eye size, pigmentation, and the capacity for secondary bone resorption. Mice homozygous for the white allele (Mitf^Mi-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 (Mitf^Mi) 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 descriiption on the strain data sheet
000566	B6.Cg-Os +/+ Cacna1a^tg-la/J	Repository-Cryopreserved
	Mice homozygous for the leaner spontaneous mutation (Cacna1a^tg-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 (Cacna1a^tg-la/Cacna1a^tg) 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	Repository-Cryopreserved

000285	B6.Cg-Rora^sg + +/+ Myo5a^d Bmp5^se/J	Repository-Cryopreserved
	Mice homozygous for the staggerer spontaneous mutation (Rora^sg) 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 Rora^sg/Rora^sg mice on the C57BL/6J background relative to wild type siblings. In this congenic strain the staggerer mutation is maintain ..... For more information please see the full descriiption on the strain data sheet
000567	B6.Cg-T^2J +/+ Qk^qk/J	Repository-Cryopreserved
	Mice homozygous for the quaking spontaneous mutation (Qk^qk) 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 (T^2J) is maintained in repulsion with the quaking mutation.
001015	B6.Cg-T^4Or/J	Repository-Cryopreserved

000104	B6.Cg-Tyr^c-h/J	Repository-Cryopreserved

000518	B6.Cg-Usp14^ax-J/J	Repository-Cryopreserved
	The first outward sign of homozygosity for the recessive mutation Usp14^ax-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 descriiption on the strain data sheet
001052	B6.L-Tbx6^rv/J	Repository-Cryopreserved

003523	B6.ROP/Le-Os/J	Repository-Cryopreserved

007947	B6;129P2-He/J	Repository-Cryopreserved

004234	B6;129S-Fgfr3^tm1Dor/J	Repository-Cryopreserved
	Approximately 50% of mice that are homozygous for the Fgfr3^tm1Dor 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-Psen1^tm1Shn/J	Repository-Cryopreserved
	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.
004858	B6;129S1-Tshr^tm1Rmar/J	Repository-Cryopreserved
	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 descriiption on the strain data sheet
007208	B6;129S4-Axud1^{Gt(ROSA)80Sor}/J	Repository-Cryopreserved
	Mice homozygous for this Axud1-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 Axud1-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-Col1a1^tm1Jae/J	Repository-Cryopreserved
	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.
007207	B6;129S4-Zfp640^{Gt(ROSA)81Sor}/J	Repository-Cryopreserved
	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-Alpl^tm1Sor/J	Repository-Cryopreserved
	Mice heterozygous for the Alpl^tm1Sor 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-Fst^tm1Zuk/J	Repository-Cryopreserved
	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-Hoxb4^tm1Bay/J	Repository-Cryopreserved

002381	B6;129S7-Src^tm1Sor/J	Repository-Cryopreserved
	Mice homozygous for the Src^tm1Sor 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 Src^tm1Sor mutation have no apparent abnormalities.
002293	B6;129X1-Fos^tm1Pa/J	Repository-Cryopreserved
	Mice homozygous for the Fos^tm1Pa 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/J	Repository-Cryopreserved
	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.
000350	B6By.Cg-Kit^W-v Mitf^Mi-wh T/J	Repository-Cryopreserved
	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. Kit^W-v homozygotes resemble Kit^W 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 (Mitf^Mi-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 (Mitf^Mi-wh/+) have a dilut ..... For more information please see the full descriiption on the strain data sheet
000126	B6By.Cg-Sd Mcoln3^Va-J Krt25^Re/J	Repository-Cryopreserved
	Mice heterozygous for the varitint-waddler Jackson spontaneous mutation (Mcoln3^Va-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 (Mcoln3^Va-J/Mcoln3^Va) are similar to Mcoln3^Va-J/Mcoln3^Va-J mice but are smaller with more white spotting and abnormal behavior. They are deaf and circle vigorously. Viability and fertility of Mcoln3^Va-J/Mcoln3^Va mice are considerably reduced. This strain is also carrying two other mutations, rex (Krt25^Re) and Danforth's short tail (Sd).
000125	B6By.Cg-Sox18^Ra Pt Os/J	Repository-Cryopreserved
	The Sox18^Ra and Sox18^Ra-J alleles cause a less severe phenotype than the Sox18^Ra-Op allele. The Sox18^Ra and Sox18^Ra-J alleles are similar mutations and give a very similar phenotype. The Sox18^Ra 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, Sox18^Ra/+ coats have longer g ..... For more information please see the full descriiption on the strain data sheet
000221	B6C3Fe a/a-Alx4^lst-J/J	Repository-Cryopreserved

000209	B6C3Fe a/a-Dh/J	Repository-Cryopreserved
	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 Pde6b^rd1 allele contributed to this strain by C3FeLe.B6-a causes blindness and is segregating in this strain.
002875	B6C3Fe a/a-Hoxd13^spdh/J	Repository-Cryopreserved
	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 descriiption on the strain data sheet
000278	B6C3Fe a/a-Papss2^bm Hps1^ep Hps6^ru/J	Repository-Cryopreserved

000205	B6C3Fe a/a-Papss2^bm/J	Repository-Cryopreserved

001430	B6C3Fe a/a-Ptch1^mes/J	Repository-Cryopreserved
	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-Tcirg1^oc/J	Repository-Cryopreserved
	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	Repository-Cryopreserved

001750	B6C3Fe a/a-Xs^J/J	Repository-Cryopreserved

002018	B6C3Fe a/a-din/J	Repository-Cryopreserved

000063	B6C3Fe a/a-sy/J	Repository-Cryopreserved
	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 Pax1^un a^t/J	Repository-Cryopreserved
	The affected mutant (we Pax1^un a^t/we Pax1^un a^?) has a wavy coat, wavy tail, and is black and tan.
000296	B6C3Fe-a/a Hoxa13^Hd Mcoln3^Va-J/J	Repository-Cryopreserved
	Mice heterozygous for the varitint-waddler Jackson spontaneous mutation (Mcoln3^Va-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 of the two alleles (Mcoln3^Va-J/Mcoln3^Va) are similar to Mcoln3^Va-J/Mcoln3^Va-J mice but are smaller with more white spotting and abnormal behavior. They are deaf and circle vigorously. Viability and fertility of Mcoln3^Va-J/Mcoln3^Va mice are considerably reduced. This strain is also carrying the semidominant hypodactyly spontaneous mutation (Hoxa13^Hd). Heterozygous hyp ..... For more information please see the full descriiption on the strain data sheet
000515	B6CBACa A^w-J/A-Sfn^Er/J	Repository-Cryopreserved

000551	B6EiC3 a/A-Tbx15^de-H/J	Repository-Cryopreserved

000557	B6EiC3-+ a/Lnp^Ul A/J	Repository-Cryopreserved

007554	B6SJL-Bmper^tm1Emdr/J	Repository-Cryopreserved
	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-Twsg1^tm1Emdr/J	Repository-Cryopreserved
	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-Gulo^sfx/J	Repository-Cryopreserved
	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.)
000652	BDP/J	Repository-Cryopreserved

001049	BKS.Cg-mea^2J m/+ +/J	Repository-Cryopreserved
	Mice homozygous for the meander tail 2J spontaneous mutation (mea^2J) have a phenotype that is very similar to the original meander tail (mea) and meander tail J mice (mea^J). 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 (m).
001192	BKS.Cg-mea^J Lepr^db +/+ + m/J	Repository-Cryopreserved
	Mice homozygous for the meander tail-J spontaneous mutation (mea^J) have variably shortened and kinked tails. At about 2 weeks an unsteadiness of gait, often amounting to a tremor, appears. Homozygous mutant mice 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 mutation occurred in the BKS.Cg-Lepr^db +/+ m strain so it is also segregating for the diabetes (Lepr^db) and misty (m) mutations. See strain description for BKS.Cg-Lepr^db +/+ m (Stock No. 000642) for more information.
000250	BNT/LeJ	Repository-Cryopreserved
	In the early 1950s, a wild type female from the Namru strain was crossed with a bald hr^ba/hr^ba 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 descriiption on the strain data sheet
003478	C.129P2-Cbx2^tm1Cim/J	Repository-Cryopreserved
	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-Myf5^tm1Jae/J	Repository-Cryopreserved
	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.
000244	C3Fe(B6)-Fbn2^fp/J	Repository-Cryopreserved
	Mice homozygous for the recessive fused phalanges mutation (Fbn2^fp) 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 Fbn2^fp homozygotes, rotary shadowing electron microscopy identifies abundant, morphologically normal microfibrils in adult skin and lung (Chaudhry et al., 2001).
002758	C3Fe.Cg-scb/J	Repository-Cryopreserved
	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/A^w-J-Ank^ank/J	Repository-Cryopreserved
	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 descriiption on the strain data sheet
000291	C3FeLe.Cg-a/a Hm Kitl^Sl Krt71^Ca-J/J	Repository-Cryopreserved
	The multiple steel mutations (Kitl^Sl) 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. Kitl^Sl/Kitl^Sl-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 descriiption on the strain data sheet
001431	C3H/HeSn-ocd/J	Repository-Cryopreserved

001434	C3HeB/FeJ x STX/Le-Mc1r^E-so Gli3^Xt-J Tw/J	Repository-Cryopreserved
	Mice heterozygous for the twirler mutation (Tw) 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 (Mc1r^E-so) and extra toes-Jackson (Gli3^St-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 are evident at E ..... For more information please see the full descriiption on the strain data sheet
001533	C3HeB/FeJ-Mc1r^E-so Gli3^Xt-J/J	Repository-Cryopreserved
	Mice heterozygous for the extra toes-J spontaneous mutation (Gli3^Xt-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 (Mc1r^E-so).
002197	C57BL/6-Col1a1^Mov13/J	Repository-Cryopreserved
	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.
001496	C57BL/6J-Bmp5^se-4J/J	Repository-Cryopreserved

005322	C57BL/6J-Gusb^mps-3J/J	Repository-Cryopreserved

000529	C57BL/6J-Lbr^ic-J/J	Repository-Cryopreserved
	Lbr^ic-J/Lbr^ic-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 cereb

JAX® Mice Strains

JAX^® Mice Strains