JAX Mice Database - Spontaneous Mutation

Search Criteria: Strain Type is "Spontaneous Mutation"

JAX^® Mice Strains

Stock Number	Strain Name Strain Description	Standard Supply
000659	C3H/HeJ	Level 1
	C3H/HeJ mice are used as a general purpose strain in a wide variety of research areas including cancer, immunology and inflammation, sensorineural, and cardiovascular biology. C3H/HeJ mice and all other Jackson substrains are homozygous for the retinal degeneration 1 mutation (Pde6b^rd1), which causes blindness by weaning age. White belly spots, ranging in phenotype from a few white hairs to a defined spot are common in C3H/HeJ mice. There is also a high incidence of hepatomas in C3H mice (reportedly 72-91% in males at 14 months, 59% in virgin females, 30-38% in breeding females). Despite the lack of exogenous mouse mammary tumor virus (MMTV), virgin and breeding females may still develop some mammary tumors later in life. C3H/HeJ mice, fed an atherogenic diet (1.25% cholesterol, 0.5% cholic acid and 15% fat), fail to develop atherosclerotic aortic lesions in contrast to several highly susceptible strains of mice (e.g. C57BL/6J, Stock No. For more information please see the full phenotype on the strain data sheet
000664	C57BL/6J	Level 1
	C57BL/6 is the most widely used inbred strain. It is commonly used as a general purpose strain and background strain for the generation of congenics carrying both spontaneous and induced mutations. Although this strain is refractory to many tumors, it is a permissive background for maximal expression of most mutations. C57BL/6J mice are used in a wide variety of research areas including cardiovascular biology, developmental biology, diabetes and obesity, genetics, immunology, neurobiology, and sensorineural research. C57BL/6J mice are also commonly used in the production of transgenic mice. Overall, C57BL/6 mice breed well, are long-lived, and have a low susceptibility to tumors. Primitive hematopoietic stem cells from C57BL/6J mice show greatly delayed senescence relative to BALB/c and DBA/2J. This is a dominant trait. Other characteristics include: 1) a high susceptibility to diet-induced obesity, type 2 diabetes, and atherosclerosis; 2) a high incidence of microphthalmia and other a ..... For more information please see the full phenotype on the strain data sheet
001800	FVB/NJ	Level 1
	FVB/NJ was inbred for the Fv1^b allele which confers sensitivity to the Friend leukemia virus B strain. Due to the prominent pronuclei in their fertilized eggs and the large litter size, FVB/NJ mice are commonly used for transgenic injection. Compared to many other inbred strains, FVB/NJ is highly susceptible to asthma-like airway responsiveness with significant generation of antigen-specific IgE. Despite having the H2^q MHC haplotype, FVB/NJ are resistant to collagen-induced arthritis. This resistance stems from coding polymorphisms in Tcra-V11.1 and a genomic deletion of some Tcrb-V genes that includes Tcrb-V8.2. FVB/NJ have higher than average activity, anxiety, and basal body temperature, low stress-induced hyperthermia, and are homozygous for the Pde6b^rd1 allele, which results in early onset retinal degeneration. Although FVB/N typically do not develop spontaneous tumors, they are highly susceptible to chemic ..... For more information please see the full phenotype on the strain data sheet
001303	NOD.CB17-Prkdc^scid/J	Level 1
	Mice homozygous for the severe combined immune deficiency spontaneous mutation (Prkdc^scid, commonly referred to as scid) are characterized by an absence of functional T cells and B cells, lymphopenia, hypogammaglobulinemia, and a normal hematopoietic microenvironment. Normal antigen-presenting cell, myeloid, and NK cell functions are strain dependent. scid mice carry a DNA repair defect and a defect in the rearrangement of genes that code for antigen-specific receptors on lymphocytes. Most homozygotes have no detectable IgM, IgG1, IgG2a, IgG2b, IgG3, or IgA. Thymus, lymph nodes, and splenic follicles are virtually devoid of lymphocytes. scid mice accept allogeneic and xenogeneic grafts making them an ideal model for cell transfer experiments. Some scid mice will spontaneously develop partial immune reactivity. scid mice that have serum Ig levels greater than 1 ug/ml are considered "leaky." scid leakiness is highly strain depen ..... For more information please see the full phenotype on the strain data sheet
000058	B6(Cg)-Tyr^c-2J/J	Level 2
	Mice homozygous for Tyr^c-2J are phenotypically identical to homozygotes for the classic albino allele. Pigment is completely absent from skin, hair and eyes. While Tyr mRNA levels of Tyr^c-2J homozygotes are similar to those of wild-type mice, there is virtually no tyrosinase protein present (Le Fur et al. 1996). Both homozygote and heterozygote mice are highly resistant to light damage and exhibit retinal degeneration (increased photoreceptor death) into young adulthood. Degeneration does not continue in adult mice (Bravo-Nuevo et al. 2004).
000697	B6.BKS(D)-Lepr^db/J	Level 2
	Mice homozygous for the diabetes spontaneous mutation (Lepr^db) become identifiably obese around 3 to 4 weeks of age. Elevations of plasma insulin begin at 10 to 14 days and of blood sugar at four to eight weeks. Affected mice are polyphagic, polydipsic, and polyuric. The course of the disease is markedly influenced by genetic background. On the C57BL/6 background there is compensatory hyperplasia of the islet B cells, and continued hyperinsulinemia throughout an 18- to 20-month life span. Wound healing is delayed and metabolic efficiency is increased. Although normal in body weight, blood glucose, and plasma insulin, heterozygotes (Lepr^db/+) also have increased metabolic efficiency and can survive a prolonged fast longer than controls. Experiments involving destruction of the ventromedial nucleus of the hypothalamus suggest that Lepr^db may cause a defect in the hypothalamus. Steroid sulfotransferase enzymes, aberrantly expressed in ..... For more information please see the full phenotype on the strain data sheet
000632	B6.V-Lep^ob/J	Level 2
	Mice homozygous for the obese spontaneous mutation, (Lep^ob; commonly referred to as ob or ob/ob), are first recognizable at about four weeks of age. Homozygous mutant mice gain weight rapidly and may reach three times the normal weight of wild-type controls. In addition to obesity, mutant mice exhibit hyperphagia, a diabetes-like syndrome of hyperglycemia, glucose intolerance, elevated plasma insulin, subfertility, impaired wound healing, and an increase in hormone production from both pituitary and adrenal glands. They are also hypometabolic and hypothermic. The obesity is characterized by an increase in both adipocyte number and size. Adipose tissue transplants in Lep^ob homozygotes protect them from obesity, normalize insulin sensitivity, and restore fertility. Although hyperphagia contributes to the obesity, homozygotes gain excess weight and deposit excess fat even when restricted to a diet sufficient for normal weight mainte ..... For more information please see the full phenotype on the strain data sheet
000642	BKS.Cg-Dock7^m +/+ Lepr^db/J	Level 2
	Mice homozygous for the diabetes spontaneous mutation (Lepr^db) become identifiably obese around three to four weeks of age. Elevations of plasma insulin begin at 10 to 14 days of age and of blood sugar at four to eight weeks. Homozygous mutant mice are polyphagic, polydipsic, and polyuric. The course of the disease is markedly influenced by genetic background. A number of features are observed on the C57BLKS background, including an uncontrolled rise in blood sugar, severe depletion of the insulin-producing beta-cells of the pancreatic islets, and death by 10 months of age. Exogenous insulin fails to control blood glucose levels and gluconeogenic enzyme activity increases. Peripheral neuropathy and myocardial disease are seen in C57BLKS-Lepr^db homozygotes. Wound healing is delayed, and metabolic efficiency is increased. Female homozygotes exhibit decreased uterine and ovarian weights, decreased ovarian hormone production and hypercytolipidemia in fol ..... For more information please see the full phenotype on the strain data sheet
005557	NOD.Cg-Prkdc^scid Il2rg^tm1Wjl/SzJ	Level 2
	The NOD.Cg-Prkdc^scid Il2rg^tm1Wjl/SzJ mice, commonly known as NOD scid gamma (NSG), do not express the Prkdc gene nor the X-linked Il2rg gene. NSG mice are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. Histological examination of lymphoid tissues reveals absence of lymphoid cells and some cystic structures in the thymus, an absence of follicles in the spleen and markedly diminished celluarity of lymph nodes. NSG mice are deficient in mature lymphocytes, serum Ig is not detectable and natural killer (NK) cell cytotoxic activity is extremely low. These mice are resistant to lymphoma development even after sublethal irradiation treatment. These mutant mice have been shown to readily support engraftment of human CD34⁺ hematopoietic stem cells and represent a superior, long-lived model suitable for studies employing xenotransplantation strategies. Please note that the NSG carries the tr ..... For more information please see the full phenotype on the strain data sheet
001913	B6.CB17-Prkdc^scid/SzJ	Level 3
	Mice homozygous for the severe combined immune deficiency spontaneous mutation (Prkdc^scid, commonly referred to as scid) are characterized by an absence of functional T cells and B cells, lymphopenia, hypogammaglobulinemia, and a normal hematopoietic microenvironment. Normal antigen-presenting cell, myeloid, and NK cell functions are strain dependent. scid mice carry a DNA repair defect and a defect in the rearrangement of genes that code for antigen-specific receptors on lymphocytes. Most homozygotes have no detectable IgM, IgG1, IgG2a, IgG2b, IgG3, or IgA. Thymus, lymph nodes, and splenic follicles are virtually devoid of lymphocytes. scid mice accept allogeneic and xenogeneic grafts making them an ideal model for cell transfer experiments. Some scid mice will spontaneously develop partial immune reactivity. scid mice that have serum Ig levels greater than 1 ug/ml are considered "leaky." scid leakiness is highly strain depen ..... For more information please see the full phenotype on the strain data sheet
001801	C57BL/10ScSn-Dmd^mdx/J	Level 3
	The X-linked dystrophin gene (Dmd) is highly expressed in muscle cells and encodes a cytoskeletal protein which localizes to the inner face of the sarcolemma. Dystrophin molecules bind to cytoskeletal F-actin and transmembrane beta-dystroglycan as part of a complex, multimolecular unit that mediates signaling between the intracellular cytoskeleton and the extracellular matrix. The structure and localization also suggest that dystrophin is important for stabilizing the plasma membrane, particularly during contraction. The mdx mutation of Dmd is recessive and heterozygous females are visually indistinguishable from wild-type mice. Females homozygous and males hemizygous for the Dmd^mdx allele retain a normal lifespan and can survive up to two years. Like human patients who suffer from one of the most common neuromuscular diseases, Duchenne muscular dystrophy (DMD), the Dmd^mdx mutants do not express dystrophin and therefore have been ..... For more information please see the full phenotype on the strain data sheet
002019	NU/J	Level 3
	The two main defects of mice homozygous for the nude spontaneous mutation (Foxn1^nu, formerly Hfh11^nu) are abnormal hair growth and defective development of the thymic epithelium. Although the mice appear hairless, they are born with functional but faulty hair growth follicles. Hair growth cycles and patterns are evident especially in pigmented mice but the faulty follicles do not allow the hair to properly erupt. Homozygous pups can be identified as young as 24 hours by their lack of whiskers or poorly developed, crinkled whiskers. Nude mice are also athymic caused by a developmental failure of the thymic anlage. Consequently, homozygous nude mice lack T cells and suffer from a lack of cell-mediated immunity. However there is not a defect in T-cell precursors, and under the right conditions some functional mature T cells can be found especially in adult mice. Because of a defect in helper T-cell activity, responses to thymus-dependent antigens when d ..... For more information please see the full phenotype on the strain data sheet
001162	B6(C)-H2-Ab1^bm12/KhEgJ	Level 4

000819	B6.Cg-Foxn1^nu/J	Level 4
	The two main defects of mice homozygous for the nude spontaneous mutation (Foxn1^nu, formerly Hfh11^nu) are abnormal hair growth and defective development of the thymic epithelium. Although the mice appear hairless, they are born with functional but faulty hair growth follicles. Hair growth cycles and patterns are evident especially in pigmented mice but the faulty follicles do not allow the hair to properly erupt. Homozygous pups can be identified as young as 24 hours by their lack of whiskers or poorly developed, crinkled whiskers. Nude mice are also athymic caused by a developmental failure of the thymic anlage. Consequently, homozygous nude mice lack T cells and suffer from a lack of cell-mediated immunity. However there is not a defect in T-cell precursors, and under the right conditions some functional mature T cells can be found especially in adult mice. Because of a defect in helper T-cell activity, responses to thymus-dependent antigens when ..... For more information please see the full phenotype on the strain data sheet
000482	B6.MRL-Fas^lpr/J	Level 4
	Mice homozygous for the lymphoproliferation spontaneous mutation (Fas^lpr) show systemic autoimmunity, massive lymphadenopathy associated with proliferation of aberrant T cells, arthritis, and immune complex glomerulonephrosis. Onset and severity of symptoms associated with the Fas^lpr allele is strain-dependent. For example, lymphoproliferation varies greatly with congenic strain C57BL/6J-Fas^lpr/Fas^lpr at a 24 fold increase over control lymph node weight, MRL/Mp-Fas^lpr/Fas^lpr at 75 fold and congenic strain C3H/HeJ-Fas^lpr/Fas^lpr highest at 116 fold increase over control lymph node weight (Morse et al 1985). Variance in renal pathology ranks from extensive in MRL/Mp-Fas^lpr/Fas^lpr at 4 to 7 months to negligible at 14 to 16 months in mice with C57BL/6J and C3H/HeJ backgrounds and homozygous for Fas^lpr> ..... For more information please see the full phenotype on the strain data sheet
100409	B6129PF1/J-A^w-J/A^w	Level 4

001021	B6Smn.C3-Fasl^gld/J	Level 4
	Mice homozygous for the Fasl^gld mutation display lymphadenopathy and systemic autoimmunity similar to that in Fasl^lpr homozygous mice. There is significant enlargement of all lymph nodes to 50 times the control weight by 20 weeks of age. Homozygotes also have an enlarged spleen, greatly increased numbers of T, B, and null lymphocytes and develop immune complex glomerulonephrosis. Onset of symptoms is dependent on genetic background with the C3H/HeJ strain having the earliest onset exhibiting glomerulonephritis by 22 weeks. In an attempt to offer alleles on well-characterized or multiple genetic backgrounds, alleles are frequently moved to a genetic background different from that on which an allele was first characterized. This is the case for the strain above. It should be noted that the phenotype could vary from that originally described. We will modify the strain description if necessary as published results become available. The Cryaa ..... For more information please see the full phenotype on the strain data sheet
000051	C57BL/6J-A^w-J/J	Level 4
	Mice are agouti (hairs are black with a subapical yellow band) with a cream or white belly. Females may be used as foster mothers for ovary transplantation of mutations maintained in a/a strains because A^w-J is dominant to the nonagouti a. Since a to A^w is a common mutation, strains possessing this mutation in laboratory stock may not be of a common origin.
000049	C57BL/6J-Kit^W-v/J	Level 4
	Kit mice possess pleiotropic defects in pigment-forming cells, germ cells, RBC's and mast cells. In addition, they exhibit impaired resistance to parasitic infection and an intrinsic progenitor cell defect. 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.
000668	C57L/J	Level 4
	C57L/J mice are used widely in research as a general purpose strain. Mice have a high incidence of Hodgkin's-like reticulum cell neoplasm at 18 months of age and pituitary tumors in old multiparous females. C57L/J mice are highly susceptible to experimental allergic encephalomyelitis (EAE) and highly responsive to phytohemagglutinin. In addition, C57L/J mice are highly susceptible to developing atherosclerotic aortic lesions (4500 to 8000 um² atherosclerotic aortic lesions/aortic cross-section) following 14 weeks on an atherogenic diet (1.25% cholesterol, 0.5% cholic acid and 15% fat) (Paigen et al. 1990). On a lithogenic diet, C57L/J mice develop gallstones as a result of abnormal regulation of cholesterol synthesis (Xua et al. 2004). C57L/J mice carry no detectable endogenous ecotropic MuLV DNA sequences.
007850	J:NU	Level 4
	Outbred homozygous nude (Foxn1^nu/Foxn1^nu) mice are the standard in vivo model for drug efficacy testing in oncology. Nude mice are athymic and hairless as a result of the recessive nu mutation. T cell precursors exist but development is blocked in the absence of a thymus, resulting in an immunodeficiency that permits transplantation of tumor cell xenografts. Homozygous females are poor breeders and fail to lactate. Heterozygous males and females breed well and have normal immune function. Homozygous pups can be identified as young as 24 hours by their lack of whiskers or poorly developed, crinkled whiskers.
000485	MRL/MpJ-Fas^lpr/J	Level 4
	Mice homozygous for the lymphoproliferation spontaneous mutation (Fas^lpr) show systemic autoimmunity, massive lymphadenopathy associated with proliferation of aberrant T cells, arthritis, and immune complex glomerulonephrosis. Starting at about three months of age, levels of circulating immune complexes rise greatly in the MRL-lpr/lpr mouse but not the MRL normal (Hewicker 1990). Onset and severity of symptoms associated with the Fas^lpr gene is strain-dependent. For example, lymphoproliferation varies greatly with congenic strain C57BL/6J-Fas^lpr/Fas^lpr at a 24 fold increase over control lymph node weight, MRL/Mp-Fas^lpr/Fas^lpr at 75 fold and congenic strain C3H/HeJ-Fas^lpr/Fas^lpr highest at 116 fold increase over control lymph node weight (Morse et al 1985). Variance in renal pathology ranks from extensive in MRL/Mp-Fas^lpr> ..... For more information please see the full phenotype on the strain data sheet
000692	WB/ReJ Kit^W/J	Level 4
	Kit mice possess pleiotropic defects in pigment-forming cells, germ cells, RBC's and mast cells. In addition, they exhibit impaired resistance to parasitic infection and an intrinsic progenitor cell defect. The lack of germ cells in homozygous mutant mice leads to the development of some ovarian tumors (mesotheliomas and granulosa cell), associated with an overproduction of pituitary gonadotropic hormone.
100410	WBB6F1/J-Kit^W/Kit^W-v	Level 4
	Kit mutant mice possess pleiotropic defects in pigment-forming cells, germ cells, RBC's and mast cells. In addition, they exhibit impaired resistance to parasitic infection and an intrinsic progenitor cell defect. 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. Kit^W/Kit^W-v double heterozygotes are viable but sterile because of germ cell deficiency. They are also mast cell deficient. Kit^W/Kit^W-v double heterozygotes lack intermediate cells, derived from melanoblasts, in the stria vascularis resulting in endocochlear degeneration, loss of endocochlear potential, and hearing impairment.
014134	129/Sv-Maoa^K284stop Maob^tm1Shih/J	Repository- Live
	This strain carries two mutant alleles, a knockout of the X-linked monoamine oxidase B (Maob) gene and a spontaneous mutation designated Maoa^K284stop in the monoamine oxidase A (Maoa) gene. The two mutations lie 24kb apart. MAO A/B deficient mice are viable, fertile, and normal in size. Maoa and Maob are mitochondrial enzymes which oxidize neurotransmitters and dietary amines. These mutants lack both MAOA and MAOB activity in the brain and liver resulting in increased levels of phenylethylamine, serotonin, dopamine, and norepinephrine. These mice exhibit increased reactivity to stress and increased aggression. These mice may be useful for studying MAOA and MAOB-related behaviors and disorders.
014103	129;FVB-Tmem79^m1J/GrsrJ	Repository- Live
	Homozygotes can be identified by 7 to 8 days of age. They have a slightly shiny, off-white coat color with sparse hair, and some adults develop an irritation around the eyes. The zigzag hairs are abnormal, having extra kinks.
006859	129X1/SvJ-Lamc2^jeb/DcrJ	Repository- Live
	Mice that are heterozygous for this mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. Northern blot analysis of skin from homozygotes detects the wildtype and a dominant larger sized mutant gene product (mRNA). Homozygotes express a reduced level of gene product (protein), as detected by Western blot analysis of keratinocytes. Mean onset of progressive skin blistering disease in homozygotes on the 129X1 background is age 154 days. Homozygotes exhibit ulcerated lesions and tissue granulation in ear skin, which develops into deformed pinna; ulcerated lesions in the footpads and tail. Thickened epidermis (hyperplasia) and subepidermal separation, with little to no inflammation, occurs in the skin of the footpads and tail. Ultrastructural analysis of skin with electron microscopy reveals that the dermal-epidermal separation occurs at the lamina lucida.
006246	A/J-sunk/GrsrJ	Repository- Live
	Mice homozygous for the sunken mutation are small and have severe kyphosis with the abdomen appearing sunken in.
012856	A;C-Relb^shep/GrsrJ	Repository- Live

008657	AKR/J-agil^2J/J	Repository- Live
	Homozygotes display an abnormal, wobbling gait by 2 weeks of age and are smaller than control littermates. At 3 weeks of age dystrophic axons and vacuoles are found in the spinal cord, white matter, cerebellar peduncles, and eighth cranial nerve root.
011128	B10.SJL-Dysf^im/AwaJ	Repository- Live
	Mice that are homozygous for this mutation exhibit a progressive muscular dystrophy characterized by myofiber degeneration and increased fibrosis. Disease onset on the C57BL/10 background is apparent by 4 weeks of age and is severe by 8 months of age, although, mice can survive until 19 months. During the late stage of the disease muscles exhibit fatty and fibrotic tissue as well as inflammatory cells. Affected muscles include the proximal limbs, (quadriceps femoris and triceps brachii) and abdominals. The distal limbs, (gastocnemius, soleus, and tibialis anterior), diaphram, and biceps brachii appear to be only mildly affected even in the late stages of the disease. Both pyruvate and creatinine kinase levels are increased. Regeneration following notexin-induced muscle damage is impaired by delayed removal of necrotic fibers and an extended inflammatory period. This mutant mouse strain may be useful as a model of limb-girdle muscular dystrophy type 2B (LGMD2B) and Miyoshi myopath ..... For more information please see the full phenotype on the strain data sheet
004742	B6(Cg)-Ncf1^m1J/J	Repository- Live
	Peritoneal neutrophils and macrophages, bone marrow cells and neutrophils isolated from bone marrow of mice homozygous for Ncf1^m1J fail to produce superoxide upon stimulation in vitro with N-formyl-methionyl-leucyl-phenylalanine (fMLP) or phorbol 12-myristate 13-acetate (PMA), as determined by kinetic spectrophotometric analysis of cytochrome c reduction. Western blot analysis detected no full-length NCF1/p47^phox protein in cells from these mice; a faint band of slightly smaller molecular size than the wild type NCF1 protein was observed on probing with antibodies to NCF1. To exclude the possibility that the NCF1 protein is produced in cells of mutant mice but is degraded rapidly by endogenous proteases, bone marrow cells were isolated and samples prepared for western blot analysis in the presence of diisopropyl fluorophosphate (DFP); no difference was observed upon analysis of freshly prepared cell lysates made with and without DFP, indicatin ..... For more information please see the full phenotype on the strain data sheet
001934	B6(D2)-Lmna^Dhe/TyGrsrJ	Repository- Live
	Heterozygotes are slightly smaller than normal and develop a sparse, graying, scruffy coat. They have short ear pinnae, an underdeveloped lower jaw, malocclusion, protruding eyes, and low bone mineral density. The skulls are small and disproportionate, and the cranial sutures fail to close. Females can have decreased fertility, but males do not. Males have diminished total body fat. Homozygotes die by approximately 10 days of age, have dysplastic, ulcerated skin and oral mucosae, and a more severe deficiency in skull growth and mineralization.
005717	B6(NOD) H2^g7-Sostdc1^shk/J	Repository- Live
	Mice homozygous for the sharkey mutation on this predominantly C57BL/6J background have both upper and lower supernumerary incisors with separate roots for the extra teeth. When outcrossed to CAST/EiJ the F2 only have upper supernumerary incisors.
008451	B6.129P(Cg)-Ptprc^a Cx3cr1^tm1Litt/LittJ	Repository- Live
	Mice that are homozygous for the CX3CR1-GFP targeted mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. RT-PCR analysis of lymphoid tissue from homozygotes detects mutant gene product (mRNA) and no wild type gene product (mRNA). Flow cytometric analysis of peripheral blood cells identified a subset of green fluorescent cells not observed in wild type mice. Enhanced Green Fluorescent Protein (EGFP), but not the endogenous gene, is expressed in monocytes, dendritic cells, NK cells, and brain microglia, mimicking endogenous gene expression. The same subset of peripheral blood cells isolated from heterozygote mice express detectable levels of EGFP. Immunohistochemical analysis of spleen and peripheral nerve tissue from homozygotes does not detect EGFP. These mice also express the CD45.1 (Ly5.1 or Ptprc^a) allele, which is atypical for the C57BL/6 congenic background, and this marker may be used to track donor cell popul ..... For more information please see the full phenotype on the strain data sheet
016883	B6.B10(D2)-Grm6^nob3/Boc	Repository- Live
	Although retinal sections are histologically normal, electroretinogram assessment of homozygotes shows near-normal a-wave but absent both scotopic and photopic b-waves. The contrast sensitivity and spatial frequency thresholds are reduced. Retinal ganglion cell ON responses have a longer latency than normal and fewer retinal ganglion cells respond to the bright phase of a full-field stimulus. There are fewer OFF-center retinal ganglion cells that have an ON response to a full-field stimulus, which is distinct from findings in mice homozygous for the no b-wave 4 (nob4) allele.
007227	B6.B10ScN-Tlr4^lps-del/JthJ	Repository- Live
	This spontaneous mutation is a 7 kb deletion in the Tlr4 gene, which results in absence of both mRNA and protein and thus exhibits a defective response to LPS stimulation. The functionally similar Tlr4^Lps-d mutation found in C3H/HeJ mice is a point mutation that causes an amino acid substitution. The allele for normal LPS response, Tlr4^lps-n, occurs in most other C3H and C57BL/10 substrains and most mouse strains. This strain may be used to study the Toll signalling pathway and susceptibility to Gram-negative bacterial infection.
000537	B6.BR-Agtpbp1^pcd/J	Repository- Live
	Mice homozygous for the Purkinje cell degeneration spontaneous mutation (Agtpbp1^pcd) show a moderate ataxia beginning at 3 to 4 weeks. Homozygous mutant mice are somewhat smaller than normal but may live a fairly normal life span. Males have abnormal sperm and are sterile. Females are fertile but are poor breeders. There is rapid degeneration of nearly all Purkinje cells beginning at 15 to 18 days, and a slower degeneration of the photoreceptor cells of the retina and mitral cells of the olfactory bulb. Degeneration of Purkinje cells is followed by partial loss of granule cells. Discrete serotonin-immunoreactive fibers, which ascend to all three layers of the cerebellar cortex in normal controls, are of much higher density and form multidirectional contours in homozygotes. In the retina of homozygous mutant mice, pycnotic nuclei begin to appear in the photoreceptor cells between 18 and 25 days, and the outer rod segments become disorganized. Degeneration of the photor ..... For more information please see the full phenotype on the strain data sheet
004684	B6.Cg Nos2^tm1Lau-chtl/GrsrJ	Repository- Live
	This mutant has an overall lighter coat, tail and ears than a black +/+ control. Both males and females breed and it is maintained as a homozygous stock.
008599	B6.Cg-Cyp1a2/Cyp1a1^tm2Dwn Ahr^d Tg(CYP1A1,CYP1A2)1Dwn/DwnJ	Repository- Live
	These "humanized" hCYP1A1_1A2_Cyp1a1/1a2(-/-)_Ahr^d mice carry the human CYP1A1 and CYP1A2 genes in the absence of functional mouse Cyp1a1 and Cyp1a2 orthologs, and also mimic the human poor-affinity aryl hydrocarbon receptor (AHR) by carrying the poor-affinity Ahr^d allele derived from DBA/2J mice (rather than the high-affinity Ahr^b1 allele normally present on a C57BL/6J genetic background); all on a C57BL/6J (reported >99.8%) genetic background. Mice homozygous for the Cyp1a2/Cyp1a1 targeted allele [Cyp1a1/1a2(-/-)], homozygous for the Ahr^d allele, and carrying the hCYP1A1_1A2 transgene are viable and fertile with normal lifespan. As the Cyp1a2/Cyp1a1(-) targeted allele lacks the coding regions of both Cyp1a1 and Cyp1a2 genes, no mouse CYP1A1 or CYP1A2 mRNA expression is observed in liver, lung or kidney. Transgene expression of the orth ..... For more information please see the full phenotype on the strain data sheet
014632	B6.Cg-Fbn1^Tsk/J	Repository- Live
	The Fbn1^Tsk allele contains a 30 to 40kb genomic tandem duplication resulting in a larger than normal in-frame transcript. Homozygotes are embryonic lethal, failing to survive past somite formation (7-8 days of gestation). Heterozygotes are viable and fertile, exhibiting excessive growth and hyperplasia of connective tissue, cartilage, tendon sheaths and bone. Skin tightness, due to hyperplasic thickening of subcutaneous loose connective tissue and abnormal organization and distribution of skin microfibrillar arrays, develops by the first week after birth. Although the size of the skeleton is increased, body weight remains normal. Mutant mice exhibit polyuria during the light cycle. Collagens and glycosaminoglycans accumulate in the skin, heart, lungs and bladder. Hypertrophy is also observed in the enlarged heart (aortic adventitia). Mutant mice have enlarged thoracic size and lungs with abnormal alveolar walls, irregular shaped alveoli, and increased lung cap ..... For more information please see the full phenotype on the strain data sheet
006428	B6.Cg-Hydin^hyrh/J	Repository- Live
	Mice homozygous for this spontaneous mutation have smaller bodies and develop hydrocephaly and rhinitis, dying by 3 weeks of age.
013716	B6.Cg-Lhfpl2^vgim/GrsrJ	Repository- Live

013121	B6.Cg-Lootl/GrsrJ	Repository- Live
	The loop tail like mutation is similar to the loop tail mutation of the Vangl2 gene in causing neurodevelopmental defects leading to short, curly tails and spina bifida. There is incomplete penetrance and prenatal and perinatal lethality. Some heterozygous with mild spina bifida survive to adulthood and have bred. Some heterozygous females have closed vaginas.
000528	B6.Cg-Phex^Hyp/J	Repository- Live
	Hypophosphatemia (Phex^Hyp) is an X-linked semidominant mutation that causes defects in phospate metabolism. It is allelic with the gyro mutation (Phex^Gy) but hypophosphatemia mutant mice do not circle. Hemizygous males and heterozygous females can be recognized at 20 to 30 days of age by their shortened hindlimbs and tail. They have reduced body size which persists throughout life, and skeletal changes resembling rickets. Hemizygous males are more affected than heterozygous females. Viability is normal in both sexes, but heterozygous females show better fertility than hemizygous males.
004369	B6.Cg-Rag1^tm1Mom Ins2^Akita/J	Repository- Live
	Mice homozygous for the Rag1 targeted mutation and heterozygous for the Akita spontaneous display the diabetes phenotype in the absence of B and T cells and unlike single Akita mice, double mutants do not reject allografts. Mice heterozygous for only the Akita spontaneous mutation are viable and fertile. (Homozygotes typically die by 12 weeks of age from extreme hyperglycemia.) Symptoms in heterozygous mutant mice include hyperglycemia, hypoinsulinemia, polydipsia, and polyuria, beginning at approximately 3-4 weeks of age. The diabetic phenotype is more severe and progressive in heterozygous males than in females. Obesity and insulitis do not accompany diabetes. This double mutant strain is ideally suited for use in allogeneic or xenogeneic islet or stem cell transplantation protocols because the mice are severely immunocompromised and spontaneously develop diabetes at a young age.
007484	B6.Cg-Tyr^c-2J Tg(Tyr)3412ARpw Tg(Sry-EGFP)92Ei/EiJ	Repository- Live
	On an albino background the X-linked transgene Tg(Tyr)3412ARpw permits visual identification of XX versus XY as early as embryonic day 10.5. This strain is segregating for Tg(Tyr)3412ARpw and homozygous for Tyr^c-2J so the individuals not carrying Tg(Tyr3412)ARpw are albino. Because Tg(Tyr)3412ARpw inserted into the X Chromosome, breeding a carrier male with a noncarrier (wild-type) female results in embryos in which all XX individuals develop eye pigment, due to the Tg(Tyr)3412ARpw inherited from their father, while all XY individuals have non-pigmented eyes, having inherited a wild-type X Chromosome from their mother. This strain is also homozygous for Tg(SryEGFP)92Ei. This reporter transgene consists of a 5 prime regulatory segment of the Sry gene driving EGFP. This transgene is expressed in the pre-support cell lineage (pre-sertoli and pre-granulosa cells) of the fetal genital ridge (Albrecht and Eicher, 2001) and in discrete areas the adult male but not ..... For more information please see the full phenotype on the strain data sheet
008548	B6.Cg-oda/GrsrJ	Repository- Live
	Homozygotes can be identified by two weeks of age on this nonagouti background by their diluted steel grey coat color, which includes dilited pigment in the ears, feet, and tail. Homozygotes are viable and fertile.
010905	B6.Cg-Tg(Sry)2Ei Sry^dl1Rlb/ArnoJ	Repository- Live
	The dl1Rlb allele (Y^-) is an 11 kb deletion in the sex determining region of the Y chromosome, Sry , XY^- mice (with ovaries) with this mutation are phenotypic gonadal females, although they lose germ cells and cease estrous cycling earlier in life. The donating investigator indicates that XY^- mice generally infertile on the C57BL/6 background . XX mice carrying the Tg(Sry)2Ei transgene are phenotypic gonadal males (with testes), although they lack sperm and have smaller testes than normal males. When the two mutations are combined, testis determination is transferred from the Y chromosome to an autosome. Mating the carrier male to a C57BL/6J female produces four "core" genotypes that can be used as a model to investigate relationships between sex chromosome complement (XX or XY) and gonadal type that influences phenotypic characteristics. The four genotypes produced are two types of gonadal females (XX, XY^-), and two types ..... For more information please see the full phenotype on the strain data sheet
002504	B6.D2-Pmp22^Tr-J/J	Repository- Live
	Mice heterozygous for the trembler-Jackson spontaneous mutation (Pmp22^Tr-J) are similar to heterozygotes carrying the original trembler mutation (Pmp22^Tr). However, the behavior and neuropathology of trembler-Jackson heterozygotes is less severe. The tremor phenotype cannot be reliably recognized before 20 to 25 days. There are no obvious seizures and only a mild gait abnormality. In the PNS, the myelin deficiency is considerably less severe than that of trembler mice. Homozygous trembler-Jackson mice are recognizable by 8 days of age after which they become progressively disabled. Homozygous mutant mice are unable to walk normally and can right themselves only with great difficulty; most are dead by 18 days. It should be noted that although trembler homozygotes are more severely demyelinated than trembler-Jackson homozygotes, the trembler mice live a normal lifespan while trembler-Jackson mice die prior to weaning. Survival of trembler homozygotes ..... For more information please see the full phenotype on the strain data sheet
003923	B6.HRS(BKS)-Cpe^fat/J	Repository- Live
	Mice homozygous for the fat spontaneous mutation (Cpe^fat) on a C57BL/6J genetic background (N10) become noticeably obese by 14-15 weeks of age. There is also some sexual dimorphism; female homozygous mutant mice develop obesity at a later age than males. Cpe^fat mice actually weigh less than wildtype controls prior to weaning age. Homozygous mutant mice develop a diabetic phenotype characterized by hyperglycemia and insulin resistance. Cpe^fat mice appear healthier on the C57BL/6J genetic background, avoiding the hereditary hydronephrosis present in C57BLKS/J and a lower incidence of malocclusion.
000524	B6.WK-Lama2^dy-2J/J	Repository- Live
	Mice homozygous for the dystrophia-muscularis spontaneous mutations (Lama2^dy and Lama2^dy-2J) are characterized by progressive weakness and paralysis beginning at about 3 1/2 weeks of age. The hindlimbs are affected first, later the axial and forelimb musculature. Death usually occurs before 6 months of age, and mutant mice are usually sterile. Skeletal muscle shows degenerative changes with proliferation of sarcolemmal nuclei, increase in amount of interstitial tissue, and size variation among individual muscle fibers. In the dorsal and ventral roots of the peripheral nerves, both spinal and cranial, Schwann cells fail to separate and ensheathe axons so that groups of closely apposed naked axons, normally seen only in early stages, persist into adulthood. In the rest of the PNS, the basement membrane of Schwann cells is interrupted by gaps, the internodal gap in the nodes of Ranvier is lengthened, and there is delayed onset of myelination with fewer ..... For more information please see the full phenotype on the strain data sheet
010563	B6;129-Xpc^tm1Ecf/J	Repository- Live
	Mice that are homozygous for the targeted mutation are viable, fertile, and normal in size. No gene product (mRNA) is detected by Northern blot analysis using an exon 11-15 probe of MEFs from homozygotes. A truncated transcript is detected when an exon 7-10 probe is used. MEFs from homozygotes are more sensitive to UV radiation cytotoxicity and exhibit impaired DNA repair. Homozygous mice are more susceptible to skin cancer after UVB radiation exposure and to liver and lung cancer after chemical carcinogen (acetylaminofluorene) exposure. Homozygotes develop lung tumors as early as 6 months of age. By 16-17 months of age all homozygotes have lung tumors. Most classified as adenomas, some as adenocarcinomas and all were Non-small Cell Lung Cancers (NSCLCs). A few tumors progress to malignant metatstatic adenocarcinoma. Heterozygotes exhibit an increased predisposition to skin cancer after exposure to UVB radiation when compared to wild-type controls. This mutant mouse strain may be usefu ..... For more information please see the full phenotype on the strain data sheet
002717	B6;C-Cntn1^m1J/GrsrJ	Repository- Live
	Mice homozygous for the Cntn1^m1J mutation are smaller than their wild-type littermates by 4 to 7 days of age, and appear emaciated by 2 weeks of age. They are ataxic, most die by 18 to 20 days of age, and all die by 30 days of age. Histological assessment found normal neuromuscular junctions, normal Purkinje cell dendritic arborization, and no morphological anomalies in brain. The twitch and titanic force generated by excised extensor digitorum longus muscles was found to be normal when normalized for the muscle weight of these smaller mutants. Necropsies showed pale livers, little food in the stomachs, and gas bubbles in the intestines.
000231	B6;C3Fe a/a-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.
005956	B6;D1Lac-Scd1^ab-2J/J	Repository- Live
	The overall appearance of mice homozygous for either the Scd1^ab-J allele or the Scd1^ab-2J allele (Stock No. 002304 or 005956) includes slightly hunched posture, dry, scaly skin, thin fur sometimes detectable by 7 days of age, and small eyes with encrusted eyelids stuck shut. They have hypoplasia of the sebaceous glands and other hair follicle abnormalities that result in scarring alopecia. These mice have a paucity of adipose tissue, thin subcutis, and a distinctive odor. Hepatic cholesterol ester and triglyceride synthesis has been shown to be deficient in Scd1^ab-J homozygotes and could not be restored through diet. Early studies of skin lipids in the original asebia mutant (Scd1^ab) revealed a deficiency in wax esters, wax diesters, and sterols esterified with very long-chain fatty acids along with an in ..... For more information please see the full phenotype on the strain data sheet
000235	B6C3Fe a/a-Reln^rl/J	Repository- Live
	Mice homozygous for the reeler (Reln^rl) mutation exhibit an ataxic gait, dystonic posture and tremors starting around 2 weeks of age. These mutants are incapable of maintaining their hindquarters upright and often fall over during locomotor activity. Moreover, viability and fertility are greatly reduced, especially when the gene is carried on an inbred genetic background. Heterozygotes are visually indistinguishable from wildtype controls. Neuropathies characteristic of Reln^rl/Reln^rl mutants include a failure of neuronal layer formation in laminated brain regions during development. Neuronal positioning is abnormal within cerebellar, cerebral and hippocampal cortices. The behavioral phenotype is primarily attributed to the severe hypoplasia of the cerebellum, which lacks foliation. Here, there are reduced numbers of granule and Purkinje cells and these cells are aberrantly dispersed among the layers. In the Reln-deficient neo ..... For more information please see the full phenotype on the strain data sheet
000314	B6CBACa A^w-J/A-Eda^Ta/J-XO	Repository- Live
	XO or monsomy X mice lack a second sex chromosome. The condition is inherited as an X-linked dominant trait with male lethality. XO mice exhibit some degree of growth retardation, high frequency hearing loss, reduced thyroid activity, reduced body temperature and some behavioral abnormalities. Unlike Turner Syndrome in humans, XO females are fertile. The two-step mating system for this strain (described under Mating System) incorporates the X-linked coat color marker tabby so that mice can be identified by a combination of coat color and sex. This strain may be useful for studies of Turner Syndrome or X-linked recessive alleles.
000501	B6CBACa A^w-J/A-Aifm1^Hq/J	Repository- Live
	Harlequin mice exhibit paucity of fur resulting in near baldness in hemizygous males and homozygous females. Heterozygous females have a patchy absence of hair that is not always obvious, since the degree of hair loss is notably less than 50%. Homozygotes and hemizygous males weigh less than heterozygous or wild type controls. Ataxia is noticeable by 5 months and progresses as the mice age. Initially the ataxia manifests itself as a side-to-side, unsteady gait with a lateral tremor visible at rest. A delayed cerebellar cortical atrophy has been characterized in these mutants, with an apoptotic loss of granule cells beginning at 4 months of age and a necrotic loss of Purkinje cells occurring subsequently. The granule cells re-enter the cell cycle, but the Purkinje cells do not, supporting the postulate that inappropriate cell cycle re-entry of terminally differentiated neurons can induce apoptosis. Cell loss is greater in the caudal lobules of the cerebellum and is extensive by 9 to 11 ..... For more information please see the full phenotype on the strain data sheet
001201	B6CBACaF1/J-A^w-J/A	Repository- Live

006449	B6Ei.P-Ass1^fold/GrsrJ	Repository- Live
	At 1 week of age fold homozygotes lack hair such that they can be distinguished from their control littermates, and at 2 weeks of age fold homozygotes have wrinkled skin. A sparse coat does grow in. Homozygotes are smaller than littermate controls throughout their lives and most die at 3 weeks of age.
003544	B6Ei;AKR-rhg/J	Repository- Live
	Homozygotes are much smaller than their wildtype littermates at birth and hair development is retarded at 3 weeks of age, but similar to normal by 10 weeks of age.
000391	B6EiC3Sn a/A-Pax6^Sey-Dey/J	Repository- Live
	Mice homozygous for the spontaneous semidominant Dickie's small eye mutation(Pax6^Sey-Dey) die during embryogenesis. Heterozygous mutant mice are characterized by an overall small body size, small eyes with coloboma, small or lacking lens with cataract, abnormal folding of the retina and reduction of the pigment layer. The anterior chamber is usually missing. Mutations in the Pax6 gene lead to an impairment of axonal growth and differentiation, and delay migration of preneuronal cells. Optic nerve cross-sectional area and fiber count are decreased in these mutant mice, but probably indirectly as a consequence of reduced neural retina size. Formation of lens and of nasal cavity placodes are dependent on normal Pax6 expression.
012866	B6N.DDD-plt/NknoJ	Repository- Live
	Homozygous C57BL/6-plt mice are viable and fertile, harboring the spontaneous plt (or "paucity of lymph node T cells") deletion of both the Ccl19 and Ccl21a loci on chromosome 4. Lack of expression of these two CCR7 ligands in the secondary lymphoid organs results in abnormal leukocyte migration and impaired immune response. Specifically, homozygous mice have disrupted trafficking/homing of T cells and dendritic cells to lymphoid tissues. No reported abnormalities in B cell distribution/cellularity are reported for homozygous mice. Transient migration of antigen-stimulated B cells in lymphoid organs (which facilitates B cell/helper T cell interactions) is also impaired in homozygous mice. Homozygous mice exhibit mature single-positive thymocyte arrest in the thymic cortex that results in defective formation of the medullary region of the thymus. Thymic export of T cells in these mice is compromised during the neonatal period but not in adulthood. While C ..... For more information please see the full phenotype on the strain data sheet
003237	BALB/cByJ-Agtpbp1^pcd-3J/J	Repository- Live
	Mice homozygous for the Purkinje cell degeneration 3 Jackson spontaneous mutation (pcd^3J) have an external and histological phenotype that is very similar to the original Purkinje cell degeneration mutation (pcd). Homozygous pcd mutant mice show a moderate ataxia beginning at 3 to 4 weeks, are somewhat smaller than normal but may live a fairly normal life span. Males have abnormal sperm and are sterile. Females are fertile but are poor breeders. There is rapid degeneration of nearly all Purkinje cells beginning at 15 to 18 days, and a slower degeneration of the photoreceptor cells of the retina and mitral cells of the olfactory bulb. Degeneration of Purkinje cells is followed by partial loss of granule cells. Discrete serotonin-immunoreactive fibers, which ascend to all three layers of the cerebellar cortex in normal controls, are of much higher density and form multidirectional contours in homozygotes. In the retina of homozygous mutant mice, pycnotic ..... For more information please see the full phenotype on the strain data sheet
005412	BALB/cByJ-Fgfr1^Eask/GrsrJ	Repository- Live
	The ear askew mutation is homozygous embryonic lethal. Heterozygotes have unilateral or bilateral low-set ears and malformed pinna. There is variable expressivity. Heterozygotes are viable and fertile, but auditory brainstem response assessment shows severe hearing loss at 6 months of age.
001592	BALB/cByJ-Lpin1^fld/J	Repository- Live
	The original fld (fatty liver dystrophy) mutation arose spontaneously at The Jackson Laboratory in the Animal Resources BALB/cByJ colony in 1981, and was maintained by sibling mating for 47 generations, then backcrossed once in 2001 to a male BALB/cByJ via homozygous ovarian transplant, then sibling mating resumed. Homozygotes can be identified soon after birth by an enlarged, pale liver and smaller overall body size. Although the hepatic steatosis resolves to normal at wean age, a neurological phenotype manifests by day 14 as a tremor and an unsteady gait which is most pronounced in the rear legs (Sweet et al. 1988). Both phenotypes stem from improper cellular processing of lipid. fld/fld mice are smaller than their normal littermates by three days of age and remain smaller throughout life. Hair growth is retarded and abnormal resulting in a ruffled, unkempt appearance in the adult. Homozygotes experience increased mortality between 19 and 35 days of age. A ..... For more information please see the full phenotype on the strain data sheet
002169	BALB/cByJ-Mtap7^mshi/J	Repository- Live
	Mice homozygous for the male sterility and histoincompatibility spontaneous mutation (Mtap7^mshi) are characterized by reduced testis size and sterility. The testes are highly disorganized and appear to have a block in the regulation of male germ cell proliferation. Reproduction is normal in homozygous mutant female mice. In addition to the male reproductive defects this mutation also affects histocompatibility in both sexes. Most homozygous mutant mice reject sex-matched skin grafts from BALB/cBy mice.
003794	BALB/cByJ-Nedd4l^andi/EiJ	Repository- Live
	Mice homozygous for the adult nephrogenic diabetes insipidus mutation can often be initially detected by a slight reduction in body size by wean age. By 4 to 6 weeks of age polyuria, polydipsia, and low urine osmolality can be detected and none of these phenotypes are responsive to DDAVP. Histology reveals highly abnormal renal tubules. Homozygotes breed but should not be relied upon to breed for as long as heterozygotes or wild-type BALB/cByJ mice because progressive hydronephrosis develops.
002167	BALB/cJ-Cst6^ichq/J	Repository- Live

012624	BALB/cJ-Pld4^thss/GrsrJ	Repository- Live
	Homozygotes are smaller than normal and the coat comes in sparse and fails to fill in even in the adult.
003092	BALB/cNctr-Npc1^m1N/J	Repository- Live
	Mice homozygous for the recessive NIH allele of the Niemann Pick type C1 gene (Npc1^m1N) show a dual deficiency of sphingomyelinase and glucocerebrosidase activity. The overall phenotype resembles the sphingomyelinosis condition seen in mice homozygous for the sphingomyelinosis allele (Npc1^spm, Stock No. 002760). Sphingomyelinosis mutant mice begin to lose weight and to show tremor and ataxic gait at about 7 weeks of age. Weight loss continues and tremor and ataxia become more severe until death at about 12 to 14 weeks of age. The liver and spleen are also enlarged and Purkinje cells in the cerebellum are severely depleted. Sphingomyelin and free cholesterol are markedly elevated in liver and spleen but not in brain. Sphingomyelinosis closely resembles that of human Niemann-Pick Type C disease patients.
008172	BKS(HRS)-Ddr2^slie/JngJ	Repository- Live
	Mice homozygous for this mutation appear normal at birth. By weaning, they exhibit a reduced body mass, gain weight slower and display minor craniofacial abnormalities such as protruding eyes and a shortened snout. Bone mineral content, but not density is reduced in homozygotes. Plasma glucose levels are significantly increased while blood urea nitrogen levels are decreased in homozygotes. By six weeks, it can be seen that homozygous females lack a corpora lutea. By four months, homozygous males exhibit atrophy of spermatogonia, Sertoli and Leydig cells. This mutant mouse strain has characteristics similar to human Levi type dwarfism and may be useful in studies related to dwarfism and infertility.
008340	BKS.Cg-Lepr^db Nos3^tm1Unc/RhrsJ	Repository- Live
	These double mutant mice harbor both the Lepr^db spontaneous mutation and the Nos3 (eNOS) targeted mutation and are congenic on C57BLKS/J genetic background. Mice homozygous for both mutations (called eNOS^-/- C57BLKS/J db/db, eNOS^-/- db/db, or db/db/eNOS-/- double mutant mice) are viable with development of type II diabetes and diabetic nephropathy. The eNOS^-/- C57BLKS/J db/db mice develop type II diabetes with significant obesity and hypertension: while both mutations are associated with insulin resistance, the mutated leptin receptor in db/db mice chiefly accounts for the observed hyperglycemia and defective leptin signaling (leading to persistent hyperphagia and obesity), and the eNOS-deficiency accounts for the moderate systemic hypertension. In addition, eNOS^-/- C57BLKS/J db/db mice exhibit rapid onset and progression of pathologic ..... For more information please see the full phenotype on the strain data sheet
004824	BTBR.V(B6)-Lep^ob/WiscJ	Repository- Live
	Mice homozygous for the obese spontaneous mutation, (Lep^ob commonly referred to as ob or ob/ob) exhibit obesity hyperphagia, a diabetes-like syndrome of hyperglycemia, glucose intolerance, elevated plasma insulin, subfertility, impaired wound healing, and an increase in hormone production from both pituitary and adrenal glands. They are also hypometabolic and hypothermic. The obesity is characterized by an increase in both number and size of adipocytes. Although hyperphagia contributes to the obesity, homozygotes gain excess weight and deposit excess fat even when restricted to a diet sufficient for normal weight maintenance in lean mice. Hyperinsulinemia does not develop until after the increase body weight and is probably the result of it. Homozygotes do have an abnormally low threshold for stimulation of pancreatic islet insulin secretion even in very young preobese animals. As is the case with mice carrying the diabetes mutation (Lepr^db ..... For more information please see the full phenotype on the strain data sheet
000029	BXD29-Tlr4^lps-2J/J	Repository- Live
	The BXD RI strains are used to study the genetics of behavioral phenotypes including alcohol and drug addiction, stress, and locomotor activity. The BXD set of RI strains also are used in the genetic analysis of numerous complex or potentially complex physiologic phenotypes including differences in organ weight and bone mineral density. The strain distribution pattern (SDP) for BXD RI strains is available through the Mouse Genome Informatics Recombinant Inbred Strain Distribution Patterns Query Form. This subline of BXD29/Ty is homozygous for the mutation defective lipopolysaccharide response 2 Jackson, which arose spontaneously in the parental strain. The non-mutant parental strain is available as stock number 010981.
001768	C3.Cg-Irs1^Sml H2^b/GrsrJ	Repository- Live
	The small mutation causes hyperinsulinemia with only mild insulin resistance, a paucity of body fat, deficiencies in bone development and homeostasis, and hearing loss. Homozygotes can be distinguished by 2 weeks of age by their smaller body size and thin short tails, and adult homozygotes are visibly smaller with a tail that is 20% shorter than in wild-type controls. Hearing loss was shown through increased ABR threshold values when assessed between 8 and 12 weeks of age. The skeletal defects include shortened femurs with smaller growth plates, decreased cortical and trabecular thickness and abnormal trabecular number, with an increase in the number of osteoclasts and osteoblasts per bone perimeter but impaired osteoblast proliferation and differentiation in culture. This spontaneous point mutation is semidominant in some aspects of phenotype, unlike targeted mutations of this gene. Heterozygotes are statistically smaller than wild-type controls, but the severity of dwarfing is not ..... For more information please see the full phenotype on the strain data sheet
000480	C3.MRL-Fas^lpr/J	Repository- Live
	Mice homozygous for the lymphoproliferation spontaneous mutation (Fas^lpr) show systemic autoimmunity, massive lymphadenopathy associated with proliferation of aberrant T cells, arthritis, and immune complex glomerulonephrosis. Onset and severity of symptoms associated with the Fas^lpr allele is strain-dependent. For example, lymphoproliferation varies greatly with congenic strain C57BL/6J-Fas^lpr/Fas^lpr at a 24 fold increase over control lymph node weight, MRL/Mp-Fas^lpr/Fas^lpr at 75 fold and congenic strain C3H/HeJ-Fas^lpr/Fas^lpr highest at 116 fold increase over control lymph node weight (Morse et al 1985). Variance in renal pathology ranks from extensive in MRL/Mp-Fas^lpr/Fas^lpr at 4 to 7 months to negligible at 14 to 16 months in mice with C57BL/6J and C3H/HeJ backgrounds and homozygous for Fas^lpr> ..... For more information please see the full phenotype on the strain data sheet
001428	C3Fe.SWV-Mbp^shi/J	Repository- Live
	Mice homozygous for the shiverer spontaneous mutation (Mpb^shi) show a generalized tremor during locomotion from 12 days of age. This shivering increases in severity with age, and there is incoordination of the hindlimbs. Post-weaning mice undergo seizure-like attacks during which they may lie rigid and motionless for many seconds. Homozygotes are noticeably smaller than their littermates by 4 weeks of age and their life span is shortened. They usually die between 50 and 100 days of age, often while undergoing an attack. They are fertile but do not breed well. There is a severe myelin deficiency throughout the CNS, and a moderate hypomyelination in the PNS. Occasional regions of normal appearing myelin are found throughout the CNS. Heterozygous mice behave normally and have structurally normal myelin but produce only half the normal amount of MBP in both CNS and PNS. Myelin deficient (Mbp^shi-mld) homozygotes closely resemble shiverer mice in behavior, ..... For more information please see the full phenotype on the strain data sheet
006038	C3H/HeDiSn-Dscam^2J/GrsrJ	Repository- Live
	Mice homozygous for the Dscam^2J mutation can be identified as early as 2 days of age resting on their backs instead of their stomachs and struggling to maintain balance. They develop overt thoracic kyphosis and a domed skull and appear to walk on their toes. Homozygotes fail swim tests wherein they are unable to swim in a straight line, curl up their bodies, and sink to the bottom. However, they have normal auditory brain stem responses indicative of normal cochlear hair cell function and connectivity. Degeneration of spinal joints, dystrophic axons in the lumbar spinal cord and small areas of degenerating epaxial skeletal muscle are found in aging homozygotes. On this background, in the presence of the Pde6b^rd1 mutation, the inner nuclear layer and retinal ganglion layer are disorganized, a phenotype beyond the retinal degeneration inherent in the background. Additionally, the dopaminergic amacrine cells have fasciculated neurites and are orga ..... For more information please see the full phenotype on the strain data sheet
004626	C3H/HeDiSnJ-Vamp1^lew/GrsrJ	Repository- Live
	Mice homozygous for this recessive mutation are recognized by their wasting pre-weaning lethal phenotype, they curl up, waste away and die by 21 days. Mutants do not live to breed but no lesions have been found pathologically.
004780	C3H/HeJ-agil/GrsrJ	Repository- Live
	Mice homozygous for this recessive mutation are recognized by 15 days of age by their shaky, unsteady, wobbly gait. Mutants die around three weeks of age. The agitans-like mutation maps to Chromosome 14 between D14Mit39 and D14Mit115 which are near the neurological mouse mutation agitans (ag). The agitans mutants exhibit a similar phenotype.
006247	C3H/HeJ-sevr/GrsrJ	Repository- Live
	Mice homozygous for the severe runting mutation can be identified by their unusually small body size by approximately 2 weeks of age. Many homozygotes die by wean age and slight tremors are often observed before death.
004476	C3H/HeJ-snol/GrsrJ	Repository- Live
	The snol homozygous mutant phenotype includes a short nose, odd face and body shape, and kinked tail. Most mutants also get malocclusion and two homozygous mutants tested at 49 days of age exhibited intermediate hearing loss ( about 25 dB above normal). The odd shape of the face can be used to distinguish the Homozygotes by 14 days of age. snol has been mapped to Chromosome 4. The most likely gene order places the mutation between D4Mit12 and D4Mit203 in 92 tested meioses. A short nosed mutation, snubnose (sno), maps in this location, but could not be tested for allelism because it is believed to be extinct. The spina bifida occulta reported in sno homozygotes is not seen in snol homozygotes.
003752	C57BL/10ScNJ	Repository- Live
	The breeder pair of C57BL/10ScN mice, obtained from NIH, that were the progenitors of all mice of this strain at The Jackson Laboratory were tested by PCR analysis for the spontaneous Il12rb2 mutation described by Poltorak et al. (J. Immunol. 167:2106-2111, 2001) and found to carry only the wild type Il12rb2 allele. C57BL/10ScN mice have a deletion of the Tlr4 gene that results in absence of both mRNA and protein and thus in defective response to LPS stimulation. Tlr4^lps-del differs from the Tlr4^Lps-d mutation of C3H/HeJ mice, a point mutation that causes an amino acid substitution. The allele for normal LPS response, Tlr4^lps-n, occurs in most other C3H and C57BL/10 substrains and most other mouse strains.
003548	C57BL/6-Ins2^Akita/J	Repository- Live
	Mice heterozygous for the Akita spontaneous mutation (Ins2^Akita) are viable and fertile. Symptoms in heterozygous mutant mice include hyperglycemia, hypoinsulinemia, polydipsia, and polyuria, beginning around 3-4 weeks of age. The diabetic phenotype is more severe and progressive in the male than in the female. Obesity or insulitis does not accompany diabetes. Aged mice exhibit gait disturbance and decreased sensory nerve conduction velocity, but do not exhibit learning or memory deficits (Choeiri C et al., 2005). Progressive retinal abnormalities begin as early as 12 weeks after the onset of hyperglycemia. Retinal complications include increased vascular permeability, alterations in the morphology of astrocytes and microglia, increased apoptosis and thining of the inner layers of the retina. (Barber AJ, et al., 2005) The mean lifespan of diabetic male mice on the C57BL/NJcl background (305 days) was significantly shorter than that of nondiabetic males in anothe ..... For more information please see the full phenotype on the strain data sheet
005349	C57BL/6J Tyr^c-2J-awag/GrsrJ	Repository- Live
	awag homozygotes have a distinct tremor when walking. When lifted by the tail these mutant mice do not splay their hind legs out as normal mice do, but instead hold their legs in a bowlegged umbrella manner and arch their backs. Both sexes breed and live a normal life span.
009157	C57BL/6J-Ank1^pale/GrsrJ	Repository- Live
	Pale lethal homozygotes are smaller than normal littermates, have a pale light grey skin color, evident at birth, and most die by one week of age, although some have survived to 3 or 4 weeks of age. Some prenatal lethality is implied by the fact that heterozygous crosses yield fewer than 25% homozygotes.
000533	C57BL/6J-Ghrhr^lit/J	Repository- Live
	Mice homozygous for the little spontaneous mutation (Ghrhr^lit) are characterized by a deficiency in pituitary growth hormone and prolactin and growth retardation. Male mice have reduced fertility and female mice show a delay in lactation.
000629	C57BL/6J-Lyst^bg-J/J	Repository- Live
	Mice homozygous for the beige-J spontaneous mutation (Lyst^bg-J) are identical to the original beige mutation (Lyst^bg). The phenotype closely resembles Chediak-Higashi disease in man and similar conditions in mink and cattle. Abnormal giant lysosomal granules occur in all tissues with granule-containing cells, including granulocytes, lymphocytes, cells of the liver, kidney, central nervous system, pancreas, and thyroid, and the ducts of most glands; in type II pneumocytes; in mast cells; and in retinal pigment epithelium. Granulocytes from beige homozygous mutant mice mice show defective chemotaxis and reduced bactericidal activity. Beige mice are more susceptible than controls to pneumonitis and to various viral, bacterial, and parasitic infections. Natural killer (NK) cells from beige mice exhibit decreased endogenous cytotoxic activity. Beige mice also have a defective cytotoxic T-cell and cytotoxic antibody response to allogeneic tumor cells. Syn ..... For more information please see the full phenotype on the strain data sheet
002469	C57BL/6J-Pax3^Sp/J	Repository- Live
	Mice homozygous for the splotch spontaneous mutation (Pax3^Sp) die at E13 due to neural tube defects. Malformations of homozygous mutant embryos include rachischisis in the lumbosacral region and frequently in the region of the hindbrain. Heterozygous splotch mice show white spotting on the belly and occasionally on the back, feet, and tail. Splotch is a point mutation within intron 3 of the paired homeobox 3 (Pax3) gene on mouse Chromosome 1. The mutation interferes with normal splicing of intron 3 and leads to at least 4 aberrantly spliced mRNAs with exon 4 deleted. The Pax3^Sp mutation also impairs homodimerization of the protein, a function associated with the octapeptide-encoding central segment of the gene. There are multiple alleles at this locus including splotch-delayed (Pax3^Sp-d, Stock No. 000565), which is similar to splotch but displays caudal rachischisis only.
000811	C57BL/6J-Ptpn6^me-v/J	Repository- Live
	Mice homozygous for the viable motheaten spontaneous mutation (Ptpn6^me-v) develop severe autoimmune disease. Characteristics include by granulocytic skin lesions, pneumonitis, impaired humoral and cell-mediated immune responses, decreased responses to T cell and B cell mitogens and deficient cytotoxic T cell and NK cell activity. B cells are LY-1+. Homozygous mutant mice also exhibit hyperimmunoglobulinemia, and express multiple autoantibodies. Macrophages show increased proliferative capacity. In addition to defects in the immune system, viable motheaten mice show classic symptoms of osteoporosis due to an increased number and activity of osteoclasts in the bone marrow. The osteoporosis phenotype includes significantly lower bone mineral density and mineral content in the femurs of viable motheaten mice compared to normal littermate controls. In addition, these mice show reduced amounts of trabecular bone and decreased cortical thickness. The lifespan of homozygo ..... For more information please see the full phenotype on the strain data sheet
005544	C57BL/6J-Robo3^m1J/GrsrJ	Repository- Live
	Homozygotes display impaired balance by wean age. They lean to one side and have difficulty maintaining an upright position, but are fertile and premature death has not been noted. This is a less severe phenotype than that of targeted null mice.
014106	C57BL/6J-bc^8J/GrsrJ	Repository- Live

014105	C57BL/6J-bc^9J/GrsrJ	Repository- Live

004246	C57BL/6J-sbse/J	Repository- Live

010811	C57BL/6J-mt^ALR/LtJ/IbraJ	Repository- Live
	This strain is one of several conplastic strains created to investigate mitochondrial DNA variations on complex traits.
010810	C57BL/6J-mt^FVB/NJ/IbraJ	Repository- Live
	This strain is one of several conplastic strains created to investigate mitochondrial DNA variations on complex traits. The FVB/NJ strain carries an aspartic acid to tyrosine substitution in the mitochondrial mt-Atp8 gene. In behavioral testing, this conplastic strain exhibits increased anxiety as compared to controls. Mice tested in the elevated plus maze spend less time and walk shorter distances in the open arms section of the maze.
004625	C57BLKS/J-Car8^wdl/GrsrJ	Repository- Live
	wdl homozygotes display a side-to-side wobble in their gait as early as two weeks of age and this persists throughout life. Despite this, they can swim in a straight line.
010970	CBA/J-Dab1^scm-4J/GrsrJ	Repository- Live
	Homozygotes can be recognized by two weeks of age by smaller body size, tremor, and leaning side-to-side gait. While some homozygotes die by three weeks of age, most live to adulthood. Poor marrow, thymic atrophy, and disorganization of the neurons of the brain were found in homozygotes.
013084	CBA/J-Dts/GrsrJ	Repository- Live
	Mice heterozygous for the dominant tail short mutation have kinked, shortened tails that range from one quarter to three quarters the length of a normal tail. The number of kinks varies and the average is slightly over 3. This mutant is also prone to hydrocephalus and aberrant cells have been found in the testis. No homozygotes have been identified to date, although predicted Mendelian segregation and complete penetrance is found in heterozygotes.
014084	CBA/J-agil^3J/GrsrJ	Repository- Live
	Mice homozygous for the agitans-like 3 Jackson mutation can be detected by 2 weeks of age by a wobbling gait and the propensity to retract the hind legs when picked up by the tail. They are smaller than their littermates and most die before adulthood. Homozygotes fail to breed.
010822	CByJ(Cg)-dde/GrsrJ	Repository- Live
	dde homozygotes have disproportionate dwarfing evident at birth by shortened limbs, although the axial skeleton appears normal. The back feet have fused toes. Retinal dysplasia presents as white lines in the retina and electroretinaograms show abnormal rod and cone function. Males are sterile and females are poor breeders and poor mothers, often requiring foster mothers to rear the pups. The lifespan of homozygotes varies with some dying shortly after wean and others surviving to approximately one year of age. Ailments identified in homozygotes include emphysema, stomach polyp, apoptitic cells of the tesis, thyroid cysts, holes in the thoracid chord white matter, and holes in the skeletal muscle fibers in the leg. While it has been proposed that dde may offer a model for Walker-Wardburg syndrome, this has not yet been proven.
014182	CByJ.Cg-Fgfr3^m1J/GrsrJ	Repository- Live
	Mice homozygous for the recessive Fgfr3^m1J allele have skeletal deformities that result in kyphosis, scoliosis, and a bent tail, which is often found to exit the pelvis at an abnormal angle. ABR threshold assessment shows hearing loss to the point of deafness at 3 to 4 weeks of age, the earliest age assessed. Male homozygotes display infertility, but females do breed and rear pups. Homozygotes have not been found to have a reduced lifespan, distinct from the reduced lifespan or prenatal lethality found in homozygotes for targeted deletions of this gene.
004070	CByJ.Cg-hml/GrsrJ	Repository- Live
	Homozygotes have a faith-to-thrive phenotype such that they have a smaller body size and unbalanced gait detectable at 10 days of age. Those that survive to 2 months of age can generally live up to 18 months. The inner ear has extensive hypoplasia of the membranous labyrinth, a rudimentary tectorial membrane, and enlarged scala vestibuli and severe hearing loss or complete deafness are found at 19 days of age both by failed response to sounds and auditory brainstem response analysis. Homozygotes also fail to orient in water.
002718	CByJ.Cg-hop/J	Repository- Live
	Mice homozygous for the hop-sterile spontaneous mutation (hop) are viable, females are fertile but males are sterile. Homozygous mutant mice walk with a characteristic hopping gait using the hindlegs simultaneously. There is preaxial polydactyly of both fore- and hindfeet. Defects in spermatogenesis result in abnormal sperm tail development. Tailed sperm are completely absent from the lumen of the testicular tubules. The second meiotic division is frequently abnormal or incomplete, often leaving four centrioles per cell. These centrioles usually fail to form flagella, and tail development is arrested.
000657	CE/J	Repository- Live
	CE/J mice are very responsive to phytohemagglutinin and resistant to amyloid induction and development of amyloidosis. Amyloidosis is the extracellular deposition of the acute phase protein 'serum amyloid A' (SAA), which is induced in response to inflammation. CE/J mice express a single isoform of SAA designated SAA2.2, which is structurally unable to form amyloid fibrils. Viral expression of amyloidogenic proteins in CE/J mice does result in amyloid depostion, making this a useful model to examine the amyloid deposition potential of altered SAA proteins. Early studies by Dr. Margaret Dickie reported that approximately 1/3 of CE females and of reciprocal DBA x CE F1 hybrids were found to have ovarian tumors at 20 months of age. Virgin reciprocal DBA x CE F1 hybrids were found to develop hyperplasia of the uterus and an increased uterine sensitivity to estrogen that increases with age. This pathology results from a hormonal imbalance characteristic of this F1 cross and breed ..... For more information please see the full phenotype on the strain data sheet
001998	CFW-Em/J	Repository- Live

002932	CPt.C3-Fasl^gld/J	Repository- Live
	Mice homozygous for the Fasl^gld mutation display lymphadenopathy and systemic autoimmunity similar to that in Fas^lpr homozygous mice. There is significant enlargement of all lymph nodes to 50 times the control weight by 20 weeks of age. Homozygotes also have an enlarged spleen, greatly increased numbers of T, B, and null lymphocytes and develop immune complex glomerulonephrosis. Onset of symptoms is dependent on genetic background with the C3H/HeJ strain having the earliest onset exhibiting glomerulonephritis by 22 weeks. In an attempt to offer alleles on well-characterized or multiple genetic backgrounds, alleles are frequently moved to a genetic background different from that on which an allele was first characterized. This is the case for the strain above. It should be noted that the phenotype could vary from that originally described. We will modify the strain description if necessary as published results become available.
003777	CXB5/By-Sil1^wz/J	Repository- Live

009156	CXB5/ByJ-skp/GrsrJ	Repository- Live
	Skimpy homozygotes are smaller than their littermates, walk on their toes, have poor balance, and die by four weeks of age.
002799	CZECHI/EiJ	Repository- Live
	This strain has a coat color mutation which results in heightened agouti yellow pigment. This mutation has not yet been characterized in detail.
003397	D2(B6)-Wtgr/EiGrsrJ	Repository- Live
	Females heterozygous for the wavy tiger mutation have curly whiskers and a wavy coat that appears striped. They are small and have smaller litters than normal. Hemizygous males on this background rarely survive to adulthood and those that do will fail to breed. The sperm has diminished motility.
007562	D2.B6-Ins2^Akita/MatbJ	Repository- Live
	DBA/2J mice heterozygous for the Akita spontaneous mutation are viable and fertile. The donating investigator reports that the symptoms in heterozygous mutant mice are more severe and progressive in the males than in the females and include hyperglycemia, hypoinsulinemia, polydipsia, and polyuria, beginning at approximately 3-4 weeks of age. Obesity and insulitis do not accompany diabetes. Litter sizes range from 2-8 pups. Heterozygous Akita males develop albuminuria at two months of age. The albuminuria is progressive such that by 6 months of age albumin/creatine levels are approximately 600ug/mg. Additionally, it has been reported that DBA/2J heterozygous mutant mice develop diabetic nephropathy. Although not studied in the DBA/2J heterozygotes, C57BL/6 heterozygous mutant mice exhibit gait disturbance and decreased sensory nerve conduction velocity, but do not exhibit learning or memory deficits (Choeiri C et al., 2005). Progressive retinal abnormalities begin as early as ..... For more information please see the full phenotype on the strain data sheet
004624	FVB.129P2-Pde6b⁺ Tyr^c-ch Fmr1^tm1Cgr/J	Repository- Live
	Mice that are homozygous for the targeted mutation are viable and fertile. Quantitative morphological analysis of dendritic spines of visual cortex pyramidal cells reveals mutant mice have more long dendritic spines, fewer short dendritic spines and more spines with an immature morphology than wildtype littermates. These mice were backcrossed for 11 generations onto the FVB background, are homozygous for the 129P2/OlaHsd wildtype Pde6b allele and do not suffer from blindness due to retinal degeneration. This mutant mouse strain may be useful in studies related to Fragile X Syndrome.
008820	FVB.B-Wld^S/UmonJ	Repository- Live
	The Wallerian degeneration slow spontaneous mutation, Wld^s arose on the C57BL/Ola background. On the congenic FVB/N background, mice that are homozygous for this mutation exhibit delayed Wallerian degeneration compared to wildtype controls. Wallerian degeneration is the process of degeneration, after transection, of axons distal to the sever site of a peripheral nerve, and includes infiltration of macrophages, demyelination and initiation of Schwann cell mitosis. The Wld^s mutation is widely expressed and is detected in neural tissue.
006654	FVB.BKS(D)-Lepr^db/ChuaJ	Repository- Live
	The congenic "FVB-db" strain differs from that previously published on other genetic backgrounds in that it presents a marked obesity/diabetes phenotype intermediate between the severe uncompensated hyperglycemia observed in C57BLKS/J and DBA2/J backgrounds and the mild, compensated syndrome reported on the C57BL/6J and 129/J backgrounds. The literature reports that obese FVB-db mice of both sexes show long-term hyperglycemia primarily due to severe insulin resistance. The hyperglycemia in the fed state persists despite continued extreme hyperinsulinemia correlated with a marked pancreatic cell hypertrophy and hyperplasia. These phenotypes have been replicated in the stock at The Jackson Laboratory. However, the diabetic nephropathy (glomerulosclerosis) reported in the literature was not evident in the stock imported to JAX at the age evaluated (24 weeks). As the phenotype varies by genetic background, these mutant mice, along with db mutants on other ge ..... For more information please see the full phenotype on the strain data sheet
006252	LT/SvEiJ	Repository- Live

006825	MRL/MpJ-Fas^lpr/2J	Repository- Live
	The current colony (as of fall 2006) of MRL/MpJ-Fas^lpr/J has experienced a progressive loss of lymphoproliferative phenotype over the past several years, as reported by some of our customers and as observed by our technical staff. This loss of phenotype has been manifested by reduced enlargement of brachial and mesenteric lymph nodes, and poor splenomegaly. Also, the life spans of the mice in the current colony have also been found to be much longer than the historically observed and reported 17 weeks for females and 22 weeks for males. However, genotyping continues to show that all the mice in the colony remain homozygous for the Fas^lpr mutation, and the SNP profile in the region of the mutation on Chromosome 19 has not changed. In an effort to regenerate the desired phenotype, we recovered mice from our embryo archive cryopreserved in 1993. The sixteen-week old cryo-recovered mice have lymph nodes that were 4.5 (females) to 10.1 times (male) la ..... For more information please see the full phenotype on the strain data sheet
009682	NMRI-Tbce^pmn/J	Repository- Live
	Mice that are homozygous for this spontaneous mutation are viable but die prematurely. Onset of locomotor impairment with corresponding motor neuron and muscular degeneration occurs at 2 to 3 weeks of age. Atrophy and paralysis starts in the hind limbs and pelvic girdle and is progressive. Homozygotes die by 6 to 7 weeks of age due to respiratory failure. Neurodegeneration starts in the motor endplates, progresses to loss of axons and results in apoptosis of the cell bodies. Electrophysiological deficiencies are detected by 13 days of age, before the neurodegeneration is clinically visible. Electron microscopic analysis of sciatic and phrenic nerves reveals a reduced number of microtubules. TBCE protein is destabilized, producing a reduction in tubulin and microtubules in motor neuron axons. Progressive microtubule loss occurs in axons distal to proximal and corresponds to axon degeneration. The mutation arose in the NMRI/Pan outbred line and has been identified as a Trp524Gly ..... For more information please see the full phenotype on the strain data sheet
010636	NOD.Cg-B2m^tm1Unc Prkdc^scid Il2rg^tm1Wjl/SzJ	Repository- Live
	The NOD.Cg-Prkdc^scid B2m^tm1Unc Il2rg^tm1Wjl/SzJ mice, commonly known as NOD-scid Il2ry^null B2m ^null (NSG-B2m), do not express the Prkdc gene, the X-linked Il2rg gene nor the B2m gene. Triple mutant mice are viable, normal in size and do not display any gross physical or behavioral abnormalities, but can be poor breeders. Mutant mice combine the features of the NOD/ShiLtJ background, the severe combined immune deficiency mutation (scid), IL2 receptor gamma chain deficiency and the MHC class I molecule, beta-2 microglobulin, deficiency and are relatively resistant to graft versus host disease (GVHD). The mean survival time (MST) of NOD-scid Il2ry^null B2m^null irradiated with 2 Gy and injected with 5 x 10⁶ human peripheral blood mononuclear cells (PBMC) is 44 days compared to the MST of 21 days in the NOD-scid Il2ry^null treated similarly. The bl ..... For more information please see the full phenotype on the strain data sheet
010606	NOD.Cg-Ncf1^m1J/MxJ	Repository- Live
	On the C57BL/6 background, Peritoneal neutrophils and macrophages, bone marrow cells and neutrophils isolated from bone marrow of mice homozygous for Ncf1^m1J fail to produce superoxide upon stimulation in vitro with N-formyl-methionyl-leucyl-phenylalanine (fMLP) or phorbol 12-myristate 13-acetate (PMA), as determined by kinetic spectrophotometric analysis of cytochrome c reduction. Western blot analysis detected no full-length NCF1/p47^phox protein in cells from these mice. Analysis for other NADPH oxidases involved in neutrophil superoxide production revealed that NCF2/p67^phox was present at wild type levels and CYBB/gp91^phox and CYBA/p22^phox were expressed at higher than wild type levels. Other neutrophil products were assayed and found not to differ in bone marrow cells of C57BL/6J vs. mutant mice; (Huang et al. 2000). NOD.Ncf1 deficient mice lack functional NADPH oxidase enzymes and a ..... For more information please see the full phenotype on the strain data sheet
012478	NOD.Cg-Prkdc^scid Tg(HLA-DRA0101,HLA-DRB10101)1Dmz/GckJ	Repository- Live
	Mice that are homozygous for the targeted mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. NOD.CB17-Prkdc^scid mice with the DR1 transgene survive to 14 months as compared to 8.5 months without the transgene. Physiological parameters in this strain are similar to NOD.CB17-Prkdc^scid mice. Engraftment of human hematopoietic cells occurs regardless of DR1 genotype and is enhanced by intrahepatic engraftment using neonatal mice. Following injection, 15-20% human CD45+ cells are detected in peripheral blood. Short-term engrafted cord blood mononuclear cells can mount an immune response to tumor-associated antigen. This mutant mouse strain may be useful for xenotransplantation and vaccine development.
009617	NOD.Cg-Prkdc^scid Il2rg^tm1Wjl Tg(HLA-A2.1)1Enge/SzJ	Repository- Live
	The NOD.Cg-Prkdc^scid Il2rg^tm1Wjl Tg(HLA-A2.1)1Enge/SzJ mice, commonly known as NOD scid gamma, HLA-A2.1 (NSG-A2), express human class I MHC Ag HLA-A2.1 , but do not express the Prkdc gene nor the X-linked Il2rg gene. Triple mutant mice are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. NSG mice, carrying the HLA-A2.1 transgene (homozygous or hemizygous), overcome one of the limitations of immune response seen in the NSG model (Stock No. 005557), in that they develop protective T cell responses against human viral infections, specifically Epstein-Barr virus, exhibiting traits similar to those seen in humans. This model may be useful for studying response to human antigens and represent a unique preclinical model for vaccine development. Please note that this strain carries the true null interleukin-2 receptor gamma chain mutation and ..... For more information please see the full phenotype on the strain data sheet
014570	NOD.Cg-Prkdc^scid Il2rg^tm1Wjl Tg(HLA-A/H2-D/B2M)1Dvs/SzJ	Repository- Live
	Mice that are homozygous for the Prkdc^scid and Il2rg^tm1Wjl alleles (males are hemizygous for the Il2rg^tm1Wjl allele) Tg(HLA-A2/H2-D/B2m)1Dvs/SzJ are immunodeficient and express human HLA class 1 heavy and light chains. HLA-A2 and B2M proteins are detected on the surface of NSG-HLA-A2/HHD splenocytes by flow cytometry analysis. Transplantation of purified human hematopoietic stem cells into newborn NSG-HLA-A2/HHD mice establishes a humanized immune microenvironment allowing functional maturation of human hematopoietic cells. Epstein-Barr virus (EBV) infection results in EBV-associated B cell proliferation and HLA-restricted EBV antigen-specific effector memory CTLs.
012479	NOD.Cg-Prkdc^scid Il2rg^tm1Wjl Tg(HLA-DRA0101,HLA-DRB10101)1Dmz/GckRolyJ	Repository- Live
	Mice that are homozygous for the targeted transgene are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. These mutant mice combine the features of the NOD/ShiLtJ background, the severe combined immune deficiency mutation (scid), IL2 receptor gamma chain deficiency and a human/mouse chimeric MHC Class II transgene (Tg(HLA-DRB1*01)1Dmz). This mutant mouse strain is expected to be useful for xenotransplantation and vaccine development.
012480	NOD.Cg-Prkdc^scid Il2rg^tm1Wjl Hprt^b-m3/EshJ	Repository- Live
	Mice that are homozygous/hemizygous for these alleles are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. These mutant mice combine the following characteristics: NK cell deficiency (NOD/ShiLtJ background), T and B cell deficiency (Prkdc^scid), reduced numbers of lymphocytes and myeloid dendritic cells (Il2rg^tm1Wjl) and biochemically defective stromal cells (Hprt^bm-3). These mice can be used for transplantation of human primary cancers. During tumor growth, Hprt-defective murine fibroblast and stromal cells replace human stromal cells. In culture, the addition of HAT selection media eliminates murine fibroblasts and other stromal cells and facilitates the isolation of human cancer cells. These mice may be used to generate patient-specific low passage cell lines from primary cancers for use in chemosensitivity profiling and other applications.
013062	NOD.Cg-Prkdc^scid Il2rg^tm1Wjl Tg(CMV-IL3,CSF2,KITLG)1Eav/MloySzJ	Repository- Live
	These mice contain three coinjected transgenes, human interleukin-3 (IL-3), human granulocyte/macrophage-stimulating factor (GM-CSF), and human Steel factor (SF) gene, each driven by a human cytomegalovirus promoter/enhancer sequence. These mice are maintained on the NOD.Cg-Prkdc^scid Il2rg^tm1Wjl/SzJ mice (Stock No. 005557) background. These mice constitutively produce 2-4 ng/ml serum levels of human IL-3, GM-CSF, and SF. The Il2rg-/- specific NOD.SCID background supports human and murine hematopoietic cell engraftment, and suppresses human erythropoiesis, enhances human myelopoiesis, and reduces human B-lymphopoiesis in mice after transplant of human bone marrow or fetal liver cells.
011066	NOD.Cg-Prkdc^scid Il2rg^tm1Wjl Tg(CSF2)2Ygy Tg(IL3)1Ygy Tg(KITLG)3Ygy/YgyJGckRolyJ	Repository- Live
	These mutant mice carry the Prkdc^scid and Il2rg^tm1Wjl alleles and the Tg(IL3)1Ygy, Tg(CSF2)2Ygy and Tg(KITLG)3Ygy transgenes. The Tg(CSF2)2Ygy transgene contains the porcine colony stimulating factor 2 (granulocyte-macrophage) sequence (CSF2) under the control of the human cytomegalovirus promoter. The Tg(IL3)1Ygy transgene contains the porcine interleukin 3 sequence under the control of the human cytomegalovirus promoter. The Tg(KITLG)3Ygy transgene contains the porcine kit ligand (KITL) under the control of the human cytomegalovirus promoter. The 3 transgenes were coinjected together in the original transgenic strain used to generate this mutant strain.
008659	NOD.Cg-Rag1^tm1Mom Ins2^Akita Prf1^tm1Sdz/SzJ	Repository- Live
	Like NOD.Cg-Rag1^tm1Mom Prf1^tm1Sdz/J (004848), this strain lacks mature T and B cells. NK cells, although present, lack cytotoxic activity. Both sexes develop spontaneous hyperglycemia as early as three weeks of age, however, the phenotype is predominantly exhibited by males. Pancreatic islets have reduced insulin staining and exhibit an altered morphology with age. Human islet transplantation at doses of 4000 IEQ is successful in returning hyperglycemic males to a euglycemic state. This strain may useful in studies of human islet and beta stem and progenitor cell function.
014568	NOD.Cg-Rag1^tm1Mom Ins2^Akita Il2rg^tm1Wjl/SzJ	Repository- Live
	NRG-Akita mice, which are homozygous for the Rag1^tm1Mom and the Il2rg^tm1Wjl alleles (males are hemizygous for the X-linked Il2rg^tm1Wjl allele) and heterozygous for the Ins2^Akita allele, develop spontaneous hyperglycermia. No mature T, B or NK cells are detected in flow cytometric analysis of splenocytes from NRG-Akita mutant mice. Granulocyte and macrophage populations are similar to those seen in NRG mice (Stock No. 7799). NRG-Akita mice develop hyperglycemia between 3 and 5 weeks of age. Histological examination at 3 weeks of age reveals normal pancreas morphology, and routine insulin and glucagon staining. By approximately 32 weeks of age, NRG-Akita mice display disorganized, condensed pancreatic islet architecture, with loss of insulin-positive cells. Euglycemia is restored by subrenal transplantation of mouse or human islets or intrapancreatic transplantation of dissociated mouse islet cells. NRG-Akita ..... For more information please see the full phenotype on the strain data sheet
005354	RB156Bnr/Ei rul-Gulo^sfx-2J/GrsrJ	Repository- Live
	The phenotype of the sfx^2J remutation is identifiable at 4-5 weeks of age when the mutants appear smaller than their control littermates and begin to hobble about their cage. Between 5 and 8 weeks of age the mutants develop rear limb paralysis and many die by 8 weeks of age. The phenotypic characteristics of this mutation are similar to the original mutation spontaneous fracture (Gulo^sfx) except for the eye phenotype described below that is inherent in the background strain on which the sfx^2J mutation arose. Mice homozygous for the sfx^2J remutation also had cataracts and rosettes and wavy outer nuclear layer of retinas. The eyes of a female mutant were checked using an opthalmascope and it was found to have cataracts on both eyes (as the strain background has characteristically). It has not yet been determined if the rosettes and wavy outer nuclear layer of the retinas is also characteristic of the background s ..... For more information please see the full phenotype on the strain data sheet
005362	RB156Bnr/Ei-rul/GrsrJ	Repository- Live
	The phenotype of this mutation can be identified at about 10 days of age by a ruffled looking coat, which is different than the smooth coat of control littermates. The hair of mutant mice is sparse and has some curling. The ruffled looking coat is maintained throughout the animal's lifespan, unlike the caracul and caracul-like mutants who lose some of their curly coat with age. Mice homozygous for the ruffled mutation have a normal lifespan and both sexes breed normally.
001591	RHJ/LeJ	Repository- Live
	Rhino mice have spleen cells with a defective response to T-dependent antigens and they develop an autoimmune disease characterized by hypergammaglobulinemia, immunoglobulin deposits in basement membrane of skin, spleen, liver, and kidney, and presence of antinuclear antibodies which occur in young mice and increase with age. These mice have increased numbers of Thy1 positive epidermal dendritic cells. Like homozygous hairless mice, rhino mice are hairless by 5 weeks and their skin becomes wrinkled and thickened.
000644	SEA/GnJ	Repository- Live

003392	STOCK Crb1^rd8/J	Repository- Live

014543	STOCK Hgf^{tm1.1(HGF)Aveo} Prkdc^scid/J	Repository- Live
	Mice homozygous for both the hHGFki and Prkdc^scid alleles, also called immunocompromised hHGFki mice, are viable and fertile. The hHGFki allele is a "humanized" knock-in mutation that replaces the mouse hepatocyte growth factor (HGF) coding region downstream of the signal sequence with the human HGF cDNA sequence. As a result, the endogenous mouse promoter drives expression of human HGF. While the human HGF activates both the human and murine form of its tyrosine kinase receptor (met proto-oncogene (MET; c-Met)), the murine HGF is unable to activate human MET. Mice homozygous for hHGFki express only the human form of HGF. In homozygous hHGFki mice, HGF expression from the knock-in allele is observed in developing embryo, as well as adult liver, kidney and lung. hHGFki homozygous mice exhibit an increase in serum HGF after clotting. Mice homozygous for the Prkdc^scid mutation exhibit T- and B-cell deficiency.
005051	STOCK Kit^W-sh/HNihrJaeBsmJ	Repository- Live
	Kit mutations affect melanogenesis, hematopoiesis and gametogenesis. The sash mutation affects melanoblast survival. Melanoblast density is severely reduced in homozygotes by E12 (Cable et al., 1995). Homozygote are white with black eyes and some pigment around the ears. Heterozygotes are black with a white sash at the midline. The Kit^W-sh mutation affects Kit expression in a tissue specific manner. Kit expression is abolished in mast cells and mutant mice have a mast cell deficit (Tono et al., 1992, Berrozpe et al., 1999). However, young animals (<4 weeks) have been reported to have mast cells in skin (Yamakazi et al., 1994). Kit^W-sh mRNA is expressed normally in the cerebellum and is weakly expressed in testis and spleen (Tono et al., 1992). In contrast to the Kit^W and Kit^W-v mutations, Kit^W-sh germ cells and erythrocytes are not affected. Homozygtes have some ..... For more information please see the full phenotype on the strain data sheet
012874	STOCK Map3k11^m1J/GrsrJ	Repository- Live
	Mice homozygous for the Map3k11^m1J mutation can be identified easily as early as 3 to 4 days of age by the dorsal lines of dark red skin that run from head to tail along the spine and from left to right across the crown of the head, base of the neck in front of the shoulders, and between the base of the ribs and the pelvis. These lines fade away and by 3 weeks of age are no longer evident even when the homozygote is shaved to expose the skin. Homozygotes have necrotic dental pulp, which also improves with age.
001618	STOCK Oca2^p Prop1^df/J	Repository- Live
	Mice homozygous for the Ames dwarf spontaneous mutation (Prop1^df) resemble mice homozygous for the Snell's dwarf mutation (Pit1^dw). Homozygous Ames dwarf mutant mice show growth retardation after the first postnatal week, and weight at 2 months is only about one-half normal. Females and most males are sterile. There is no detectable growth hormone or prolactin. Ames dwarf mice have a secondary immune deficiency presumably resulting from the lack of growth hormone.
006104	STOCK Ush1c^dfcr-3J/J	Repository- Live
	Mice homozygous for the deaf circler 3 Jackson mutation display head bobbing and rapid circling and are deaf. This strain is maintained segregating for coat color alleles resulting in agouti and albino mice.
014563	STOCK Utrn^tm1Ked Dmd^mdx/J	Repository- Live
	Female mice that are homozygous for the Utrn^tm1Ked allele and the Dmd^mdx allele, and male mice that are homozygous for the Utrn^tm1Ked allele and hemizygous for the Dmd^mdx allele, exhibit a more severe phenotype than single Dmd^mdx mutants: earlier onset of muscle dystrophy (degeneration, macrophage infiltration and necrosis), weight loss after weaning, joint contractures, kyphosis, dystrophy of extraocular muscles, abnormal electrocardiograms, infertility and premature death. Growth retardation onset is at weaning. By 4 of 6 weeks of age, the double mutants exhibit reduced body weight, reduced mobility, abnormal breathing pattern and slack posture. Muscle weakness and kyphosis (curvature of the spine) is progressive and the double mutant mice develop a waddling gait. Necrosis of the diaphragm muscle is observed in 6 day old double mutant mice. Muscle fibers with centralized nuclei are seen in ..... For more information please see the full phenotype on the strain data sheet
017007	STOCK fsq/GrsrJ	Repository- Live
	At approximately two months of age, flying squirrel homozygotes stiffen throughout their trunk and limbs, particularly on the ventral side of the body, and when picked up take on a rigid spread out posture. As a result they walk with a slight stagger. Homozygotes are not fertile but do live to adulthood.
006857	STOCK ne/J	Repository- Live
	Mice homozygous for the no eyelid mutation have a range of phenoytpes with varying penetrance including missing eyelid, closed eyelids, microphthalmia, ocular deformities, malformed digits, malformed ear pinnae, renal agenesis, and slight discoloration of the fur on the head.
014631	SWR/J-curt/GrsrJ	Repository- Live

100401	WCB6F1/J-Kitl^Sl/Kitl^Sl-d	Repository- Live
	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). Many steel alleles cause severe anemia resulting in death in utero of homozygous mutant mice. However, mice homozygous for some steel mutations and compound heterozygotes for two steel alleles (e.g., Kitl^Sl/Kitl^Sl-d) are viable and have black eyes and a white coat; they have severe macrocytic anemia, and both sexes are usually sterile due to failure of germ cells to migrate correctly during development. Mice heterozygous for a single steel mutation have diluted coat color with a small amount of white spotting, are viable and fertile, and may have a slight macrocytic anemia. Primordial germ cells are absent in the nonviable steel homozygotes and severely reduced in steel heterozygotes. Mast cells are virtuall ..... For more information please see the full phenotype on the strain data sheet
000395	129S1/Sv-Vsx2^or-J/J	Research Strain

005379	B6(A)-Rpe65^rd12/J	Research Strain

005350	B6.CAST(Cg)-Large^vls/Pjn	Research Strain
	Mice homozygous for the veils (Large^vls) allele appear runted with muscle wasting. By five months of age, mild to moderate multifocal areas of cardiomyocyte degeneration are observed in the myocardium of homozygotes. Homozygote mice exhibit extensive ocular abnormalities including: retinal dysplasia, a disorganized ganglion cell layer, thinning of the inner nuclear layer, a progressive diminution of photoreceptor cells with aging, as well as, defects in the inner limiting membrane and outer plexiform layer. (Lee Y, et al., 2005)
004297	B6.CXB1-Pde6b^rd10/J	Research Strain

003678	B6.CXB1-Pde6c^cpfl1/J	Research Strain
	As early as 3 weeks of age electroretinograms show no cone-mediated responses, although rod-mediated responses are normal. There is normal retina structure but as early as 3 weeks of age vacuolization of a small subset of cells in the photoreceptor layer is found and cone photoreceptor cell degeneration becomes extensive such that very few cone cells can be found at 5 months of age. This mutant is a model for achromatopsia.
004643	B6.Cg-Nr2e3^rd7/J	Research Strain
	Nr2e3 is a retinal transcription factor important in the developmental pathways of photoreceptor cells. In mice homozygous for Nr2e3^rd7, evenly distributed white spots cover the retina and have been detected by Fundus examination as early as 16.5 days of age. Whorls and rosettes in the outer nuclear layer can first be detected at 12.5 days of age, before the eyes open. These whorls likely underlie the appearance of the white spots on the retina and the white spots and whorls are both present at one month of age then are reduced in number by 5 months, and disappear by 16 months. Electroretinographs give normal signals until 5 months of age when both rod and cone signals begin to show a progressive reduction. Attenuated retinal vessels and mottled pigment are found by 16 months of age, and the outer nuclear layer is only half normal thickness subsequent to progressive loss of cones and rods. Immunohistochemical assessment revealed that the whorls are filled ..... For more information please see the full phenotype on the strain data sheet
003833	B6.Cg-Tg(Eno2-Ighmpb2)17Cx Ighmbp2^nmd-2J/Cx	Research Strain
	Mice hemizygous for the transgene are viable and fertile. RT-PCR analysis indicates that transgene expression is limited to the central nervous system including forebrain, cerebellum and spinal cord. The presence of the transgene rescues the neuromuscular degeneration exhibited by nmd-2J mice. These mice have no obvious phenotype. This strain is useful for studies involving the role of Ighmpb2 in motor neuron disease.
005454	B6;129S7-Ey3/Boc	Research Strain
	Mice heterozygous for the eyeless 3 mutation were initially identified as having lens-cornea synechia and eyelessness. Heterozygotes have occasional anophthalmia wherein one or both eyes may be missing or rudimentary. When eyes are present they display a white corneal opacity with a dark spot in the center. Homozygotes are not produced and are believed to die prenatally.
017540	B6;CAST-Gars^Nmf249/JRwb	Research Strain
	View strain phenotype and additional information on the Neuroscience Mutagenesis Facility web page for Gars^Nmf249 entry. Mutant mice are smaller than their littermates and develop an unsteady gait about 3 weeks of age (average 3.5weeks of age +/-0.5, n=22). The mice fail to thrive and die between 4-8 weeks of age. Males and females are affected and do not live long enough to mate normally. Although the NMF249 mutation arose in an ENU mutagenized family, it is most likely a spontaneous mutation. The parents showed no overt phenotype and produced only 1 affected mouse in a total of 24 progeny. However, when this animal was mated to a wild-type male (using ovarian transplants), half the offspring was affected, suggesting that a spontaneous dominant mutation may have occurred. Ratios from subsequent matings are consistent with a fully penetrant dominant mutation. In vitro fertilization was attempted using s ..... For more information please see the full phenotype on the strain data sheet
002134	C57BL/6J-Mitf^mi-vit/J	Research Strain
	Mutations at the Mitf locus affect eye size, pigmentation, and the capacity for secondary bone resorption. Mice homozygous for the vitiligo spontaneous mutation Mitf^mi-vit are only mildly affected compared to other Mitf alleles. Homozygous mutant mice have a lighter initial coat color than normal with extensive white spotting. After eight weeks of age, the mice producing increasing numbers of white hairs with each hair cycles resembling human vitiligo. Homozygotes exhibit uneven pigmentation of the retina and slow, progressive photoreceptor cell loss, eventually leading to blindness.
000516	C57BLKS-Rpl24^Bst/J	Research Strain
	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 phenotype on the strain data sheet
012438	D2.B6-Fscn2⁺/Kjn	Research Strain
	This congenic expresses the C57BL/6J derived sequence of Fscn2, rather than the Fscn2^ahl8 sequence, and has a resulting amelioration of the early onset hearing loss characteristic in DBA/2J mice. Distinct from the DBA/2J host background these congenic mice have click, 8 kHz, and 16 kHz ABR thresholds at 2 months of age that are equivalent to those of C57BL/6J, although the 32 kHz thresholds are elevated similar to those of DBA/2J. This congenic rescue is similar to that found in the transgenic rescue in DBA/2J-Tg(RP24-180N9)2Kjn/Kjn (stock #012440).
016848	STOCK ey4/BOC	Research Strain
	Mice homozygous for the eyeless 4 mutation display anophthalmia and lens-cornea synechia.
000641	129P1/ReJ-Lama2^dy/J	Cryopreserved - Ready for recovery
	Mice homozygous for the dystrophia-muscularis spontaneous mutations (Lama2^dy and Lama2^dy-2J) are characterized by progressive weakness and paralysis beginning at about 3 1/2 weeks of age. The hindlimbs are affected first, later the axial and forelimb musculature. Death usually occurs before 6 months of age, and mutant mice are usually sterile. Skeletal muscle shows degenerative changes with proliferation of sarcolemmal nuclei, increase in amount of interstitial tissue, and size variation among individual muscle fibers. In the dorsal and ventral roots of the peripheral nerves, both spinal and cranial, Schwann cells fail to separate and ensheathe axons so that groups of closely apposed naked axons, normally seen only in early stages, persist into adulthood. In the rest of the PNS, the basement membrane of Schwann cells is interrupted by gaps, the internodal gap in the nodes of Ranvier is lengthened, and there is delayed onset of myelination with fewer ..... For more information please see the full phenotype on the strain data sheet
000709	129P3/J-Lepr^db-3J/J	Cryopreserved - Ready for recovery
	Mice homozygous for the diabetes 3J spontaneous mutation (Lepr^db-3J) become identifiably obese around three to four weeks of age. Elevations of plasma insulin begin at 10 to 14 days and of blood sugar at four to eight weeks. Homozygous mutant mice are polyphagic, polydipsic, and polyuric. The course of the disease is markedly influenced by genetic background. Homozygous mutant mice on the 129P3/J background exhibit severe obesity but the diabetes phenotype is much reduced.
000212	129P4.Cg-Axin1^Fu/J	Cryopreserved - Ready for recovery
	The fused mutation is dominant and generally more severe in homozygotes, but has highly varying penetrance in both the heterozygote and homozygote, to the extent that some homozygotes do not have an abnormal phenotype. Phenotypic traits of mice carrying the 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.)
000090	129S1/Sv-Oca2⁺ Tyr⁺ Kitl^Sl-J/J	Cryopreserved - Ready for recovery
	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 advancing a ..... For more information please see the full phenotype on the strain data sheet
000385	129S;AKR-bs/J	Cryopreserved - Ready for recovery
	Mice homozygous for the spontaneous blind sterile mutation (bs) are characterized by bilateral nuclear cataracts, smaller than normal eyes, and glossy coats. Female mutant mice are fertile but males are sterile. Cataracts are visible in 16 day embryos and continue to adulthood. Adult male mice copulate normally but have smaller than normal testes. Defects in spermatogenesis lead to a reduced number of sperm and those that are formed completely lack acrosomes.
002768	A/J-Hk1^dea/J	Cryopreserved - Ready for recovery
	Severe pallor is a distinguishing feature of Hk1^dea homozygotes and is evident at birth. Decreased hexokinase activity is found in the spleen, kidney, and red blood cells, but not the liver. Peripheral blood smears reveal anisocytosis, hypochromia, polychromatophilia, in addition to the presence of echinocytes and a morphologic anomaly of red cells deemed "split cell" in which they pull into halves tethered by thin strands of membrane. Spheroctyes are not found. These homozygotes are smaller than normal, die prematurely, and females are infertile. The phenotype includes reduced red blood cell count, hemoglobin, hematocrit, and red blood cell mean corpuscular hemoglobin content. Circulating reticuloctyes are 83% rather than the normal 3.1%, red blood cell mean corpuscular volume is increased, and total bilirubin is increased. Splenic weight is increased, the red pulp is enlarged, and there is heightened iron accumulation in the kidney tubules and liver but not in ..... For more information please see the full phenotype on the strain data sheet
003485	A/J-frg/J	Cryopreserved - Ready for recovery
	Mice homozygous for the froggy mutation have a smaller body size and a shortened face with wide set eyes.
005136	A/WySnJ-ctl/GrsrJ	Cryopreserved - Ready for recovery
	Mice homozygous for the ctl mutation are easily recognizable at birth by their curly or bent tails.
000004	ABP/LeJ	Cryopreserved - Ready for recovery
	Mice homozygous for the 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 phenotype on the strain data sheet
000202	AEJ/Gn-bd/J	Cryopreserved - Ready for recovery

000820	AKR/J-Foxn1^nu-str/J	Cryopreserved - Ready for recovery
	Mice homozygous for the streaker spontaneous have a phenotype that is very similar to nude mice. Homozygosity prevents the development of T cell lymphomas seen in AKR mice.
003656	AKR/J-we^4J/J	Cryopreserved - Ready for recovery

000277	ATEB/LeJ	Cryopreserved - Ready for recovery
	Mice homozygous for the atrichosis spontaneous mutation (at) are characterized by sparsely distributed hair, especially on the trunk. The amount of hair varies, but affected mice can be easily recognized at 8 to 10 days old. Both sexes are sterile and have very small gonads with few germ cells. There is a great deficiency of primary spermatogonia in the testes. A quantitative study of maturation of ovarian oocytes showed that the proportion of resident oocytes recruited into the first wave of growth was much higher than in phenotypically normal heterozygous controls (J.J. Eppig, personal communication). This strain is also segregating for the eye blebs spontaneous mutation (Grip1^eb).
000649	AU/SsJ	Cryopreserved - Ready for recovery

002472	B10.A/SgSnJ-Hps3^coa-5J/J	Cryopreserved - Ready for recovery

008623	B10.Cg-Cacna1a^Tg-5J/LetJ	Cryopreserved - Ready for recovery
	Mice heterozygous for the semi-dominant Tottering 5 Jackson mutation exhibit a shaky gait with hind limbs splayed laterally from the body in contrast to the other tottering mutants . Also, unlike tottering mice, Tg-5J heterozygotes do not exhibit dyskinesia or absence seizures. Axonal swelling is observed in Purkinje cells from homozygotes as well as a decrease in branching. The Tg-5J mutation causes a shift in voltage activation and inactivation to lower voltages. This strain may be useful for studies of epilepsy and voltage-dependent calcium channels. The C57BL/10J background appears to be embryonic lethal as no homozygotes are produced in heterozygote x heterozygote matings. On a mixed BALB/cByJ and C57BL/10J background some homozygotes are produced, but die before 6 weeks of age.
006446	B10.Cg-H2^h4 Sh3pxd2b^nee/GrsrJ	Cryopreserved - Ready for recovery
	Mice homozygous for the nose eyes ear mutation are runted, with proportionally smaller skeletons, shortened noses, shortened and domed skulls, reduced areal bone mineral density, diminished visceral and subcutaneous white adipose tissue, but not brown adipose tissue, and abnormal eyes and middle ears. The eyes have an enlarged anterior chamber, cloudy cornea, and severe peripheral anterior synechia of the irideocorneal angle. The middle ear shows inflammation as serous fluid with diffuse neutrophils with thickened epithelium. Elevated ABR thresholds are found in all homozygotes and homozygotes are infertile.
000405	B10ScSn.Cg-T/J	Cryopreserved - Ready for recovery

003483	B6 x B10.D1-H2^q/SgJ-Nox3^het-2J/J	Cryopreserved - Ready for recovery

003561	B6 x B10.PL-H2^u/(73NS)Sn-Hxl/J	Cryopreserved - Ready for recovery
	Hxl is a dominant mutation with 100% penetrance. Heterozygotes and homozygotes have polydactyly.
004591	B6 x B6Ei.Cg-T^Wis/EiJ	Cryopreserved - Ready for recovery

004835	B6 x B6JCu.Cg-wl/J	Cryopreserved - Ready for recovery
	Homozygous wabbler-lethal mice are first recognizable at 12 days of age and usually die at about 4 weeks. They have an abnormal wobbly gait and a pronounced tremor when walking.
000953	B6 x BALB/cBy-T^4J/J	Cryopreserved - Ready for recovery

001765	B6 x BALB/cBy-cla/J	Cryopreserved - Ready for recovery
	Clasper is a spontaneous, recessive mutation phenotypically apparent by 14 days of age and neither deteriorating nor improving thereafter. This mutation causes whole body tremor followed by clasping of the paws when the mouse is suspended by the tail. Homozygous males and females are viable and fertile but smaller in size than normal. Homozygotes often have a hobbling gait resulting from the tendency to clasp the rear paws and hold them close to the body. (Sweet HO, 1985).
002440	B6 x BALB/cByJ-Grid2^Lc-J/J	Cryopreserved - Ready for recovery

002434	B6 x BALB/cByJ-Kcna1^mceph/J	Cryopreserved - Ready for recovery
	Mice homozygous for the megencephaly spontaneous mutation (mceph) are characterized by a 25% increase in brain size in the first 8 months of life. This defect can be distinguished from macrocephaly, an enlarged head, which usually occurs as a consequence of congenital hydrocephalus. By 3-4 weeks of age, mice homozygous for the mceph mutation have a subtle shakiness in their gate and by 4-6 weeks are found to sit on their haunches using their tails as support with their forelimbs held loosely in front of them. They maintain this posture for a period ranging from 30 seconds to several minutes before returning to normal. They have lower overall body weights than their wildtype littermates and are hypersensitive to sharp sounds. Electroencephalogram readings for homozygotes are normal. Neither male nor female mutants breed, but ovarian transplant from homozygous donors is successful for colony maintenance. Homozygotes have an increased brain mass that is evident by one t ..... For more information please see the full phenotype on the strain data sheet
002533	B6 x BALB/cByJ-Lpin1^fld/J	Cryopreserved - Ready for recovery

002239	B6 x BALB/cJ-Gdf5^bp-3J/J	Cryopreserved - Ready for recovery

002995	B6 x C.B10-H2^b/LiMcdJ-Fbn2^fp-2J/J	Cryopreserved - Ready for recovery
	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.)
002048	B6 x C57BLKS-Dock7^m Lepr^db Myo15^sh2-J/J	Cryopreserved - Ready for recovery
	Mice homozygous for the shaker 2 Jackson spontaneous mutation (Myo15^sh2-J) are viable and fertile, showing only a slight reduction in both compared to wild-type mice. The shaker 2 Jackson remutation is not visibly different from the original shaker 2 (Myo15^sh2, Stock No. 000109). Homozygous mutant mice of both alleles display a phenotype very similar to the behavior and pathology to shaker-1 (Myo7a^sh1) with the exception that the abnormalities are observed a little earlier in shaker 2 mice. This strain is also carrying the misty (Dock7^m) and diabetes (Lepr^db) spontaneous mutations.
002542	B6 x CByJ.Cg-Crm/J	Cryopreserved - Ready for recovery

000938	B6 x STOCK Epha4^rb/J	Cryopreserved - Ready for recovery
	Mice homozygous for the rb allele of Epha4 can be visibly identified by 2.5 - 3 weeks of age by a constant hopping gait of the hind limbs; the forelimbs may show a hopping gait or move normally. When picked up by the tail homozygotes clasp their hindlimbs and show reduced ability to hold on to an edge; forelimbs show normal strength.
005543	B6(129)-Duox2^thyd/J	Cryopreserved - Ready for recovery

005292	B6(129S2)-Sobp^jc-2J/J	Cryopreserved - Ready for recovery

004235	B6(AKR)-Pfas^Sofa/J	Cryopreserved - Ready for recovery
	The short face mutation is lethal in homozygotes and has varying penetrance in heterozygous carriers, which can be phenotypically undetectable or can display a short nose, domed skull, and wide set eyes.
006564	B6(C)-Kit^W-41J Gusb^mps/BrkJ	Cryopreserved - Ready for recovery
	Mice homozygous for the "mps" (mucopolysaccharidosis type VII or MPS VII) mutation are devoid of expression of the lysosomal enzyme beta glucuronidase. Homozygous animals are viable, but females have a deficiency in lactation. Skeletal and connective tissue anomalies in both males and females are believed to prevent successful breeding. As this mutation is recessive, heterozygous mice are phenotypically similar to wildtype. Homozygotes exhibit short and thickened long bones (smaller than heterozygous or wildtype littermates), "pug type" appearance of the nose, hepatomegaly, splenomegaly, corneal clouding, and deafness. In appearance, homozygous Kit^W-41J mice are mostly white with black eyes and brown or grey spots. They are fertile, distinct from mice with other alleles of Kit, and have the impaired hemopoiesis causing mild, normochromic, macrocytic anemia. MPS VII mice are a model of the beta glucuronidase enzyme deficiency in humans called Sly Disease. They ..... For more information please see the full phenotype on the strain data sheet
008568	B6(CAST)-Prkra^lear/GrsrJ	Cryopreserved - Ready for recovery
	Homozygotes have an overall reduced body size and smaller than normal ear pinna.
001496	B6(Cg)-Bmp5^se-4J/J	Cryopreserved - Ready for recovery

003916	B6(Cg)-Col2a1^sedc/J	Cryopreserved - Ready for recovery
	Newborn homozygotes are smaller than normal, have a shortened trunk, and often display head bobbing. Decreased body weight persists into adulthood, and the noses, trunks, tails, skulls, and long bones of adults are shortened relative to those of normal siblings. Abnormal epiphyses, with dysplasia of the vertebrae, femora, and tibias are found. Although light microscopy failed to detect any abnormalities in the inner ear, the head bobbing characteristic accompanying this mutation is usually associated with inner ear defects. Auditory brainstem response threshold analysis of 10-15 week old homozygotes does show hearing impairment. Clefts develop between the inner and outer aspects of the inner nuclear layer of the retina (retinoschisis).
000152	B6(Cg)-Cys1^cpk/J	Cryopreserved - Ready for recovery

005071	B6(Cg)-Dct^Slt-lt3J/J	Cryopreserved - Ready for recovery
	Dct^Slt-lt3J heterozygous mice are diluted to a dark brown and homozygous mice are diluted to a light brown.
004608	B6(Cg)-Htra2^mnd2/J	Cryopreserved - Ready for recovery
	Mice homozygous for the recessive Htra2^mnd2 mutation have a basal ganglia disorder initially described as an early onset motor neuron disease. This is first outwardly evident by 21 to 24 days of age as an unsteady gait with extended hind limbs, repetitive movements and episodes of sudden arrests. This progresses to include severe muscle atrophy, hunched posture, increased imbalance, chorea, dystonia, and progressive akinesis. A failure to gain weight becomes evident shortly after the onset of the other symptoms and by 35 days of age wildtype littermates are twice as heavy as the mutants. Body fat is not detectable at necropsy. Both the spleen and the thymus drop from normal weights at 23 days of age to 10% of normal at 30 days of age and the thymic corticomedullary junction is lost. Death usually occurs within two weeks of disease onset, by 40 days of age. The growth retardation is not the primary cause since disease is not delayed by intragastric feeding. > ..... For more information please see the full phenotype on the strain data sheet
008834	B6(Cg)-Tmie^sr-2J/J	Cryopreserved - Ready for recovery
	Mice homozygous for the spinner 2 Jackson mutation display head tilting and circling and are deaf.
000562	B6(Cg)-Tub^tub/J	Cryopreserved - Ready for recovery
	Mice homozygous for the tubby spontaneous mutation experience maturity-onset obesity. Homozygous mutant mice are recognizable by increased body weight at 3 to 4 months in males and at 4 to 6 months in females. Both sexes are fertile. The increased weight is composed of excess adipose tissue. Blood glucose is normal, but plasma insulin is increased prior to obvious signs of obesity and may rise to 20 times normal by 6 months. Despite elevated plasma total cholesterol, triglycerides, and high-density lipoprotein cholesterol, homozygous mutant mice do not exhibit atherosclerotic fatty streak blood vessel lesions. Tubby mutant mice also exhibit retinal degeneration, initially believed due to the presence of another mutation which was called rd5, but since demonstrated to be a pleiotropic effect of the Tub^tub mutation (Ohlemiller et al., 1997); the retinal phenotype is moderated by a QTL on Chromosome 11 (Ikeda et al., 2002). Tubby homozygotes additionally exhibit p ..... For more information please see the full phenotype on the strain data sheet
006111	B6(Cg)-Ush1g^js-2J/J	Cryopreserved - Ready for recovery
	Mice homozygous for the Jackson shaker 2 Jackson mutation display head tossing and circling behavior and have inner ear hair cell loss. Deafness, assessed via ABR, was found as early as 12 days of age.
004640	B6(MOR)-Lhfpl5^hscy/J	Cryopreserved - Ready for recovery
	Mice homozygous for the Lhfpl5^hscy mutation circle rapidly, shake their heads from side to side, fail to swim, and are congenitally deaf. Although hair cells appear normal at birth, they degenerate. At 4 months of age, degeneration of the organ of Corti is also found, more pronounced in the basal region of the cochlea than the apex, with loss of inner and outer hair cells and decreased spiral ganglia (Longo-Guess et al., 2005).
005624	B6(V) Lep^ob-whe/GrsrJ	Cryopreserved - Ready for recovery
	White eye homozygotes have partially or completely open eyelids at two days of age. Subsequently, likely as a consequence of infection, homozygotes develop a small white spot and atypical growth of blood vessels on the cornea of each eye, although occassionally only one eye is affected.
008129	B6(V)-Bhrd/GrsrJ	Cryopreserved - Ready for recovery
	Females heterozygous for the bad hair day mutation have patches of fur missing from the coat, male hemizygotes are almost bald, and female homozygotes are nearly as bald as hemizygous males. Hairs from heterozygous females are morphologically normal, while those from hemizygous males are short and thin. There is increased pigment in the hairs of both hemizygotes and heterozygotes.
002552	B6(V)-Cdh23^v-2J/J	Cryopreserved - Ready for recovery
	Mice homozygous for the waltzer 2J spontaneous mutation (Cdh23^v-2J) show the circling, head-tossing, deafness, and hyperactivity typical of the circling mutants. Homozygous mutant mice are very similar to the other waltzer mutants (Cdh23^v and Cdh23^v-J). Most homozygotes are deaf from birth. Abnormalities of the inner ear include degeneration of the organ of Corti, spiral ganglion, stria vascularis, and saccular macula. Double heterozygotes with shaker-1 (v/+ Myo7a^sh1/+) are deaf beginning at 3 to 6 months. Double heterozygotes have changes similar to those of the homozygotes in the organ of Corti, stria vascularis, and spiral ganglion, but less severe and with much later onset. Viability and breeding ability are somewhat reduced.
005565	B6(V)-chtl^2J/GrsrJ	Cryopreserved - Ready for recovery
	Mice homozygous for this spontaneous recessive mutation are recognized by a diluted coat color that appears chocolate brown. This color dilution also lightens the eyes, feet, ears, and tail of affected animals.
006860	B6.129-Ins2^Akita Bdkrb2^tm1Jfh/SmiJ	Cryopreserved - Ready for recovery
	Mice homozygous for the targeted mutation and heterozygous for the Ins2^Akita spontaneous mutation are viable and fertile. Similar to mice only heterozygous for the Ins2^Akita mutation, the double mutant mice are severely diabetic: their body weights are 70% of wildtype, they consume over 3-fold the normal amount of food, and their urinary output is approximately 20-fold more than that of wildtype mice. Double mutant mice have markedly enlarged kidneys. Urinary albumin excretion in double mutants is almost 4-fold that of either single mutant, and double mutants experience more severe nephropathy than mice that are heterozygous for the Akita mutation alone. Megsin and nephrin expression is markedly increased in double mutant mice when compared to wildtype or to mice with either single mutation alone. By 12 months of age, double mutant mice experience hair loss due to a reduction in hair follicle numbers and thinning of the dermis. Double mutants ..... For more information please see the full phenotype on the strain data sheet
000447	B6.129-Spnb1^ja/J	Cryopreserved - Ready for recovery
	Mice homozygous for the jaundiced mutation are very pale but not jaundiced at birth, but develop severe jaundice within hours of being born. They have severe microcytic hemolytic anemia, and most die by 4 days of age, even on a mixed background, but a single blood transfusion in the first days of life can foster survival of homozygotes. On a mixed C57BL/6J x WB/Re background transfused homozygotes generally survive to adulthood and are reported to have a mean life expectancy of 3.7 months. The hemolytic anemia phenotype of these adults includes decreased hematocrit, very low red blood cell count, reticulocytosis, microcytosis, bilirubinemia, extensive iron accumulation in the kidney, elevated blood urea nitrogen, hydronephrosis, hepatomegaly, splenomegaly of predominantly red pulp, and cardiomegaly, but less severe thrombosis than is found in mice homozygous for the mutation spherocytosis (Spna1^sph). The erythrocytes are extremely fragile and have a very short lif ..... For more information please see the full phenotype on the strain data sheet
002037	B6.129P-cpy/J	Cryopreserved - Ready for recovery

000631	B6.129P1-Lama2^dy/J	Cryopreserved - Ready for recovery
	Mice homozygous for the dystrophia-muscularis spontaneous mutations (Lama2^dy and Lama2^dy-2J) are characterized by progressive weakness and paralysis beginning at about 3 1/2 weeks of age. The hindlimbs are affected first, later the axial and forelimb musculature. Death usually occurs before 6 months of age, and mutant mice are usually sterile. Skeletal muscle shows degenerative changes with proliferation of sarcolemmal nuclei, increase in amount of interstitial tissue, and size variation among individual muscle fibers. In the dorsal and ventral roots of the peripheral nerves, both spinal and cranial, Schwann cells fail to separate and ensheathe axons so that groups of closely apposed naked axons, normally seen only in early stages, persist into adulthood. In the rest of the PNS, the basement membrane of Schwann cells is interrupted by gaps, the internodal gap in the nodes of Ranvier is lengthened, and there is delayed onset of myelination with fewer ..... For more information please see the full phenotype on the strain data sheet
008647	B6.129P2(Cg)-Trpa1^tm1Kykw Tyr^c-2J/J	Cryopreserved - Ready for recovery
	Exons encoding the pore domain of the transient receptor potential cation channel, subfamily A, member 1 gene were deleted in this targeted mutation strain. Animals show reduced sensitivity to pain. RT-PCR of dorsal root ganglia confirmed the absence of mRNA in homozygous mutant mice. Homozygotes are viable and fertile.
002171	B6.129P2-Hprt^b-m3/J	Cryopreserved - Ready for recovery
	HPRT-embryonic stem cells were obtained by selecting for spontaneous mutation by incubation in medium containing 6-thioguanine. HPRT-males have no overt phenotype of abnormal behavior. The mutation is due to a large deletion in the Hprt gene. Mutant mice have no HPRT detectable by Western blot analysis and no detectable HPRT enzyme activity in brain homogenates. They appear to have normal brain purine content, but de novo purine synthesis is accelerated four- to fivefold. The Hprt^b-m3 mutation has been used in preimplantation studies to determine when the maternal and paternal alleles of Hprt are activated during early embryonic development. Either administration of amphetamine or inhibition of adenine phosphoribosyltransferase (APRT) activity stimulates locomotor and stereotypic behaviors in HPRT-deficient mice. However, the null mutant for both Hprt and Aprt does not show the characteristics of Lesch-Nyhan disease.
007240	B6.129S2-Irs1^smla/J	Cryopreserved - Ready for recovery
	These mice carry a spontaneous nonsense mutation in serine 57 of the Irs1 (insulin receptor substrate 1) gene that, in the homozygous state, produces small mice. Only a fraction of smla homozygotes survive to weaning and breeding age with significant losses beginning at postnatal day 21. Repeated backcrosses to C57BL/6J contributed to marked increases in lethality. Postmortem examination identified no significant gross or microscopic abnormalities aside from proportionally decreased stature and muscle wasting in a subset of mice. Western blot analysis of quadriceps muscle tissue demonstrates no detectable protein in mice homozygous for the mutation.
012767	B6.A-Dysf^prmd/GeneJ	Cryopreserved - Ready for recovery
	In these mice the progressive muscular dystrophy (prmd) allele from the A/J inbred strain is introgressed into the C57BL/6 genetic background. Disease onset is observed by 2 months and is characterized by the presence of centronucleated fibers and areas of inflammation. As seen with the original background A/J, mice homozygous for the prmd allele on the C57BL/6J background display an increasing number of centronucleated fibers and impairment in the majority of muscles by 4 months of age. In order of severity, the most affected muscles are psoas, quadriceps femoris, tibialis anterior, and gastrocnemius. Mice exhibit a decreased membrane repair capacity following laser wounding experiments. In an open space assay, mice cover less distance and are less active than wild-type. Mice that are homozygous for this allele are viable, fertile and normal in size. This mutant mouse strain may be useful as a model of limb-girdle muscular dystrophy type 2B (LGMD2B) and Miyoshi myopa ..... For more information please see the full phenotype on the strain data sheet
000783	B6.A-Ush1g^js/J	Cryopreserved - Ready for recovery
	Mice homozygous for the Ush1g^js allele are deaf, circle, and toss their heads from side to side. They are viable and fertile but due to their circling gait females may trample their pups and thus should not be used for breeding. No auditory brain response was detected from homozygotes at 14, 21, and 30 days of age. At 10-14 days of age the stereocilia of the outer and macular hair cells are disarrayed or missing although no abnormal phenotype is evident in inner hair cells, or in the gross anatomy of the cochlea or vestibule. The steriocilia degeneration in outer hair cells continues but the inner hair cells remain normal at 30-47 days of age. (Dickie and Deol, 1967; Kitamura et al., 1992.)
000521	B6.AK-Foxn1^nu-str/J	Cryopreserved - Ready for recovery
	Mice homozygous for the streaker spontaneous have a phenotype that is very similar to nude mice. In an attempt to offer alleles on well-characterized or multiple genetic backgrounds, alleles are frequently moved to a genetic background different from that on which an allele was first characterized. This is the case for the strain above. It should be noted that the phenotype could vary from that originally described. We will modify the strain description if necessary as published results become available.
009680	B6.B-Vps54^wr/J	Cryopreserved - Ready for recovery
	Mice that are homozygous for this spontaneous mutation on the C57BL/6 background are viable, but infertile and die prematurely. The average lifespan is 3 months, although this can be increased if littermates are present in the cage, the Donating Investigator reports. Homozygotes exhibit progressive locomotor impairment with corresponding motor neuron and muscular degeneration. Homozygous males have defective spermiogenesis and are sterile. Homozygotes of both sexes have reduced serum estrogen. Mitochondria in motor neurons are abnormal. This mutant mouse strain may be useful in studies of Spinal Muscular Atrophy, Distal Hereditary Motor Neuronopathy and Amyotrophic Lateral Sclerosis 1.
000093	B6.B10(D1)-Tyrp1^b-c/J	Cryopreserved - Ready for recovery

000977	B6.B10(PL)-Slc45a2^Uw-dbr/J	Cryopreserved - Ready for recovery

001769	B6.B10Sn-Spnb4^qv-lnd/J	Cryopreserved - Ready for recovery
	Mice homozygous for the lumbosacral neuroaxonal dystrophy spontaneous mutation (qv^lnd) have dystrophic axons in the low lumbar and sacral spinal cord levels. Although the dystrophic axons are present in both grey and white matter, they predominate in dorso-lateral white matter. Homozygous mutant mice can be identified by 3 weeks of age by a slight tremor of the head and slightly smaller size than normal littermates. They develop progressive wobbly gait, mild head tremor, nervous behavior, and a tendency to drag their hind limbs. Homozygotes develop progressive spastic paresis, demonstrated by a marked resistance to passive flexion at about 5 months of age.
000517	B6.BKS-Pcdh15^av-J/J	Cryopreserved - Ready for recovery
	There have been several remutations to Ames waltzer (Pcdh15^av) have occurred in stocks at The Jackson Laboratory. All mice homozygous for these remutations show the characteristic head-tossing, circling, and deafness characteristic of Ames waltzer. Ames waltzer 2J homozygous mutant mice (Pcdh15^av-2J/Pcdh15^av-2J) are more severely afflicted than mice homozygous for the other Jackson (J) remutations. Pcdh15^av-2J/Pcdh15^av-2J homozygotes become disoriented and sink in swim tests; Ames waltzer 3J homozygotes (Pcdh15^av-3J/Pcdh15^av-3J), like Ames waltzer-J (Pcdh15^av/Pcdh15^av), swim with difficulty and circle afloat. In the membranous labyrinth the fluid spaces in the Organ of Corti fail to develop. Later, hair cells and spiral ganglion cells degenerate.
008140	B6.C(Cg)-Atcay^ji/BurJ	Cryopreserved - Ready for recovery
	ji homozygotes can first be identified at approximately 12 days of age by a leaning, zig-zag gait when they attempt to run and by the difficulty they have righting themselves when placed on their backs. Disease progression is rapid such that within two more days mutants are found to crouch on their heels in a squatting position and can not run without falling. Within three to four days of the first symptoms, tetany is seen during exertion or excitement. This is initially most pronounced in the forelegs, which the mice beat up and down during these two- to three-second spasms. Failure to gain weight is seen by the third week of life and it is unclear whether this results from an inability to take in food. The severity and frequency of tetany increases, and during the fourth week weight loss and increased weakness precede death. The mean age of death is approximately 31 days. Tetrahydrobiopterin levels in the brain and GTP cyclohydrolase activity in the liver are lower in ji homoz ..... For more information please see the full phenotype on the strain data sheet
008624	B6.C-Cacng2^stg-3J/LetJ	Cryopreserved - Ready for recovery
	Homozygotes for the stargazer 3 Jackson allele exhibit a much milder phenotype than mice homozygous for the stargazer allele. Mice are identified at 3-4 weeks by an ataxic gait. Although EEG readings show no spike wave discharge, absence seizures are observed. (personal communication) This strain may be useful in studies of epilepsy and voltage-dependent calcium channels.
006559	B6.C-H2-K^bm1/ByBir-Gusb^mps/BrkJ	Cryopreserved - Ready for recovery
	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-K^bm1/ByBir-Gusb^mps/J	Cryopreserved - Ready for recovery
	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.
005068	B6.C-Phex^Hyp-Duk/J	Cryopreserved - Ready for recovery

000001	B6.C3 A/a Mgrn1^md/J	Cryopreserved - Ready for recovery

007623	B6.C3-Cno^cno/LlpJ	Cryopreserved - Ready for recovery
	Mice homozygous for the cappuccino mutation have a severe dilution in coat color and diminished eye pigmentation. The BLOC-1 complex is disrupted and melanosome development appears arrested at an early stage. These homozygotes have significantly increased bleed times due to defective platelet aggregation. This mutation provides a model for Hermansky-Pudlak Syndrome.
000532	B6.C3-Grxcr1^pi/J	Cryopreserved - Ready for recovery
	Beginning at approximately 10 days of age, pi/pi mice first display backing or crab-like movements and by approximately 14 days of age pirouetting is observed. This pirouetting is a spinning movement that involves swinging the head sharply to one side, either left or right, placing the inner rear foot (with the toes facing outward) close to the outer rear foot which then is used to push the mouse in a tight circling motion. This spinning persists for relatively long periods and cyclostat assessment suggests that these mutants do not develop rotational dizziness. Adult pi/pi mice can not swim on the surface of water or in a coordinated manner and are deaf at 21 to 30 days of age as determined by auditory brainstem response and a failure to respond to a variety of sounds. Although the organ of Corti develops normally, degeneration is found by the second week of life. The tectorial membrane is thickened at 12 days of age and subsequently the hair cells degenera ..... For more information please see the full phenotype on the strain data sheet
006557	B6.C3-Gusb^mps-2J/BrkJ	Cryopreserved - Ready for recovery
	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 phenotype on the strain data sheet
000122	B6.C3-Kit^W-44J/J	Cryopreserved - Ready for recovery
	Kit^W-44J heterozygotes have white-tipped feet and a white tail tip although the belly spot standardly found in Kit^W* mutations is very small in this mutant, sometimes restricted to only a few hairs. Homozygotes have a flecked pelt that is predominantly white, especially ventrally, with pigmented patches particularly at the lateral borders. The pigmentation fades with age yielding black-eyed white mice by approximately 9 months of age. While many Kit^W-44J homozygotes are viable, fertility is diminished. Homozygous females have greatly reduced fertility and gonads that are smaller in size with reduced activity. Homozygous males are sterile although spermatogenesis occurs. The Kit^W-44J allele does not produce anemia in either its heterozygous or homozygous state. The red blood cell count, white blood cell count, hematocrit, and mean cell volume are normal. However, bone marrow transplantation experiments reveal that t ..... For more information please see the full phenotype on the strain data sheet
000309	B6.C3-Mgrn1^md/J	Cryopreserved - Ready for recovery

000100	B6.C3-Zbtb16^lu/J	Cryopreserved - Ready for recovery
	Mice homozygous for the luxoid mutation exhibit preaxial polydactly or oligodactly of the hindfeet, preaxial polydactly of the forefeet, tail kinks, tibial hemimelia and occasionally radial hemimelia. Heterozygotes exhibit preaxial polydactly or hyperphalangy of the hindfeet. An increased number of vertebra, ribs and sternebrae are found in homozygotes and to a lesser extent in heterozygotes (Forsthoefel, 1958). Male mice are infertile with a complete lack of spermatogonia after six weeks (Johnson et al., 1971). By eight months, many seminiferous tubules are agametic, lacking one or more germ cell generations (Buaas et al., 2004). Histological and FACS analysis demonstrate that luxoid homozygotes have progressive germ-cell loss starting as early as eight days (Buaas et al., 2004). This mutant mouse strain may be useful in studies related to male infertility or contraception, limb or skeletal abnormalities, and stem cell research.
000449	B6.C3-rs/J	Cryopreserved - Ready for recovery

001772	B6.C3-stu/J	Cryopreserved - Ready for recovery
	Mice homozygous for the stumbler spontaneous mutation (stu) have clinical features suggesting a cerebellar defect. They can be recognized at 12 days of age by a stumbling locomotion characterized by a high-stepping broad-based gait. Homozygous mutant mice become less active with age and progressively smaller than their normal sibs and usually die before weaning. There are fewer than normal Purkinje cells and granule cells from about 10 days of age onward and a consequent smaller size of the cerebellum. The Purkinje cells have small dendritic arborizations and immature spines on their somata. They also have an increased number of mitochondrial profiles both in cell bodies and in swellings on dendrites. The morphology of the granule cells appears normal.
008622	B6.C3Bir-Cacna1a^tg-4J/LetJ	Cryopreserved - Ready for recovery
	Homozygotes for the tottering 4 Jackson allele exhibit a phenotype similar to that of mice homozygous for the tottering allele. Mice have an ataxic gait, with high stepping, waggling movements and paroxysomal dyskinesia. EEG recordings reveal 5-7 Hz spike wave discharges accompanied by behavioral arrest lasting up to 1.8 sec and ocurring an average of four times per hour. This seizure phenotype is less severe than in tottering mice. Unique among the tottering alleles, tg-4J causes altered activation and inactivation kinetics of the voltage-dependent calcium channel. This strain may be useful for studies of epilepsy and voltage-dependent calcium channels.
000050	B6.C3Fe-H51 Hps1^ep /ByJ	Cryopreserved - Ready for recovery

000525	B6.C3Fe-Hps1^ep/J	Cryopreserved - Ready for recovery

000991	B6.C58-Kit^W-57J/J	Cryopreserved - Ready for recovery

003713	B6.CAST-Cpe⁺/J	Cryopreserved - Ready for recovery

003712	B6.CAST-Tub⁺/J	Cryopreserved - Ready for recovery

009361	B6.CBA-Btk^xid/AllmJ	Cryopreserved - Ready for recovery
	Mice carrying this X-linked spontaneous mutation in the Bruton agammaglobulinemia tyrosine kinase gene (Btk) are a model of human X-linked immunodeficiency. They have a B-lymphocyte-specific defect that results in an inability to launch an antibody response to thymus-independent type II antigens, although they do produce normal amounts of antibody in response to some protein antigens. They have low serum IgM and IgG3 and a reduced number of B-cells. Moreover, the B-cells that are present have a reduced surface IgM to IgD ratio, which suggests a disorder in B-cell maturation.
006562	B6.CBy(Cg)-Gusb^mps Gpi1^a-m1J/BrkJ	Cryopreserved - Ready for recovery
	Mice homozygous for the "mps" (mucopolysaccharidosis type VII or MPS VII) mutation are devoid of expression of the lysosomal enzyme beta glucuronidase. Homozygous animals are viable, but females have a deficiency in lactation. Skeletal and connective tissue anomalies in both males and females are believed to prevent successful breeding. As this mutation is recessive, heterozygous mice are phenotypically similar to wildtype. Homozygotes exhibit short and thickened long bones (smaller than heterozygous or wildtype littermates), "pug type" appearance of the nose, hepatomegaly, splenomegaly, corneal clouding, and deafness. MPS VII mice are a model of the beta glucuronidase enzyme deficiency in humans called Sly Disease. They may be useful in developing new therapies (enzyme replacement, cell transplantation, gene therapy) broadly applicable to other lysosomal storage diseases.
008000	B6.CBy-Dscam^del17/RwbJ	Cryopreserved - Ready for recovery
	Mice homozygous for this spontaneous mutation become severely uncoordinated by postnatal day 3, developing spontaneous seizures and kyphosis. On a mixed BALB/cBy and C57BL/6 background some homozygotes survive, are fertile and have a normal lifespan. On the C57BL/6 background, homozygotes exhibit a more severe phenotype and die shortly after birth. With the exception of the caudal folium of the cerebellum, the central nervous system appears normal on a gross level, however, the retinal ganglion cell layer and inner plexiform layer exhibit disorganization by postnatal day 4. Retinal amacrine cells display defects in the arborization of processes and spacing of cell bodies. This mutant mouse strain may useful in studies of the retina and the mechanism of neuronal self-avoidance.
003815	B6.CcS3-Spna1^sph-Dem/BrkJ	Cryopreserved - Ready for recovery

000448	B6.Cg-Ank1^nb/BrkJ	Cryopreserved - Ready for recovery
	Normoblastosis homozygotes have a severe normocytic hypochromic anemia and can be identified at birth, or soon thereafter, by their bright orange color, which fades as they mature. They have elevated serum bilirubin and greatly increased fecal urobilinogen and the serum and urine remain highly colored even as the overall body color fades. Homozygotes are smaller than their wildtype and heterozygous siblings and display hepatomegaly, cardiac hypertrophy, marrow hyperplasia, leukocytosis, pronounced splenomegaly and enlarged lymph nodes. Nevertheless, the majority of homozygotes survive to adulthood. Immature red blood cells can be found in high numbers in the peripheral blood, and red cells are hypchromic although of normal or slightly elevated mean cell volume. In addition to hematopoietic defects this ankyrin 1 hypomorph also displays Purkinje cell degeneration such that there is a 50% loss of Purkinje cells at 6 months of age and concomitant tremors and unbalanced gait (Peters ..... For more information please see the full phenotype on the strain data sheet
013040	B6.Cg-Apoe^tm1Unc Ins2^Akita/J	Cryopreserved - Ready for recovery
	Mice homozygous for the Akita spontaneous mutation are stunted and typically die postnatally by 12 weeks of age. Independently, heterozygous Akita mutant mice are a model of insulin dependent diabetes mellitus (IDDM) with severe hyperglycemia (see the datasheet for Stock No. 003548 for additional information). Apoe-null homozygotes have marked increase in total plasma cholesterol levels that are unaffected by age or sex (see the datasheet for Stock No. 002052 for additional information). These double mutant mice (Apoe-null, Akita heterozygous) may be useful in studies of diabetes, metabolism, hyperglycemia, atherosclerosis, hypercholesterolemia, and diabetes-related macrovascular complications.
011075	B6.Cg-Bolt/GrsrJ	Cryopreserved - Ready for recovery
	Mice carrying the dominant mutation lightning bolt tail have variable-length kinked tails, curved spine, and abnormal spinal vertebral bodies. When picked up by the tail, carriers orient their rear legs in abnormal positions. Only 25% of the offspring of heterozygote x heterozygote crosses express the lightning bolt tail phenotype suggesting prenatal lethality.
006408	B6.Cg-Dab1^scm-3J/J	Cryopreserved - Ready for recovery
	By 2 weeks of age, mice homozygous for the scrambler 3 Jackson mutation are smaller than their littermates and ataxic with a severely unstable gait and inability to right themselves. They rarely survive beyond 3 weeks of age, although heterozygotes have a normal lifespan. Histology of homozygotes shows disorganization of the hippocampal layers and a lack of cerebellar folia. The scrambler 3 Jackson mutation causes a more severe phenotype than does the scrambler 2 Jackson mutation.
006429	B6.Cg-Dwh/GrsrJ	Cryopreserved - Ready for recovery
	Mice carrying the dominant mutation dispersed white hair on this predominantly C57BL/6J background have white hairs dispersed throughout the normally black coat along with patches of white hairs on the back or belly.
001044	B6.Cg-Exoc6^hbd/J	Cryopreserved - Ready for recovery
	Mice homozygous for the spontaneous mutation hbd exhibit microcytic anemia, red cell hypochromia and microcytosis, reticulocytosis (Bannerman et al., 1986), and low levels of hemoglobin. Microcytic anemia can be cured by bone marrow transplantation from normal donors (Bloom et al., 1997). Homozygotes can live to 23 months of age, however, B-cell homeostasis is compromised in older mice (Lipovsky et al., 2003). Heterozygotes do not display a clinical phenotype.
014101	B6.Cg-Grhl1^m1J/GrsrJ	Cryopreserved - Ready for recovery
	Mice homozygous for the Grhl1^m1J mutation are smaller than normal and develop an ichthyotic balding first evident at 1.5 weeks of age. They are nearly bald by wean age and continue to have sparse coats throughout adulthood.
007787	B6.Cg-Grxcr1^pi-4J/J	Cryopreserved - Ready for recovery
	Mice homozygous for the pirouette 4 Jackson mutation display bi-directional circling and are completely deaf as early as 5 weeks of age. Consistent with a vestibular defect, they fail to swim at the surface of water, but instead roll underwater and sink before rescue.
006407	B6.Cg-Gusb^mps/BrkJ	Cryopreserved - Ready for recovery
	Mice homozygous for the "mps" (mucopolysaccharidosis type VII or MPS VII) mutation are devoid of expression of the lysosomal enzyme beta glucuronidase. Homozygous animals are viable, but females have a deficiency in lactation. Skeletal and connective tissue anomalies in both males and females are believed to prevent successful breeding. As this mutation is recessive, heterozygous mice are phenotypically similar to wildtype. Homozygotes exhibit short and thickened long bones (smaller than heterozygous or wildtype littermates), "pug type" appearance of the nose, hepatomegaly, splenomegaly, corneal clouding, and deafness. These mice have the 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	Cryopreserved - Ready for recovery
	Androgen induction of Gus is faster but lower in M. saxicola than in Mus musculus. However, growth hormone induces Gus upregulation in Mus musculus but has no affect on Gus induction in Mus saxicola. When transferred to a Mus musculus background in the absence of endogenous Gus the Mus saxicola derived Gus (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.)
001737	B6.Cg-Hr^hr H2-T18^a/J	Cryopreserved - Ready for recovery
	Mice homozygous for the hr mutation have a higher incidence and earlier onset of leukemia, reducible by virus-specific antibody. Deficiency of splenic T helper cells (Ly-1+) may account for low cellular immune response of homozygous mutant mice. The coat is normal on hr/hr mice up to 10 days but then hair is lost from the follicle. Waves of hair growth with few thin fuzzy hairs ocur at monthly intervals for some time but homozygotes eventually become continuously hairless. Vibrissae are repeatedly regrown and shed, becoming more abnormal with age. Toenails are long and curved. There is hyperkeratosis of statified epithelium and the upper part of hair canals beginning at 14 days. Hair club formation is abnormal. Cysts form from the hyperkeratotic upper part of hair canals and sheaths of abnormal follicles stranded in dermis. Some cysts also form from sebaceous glands. All cysts undergo sebaceous transformation and later keratinization. In an attempt to offer alleles ..... For more information please see the full phenotype on the strain data sheet
006580	B6.Cg-Ins2^Akita Ldlr^tm1Her/J	Cryopreserved - Ready for recovery
	Mice homozygous for the Akita spontaneous mutation die postnatally, typically by 12 weeks of age. Independently, heterozygous Akita mutant mice are a model of insulin dependent diabetes mellitus (IDDM) with severe hyperglycemia (see the datasheet for Stock No. 003548 for additional information). LDLR-null homozygotes have elevated serum cholesterol levels (200-400 mg/dl) which can escalate to very high levels (> 2000 mg/dl) when the mice are fed a high fat diet. LDLR-deficient mice also are predisposed to develop atherosclerosis. These double mutant mice may be useful in studies of diabetes, metabolism, hyperglycemia, atherosclerosis, hypercholesterolemia, and diabetes-related macrovascular complications.
000164	B6.Cg-Kit^W/J	Cryopreserved - Ready for recovery

008656	B6.Cg-Kitl^Sl-gb/MbeJ	Cryopreserved - Ready for recovery
	The 120 Kb deletion in the spontaneous mutation, grizzle belly, represents the smallest complete deletion among the Kit ligand (Steel) alleles. Mice homozygous for the mutation die just before or after birth. Mice that survive to postnatal day 1 display a substantial decrease in peripheral red blood cells (RBC) and a severe anemia. Heterozygotes exhibit a mild anemia, and some decrease in peripheral RBC. In the homozygous embryo there is an absence of primordial germ cells (PGCs) by E11.5; an intermediate number of PGCs are found in the heterozygote. Like the other mutations at the Steel locus, this allele causes abnormal pigmentation. Heterozygotes can be identified by a head spot and light belly. This strain may be useful for research in hematopoiesis, pigmentation and gametogenesis.
006906	B6.Cg-Lep^ob Ldlr^tm1Her/J	Cryopreserved - Ready for recovery
	Independently, the C57BL/6-Lep^ob homozygotes (Stock No. 000632) model the increasingly prevalent metabolic disorder seen in humans (hyperglycemia, hyperinsulinemia, and hyperlipidemia), while LDLR-deficient mice (Stock No. 002207) are predisposed to atherosclerosis. When mutant mice are homozygous for both mutant alleles, they exhibit exacerbated hyperlipidemia and extensive atherosclerotic lesions in the aorta. The mice may be useful in studies of diabetes, metabolism, hyperglycemia, atherosclerosis, and hypercholesterolemia.
000071	B6.Cg-Mcoln3^Va/J	Cryopreserved - Ready for recovery
	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 phenotype on the strain data sheet
000184	B6.Cg-Mitf^Mi-wh/Mitf^mi-rw/J	Cryopreserved - Ready for recovery
	Mutations at the Mitf locus affect eye size, pigmentation, and the capacity for secondary bone resorption. Mice homozygous for the red-eyed white spontaneous mutation Mitf^mi-rw have some pigmentation around the neck and have small red eyes. Compound heterozygotes of white and red-eyed white (Mitf^Mi-wh/Mitf^mi-rw) are mostly white with tan spots and red eyes.
010494	B6.Cg-Mpz^ttrr/GrsrJ	Cryopreserved - Ready for recovery
	Mice homozygous for the totterer mutation exhibit mild tremors at approximately 2 weeks of age with worsening muscle weakness such that by 6 to 8 weeks of age they display a shaking, limb grasping, hunched, sprawled, tottering walk and develop late-onset clinical paralysis. Premature death results. Homozygotes are poor breeders, reproducing at most once or twice, and females are poor mothers.
006124	B6.Cg-Myo6^sv-2J/J	Cryopreserved - Ready for recovery
	Mice homozygous for the Snell?s waltzer 2 Jackson mutation display circling and head tossing behavior and are deaf. They are unable to orient in water to swim.
005089	B6.Cg-Qk^qk-2J/GrsrJ	Cryopreserved - Ready for recovery
	Qk^qk-2J homozygotes display rapid tremors by approximately 2 weeks of age. Histological examination at 3 weeks of age reveals holes in the striatum of the cortex and cerebellum and in the myelin of the spinal cord. Vision and hearing appear normal.
005250	B6.Cg-Reln^rl-4J/GrsrJ	Cryopreserved - Ready for recovery
	Mice homozygous for the reeler 4 Jackson remutation are smaller than their littermates by 2 weeks of age and have an ataxia such that they lean side-to-side when trying to walk and often fall over on their side. Many die by wean age. At 3 and 3.5 weeks of age histological assessment reveals scrambled layering in the cortex, smaller than normal cerebellum with scrambled Purkinje and granule cells, and neurons of the hippocampal gyrus scattered in an irregular wavy layer.
006210	B6.Cg-Spna1^ihj/LlpJ	Cryopreserved - Ready for recovery
	Although normal in appearance at birth, homozygotes are smaller than normal by 2 days of age and there is a high rate of neonatal death and death during the first weeks of life and at wean age with some homozygotes surviving to adulthood. Those that survive to adulthood generally do not survive beyond one year. Pups have delayed hair growth such that the coat does not come in until 8 to 10 days of age. The skin, nails and mucosa have an orange pallor that persists throughout life and the feces are soft and also orange in color. Central phenotypes include hemolytic anemia, microspherocytosis, anisopoikilocytosys, polychromatophily, bilirubinemia, and splenomegaly with mild follicular hyperplasia. Although the spleen is of normal size at birth, at death adult splenic weight is three times normal and the architecture is disrupted. This is sometimes accompanied by hepatomegaly. The kidneys are discolored and have mild tubulonephrosis. Female homozygotes rarely become pregnant and do ..... For more information please see the full phenotype on the strain data sheet
001185	B6.Cg-Spna1^sph-2Bc/BrkJ	Cryopreserved - Ready for recovery

000035	B6.Cg-Tyr^c-J/J	Cryopreserved - Ready for recovery

013110	B6.Cg-Uchl1^gad-2J/GrsrJ	Cryopreserved - Ready for recovery
	Homozygotes are normal in appearance until 6 or 7 weeks of age when weakness of the hindlimbs begins to present through limb grasping or dragging or splaying of the hindlimbs when walking. A progressive decrease in body weight begins at 12 weeks of age and the hind limb atrophy progresses to paralysis and premature death. Homozygotes are not able to breed.
007757	B6.Cg-hml/J	Cryopreserved - Ready for recovery
	Homozygotes have a faith-to-thrive phenotype such that they have a smaller body size and unbalanced gait detectable at 10 days of age. Those that survive to 2 months of age can generally live up to 18 months. The inner ear has extensive hypoplasia of the membranous labyrinth, a rudimentary tectorial membrane, and enlarged scala vestibuli and severe hearing loss or complete deafness are found at 19 days of age both by failed response to sounds and auditory brainstem response analysis. Homozygotes also fail to orient in water.
000446	B6.D1-Spna1^sph-ha/BrkJ	Cryopreserved - Ready for recovery
	Homozygotes provide a molecular and phenotypic model of hereditary spherocytosis type 3 and a phenotypic model for hereditary spherocytosis type 1 and some aspects of sickle cell anemia. Most phenotypic assessment has been performed using F1 homozygous offspring of heterozygotes from the C57BL/6J and WB/Re congenic strains or homozygotes generated on a B6;WB segregating background. Approximately half die by 6 months of age. Homozygotes display hemolytic anemia with spherocytosis, microcytosis, reduced hematocrit, reticulocytisis, extramedullary hematopoiesis in the spleen and liver, lymphocytosis, neutrophilia, lymph node hyperlasia, and cardiac hypertrophy. Homozygotes can be identified within the first day of birth by their jaundiced color. Consequent to the underlying disorder, homozygotes are prone to developing gallstones, pneumonitis, and vaso-occulsive disease in multiple organs.
009659	B6.D2(BKS)-Dock7^m/J	Cryopreserved - Ready for recovery
	The recessive misty mutation causes a mild dilution of coat color and on certain backgrounds a white tail tip often accompanied by a belly spot. Melanocytes from m/m mice have a highly dendritic shape, show deficient proliferation in culture and have much more melanin content. Fewer melanoblasts are found in primary cultures from m/m mice than from wildtype controls. Between two and five weeks of age, m/m mice are smaller than controls. At 35 days of age they are shorter, weigh 15% less on average, and have less inguinal adipose mass than controls. Misty homozygotes completely lack brown fat. Although platelet count, seratonin content and ATP content are normal, there is increased bleed time and reduced platelet AD levels in m/m homozygotes. (Woolley, 1941 and 1945; Truett et al., 1998; Sviderskaya et al., 1998.)
000996	B6.D2-Hbb^d3th/BrkJ	Cryopreserved - Ready for recovery

000541	B6.D2-Hps5^ru2-hz/J	Cryopreserved - Ready for recovery

003799	B6.D2-Scn8a^med-jo/J	Cryopreserved - Ready for recovery

003095	B6.D2-Vac14^ingls/GrsrJ	Cryopreserved - Ready for recovery
	Mice homozygous for the recessive Vac14^ingls mutation are significantly smaller than their littermates, and their coat color is dilute with white underfur both dorsally and ventrally (Sweet 1991; Samples 2003). Most develop hydrocephalus with onset by one week of age. Homozygotes are weak and uncoordinated and have difficulty righting themselves. They fail to gain weight during the second week of life, and most die by three weeks of age. (Bronson et al. 2003) Length of survival appears to correlate with the severity of hydrocephalus, which varies from absent to severe; however, all homozygotes die by four weeks, whether or not they are hydrocephalic (Samples et al. 2003). Hydrocephalus affects the lateral ventricles most severely; serial sections reveal an intact cerebral aqueduct. Diffuse astrocytic hypertrophy and hyperplasia are observed in brains and spinal cords of mutant mice. A few mutants develop status spongiosis, and a few exhibit gliosis a ..... For more information please see the full phenotype on the strain data sheet
004620	B6.L-Whll/J	Cryopreserved - Ready for recovery
	Whll/+ mice have a moderate circling phenotype accompanied by a mild hearing impairment.
002492	B6.MDB-Mbp^shi-mld/J	Cryopreserved - Ready for recovery

001883	B6.MRL-Cacng2^stg-wag/J	Cryopreserved - Ready for recovery

007875	B6.NOD(Cg)-Spna1^sph-3J/LlpJ	Cryopreserved - Ready for recovery
	Mice homozygous for the spherocytosis 3 Jackson mutation provide a model for hereditary spherocytosis and hereditary elliptocytosis. Homozygotes have severe hemolytic anemia with significantly lower red blood cell count, hemoglobin, and hematocrit, and very high reticulocyte counts. Red blood cell smears show microcytosis, spherocytosis, polychromatophilia, poikilocytosis and frequent irregular sphero-elliptocytes. The mean cell volume of red blood cells is not significantly increased. There is elevated bilirubin, iron accumulation is found in the kidney and liver, but iron is depleted from the spleen, where splenomegaly results from the expansion of red pulp. Extramedullary hematopoietic foci are found in the liver.
012306	B6.NOD-tth^2J/KjnJ	Cryopreserved - Ready for recovery
	Homozygotes can be identified by a tilted head and tremor in the gait by 4 weeks of age. Some display circling behavior. They are unable to orient in water, but a severe hearing deficit has not been detected.
004521	B6.PL-Nppc^lbab/GrsrJ	Cryopreserved - Ready for recovery

002550	B6.TF-Slc45a2^uw-d/J	Cryopreserved - Ready for recovery

008723	B6.WB-trls^2J/J	Cryopreserved - Ready for recovery
	Homozygotes display a moderate tremor and smaller body size by 2 weeks of age and progressive weakness and wasting follows leading to death by 3 to 4 weeks of age in nearly all homozygotes.
012625	B6;129-Gla^tm1Kul wblo/GrsrJ	Cryopreserved - Ready for recovery
	Mice both homozygous for the wblo mutation and homozygous or hemizyogus for the Gla^tm1Kul mutation develop a wobbly gait by approximately 5 weeks of age that decreases in severity with age.
005323	B6;129P2 Pemt^tm1J-tnyw/GrsrJ	Cryopreserved - Ready for recovery
	Mice homozygous for the tiny wasting mutation are runted and some have abnormal locomotion or are unable to right themselves. Mutants can be identified by 2 weeks of age and most die by 3 weeks of age. All have vacuoles in the brain.
007947	B6;129P2-He/J	Cryopreserved - Ready for recovery
	Carriers of the helicopter ears mutation have ear pinna angled outward from the head rather than upward, smaller bodies than normal, and smaller genitals, although fertility appears unaffected.
004768	B6;129S4-Ush1c^dfcr-2J/J	Cryopreserved - Ready for recovery
	Mice homozygous for either Ush1c^dfcr or Ush1c^dfcr-2J display head tossing and hyperactive circling. They are unable to orient themselves in water to swim at the surface. Despite these behavioral traits, these mice are able to breed and have normal life spans. Adult homozygotes have no auditory-evoked brainstem response. This complete deafness was found in an Ush1c^dfcr homozygote as early as 21 days of age. Scanning electron micrographs of the organ of Corti at 3 weeks of age reveal disorganized and splayed stereocilia of outer hair cells and, less severely, of inner hair cells along with degeneration of hair cells that yields a disorganized hair cell pattern. While progressive loss of hair cells and a secondary loss of spiral ganglion cells are found and are severe by 8 months of age, no gross morphological abnormalities were discerned in whole mounts of inner ears. At 9 months of age a slight peripheral retinal degeneration i ..... For more information please see the full phenotype on the strain data sheet
000773	B6;129T-Dnahc11^iv/J	Cryopreserved - Ready for recovery
	DNAHC11 is important for developmental control of organ positioning in the left-right axis such that homozygosity for the situs inversus viscerum (iv) mutant allele can result not only in inverse placement of the visceral and thoracic organs, but also in anomalous positioning and interactions of blood vessels (including the hepatic portal, inferior vena cava, and azygos vein) and modified shape of organs and blood vessels, including abnormal lobation of lungs or liver. Approximately 50% of mice homozygous for Dnahc11^iv have situs inversus, and the likelihood of situs inversus is not impacted by whether the homozygous parent has situs inversus. This indicates that wild type Dnahc11 instructs left-right asymmetry, and in the absence of functional Dnahc11 the direction of this asymmetry is random. Heterotaxia is found in less than half of homozygotes and occurs equally in those that do and do not have situs inversus. W ..... For more information please see the full phenotype on the strain data sheet
004502	B6;AKR-Lxl2/GrsrJ	Cryopreserved - Ready for recovery
	This dominant mutation causes the animal to present with all four limbs at odd angles to the body. There are extra toes on all four limbs and the rear legs are oriented backward. Severe arthritis of the knee was observed in one female, but no other histological lesions were seen.
001025	B6;B10-Hps3^coa/J	Cryopreserved - Ready for recovery

006157	B6;B10SnJ-baw/J	Cryopreserved - Ready for recovery
	The mutation black and white (baw) causes a light coat color on the ventrum of affected mice. The pattern is like that seen on mice carrying the black and tan mutation (a^t), but the hair is white on baw homozygotes rather than tan. In addition, the remaining coat is flecked with white hairs, particularly obvious as the mice age.
010816	B6;C-Ghrhr^lit Prkdc^scid/BmJ	Cryopreserved - Ready for recovery
	B6;C-Ghrhr^litPrkdc^scid/BmJ mice are deficient in growth hormone and IGF1 and are useful for determining endocrine dependence of grafted cells and tissues (Beamer et al., 1993, Cancer Research, v53:3741; Friend et al., 2001 Growth Hormone & IGF Research, v11:84).
003506	B6;C-Npr3^lgj/J	Cryopreserved - Ready for recovery

004200	B6;CBACa A^w-J/A-Npr2^cn-2J/GrsrJ	Cryopreserved - Ready for recovery
	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.
000785	B6;D2-a Ces1c^e/EiJ	Cryopreserved - Ready for recovery
	Mice homozygous for Ces1c^e are viable and fertile and exhibit no apparent defect. Ces1c^e was discovered in a screen of progeny of triethylenemelamine (TEM) treated male mice for mutations at specific loci, but appears to have pre-existed in the male. The screen employed analysis of blood and kidney homogenates by "standard starch gel electrophoresis techniques" and focused on enzymes known to differ in electrophoretic mobility between the parental strains (DBA/2J and C57BL/6J). Ces1c^e was initially thought to be a null allele, but characterization of homozygous F2 mice demonstrated presence of a faint band migrating between those of the parental strains, which was not perceived in the presence of either parental band. Thus, Ces1c^e was shown to be a hypomorphic electrophoretic variant (Soares 1979).
000125	B6By.Cg-Sox18^Ra Pt Os/J	Cryopreserved - Ready for recovery
	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 phenotype on the strain data sheet
002996	B6ByJ;D2-Spnb4^qv-4J/J	Cryopreserved - Ready for recovery

000505	B6C3 A^w-J/A-Muted^mu/J	Cryopreserved - Ready for recovery
	Mice homozygous for the muted spontaneous mutation (Muted^mu) have light eyes at birth and their fur is a muted brown shade, often with white underfur. Some have a balance defect, similar to that of pallid (Pldn^pa). Homozygous mutant mice show head-tilting and loss of postural reflexes, due to absence of otoliths from the sacculus and utriculus of one or both ears. The bony labyrinth is normal; the mice are not deaf and do not circle. Mutant mice have prolonged bleeding times and a platelet storage pool deficiency (SPD) associated with abnormalities of the dense granules of the blood platelets. The combination of pigment, otolith, and SPD abnormalities also occurs in two other mouse mutants, pallid and mocha (Ap3d1^mh), and is also seen in human Hermansky-Pudlak syndrome.
000604	B6C3 a/A-T(10;13)199H +/+ Lyst^bg-J/J or Lyst^bg-2J/J	Cryopreserved - Ready for recovery

001750	B6C3Fe a/a-Eif3c^Xs-J/J	Cryopreserved - Ready for recovery

002807	B6C3Fe a/a-Meox2^fla/J	Cryopreserved - Ready for recovery

000506	B6C3Fe a/a-Qk^qk-v/J	Cryopreserved - Ready for recovery
	Mice homozygous for the quaking spontaneous mutation (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.
000224	B6C3Fe a/a-Scyl1^mdf/J	Cryopreserved - Ready for recovery
	Mice homozygous for the muscle deficient spontaneous mutation (Scyl1^mdf) are first recognizable at 5 to 6 weeks of age. Homozygous mutant mice are slightly smaller than normal, have a waddling gait, and often have a nervous tremor. By 12 weeks of age, they can progress only by pulling themselves forward with their forelimbs. Fertility is low in both males and females. Homozygotes have a marked reduction of muscle mass in the sartorius, vastus lateralis, and rectus femoris, and a lesser reduction in forelimb muscles. Histologically, there is atrophy of both type I and type II muscle fibers.
001037	B6C3Fe a/a-Agtpbp1^pcd/J	Cryopreserved - Ready for recovery
	Mice homozygous for the Purkinje cell degeneration spontaneous mutation (pcd) show a moderate ataxia beginning at 3 to 4 weeks. Homozygous mutant mice are somewhat smaller than normal but may live a fairly normal life span. Males have abnormal sperm and are sterile. Females are fertile but are poor breeders. There is rapid degeneration of nearly all Purkinje cells beginning at 15 to 18 days, and a slower degeneration of the photoreceptor cells of the retina and mitral cells of the olfactory bulb. Degeneration of Purkinje cells is followed by partial loss of granule cells. Discrete serotonin-immunoreactive fibers, which ascend to all three layers of the cerebellar cortex in normal controls, are of much higher density and form multidirectional contours in homozygotes. In the retina of homozygous mutant mice, pycnotic nuclei begin to appear in the photoreceptor cells between 18 and 25 days, and the outer rod segments become disorganized. Degeneration of the photoreceptor cells proc ..... For more information please see the full phenotype on the strain data sheet
002062	B6C3Fe a/a-Atp7a^Mo-8J/J	Cryopreserved - Ready for recovery
	Hemizygous males die 7-12 days after birth.
000210	B6C3Fe a/a-Edar^dl-J/J	Cryopreserved - Ready for recovery

000182	B6C3Fe a/a-Eef1a2^wst/J	Cryopreserved - Ready for recovery
	Mice homozygous for the wasted spontaneous mutation (Eef1a2^wst) can be recognized at 20 days of age by tremor and uncoordinated body movements. Homozygous mutant mice develop progressive paralysis and do not survive beyond 30 days. They have marked lymphoid hypoplasia in the spleen, thymus, lymph nodes, and peripheral blood. Wasted mice have a severely reduced number of IgA plasma cells in the entire large and small intestines, but the number of such cells in the spleen and the level of serum IgA are normal. Neuronal degeneration occurs in the brain and spinal cord. Spinal cord abnormalities are preceded by gliosis following along a rostrocaudal gradient. Thoracic/abdominal muscles exhibit a progressive denervation of muscle fibers, with progressive asynchronous retraction of motor nerve terminals. (Newbery HJ, et al. 2005)
002875	B6C3Fe a/a-Hoxd13^spdh/J	Cryopreserved - Ready for recovery
	The spdh/spdh mutants have a normal body size but exhibit shortened, fused, and duplicated digits in both front and rear feet. Ossification is severely delayed and ossification centers are mis-patterned in developing metacarpal, metatarsal and phalangeal bones. Joint formation is severely disrupted in the phalanges, with forelimbs more affected compared to the hindlimbs. Reduced rates of proliferation and differentiation of mutant chondrocytes contribute to altered cartiledge/bone morphology. Although expression patterns of Hoxd13/11/12 and Hoxa13 do not seem to be disrupted, their function does seem to be disrupted, indicating HOX protein interactions are altered as a result of the spdh mutation. Additionally, the spdh mutant phenotype is much more severe than mutants carrying a targeted disruption of the spdh gene, supporting a dominant-negative effect. The preputial glands of the genital tract are absent in both male and female spdh ..... For more information please see the full phenotype on the strain data sheet
001035	B6C3Fe a/a-Napa^hyh/J	Cryopreserved - Ready for recovery
	Although no overt phenotype is appearant in newborn hyh mice, they have dilated lateral ventricles. By 2 weeks of age, an outward phenotype of a domed head and a hop gait is apparent. Dissection and histological examination reveal "hydrocephalus of lateral and third ventricles and of the caudal aspects of the cerebreal aquiduct" increasing in severity with age (Bronson et al., 1990). Homozygotes have a decreased lifespan usually dying before 2 months of age. Some homozygotes will live for several months, but usually will not breed.
000181	B6C3Fe a/a-Otog^twt/J	Cryopreserved - Ready for recovery
	When mice homozygous for the twister spontaneous mutation (twt) are picked up by the tail, all affected mice tuck their heads. Homozygous mutant mice may show circling behavior or tilted heads and none can swim. These mice are deaf.
000278	B6C3Fe a/a-Papss2^bm Hps1^ep Hps6^ru/J	Cryopreserved - Ready for recovery

000205	B6C3Fe a/a-Papss2^bm/J	Cryopreserved - Ready for recovery

002078	B6C3Fe a/a-Pcdh15^av-2J/J	Cryopreserved - Ready for recovery
	There have been several remutations to Ames waltzer (av) that have occurred in stocks at The Jackson Laboratory. All mice homozygous for these remutations show the characteristic head-tossing, circling, and deafness characteristic of Ames waltzer. Ames waltzer 2 Jackson homozygous mutant mice (av^2J/av^2J) are more severely afflicted than mice homozygous for the other Jackson (J) remutations. av^2J/av^2J homozygotes become disoriented and sink in swim tests; Ames waltzer 3 Jackson homozygotes (av^3J/av^3J), like Ames waltzer Jackson homozygotes (av^J/av^J), swim with difficulty and circle afloat. In the membranous labyrinth the fluid spaces in the Organ of Corti fail to develop. Later, hair cells and spiral ganglion cells degenerate.
000246	B6C3Fe a/a-Pitpna^vb/J	Cryopreserved - Ready for recovery
	Mice homozygous for the vibrator spontaneous mutation (Pitpn^vb) are recognizable at 10 to 12 days of age by a fine rapid tremor. This is followed by a degenerative phase in which there is progressive development of ascending motor paralysis and coarse cerebellar tremor, and finally a terminal phase in which there is loss of consciousness and death. Death occurs by 30 days of age in vibrator mutant mice on an inbred genetic background but many derived from outcrosses may live to 6 months. Mammary glands in homozygotes exhibit underdeveloped alveolar and ductal structures and the fat pad is composed predominantly of brown adipose tissue (Monaco et al., 2004). Neutral lipids are increased two to four fold in the livers of homozygotes (Monaco et al., 2004). The expression of phosphatidylinositol transfer protein alpha is decreased 65-85% compared to wildtype littermates (Monaco et al., 2004).
001430	B6C3Fe a/a-Ptch1^mes/J	Cryopreserved - Ready for recovery
	Mice homozygous for the mesenchymal dysplasia spontaneous mutation (mes) have a shortened face, wide set eyes, excessive skin, belly spot, kinked tail, preaxial polydactyly, and thickened foot pads. Homozygous mutant mice also display mineralization of tendons and multiple skeletal defects. Both sexes are infertile. Male mice have cryptorchid testes.
000237	B6C3Fe a/a-Rora^sg/J	Cryopreserved - Ready for recovery
	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.
000290	B6C3Fe a/a-Sox10^Dom/J	Cryopreserved - Ready for recovery

003612	B6C3Fe a/a-Trak1^hyrt/J	Cryopreserved - Ready for recovery

001607	B6C3Fe a/a-Unc5c^rcm/J	Cryopreserved - Ready for recovery
	The cerebellum of mice homozygous for the rostral cerebellar malformation spontaneous mutation (Unc5c^rcm) is smaller with fewer folia, there are ectopic cerebellar cells in the midbrain, and abnormal neuronal migration. Homozygous mutant mice are ataxic and experience growth retardation early in life. Homozygous males usually do not breed.
000005	B6C3Fe a/a-Wc/J	Cryopreserved - Ready for recovery
	Homozygotes die in utero and some of the more severely affected heterozgyotes will die before wean age. Heterozygotes can be identified by 5 days of age by the sparce, wavy coat, diluted coat color, fuzzy hair on the head and upper back, and wavy vibrissae. Some have dry, scaly skin and fail to develop hair.
000243	B6C3Fe a/a-Wnt1^sw/J	Cryopreserved - Ready for recovery
	Mice homozygous for the swaying spontaneous mutation (Wnt1^sw) sway to one side or the other when attempting to move and may then pivot clockwise or counterclockwise around their rear legs. Homozygous mutant mice display marked ataxia and hypertonia that is probably attributable to malformations of the anterior vermis of the cerebellum and of the colliculi. The cerebellum is divided on the midline by a deep dorsal sagittal fissure extending from the leptomeninges down to the level of the fourth ventricle. The probable cause is failure of the midline fusion of the cerebellum.
008044	B6C3Fe a/a-bpck/J	Cryopreserved - Ready for recovery
	Mice homozygous for the bpck deletion develop bilateral polycystic kidneys and die by 3 weeks of age. There is an increased incidence of hydrocephalus. Homozygotes can be identified by their smaller size and swollen abdomens. At 2 weeks of age elevated blood urea nitrogen is found. Ovaries and testes are smaller than normal and progression of maturing cells from spermatocytes to spermatids is disorganized at 3 weeks of age. The primary cilia on the kidney proximal tubule epithelial cells are dysmorphic and vary in length at birth and by 14 days of age cilia are significantly longer than normal. Through overlapping BAC rescues the polycystic kidney disease and hydrocephalus has been traced to the absence of the Tmem67 gene. Although lacking some of the ancillary phenotypes associated with Meckel Syndrome Type 3 in humans, this deletion offers a model for that disease.
002339	B6C3Fe a/a-nma/J	Cryopreserved - Ready for recovery
	nma arose spontaneously in 1985 on the CBA/J inbred strain at The Jackson Laboratory. From the age of 12 days, mice homozygous for nma are smaller than their normal littermates, weighing 50% less. They exhibit an abnormal gait, in which the hind legs extend past the front legs, and hind limb weakness that causes the mice to fall to the side. When sitting, nma/nma mice overextend their rear legs and prop themselves up in the shavings or against the cage wall. When picked up by the tail, homozygotes extend their rear legs briefly, then clasp their hind feet. They cannot orient themselves in water and spiral to the bottom of the tank. nma/nma mice survive only a few days past weaning, even with food and water made readily available. Heterozygotes appear normal behaviorally, histologically and biochemically. Examination of serial sections through the entire brain revealed no abnormalities. The spinal cord motor neurons, spinal roots, ganglia and nerves were ..... For more information please see the full phenotype on the strain data sheet
000240	B6C3Fe a/a-soc/J	Cryopreserved - Ready for recovery

000063	B6C3Fe a/a-sy/J	Cryopreserved - Ready for recovery
	Most mice homozygous for the shaker-with-syndactylism mutation (sy) die within the first month, and none have lived to breed. Homozygous mutant mice may be syndactylous on all four feet; the forefeet may often be normal and possibly one or both hindfeet very occasionally so. The remainder of the skeleton shows many slight anomalies in addition to small size. The shafts of the long bones are considerably thinner than normal, and there are differences in shape of the sacral vertebrae and the scapula. Abnormal behavior appears during the first week. It consists of head-tossing and some circling, and the affected mice are always deaf. Abnormalities of the labyrinth can be seen at E13.
001055	B6C3Fe a/a-tip/J	Cryopreserved - Ready for recovery
	Mice homozygous for the tippy spontaneous mutation (tip) are small, hyperactive, cannot stand or walk without falling over, and die by 20 to 25 days of age.
000245	B6C3Fe a/a-tn/J	Cryopreserved - Ready for recovery
	Mice homozygous for the teetering spontaneous mutation (tn) die between 5 and 6 weeks of age. Homozygous mutant mice are first recognizable at 25 to 30 days by their stiff, slow, unstable movements and their growth retardation. They may assume and maintain unusual postures. Occasionally they have running "fits". Just prior to death they look emaciated and lie on their sides with all limbs extended. In the brainstem and spinal cord there is dysgenesis of selective regions including the pons, trapezoid body, olivary and fastigial nuclei, and the pyramidal tract. There is also progressive Purkinje cell loss.
000065	B6C3Fe a/a-we Pax1^un a^t/J	Cryopreserved - Ready for recovery
	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	Cryopreserved - Ready for recovery
	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 phenotype on the strain data sheet
000019	B6C3Fe-a/a-Itpr1^opt/J	Cryopreserved - Ready for recovery
	Mice homozygous for the opisthotonus spontaneous mutation (Itpr1^opt) display a characteristic upward arching of head and tail. Homozygous mutant mice can be recognized at about 10 days of age by their loss of balance when standing or moving. Typical behavior of 15 to 20 day old homozygotes consists of falling over and struggling to get up. Agitation and severe opisthotonus ensue with death occuring by weaning age or before.
006549	B6C3Fe-Del(2Hoxd8,Hoxd9-Hoxd13)1Cx/Cx	Cryopreserved - Ready for recovery
	Heterozygous mice exhibit a visible hindlimb paralysis. A much more severe paralysis with digit abnormalities is observed in homozygous mice.
000956	B6CB-Mitf^mi-rw/J	Cryopreserved - Ready for recovery
	Mutations at the Mitf locus affect eye size, pigmentation, and the capacity for secondary bone resorption. Mice homozygous for the red-eyed white spontaneous mutation Mitf^mi-rw have some pigmentation around the neck and have small red eyes.
001046	B6CBACa A^w-J/A-Grid2^Lc/J	Cryopreserved - Ready for recovery
	Mice heterozygous for the lurcher spontaneous mutation (Grid^Lc) show a characteristic swaying of the hindquarters and a jerky up and down movement. They are identifiable with sureness by their behavior at 12 to 14 days of age. Homozygous mutant micedie shortly after birth but have no visible abnormalities and show severe postnatal loss of Purkinje cells and granule cells. Virtually no Purkinje cells are found in adults and granule cells are reduced to about 10% of normal. The number of neurons in the inferior olivary nucleus falls to about 25% of normal. Other cell populations are normal. The Lc mutation induces apoptotic programmed death of the cerebellar cortical Purkinje cells. Homozygous mutant mice are reproducibly deficient in defined cell populations and thus have been used to study cerebellar function and the distribution of various brain components on cerebellar cells.
000500	B6CBACa A^w-J/A-Gs/J	Cryopreserved - Ready for recovery

002703	B6CBACa A^w-J/A-Hydin^hy3/J	Cryopreserved - Ready for recovery
	Mice homozygous for the hydrocephalus 3 spontaneous mutation (Hydin^hy3) are usually identifiable at 3 to 5 days. Those with frank hydrocephalus die by 4 or 5 weeks of age. The lateral ventricles and the third ventricle are enlarged, the aqueduct of Sylvius and the fourth ventricle are only slightly affected, and there is some dilatation of the ventral subarachnoid cistern. The hydrocephalus seems to be due to a defect in the subarachnoid space under the calvarium caused by an abnormal postnatal differentiation of the arachnoid mater and pia mater which prevents their separation. Penetrance is incomplete.
000247	B6CBACa A^w-J/A-Kcnj6^wv/J	Cryopreserved - Ready for recovery
	Mice homozygous for the weaver spontaneous mutation (Kcnj6^wv) are recognizable in the second postnatal week by their small size, instability of gait, weakness, and hypotonia. Many homozygous mutant mice die at weaning age, but some survive to adulthood, and females may breed. The cerebellum in homozygous mutants is very small, simple, and almost devoid of granule cells, which degenerate during the second week. Heterozygotes behave normally, but they have a smaller than normal cerebellum with a deficiency of granule cells, some of which fail to migrate into the internal granule layer and remain scattered in the molecular layer. Evidence from cultures of mutant and normal cerebellum show that granule cells of Kcnj6^wv/Kcnj6^wv and Kcnj6^wv/+ mice have gene-dosage dependent abnormalities in morphology and cell behavior. Studies using homozygous weaver/wildtype chimeras indicate that the migration defect of granule cells ..... For more information please see the full phenotype on the strain data sheet
000515	B6CBACa A^w-J/A-Sfn^Er/J	Cryopreserved - Ready for recovery
	This mutation shows complete penetrance in heterozygotes. These mice grow a normal appearing but probably somewhat dry first coat until the age of about 13 days; then hair loss begins and continues until the fur becomes sparse. Repeated growth and re-epilation follow without a definite pattern. Heterozygotes are slightly reduced in size and some may die before weaning, but adults are fully viable and fertile. Homozygotes die at birth from inability to breathe because of a closed oral cavity. At embryonic day 17 the skin of homozygotes is extremely thin and smooth with few vibrissae and hair follicles. The snout is truncated and the mouth closed. The limbs and tail are greatly shortened and held close to the trunk and the anal and urogenital orifices are closed. There are marked skeletal abnormalities and cleft palate. Homozygotes can be recognized at 13 days of gestation by their blunt limbs and stumpy tail. Between 13 and 15 days the nares and oral opening close, resulting in marked c ..... For more information please see the full phenotype on the strain data sheet
000242	B6CBACa A^w-J/A-spc/J	Cryopreserved - Ready for recovery

000288	B6CBACa A^w-J/A-we a Mafb^kr/J	Cryopreserved - Ready for recovery

000508	B6D2-Sox18^Ra-Op/J	Cryopreserved - Ready for recovery
	The Sox18^Ra-Op allele causes a more severe phenotype than either the Sox18^Ra or Sox18^Ra-J allele. Green and Mann determined that only approximately 17% of the Sox18^Ra-Op/+ heterozygotes are born and survive to wean age. Heterozygotes have a deficiency of vibrissae, a distinguishing feature in utero and usually evident at birth, and can be distinguished at three days of age by their pink skin which, with its delayed coat development, fails to darken like that of wildtype siblings. A paucity of fur is apparent by 9 days of age and persists throughout life. Heterozygotes are smaller in overall size and many of those that die shortly after birth are cyanotic and edematous. Dead pups have glossy skin with red patches that may result from superficial hemorrhages. Homozygotes die by embryonic day 11.5. (Green and Mann, 1961; Mann, 1963.)
002622	B6Ei.Cg-pwk/J	Cryopreserved - Ready for recovery
	Homozygous patchwork mice have hairs that are either totally white or totally pigmented, but no diluted coloration of the hair. On a nonagouti background this produces a salt-and-pepper appearance from white hairs juxtaposed with black hairs. This occurs throughout the coat and does not vary by anatomic region. The absence of pigment in the white hairs is due to an absence of melanocytes in the hair follicles of the white hairs; functioning melanocytes are present in the hair follicles of the black hairs. The absence of melanotyes in the follicles of the white hairs results from premature death of melanoblasts during development. TUNEL staining indicates that this melanoblast death is apoptotic and begins around embryonic day 18.5. This suggests that patchwork melanoblasts can survive and function if enough survive, but fail to survive when adequately reduced in number. Analysis of aggregation chimeras between patchwork and albino donors revealed gray hairs at the boundaries bet ..... For more information please see the full phenotype on the strain data sheet
017764	B6Ei.LT-Y(IsXPAR;Y)Ei Tyrp1^B-lt/EiJ	Cryopreserved - Ready for recovery
	This strain contains an abnormal LT/Sv-derived Y Chromosome comprising a spontaneous rearrangement (Eicher et al. 1991), formally designated Y(IsXPAR;Y)Ei and informally called Y. Burgoyne et. al, (1998), updated the original description of the cytogenetic changes in this abnormal Y Chromosome, as an end-to-end fusion of two pseudoautosomal regions (PAR). Males with this abnormal Y Chromosome (XY) are fully fertile and can be used to transmit this chromosomal aberration. Duplication of the PAR in Y* males permits generation of X and Y reciprocal translocation products during meiosis (see figure 1 in Eicher et.al 1991). Sperm produced by XY* males contain either a normal X Chromosome, the intact, complete Y^, a large marker sex chromosome comprising an X Chromosome and most of the Y (Y^), or a tiny cytogenetic marker sex chromosome (Y^X). Among offspring are the following genotypes and corresponding phenotypes: XY^*, which are fu ..... For more information please see the full phenotype on the strain data sheet
006450	B6EiC3 a/A-Vss/GrsrJ	Cryopreserved - Ready for recovery
	Carriers of the dominant mutation variable spot and size have a white belly spot and an overall smaller body size.
000971	B6EiC3 a/A-Och/J	Cryopreserved - Ready for recovery

000551	B6EiC3 a/A-Tbx15^de-H/J	Cryopreserved - Ready for recovery

000557	B6EiC3-+ a/Lnp^Ul A/J	Cryopreserved - Ready for recovery

000504	B6EiC3Sn a/A-Cacnb4^lh/J	Cryopreserved - Ready for recovery
	Mice homozygous for the lethargic spontaneous mutation (Cacnb4^lh) are first recognizable at 15 days by their lethargic behavior with gait instability and occasional seizures. The seizures resemble human petit mal seizures. No pathological changes were found in the CNS or in skeletal muscles, but peripheral motor nerves show reduced conduction velocity and prolonged distal latency. There is early thymic involution at 3 to 4 weeks in Cacnb4^lh homozygotes, accompanied by decreased lymphocyte count, decreased cell-mediated immunity, and increased levels of serum IgG1. The defects in the immune system tend to disappear by 2 months of age in mice that survive. In addition to neurological and immunological defects, homozygous lethargic mice show pituitary-adrenal hypercorticism. Homozygotes are smaller and weaker than their normal littermates and often die before 2 months old. Survivors of both sexes may breed, but their reproductivity is low.
001811	B6EiC3Sn a/A-Otc^spf-ash/J	Cryopreserved - Ready for recovery

002343	B6EiC3Sn a/A-Otc^spf/J	Cryopreserved - Ready for recovery

002432	B6J x B6.C-H2-K^bm1/ByJ-Cdh23^v-J/J	Cryopreserved - Ready for recovery
	Mice homozygous for the waltzer Jackson spontaneous mutation (Cdh23^v-J) exhibit the circling, head-tossing, deafness, and hyperactivity typical of circling mutants. Homozygous mutant mice are very similar to other waltzer mutants (Cdh23^v and Cdh23^v-2J). Most homozygotes are deaf from birth. Abnormalities of the inner ear include degeneration of the organ of Corti, spiral ganglion, stria vascularis, and saccular macula. Double heterozygotes with shaker-1 (Cdh23^v/+ Myo7a^sh1/+) become deaf by 3 to 6 months of age. Double heterozygotes show degeneration in the organ of Corti, stria vascularis, and spiral ganglion similar to that of Cdh23^v-J homozygotes, but less severe and with much later onset. Viability and breeding ability are somewhat reduced.
012889	B6N;TKDU-Myo5a^d Cacna2d2^du/J	Cryopreserved - Ready for recovery
	Mice homozygous for the ducky spontaneous mutation (Cacna2d2^du) show a waddling or reeling gait and a tendency to fall to one side. Homozygous mutant mice are slightly smaller than normal and may occasionally have seizures. Histologically, homozygotes show severe dysgenesis of hindbrain and spinal cord, myelin deficiency that is more marked the more caudad the CNS region, and demyelination and axonal dystrophy in selective fiber systems including the spinocerebellar and vestibulospinal tracts. There is a deficit of cerebrosides in the hindbrain and spinal cord, but other lipid classes are present in normal amounts relative to the size of the CNS. Viability is somewhat less than normal. Males living to maturity may be fertile, but are poor breeders. Females rarely breed. In mice homozygous for either Cacna2d2^du or Cacna2d2^du-2J, no loss of Purkinje cells or granular cells was seen by immunohistochemistry for calbindin or calretinin r ..... For more information please see the full phenotype on the strain data sheet
001274	BALB/c-Krt71^Ca-9J/J	Cryopreserved - Ready for recovery

005852	BALB/c-Phex^Hyp-Duk/J	Cryopreserved - Ready for recovery
	This mutant offers a model for X-linked dominant hypophosphatemic rickets. The serum phosphorus (2.95 mg/dL) in hemizygous males is lower than that found in hypophosphatemia, hypophosphatemia 2 Jackson, or gyro hemizygous males. The skeletal defects include shortened long bones and craniofacial defects and hemizygous males have cochlear degeneration and a heightened auditory brainstem response threshold, higher than that in other Phex mutants. The heightened ABR threshold is dependent upon a modifier that is absent in BALB/cByJ. Consistent with vestibular dysfunction, approximately half of the hemizygous males and some of the heterozygous females display circling behavior, and in hemizygous males head bobbing or unstable gait have also been noted. Hemizygous males are mildly growth retarded, with a squared and shortened body, and shortened hind limbs and tail. While some heterozygous females display circling and growth retardation, not all do and they are more difficult to d ..... For more information please see the full phenotype on the strain data sheet
001548	BALB/cBy x A/J-Crm^J/J	Cryopreserved - Ready for recovery
	Hemizygotes, and homozygotes have a pale yellow coat color and hemizygotes have a mottled pale yellow and albino white coat.
004317	BALB/cBy-Gulo^sfx/J	Cryopreserved - Ready for recovery
	The sfx phenotype is not apparent until shortly after weaning age. By 26-30 days of age, homozygotes display decreased mobility, diminished weight gain, and more scruffy appearance than their heterozygous or wildtype siblings. Dissection reveals smaller spleen and thymus and increased kidney and brain weights. A reduction in bone mass is accompanied by a paucity of mature osteoblasts on bone surfaces, a subtle reduction of chrondrocytes in epiphyseal-plate columns, growth plate arrest in long bones, and other architectural abnormalities. Bone analysis shows sponteneous fractures both in large bones and smaller ones such as metacarpals. Serum analysis shows a decrease in calcium, inorganic phosphate, alkaline phosphatase, osteocalcin, and insulin-like growth factor 1. These homozygotes also have a reduction in the number of both the red and white blood cells. Homozygotes are fragile and must be handled with great care. (Beamer et al., 2000.)
001755	BALB/cBy-Krt71^Ca-10J/J	Cryopreserved - Ready for recovery

005348	BALB/cByJ Agtpbp1^pcd-3J-Bmp5^cfe-se6J/GrsrJ	Cryopreserved - Ready for recovery
	The ear pinnae of homozygotes are ragged around the edges, yet uniform, and smaller than normal.
003922	BALB/cByJ-Clcn1^adr-mto2J jgl/GrsrJ	Cryopreserved - Ready for recovery
	Mice homozygous for the jagged tail-like (jgl) mutation are easily characterized by their kinked tails that are recognizable by 10 days of age. Full body X-rays revealed exostosis of the vertebrae near the tail tip and in the phalanges of all 4 feet and abnormal vertebral bodies were also reported in two 5 month old homozygotes. Both female and male reproductive organs are smaller than normal with the males showing severe atrophy of the seminiferous tubules and hyperplasia of Leydig cells. Although most homozygotes are not fertile, a few have produced litters. Homozygotes also have atrophic spleens, particularly the white pulp.
006274	BALB/cByJ-Dfb/J	Cryopreserved - Ready for recovery
	Mice heterozygous for the deaf ballerina mutation display circling and head tossing behavior, are deaf, and lack the corpus callosum. Heterozygous females do not breed.
002088	BALB/cByJ-Herc2^J/J	Cryopreserved - Ready for recovery
	Herc2^J, Jackson; spontaneous; recessive: Arose spontaneously on a BALB/cJ background. Homozygous mutants are smaller than littermates and have a subtle tremor that is recognizable by 2.5 to 3 weeks of age. The visible tremor is not progressive with age. Males are functionally sterile and have reduced sperm numbers and sperm abnormalities similar to those seen in mice with the pink-eyed dilution deletion alleles, Herc2^p-bs, Herc2^p-6H, and Herc2^p-25H. In vitro fertilization was not attempted. Females have poor fertility but ovaries are functional when transplanted into histocompatible hosts. Ovaries may exhibit fewer and smaller copora lutea based on limited sample. Herc2^J was allele tested with Herc2^p-6H/Herc2^p-cp and with Herc2^PJ/Herc2^P-bs and found to be allelic with Herc2^p-6H and Herc2^p-bs ..... For more information please see the full phenotype on the strain data sheet
003756	BALB/cByJ-nr/J	Cryopreserved - Ready for recovery
	On the BALB/cByJ background nervous homozygotes have a delayed expression of the mutant phenotype relative to that on the C3HeB/FeJ background (see Stock No. 000229). At 8 to 9 weeks of age homozygotes have a ruffled and disheveled appearance and are slightly smaller than their affected littermates. They are ataxic, having an unsteady gait particularly in the hindquarters, but do not display tremors. They are more active than their littermates. Males and females are affected equally and have a normal lifespan. These mice are good breeders with few non-productive matings. A cross between C3Fe.CGr(Cg)-nr/J homozygotes and BALB/cByJ-nr/J homozygotes produced compound heterozygotes most of which presented with the nervous phenotype by 4 weeks of age, although some had onset delayed as much as to 7 weeks of age (Giggey and Thompson, 2005). There is a 90% loss of Purkinje cells between 23 and 50 days in homozygous mu ..... For more information please see the full phenotype on the strain data sheet
010637	BALB/cByJ-oar/GrsrJ	Cryopreserved - Ready for recovery
	Mice homozygous for the oarleg mutation display improper orientation of one or both hind limbs and when lifted by the tail they point their toes straight outward and hold the hind limbs stiffly in a manner that makes the appendage resemble an oar. An abnormal gait appears by approximately 2 weeks of age. Despite this, no obvious aberrations of the skeleton have been found and these mutants can orient and swim in water.
002026	BALB/cHeA-Foxe3^dyl/J	Cryopreserved - Ready for recovery
	Dysgenetic lens (Foxe3^dyl) was originally characterized as an autosomal recessive mouse mutant but Foxe3 haploinsufficiency can also yield a similar phenotype characterized by defective lens development and cataracts. Homozygotes are viable and fertile. The most prominent abnormality is the irregular shape and reduced size of the lens. The pupil is also smaller and exhibits abnormal reactivity. The major morphological hallmark of homozygous Foxe3^dyl mice is the persistent attachment of the lens to the corneal epithelium. The iris can also be fused with the lens but the retina remains unaffected. The lens contains fewer secondary fibers but when present, these fibers are very disorganized and the tissue contains large vacuoles. The developing lens initially forms properly as the lens placode is induced within the anterior neural ectoderm but around embryonic day 10 the mutant lens vesicle does not completely close and detach from the ..... For more information please see the full phenotype on the strain data sheet
005226	BALB/cJ-Mbp^shi-J/GrsrJ	Cryopreserved - Ready for recovery
	Mice homozygous for the shiverer Jackson mutation can be identified at 12 days of age by a generalized tremor during locomotion and the severity of the phenotype progresses with age and includes a loss of coordination of the hindlimbs. Deficiency of myelin from the central nervous system has been found at 7 weeks of age, the earliest time-point assessed.
007971	BALB/cJ-Ppp1r13l^wa3-J/J	Cryopreserved - Ready for recovery
	Homozygotes have a coat that is sparse but not wavy. They are born with their eyelids open and develop vascular corneas. They also develop early-onset cardiomyopathy, which leads to congestive heart failure. Female homozygotes have not successfully bred and male homozygotes have significantly reduced fertility, producing one or two litters in their lifetime at best.
004546	BALB/cJ-Trf^hpx/JUthHmsJ	Cryopreserved - Ready for recovery
	Mice homozygous for the hpx allele exhibit refractory iron-deficient, hypochromic, microcytic anemia with iron-loading in the liver, pancreas, heart and brain. Homozygotes usually die within 2 weeks after birth with hypochromic anemia and very low serum transferrin. The mutant condition is evident in 13-day embryos, which have severe transferrin deficiency and hepatic iron loading. Heterozygotes have normal blood values but half normal concentrations of transferrin and show minor increases in iron stores. The condition closely resembles human atransferrinemia.
013715	BALB/cJ-psds1l/GrsrJ	Cryopreserved - Ready for recovery
	psds1l homozygotes can be identified when their first coat grows in by the dirty white coat color and sparse hair. Hair is usually absent from around the eyes, which often have a crusty growth around them, and hair loss is commonly found around the cervical area.
006019	BALB/cJ-ssl/GrsrJ	Cryopreserved - Ready for recovery
	Mice homozygous for the small swaying lethal mutation are smaller than control littermates and ataxic such that they lean and fall over on their side. This is evident by 12 to 15 days of age. They do not survive beyond 4 to 5 weeks of age.
004949	BKS(Cg)-Grxcr1^pi-3J/J	Cryopreserved - Ready for recovery
	Mice homozygous for the pirouette 3 Jackson mutation display bi-directional circling and head bobbing and are completely deaf by ABR assessment. Consistent with a vestibular defect, they fail to swim at the surface of water, but instead roll underwater and sink before rescue.
005736	BKS(Cg)-calre/GrsrJ	Cryopreserved - Ready for recovery
	The curly coat of this spontaneous homozygous mutant mouse (BKS.Cg m +/+ Lepr^db /J-calre/J) is recognized at 10-12 days of age when hair is fully covering the body. At 2 weeks of age the coat of homozygous mutants looks very curly, and the mutants also have curly vibrissae. After several weeks, the curly phenotype is reduced; the hair becomes fuzzy in appearance, and the vibrissae straighten out and appear normal. Some mutant mice have no whiskers at wean age. Also, in older homozygous and heterzygous mice more whiskers are lost, and homozygous mutants lose more hair as they age. Homozygous mutant mice live normal life spans and breed normally.
003606	BKS(Cg)-frzl/GrsrJ	Cryopreserved - Ready for recovery
	Frizzy like homozygotes can be identified by their wavy coat texture and curly whiskers at 7 to 9 days of age, when the first coat comes in. While the curly whiskers persist, the curl of the hair is reduced within a few weeks. At 4 weeks of age a deficiency of zigzag hairs and increased bends in the existing zigzag hairs was found.
005898	BKS(Cg)-trls/GrsrJ	Cryopreserved - Ready for recovery
	Homozygotes can usually be identified at 14 days of age by a tremor and smaller than normal body size. Most homozygotes die around 3 weeks of age, although some have lived longer.
004176	BKS.B6-Tub^tub/Jng	Cryopreserved - Ready for recovery
	Mice homozygous for the tubby spontaneous mutation experience maturity-onset obesity. Homozygous mutant mice are recognizable by increased body weight at 3 to 4 months in males and at 4 to 6 months in females. Both sexes are fertile. The increased weight is composed of excess adipose tissue. Blood glucose is normal, but plasma insulin is increased prior to obvious signs of obesity and may rise to 20 times normal by 6 months on the C57BL/6 background. Despite elevated plasma total cholesterol, triglycerides, and high-density lipoprotein cholesterol, homozygous mutant mice do not exhibit atherosclerotic fatty streak blood vessel lesions. Tubby mutant mice also exhibit retinal degeneration, initially believed due to the presence of another mutation which was called rd5, but since demonstrated to be a pleiotropic effect of the Tub^tub mutation (Ohlemiller et al., 1997); the retinal phenotype is moderated by a QTL on Chromosome 11 (Ikeda et al., 2002). ..... For more information please see the full phenotype on the strain data sheet
000700	BKS.Cg-Dock7^m Lepr^db/+ +/J	Cryopreserved - Ready for recovery
	Mice homozygous for the diabetes spontaneous mutation (Lepr^db) become identifiably obese around three to four weeks of age. Elevations of plasma insulin begin at 10 to 14 days and of blood sugar at four to eight weeks. Homozygous mutant mice are polyphagic, polydipsic, and polyuric. The course of the disease is markedly influenced by genetic background. A number of features are observed on the C57BLKS background, including an uncontrolled rise in blood sugar, severe depletion of the insulin-producing beta-cells of the pancreatic islets, and death by 10 months of age. Exogenous insulin fails to control blood glucose levels and gluconeogenic enzyme activity increases. Peripheral neuropathy and myocardial disease are seen in C57BLKS Lepr^db homozygotes. Wound healing is delayed and metabolic efficiency is increased. Although normal in body weight, blood glucose, and plasma insulin, heterozygotes (Lepr^db/+) also have increased metabolic ..... For more information please see the full phenotype on the strain data sheet
002391	BKSChpLt.HRS-Cpe^fat/J	Cryopreserved - Ready for recovery
	Mice homozygous for the fat spontaneous mutation (Cpe^fat) on a C57BLKS/J genetic background (N10) have a diabetes phenotype that is primarily restricted to males and is more severe than what is seen on the original HRS/J or C57BLKS/J (N5) genetic backgrounds. At weaning both males and female homozygous mutant mice were significantly lighter than wildtype or heterozygous littermates. Obesity develops between 6 and 8 weeks of age and mutant mice can be distinguished from wildtype littermates between 8 and 12 weeks of age. By 18 weeks fat mutant mice will reach 45-55 g and may reach 60-70 g by 6 months of age. Thus, the obesity is thus slower to develop than in the obese (Lep^ob) and diabetes (Lepr^db) mutant mice. The excess adiposity is distributed throughout the body's fat stores, in contrast to the largely axial and inguinal fat deposition of the obese and diabetes mutant mice. Hyperinsulinemia is severe by 4 weeks of age and contin ..... For more information please see the full phenotype on the strain data sheet
000250	BNT/LeJ	Cryopreserved - Ready for recovery
	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 phenotype on the strain data sheet
006816	BXA7/Pgn-Slc26a4^pdsm/J	Cryopreserved - Ready for recovery
	Mice homozygous for the pdsm mutation display head bobbing, circling, and occasional head tilt, evident by 3 weeks of age. The inner ear defects include diminished or absent otoconia, hair cells and spiral ganglion cells, malformed tectorial membrane, a reduction in the number of cochlear turns, degeneration of the organ of Corti, and displacement of Reissner's membrane resulting in enlarged scala media. Serum chemistry and histology failed to detect any signs of hypothyroidism.
003613	BXD32/TyJ-Galc^twi-5J/J	Cryopreserved - Ready for recovery
	The twitcher 5 Jackson homozygotes on this BXD32/TyJ background have a much earlier onset than the original twitcher mutation assessed on a mixed B6;CE background. A moderate tremor and smaller body size can be detected by 14 to 16 days of age, most homozygotes die by 21 days of age, and the remainder die by 30 days of age.
011114	C(TSJ)-Rpl38^Ts/GrsrJ	Cryopreserved - Ready for recovery
	Homozygosity for the tail short mutation causes early embryonic lethality. Heterozygotes are smaller than normal and have variably shortened tails with flexures. Skeletal abnormalities are found with varying expressivity including vertebral fusions, bilateral asymmetry of the length of the humerus and tibia, triphalangy of digit 1 of the forefoot, an extra pair of ribs, and craniofacial defects. Embryonic anemia and reduced fertility are also found.
002864	C.Cg-Pstpip2^cmo/J	Cryopreserved - Ready for recovery
	Mice homozygous for the cmo spontaneous mutation are viable and fertile and live a normal life span. Homozygous mutant mice of both sexes exhibit multiple sites of inflammation in the bone. By 6-8 weeks of age kinks or swellings in the tail are evident. Hind and fore paws become swollen and red with severe deformity by three months of age. The phenotype of this mouse resembles human chronic recurrent multiple osteomyelitis.
005494	C3.129S1(B6)-Grm1^rcw/J	Cryopreserved - Ready for recovery
	Visibly, Grm1^rcw/Grm1^rcw mice are identifiable by 2.5 - 3 weeks of age. Their constant wobbly gait frequently throws them off balance, but only briefly, as they show immediate and normal righting response. When walking, they often brace for balance with their fore- and hindfeet extended forward or sideways. Their heads lurch mildly and the mutants often sit on their haunches when motion falters. Their forefeet show normal grip strength when the mutant mice are pulled gently backwards over a cage cover. When picked up by the tail, they may clasp their hindfeet. However, they show sufficient hindlimb strength to prevent their falling when placed on an edge. Mutants live through adulthood, and mice of both sexes breed. Grm1^rcw has been mapped between the flanking markers D10Mit49, at map position 6.3 Mb and D10Mit80, at map position 11.4 Mb.
002000	C3.Cg-Cryge^Elo/J	Cryopreserved - Ready for recovery
	Heterozygotes and homozygotes have microphthalmia with normal ocular structures except for the lens. Homozygotes are viable and fertile. At embryonic day 12 there is poor elongation of the basal cytoplasm of the central lens fibers and the lens cavity remains open. At embryonic day 13 the elongation of the lens fiber and the convex nuclear arrangement shows poor progression, the central lens fibers are deranged, and the lens fibers are detached from the capsule at the basal surface. At birth the lens is approximately half the normal size and is deformed, with the lens cavity remaining open. In heterozygotes and homozygotes the lens degenerates by 30 days of age.
000509	C3.Cg-Lyst^bg-2J/J	Cryopreserved - Ready for recovery
	Mice homozygous for the beige 2J spontaneous mutation (Lyst^bg-2J) display characteristics very similar to the original beige mutation (Lyst^bg). The mouse phenotype closely resembles Chediak-Higashi syndrome in man and similar conditions in mink and cattle. Abnormal giant lysosomal granules occur in all tissues with granule-containing cells, including granulocytes, lymphocytes, cells of the liver, kidney, central nervous system, pancreas, and thyroid, and the ducts of most glands; in type II pneumocytes; in mast cells; and in retinal pigment epithelium. Granulocytes from beige homozygous mutant mice show defective chemotaxis and reduced bactericidal activity. Beige mice are more susceptible than controls to pneumonitis and to various viral, bacterial, and parasitic infections. Natural killer (NK) cells from beige mice exhibit decreased endogenous cytotoxic activity. Beige mice also have a defective cytotoxic T-cell and cytotoxic antibody response to a ..... For more information please see the full phenotype on the strain data sheet
005327	C3.Cg-a Zfp191^hmcns/GrsrJ	Cryopreserved - Ready for recovery
	Mice homozygous for the hmcns mutation have diminished myelin in the central nervous system, although peripheral axons appear normally myelinated. There are abundant late-stage process-extending oligodendrocytes, but these fail to myelinate the central nervous system and have diminished expression of an array of myelin-related genes. Homozygotes can be identified by approximately 14 days of age by a tremor and tonic seizures. At 14 days of age the brain and spinal cord appear smaller than normal and lack white matter. Most homozygotes die by 25 days of age.
000244	C3Fe(B6)-Fbn2^fp/J	Cryopreserved - Ready for recovery
	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).
000229	C3Fe.CGr(Cg)-nr/J	Cryopreserved - Ready for recovery
	Nervous homozygotes on this C3HeB/FeJ congenic background display a mutant phenotype by 3 to 4 weeks of age, much earlier than on the BALB/cByJ background (see Stock No. 003756). Because this earlier onset occurs at wean age, the affected pups may have to stay with the mother an extra week or two. Homozygotes are somewhat smaller than their littermates and are ataxic with a slight head bobbing motion but do not display tremors. They often fall over on their side and have a sort of backwards lurching movement. They have a tendency to look up and are hyperactive compared to their littermates. Males and females are equally affected and have a normal lifespan. They are poor breeders with a higher than normal incidence of non-productive matings. A cross between C3Fe.CGr(Cg)-nr/J homozygotes and BALB/cByJ-nr/J homozygotes produced compound heterozygotes most of which presented with the nervous phenotype by 4 weeks of age, ..... For more information please see the full phenotype on the strain data sheet
003798	C3Fe.Cg-Scn8a^med/J	Cryopreserved - Ready for recovery

002758	C3Fe.Cg-scb/J	Cryopreserved - Ready for recovery
	Scabby is a recessive mutation that maps to chromosome 8. Homozygotes display scar tissue on the skin and tail shortly after birth with defects in hair growth in these areas. Transverse stripes particularly over the rump may be seen in the juvenile coat, but are generally absent in the adult. Webbed feet and a short and kinky or constricted tail may also be seen. Homozygotes are viable and fertile although males breed better than females. (Searle and Beechey, 1977.)
000200	C3FeB6 A/A^w-J-Ank^ank/J	Cryopreserved - Ready for recovery
	The progressive ankylosis allele (ank) is a spontaneous recessive mutation that causes a severe phenotype of joint calcification and degeneration. Few homozygotes survive beyond 5 months of age, although the adults can breed. Generally no more than 2 litters are produced by homozygotes of either sex. At 4 or 5 weeks of age, homozygotes can be identified by their inability to grasp a wire cage lid with their front paws when suspended above it. The joints swell with a milky fluid, and undergo a process proceeding through mononuclear inflammatory infiltration, hydroxyapatite deposition and increased calcification, hyperplasia, and fibrous and bony ankylosis. (for details see Mahowald et al., 1989; Hakim et al., 1984; Sweet and Green, 1981.) The front feet are affected before the hind feet and the phenotype is more severe in the most distal joints of the limbs. Hyperplasia and degeneration of the joint tissues, and ankylosis occur progressively, decreasing mobility and resulting i ..... For more information please see the full phenotype on the strain data sheet
000638	C3FeB6 A/A^w-J-Spnb4^qv-J/J	Cryopreserved - Ready for recovery
	Mice homozygous for the quivering-Jackson spontaneous mutation (Spnb4^qv-J) are characterized by locomotor instability, pronounced quivering, deafness, varying degrees of paralysis of the hindlegs, clasping of the hindlegs when held up by the tail, and priapism in most males. Serial sections of the brain, cord, and nerve roots reveal no abnormalities, and urinary amino acids are normal. The inner ear is histologically normal and has normal thresholds for compound action potentials at the round window. However, the thresholds for potentials in the inferior colliculus are twice as high as normal, showing that the deafness, unlike that of any other deaf mutants in the mouse, is of central origin. Viability of homozygous mutant mice at weaning is normal, but the life span is short, the majority dying before 5 months of age. Males are sterile, but females may be fertile and nurse their young.
001904	C3H-Atcay^ji-hes/J	Cryopreserved - Ready for recovery
	Mice homozygous for the hesitant spontaneous mutation (Atcay^ji-hes) can be recognized at 14 days of age by their slightly smaller size and hesitant walking motion. From 3 weeks of age on, the hindlimbs of homozygous mutant mice hesitate after lifting and then are placed flat on the surface and stiffly extended causing the posterior to rise. No body tremors, spasticity, or muscle degeneration is observed. Homozygotes of both sexes are fertile, although fertility in males may be reduced.
000511	C3H/HeJ-Ap3d1^mh-2J/J	Cryopreserved - Ready for recovery
	The mh-2J allele of Ap3d causes a similar yet less severe pigment dilution than that caused by the mh allele, but each causes a different neurological phenotype. These homozygotes are recognizable by a lighter coat color and decreased pigmentation in the eyes. For the Ap3d^mh allele, this coat color dilution has been shown to result from smaller and fewer melanin granules in the hairs. While both alleles cause similar degrees of hyperactivity, the cochlear degeneration and accompanying head tilt is observed less frequently in the Ap3d^mh-2J homozygotes and the auditory evoked brain responses in these mice are similar to wildtype. At three months of age, mice homozygous for the Ap3d^mh allele have significantly increased auditory evoked potentials after the first of two paired tones. Ap3d^mh-2J homozygotes also show an increased response to the first tone, but this has not been proven with stat ..... For more information please see the full phenotype on the strain data sheet
001276	C3H/HeJ-Atp2b2^dfw/J	Cryopreserved - Ready for recovery
	Mice homozygous for the deaf waddler spontaneous mutation (Atp2b2^dfw) are deaf, walk with a hesitant, wobbly gait, and bob their heads. Both sexes are fertile.
004965	C3H/HeJ-Clic5^jbg/J	Cryopreserved - Ready for recovery

001232	C3H/HeJ-Eda^Ta-5J/J	Cryopreserved - Ready for recovery

000784	C3H/HeJ-Fasl^gld/J	Cryopreserved - Ready for recovery
	Mice homozygous for the Fasl^gld mutation display lymphadenopathy and systemic autoimmunity similar to that in Fasl^lpr homozygous mice. There is significant enlargement of all lymph nodes to 50 times the control weight by 20 weeks of age. Homozygotes also have an enlarged spleen, greatly increased numbers of T, B, and null lymphocytes and develop immune complex glomerulonephrosis. Onset of symptoms is dependent on genetic background with the C3H/HeJ strain having the earliest onset exhibiting glomerulonephritis by 22 weeks.
008676	C3H/HeJ-Hmx1^mpe/J	Cryopreserved - Ready for recovery
	Mice homozygous for the misplaced ears mutation have low set, laterally protruding ears. Fewer homozygotes than standard Mendelian genetics predicts are produced from heterozygous intercrosses. This strain is a model for oculo-auricular syndrome.
003161	C3H/HeJ-Hps3^coa-6J/J	Cryopreserved - Ready for recovery

000627	C3H/HeJ-Kit^W-x/J	Cryopreserved - Ready for recovery

003401	C3H/HeJ-Lpin1^fld-2J/J	Cryopreserved - Ready for recovery
	Homozygous fatty liver dystrophy (fld) mice have an enlarged, fatty liver and hypertriglyceridemia which resolve to normal during the weaning transition. However, decreased overall size, decreased lipid in the fat pads, and a peripheral neuropathy persist throughout the lifespan. This peripheral neuropathy manifests as a tremor and an unsteady gait shortly after 10 days of age and worsens with age. The fld neuropathy is specific to the peripheral nervous system. Electron microscopy of sciatic nerves revealed thin, poorly compacted myelin sheaths, hypertrophic Schwann cells, myelin debris, degenerating axons, bands of Bugner, and regenerative clusters, but no evidence of inflammation (Langner et al, 1991). Western blot analysis of sciatic nerve from two-to-three month old fld/fld mice showed a 7-13-fold reduction in myelin P₀, a vast increase in apoE, an increase in GAP-43, and no detectable myelin P₂. It was also noted that a ..... For more information please see the full phenotype on the strain data sheet
004806	C3H/HeJ-Mfs/J	Cryopreserved - Ready for recovery
	Both male and female mice homozygous or heterozygous for the Mfs mutation have a striped pattern in their coats that is visible by 3 weeks of age.
000809	C3H/HeJ-Mgrn1^md-2J/J	Cryopreserved - Ready for recovery

000223	C3H/HeJ-Mgrn1^md/J	Cryopreserved - Ready for recovery

002460	C3H/HeJ-Oca2^p-J Is(7;1)40H/J	Cryopreserved - Ready for recovery

000513	C3H/HeJ-Oca2^p-J/J	Cryopreserved - Ready for recovery
	Oca2^p-J/Oca2^p-J mice exhibit significant dilution of coat color with pink eyes, a phenotype similar to that produced by Oca2^p/Oca2^p. The Oca2^p-J mutation is a partial deletion of the gene that completely ablates Oca2^p function (Oakey et al. 1996).
007782	C3H/HeJ-Pofut1^cax/J	Cryopreserved - Ready for recovery

000510	C3H/HeJ-Pou1f1^dw-J/J	Cryopreserved - Ready for recovery
	Mice homozygous mice for the dwarf Jackson spontaneous mutation (Pou1f1^dw-J) have a phenotype very similar to mice homozygous for the original dwarf mutation (Pou1f1^dw). Homozygous mutant mice are characterized by severe proportional dwarfing, sterility, and hypothyroidism. Adult dwarf mice are about one-fourth to one-third the size of wildtype mice. There is a lack of growth hormone, prolactin and thyroid stimulating hormone producing cells in the anterior pituitary leading to severe endocrine deficiency of these hormones. Homozygous mutant mice show a transient loss in cortical thymocytes associated with the primary defect in anterior pituitary.
003128	C3H/HeJ-Slc4a1^wan/J	Cryopreserved - Ready for recovery
	Mice homozygous for the wan mutation are extremely pale at birth with very reduced red blood cell, hematocrit, and hemoglobin counts, and die by 72 hours after birth. At embryonic day 15 fetal red blood cell counts are decreased, there are fewer than normal reticulocytes and a considerable number of spherocytes. Newborns have spherocytic red blood cells but no reticulocytes in peripheral blood.
002433	C3H/HeJ-Spnb4^qv-lnd2J/J	Cryopreserved - Ready for recovery
	Mice homozygous for the recessive Spnb4^qv-lnd2J mutation are identifiable by two weeks of age by their small size relative to their littermates. Their bodies quiver, and their movements are less coordinated than those of littermates. Mutants become progressively wasted and die by four weeks of age. (Cook 1995; Samples 2003) Their phenotype is more severe than that of mice homozygous for the original Spnb4^qv-lnd allele, which survive at least 10 months. Spnb4^qv-lnd/Spnb4^qv-lnd mice were found to have dystrophic axons in the lower lumbar and sacral spinal cord. The dystrophic axons were observed in both white and gray matter, but particularly in dorsolateral white matter (Bronson et al. 1992). The acoustic brainstem response ABR) pattern of Spnb4^qv-lnd2J homozygous mice exposed to click stimuli of 80, 70, 60 and 50 decibels exhibited only the first expected peak, indicating the mice have norm ..... For more information please see the full phenotype on the strain data sheet
001294	C3H/HeJ-Tyr^c-a/J	Cryopreserved - Ready for recovery

001588	C3H/HeJ-jd/J	Cryopreserved - Ready for recovery

001544	C3H/HeJ-ruf/J	Cryopreserved - Ready for recovery

005972	C3H/HeJBirLtJ	Cryopreserved - Ready for recovery
	Under conventional housing conditions, C3H/HeJBirLtJ mice develop spontaneous colitis. It should be noted that the phenotype of cecocolitis in this strain requires an interaction with an as yet undefined component of the enteric flora. Inflammation is present mainly in the cecum and right colon. Colitis develops early in life and resolves by three months of age. The colitis is characterized by acute and chronic inflammation, ulcerations, crypt abscesses, regenerative hyperplasia and submucosal scarring. A mild recurrence of the disease can occur after one year. Small lesions at the anorectal junction are common throughout life.
004407	C3H/HeJCrl-Kcnq1^vtg-2J/J	Cryopreserved - Ready for recovery
	Kcnq1^vtg-2J homozygotes exhibit circling and head-tossing behavior. Both clickbox and acoustic brainstem response (ABR) testing revealed that they are deaf by 8 weeks of age, while age matched heterozygotes have good hearing. This mutation was shown to be an allele of Kcnq1 by complementation testing with the original vertigo mutation, Kcnq1^vtg.
003525	C3H/HeOuJ-Gusb^mps-2J/BrkJ	Cryopreserved - Ready for recovery
	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 ..... For more information please see the full phenotype on the strain data sheet
000316	C3H/HeSn-Gpr161^vl/J	Cryopreserved - Ready for recovery

001529	C3H/HeSn-Paf/J	Cryopreserved - Ready for recovery
	X^Paf/X females have patchy or striped coats; X^Paf/Y males have a dark, shiny coat until hair loss begins between 12 and 30 days of age when the underfur is lost and the coat becomes sparse and bristly. X^Paf/X^Paf females initially have a dark shiny coat which looks like that of X^Paf/Y males although less bristly and sparse and appears more striped or patched than heterozygous females. Due to X-Y nondisjunction, approximately 1% of offspring from Paf/Y males are XXY phenotypic males and 19% are XO phenotypic females.
000120	C3H/HeSn-Rab27a^ash/J	Cryopreserved - Ready for recovery
	Ashen mice have a lightened coat color that is gray on a non-agouti background similar to that of dilute (Myo5a^d) or leaden (ln) mutants. Lane and Womack reported that on an agouti background the yellow pigment is more dilute in ashen mice resulting in a grayer agouti than that found in dilute or leaden mice, but Wu et al. subsequently reported that dilute and ashen mice have identical degrees of coat color dilution. This pigment dilution results from defective trafficking of melanosomes that are normally found throughout the dendrites of melanocytes. Similar to that seen in leaden mutants, ashen melanosomes are clumped around the nucleus and sparse in the dendrites where normally they are released. Melanosome trafficking from the melanocyte cell body to the ends of the dendrites results from a microtubule-based bidirectional transport. MYO5A is essential for retaining the melanosomes in the ends of the dendrites and preventing their retrograde transport back t ..... For more information please see the full phenotype on the strain data sheet
000775	C3H/HeSn-bc^3J/J	Cryopreserved - Ready for recovery

001431	C3H/HeSn-ocd/J	Cryopreserved - Ready for recovery

001551	C3H/HeSnJ x STOCK dds/J	Cryopreserved - Ready for recovery

001272	C3H/HeSnJ-A^hvy/J	Cryopreserved - Ready for recovery
	The dominant A^hvy allele has the broadest array of expressivity of any of the agouti alleles. Carriers' coat colors range from mostly yellow to almost completely black and the color is usually patchy or striped. Mice with coats on the yellow end of the spectrum tend to develop obesity while those with more black coats do not. Homozygotes are viable and fertile, and are more likely to have yellow or mostly yellow coats than are heterozygotes. A^hvy is recessive to A^y, dominant to a and a^e, and results in an increase in the yellow pigment in the belly coat of A^hvy/a^t and A^hvy/A^w mice.
002235	C3H/HeSnJ-Ctnna2^cdf/J	Cryopreserved - Ready for recovery
	Cerebellar deficient folia (cdf) is a recessive mutation which maps to chromosome 6. Homozygotes display a constant side-to-side wobble in their gait that is apparent as early as 2 weeks of age. Additionally, they often hold their tails off the surface or arch them over their heads while moving. Smaller size is detectable in homozygotes by two weeks of age, at weaning they weigh approximately 25% less than littermate controls, and as adults they weigh, on average, 50% less. These mutants live a normal life span (one-and-a-half to two years on the C3H/HeJ background), but homozygous males rarely breed and homozygous females are poor mothers requiring transfer of litters to foster mothers. The cdf mutation causes a hypoplastic and dysmorphic cerebellum. On the C3H/HeJ background, homozygotes have only 7 cerebellar folia rather than the 10 present in wildtype, and the folia pattern is abnormal. Their vermis is one-third smaller than wildtype in rostro-caudal length ..... For more information please see the full phenotype on the strain data sheet
004683	C3H/HeSnJ-Slc12a6^gaxp/GrsrJ	Cryopreserved - Ready for recovery
	Giant axonopathy (gaxp) is an autosomal recessive mutation that arose spontaneously in the Mouse Mutant Resource colony at The Jackson Laboratory. It occurred in a strain bearing another mutation on the C3H/HeDiSnJ background. Homozygous mutants exhibit ataxia of the hind legs with a slight side - to - side wobble. Histopathologic studies showed pale staining, vacuolated structures measuring between 20 and 150 micra in deep cerebellar nuclei, pons, lateral vestibular nuclei and dorsal root and trigeminal ganglia. Ultrastructurally these structures were often bounded by a few layers of myelin, suggesting that they are swollen axons. gaxp has been mapped to Chromosome 2. The most likely gene order places the mutation between D2Mit128 and D2Mit102 in 174 meioses tested.
001310	C3H/HeSnJ-Slc7a11^sut/J	Cryopreserved - Ready for recovery

002261	C3H/HeSnJ-Sox18^Ra-J/J	Cryopreserved - Ready for recovery
	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 l ..... For more information please see the full phenotype on the strain data sheet
002333	C3H/HeSnJ-gri/J	Cryopreserved - Ready for recovery
	On an agouti background gri homozygotes resemble Tyr^c-ch homozygotes. There is a graying of the coat due to a lighter than normal phaeomelanin band. There is no change in eye color. gri homozygotes are slightly smaller than their unaffected littermates. Homozygous females breed well, but homozygous males often do not breed. Testis biopsies failed to identify any sperm abnormalities. The gri mutation does not cause a clotting disorder. (Davisson et al., 2000.)
001767	C3H/HeSnJ-wl^vmd/J	Cryopreserved - Ready for recovery
	Mice homozygous for the vestibulomotor degeneration spontaneous mutation (wl^vmd) can be identified at 20 days of age by their small size, shaky behavior, ungroomed coat, and emaciation. Homozygous mutant mice tend to sit hunched with rear feet and limbs tucked in towards the body and exhibit a generalized tremor. When startled, they jump sideways. They clasp their hind feet when picked up by the tail. Most mutants die by 30 days of age, probably from inability to feed and starvation. There is no apparent difference between the wabbler lethal (wl) and vestibulomotor degeneration mutant phenotypes.
001434	C3HeB/FeJ x STX/Le-Mc1r^E-so Gli3^Xt-J Zeb1^Tw/J	Cryopreserved - Ready for recovery
	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 phenotype on the strain data sheet
000099	C3HeB/FeJ-A^vy/J	Cryopreserved - Ready for recovery
	Homozygotes (A^vy/A^vy) and heterozygotes (A^vy/A and A^vy/a) show considerable variation in appearance, ranging from clear yellow, to mottling with dark patches, to a completely agouti-like coat. The variation is strongly influenced by the agouti-locus genotype and strain genome of the dam. Homozygotes and heterozygotes tend to become obese, and the degree of obesity is correlated with the amount of yellow in the coat. A^vy resembles AP^y in causing greater tumor susceptibility and lower graft vs. host reactivity and higher hepatic malic enzyme activity. Homozygotes have a reduced humoral response to tetanus toxoid and decreased rates of carbon clearance as well as impaired mononuclear phagocyte function. The greater tumor susceptibility as well as several altered immune responses occur in A^vy/a mice of mottled phenotype but not in those of agout ..... For more information please see the full phenotype on the strain data sheet
001576	C3HeB/FeJ-Atp7b^tx-J/J	Cryopreserved - Ready for recovery

000069	C3HeB/FeJ-Atrn^mg-3J/J	Cryopreserved - Ready for recovery
	Attractin (ATRN) deficiencies cause darkened pigmentation, increased locomotor activity, decreased body weight, and vacuolization and myelination defects in the central nervous system. Agouti protein competes with alpha-melanocyte stimulating hormone (a-MSH) for binding of melanocortin 1 receptor (MC1R), and this in turn signals pigment type switching from eumelanin production to pheomelanin production. ATRN interacts with agouti possibly to facilitate the interaction with MC1R. In mice, ATRN deficiencies result in decreased pheomelanin production causing darkened ears, tail, feet, and coat color which becomes dark reddish brown as these mice age. Thus, the initial Atrn mutation reported by Lane and Green was called mahogany (mg). ATRN deficiencies darken the coloring caused by nonagouti such that these mice are coal black with no white hairs behind the ears or around the perineum and have blacker ears, tail, and feet. ATRN deficiency can suppress the impact on coat co ..... For more information please see the full phenotype on the strain data sheet
004951	C3HeB/FeJ-Cacnb4^lh-3J/GrsrJ	Cryopreserved - Ready for recovery
	Mice homozygous for lethargic 3 Jackson are recognizable at 14 days of age. They exhibit a behavior characteristic of lethargic with a wobbly gait resembling an unsteady wide legged shuffle. Some Cacnb4^lh-3J homozygotes also have a stargazing phenotype, but seizures have not been reported. The homozygotes are smaller than their wildtype littermates but live a normal lifespan. Both sexes may breed but they produce smaller litters or stop breeding earlier than heterozygous sibs.
006045	C3HeB/FeJ-Eif3c^Xsl/GrsrJ	Cryopreserved - Ready for recovery
	Xsl heterozygotes are smaller than normal at 3 weeks of age but catch up to normal size by 6 weeks of age. They have a belly spot and extra digits at the thumb position on one or both front paws.
002588	C3HeB/FeJ-Eya1^bor/J	Cryopreserved - Ready for recovery
	The human Branchio-Oto-Renal Syndrome is generally a dominant disorder with incomplete penetrance and variable expressivity resulting from null mutations in the EYA1 gene. The mouse Eya1^bor allele is primarily a recessive hypomorphic mutation. Nevertheless, homozygous mice with this hypomorphic allele offer a good model for Branchio-Oto-Renal Syndrome. The phenotype of Eya1^bor/Eya1^bor mice parallels that of the human Branchio-Oto-Renal Syndrome and both are thought to result from reduced gene dosage. During mapping crosses using CAST/Ei and C3H/HeJ, it was found that genetic background impacts both the kidney and inner ear phenotypes, and modifier genes in humans also may impact the severity of Branchio-Oto-Renal-Syndrome.
004406	C3HeB/FeJ-Pou3f4^del-J/J	Cryopreserved - Ready for recovery
	Mice homozygous for the Pou3f4^del-J display head shaking and circling behavior by three weeks of age. Homozygous females and males hemizygous for this X-linked mutation have profound deafness, although heterozygous females do not. They have cochlear hypoplasia, a reduced number of cochlear turns, failure to fully form the bony structure of the modiolus, and detachment of the stria vascularis.
001292	C3HeB/FeJ-vs/J	Cryopreserved - Ready for recovery

001886	C3HeB/FeJLe a/a-gnd/J	Cryopreserved - Ready for recovery
	Mice homozygous for the generalized neuroaxonal dystrophy spontanteous mutation (gnd) have large numbers of dystrophic axons in all white matter funiculi and in central grey matter at all levels of the spinal cord. Dystrophic axons also common throughout the brain stem. In the forebrain, some can be seen in the optic nerves and tracts, corpus callosum, rostral commissure, and fornix. Mutant mice are identifiable between 2 and 3 weeks of age by their small size, dull fur, and nervous behavior. Adults are smaller than littermates and have a humped back and slender torso. They walk with a shaky gait and restricted hip movement. Hindlimbs paralyzed by 8 months of age. They rarely breed.
001053	C3Sn.AK-T^hp/EiJ	Cryopreserved - Ready for recovery

001502	C3Sn.B6-Epha4^rb/EiGrsrJ	Cryopreserved - Ready for recovery
	Mice homozygous for the rb allele of Epha4 can be visibly identified by 2.5 - 3 weeks of age by a constant hopping gait of the hind limbs; the forelimbs may show a hopping gait or move normally. When picked up by the tail homozygotes clasp their hindlimbs and show reduced ability to hold on to an edge; forelimbs show normal strength.
001547	C3Sn.Cg-Cm/J	Cryopreserved - Ready for recovery
	Mice heterozygous for the coloboma spontaneous mutation (Cm) show abnormal posture, head shaking or bobbing, and circling. Heterozygous mutant mice are extremely hyperactive, locomotor activity being three times that of normal mice.
001517	C3Sn.Peru-rs^grc/J	Cryopreserved - Ready for recovery

003100	C3Sn;129-Del(10AI646023-Ggt5)1Bayer/J	Cryopreserved - Ready for recovery
	The dwarf-Bayer mutation (dwg^Bayer) occurred spontaneously in an embryonic stem cell line during genetic targeting of the insulin receptor gene. The phenotype of the mice resemble drawf grey (dwg, Stock No. 001743) and subsequent characterization determined that the two mutations are allelic. Homozygous mutant mice are grey and smaller in size than wildtype littermates.
001942	C57BL-Bloc1s3^rp/J	Cryopreserved - Ready for recovery
	The reduced pigmentation (rp) mutation causes defects in organelle biogenesis. On a non-agouti background, mice homozygous for the recessive rp mutation have lighter coat color, pale ears and tail, and the eyes are dark. This coat color is similar in intensity to that caused by the cocoa or ruby eye-2 mutations, and there is no change in coloration with age. Homozygotes are viable and fertile, but have an increased bleed time, decreased splenic NK cell activity, and the melanosomes fail to properly mature (Gibb et al., 1981; Ahmed et al., 1989). There are fewer ellipsoidal type IV melanosomes, and the striated melanosomes are elongated but irregularly shaped indicating that rp disrupts the melanosomal maturation step II (Nguyen et al., 2002). These pigment granules are smaller than normal, but they are not found clumped together. Increased beta-galactosidase, beta-glucuronidase, and N-acetyl-beta-hexosaminidase activities are found in kidney homogenates of > ..... For more information please see the full phenotype on the strain data sheet
001002	C57BL/10SnJ-Tyr^c-11J/J	Cryopreserved - Ready for recovery

002566	C57BL/6-Atp7a^Mo-br/J	Cryopreserved - Ready for recovery
	Heterozygous females carrying the brindled allele (Atp7a^Mo-br) are very similar to mottled heterozygous females (Atp7a^Mo/+) in appearance but have normal viability. They have curly vibrissae, but the coat is not noticeably waved. Hemizygous males are almost devoid of pigment except in the eyes and ears. The vibrissae are strongly curled, and the coat is wavy. Males usually die by two weeks of age, but a few have lived and been fertile. They have a behavioral abnormality consisting of a slight tremor, uncoordinated gait, and clasping of the hindfeet when held up by the tail. Histological examination of the brain of brindled males shows widespread neuronal degeneration in the cerebral cortex and thalamic nuclei and scattered degeneration in the cerebellum. Heterozygous females have been shown to have neurochemical abnormalities as well. In contrast to mice bearing other Atp7a alleles, brindled mice have no aortic lesions and no defect in crossli ..... For more information please see the full phenotype on the strain data sheet
004507	C57BL/6-stn/J	Cryopreserved - Ready for recovery
	Stunted homozygotes have a broad nasal bridge and short snout giving them a shortened face. 95% have a white belly spot and a high incidence of hydrocephalus has been found in this strain. Homozygotes are viable and fertile and can be maintained by homozygous intercross.
002091	C57BL/6Boy-Fv1ⁿ/J	Cryopreserved - Ready for recovery

000338	C57BL/6J A^w-J-Eda^Ta-6J/J	Cryopreserved - Ready for recovery

000258	C57BL/6J-Aⁱ/a/J	Cryopreserved - Ready for recovery

000774	C57BL/6J-A^sy/a/J	Cryopreserved - Ready for recovery

000530	C57BL/6J-Aqp2^cph/J	Cryopreserved - Ready for recovery

000519	C57BL/6J-Dsg3^bal/J	Cryopreserved - Ready for recovery

003129	C57BL/6J-Epha4^rb-2J/GrsrJ	Cryopreserved - Ready for recovery
	Mice homozygous for the Epha4^rb-2J allele can be visibly identified by 2.5 - 3 weeks of age by a constant hopping gait of the hind limbs; the forelimbs may show a hopping gait or move normally. When picked up by the tail mutants clasp their hindlimbs and show reduced ability to hold on to an edge; forelimbs show normal strength. More severely affected homozygous mutant mice also lean frequently to either side, a phenotype not reported in mice homozygous for the rb allele of Epha4. Homozygous females may deliver 2-3 pups per litter but often exhibit poor nurturing.
000536	C57BL/6J-Glra1^spd-ot/J	Cryopreserved - Ready for recovery

005718	C57BL/6J-Grid2^ho-17J/J	Cryopreserved - Ready for recovery
	View strain phenotype and additional information on the Neuroscience Mutagenesis Facility web page for nmf408 entry.
000527	C57BL/6J-Grid2^ho-5J/J	Cryopreserved - Ready for recovery

005521	C57BL/6J-Grm1^rcw-3J/GrsrJ	Cryopreserved - Ready for recovery
	Mice homozygous for the recoil wobbler 3 Jackson mutation have a slightly smaller body size and a wobbly gait, causing loss of balance when walking, usually visible by 2 weeks of age.
000758	C57BL/6J-Hbb^p Hr^rh-7J/J	Cryopreserved - Ready for recovery
	Rhino mice have spleen cells with a defective response to T-dependent antigens and they develop an autoimmune disease characterized by hypergammaglobulinemia, immunoglobulin deposits in basement membrane of skin, spleen, liver, and kidney, and presence of antinuclear antibodies which occur in young mice and increase with age. These mice have increased numbers of Thy1 positive epidermal dendritic cells. Like homozygous hairless mice, rhino mice are hairless by 5 weeks and their skin becomes wrinkled and thickened.
002009	C57BL/6J-Hook1^azh/J	Cryopreserved - Ready for recovery
	The sperm of mice homozygous for the abnormal spermatozoon head shape mutation (azh) have a characteristic ladle shape and up to 40% lack a flagella. However, most male mice do breed and litter sizes are more than half as large as those of unaffected litter mates. There are defects in sperm-head packaging of the chromatin as well as acrosomal and flagellar development. Slight but significant reductions in measurements of sperm motility occur. In vitro, sperm from homozygous mutant mice fail to fertilize ova with intact zonae pellucidae, but are successful in fertilizing zona-free ova. Further analysis of these mice reveal defects in the microtubular manchette which surrounds the nucleus.
007711	C57BL/6J-Hps3^coa-8J/GrsrJ	Cryopreserved - Ready for recovery
	Mice homozygous for the cocoa 8 Jackson mutation have hypopigmentation resulting in a diluted coat color and pale ears, feet and tail.
000542	C57BL/6J-Hps5^ru2-J/J	Cryopreserved - Ready for recovery

000166	C57BL/6J-Kit^W-17J/J	Cryopreserved - Ready for recovery

000167	C57BL/6J-Kit^W-18J/J	Cryopreserved - Ready for recovery

000169	C57BL/6J-Kit^W-20J/J	Cryopreserved - Ready for recovery

000134	C57BL/6J-Kit^W-37J/J	Cryopreserved - Ready for recovery

000062	C57BL/6J-Kit^W-39J/J	Cryopreserved - Ready for recovery

000127	C57BL/6J-Kit^W-42J/J	Cryopreserved - Ready for recovery

003252	C57BL/6J-Kitl^Sl-20J/J	Cryopreserved - Ready for recovery
	Kitl^Sl-20J is a dominant allele. On the C57BL/6J background heterozygotes have a light black coat color with lighter tail and feet and a steel colored belly with a belly spot. Heterozygotes of both sexes are viable and fertile.
000529	C57BL/6J-Lbr^ic-J/J	Cryopreserved - Ready for recovery
	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 cerebellar granule cells. Electron microscopy reveals clumps of heterochromatin at the periphery of the nucleus within splenic lymphocytes. These mice are a model for Pelger-Huet anomaly, which is associated with mutations in LBR, although the skin pathology is specific to the mouse mutation. (Eicher, 1976; Hoffmann et al., 2002; Shultz et al., 2003.)
000974	C57BL/6J-Lgi4^clp/J	Cryopreserved - Ready for recovery

000060	C57BL/6J-Mc1r^e/J	Cryopreserved - Ready for recovery

002611	C57BL/6J-Mitf^mi-bws/J	Cryopreserved - Ready for recovery
	Mutations at the Mitf locus affect eye size, pigmentation, and the capacity for secondary bone resorption.
000540	C57BL/6J-Mpzl3^rc/J	Cryopreserved - Ready for recovery
	The rough coat (Mpzl3^rc) mutation is recessive and fully penetrant. Homozygotes have an unkempt coat appearance and gradual hair loss that becomes extensive. As early as two weeks of age, thinning fur can be seen, and the hair becomes brittle, clumpy and oily in appearance. Homozygotes are fertile. (Lane 1966; Ruvinsky et al., 2002.)
002854	C57BL/6J-Nek1^kat-2J/J	Cryopreserved - Ready for recovery
	The phenotype associated with the Nek1^kat-2J allele is more severe than that of the Nek1^kat allele. Mice homozygous for Nek1^kat-2J all die before one year of age, a third of those that survive weaning die suddenly before 100 days of age, and the reported median survival age is 211 days. Mice homozygous for Nek1^kat also have a shortened life expectancy with high pre-weaning mortality and a reported median survival of 286 days, but 22% were found to survive beyond 1 year. Both mutants are runted and have blunted noses with olfactory bulbs that are approximately half the normal size and lack most of the glomerular and external granular layers. In the brain there is dilation of the lateral and third ventricles, cerebral aqueduct and fourth ventricle along with large, fluid-filled cysts in the choroid plexus. Hydrocephalus occurs. Normochromic normocytic anemia is found and is more pronounced in Nek1^Kat-2J ..... For more information please see the full phenotype on the strain data sheet
002561	C57BL/6J-Nek8^jck/J	Cryopreserved - Ready for recovery
	Mice homozygous for the Nek8^jck mutation develop polycystic kidney disease. Histology revealed that the kidneys of some 3 day old pups from heterozygous parents had small isolated cysts lined by cuboidal epithelial cells, and 15 day old pups had cysts lined by flattened epithelia. Disease is progressive but not evident by kidney palpation until at least 4 to 5 weeks of age. Homozygotes generally remain active until shortly before death and usually die between 20 and 25 weeks of age. Homozygous females are fertile but do not consistently care for their litters; homozygous males are fertile but decreased fertility is reported after 15 weeks of age. No histologic abnormalities were found in the liver, spleen, or pancreas. (Atala et al., 1993)
008188	C57BL/6J-Npr3^lgj-3J/GrsrJ	Cryopreserved - Ready for recovery
	Homozygotes can be detected by 5 to 7 weeks of age due to their elongated bodies, kinked tails, and conical extension of the body. With age, homozygotes appear thinner than normal with thoracic kyphosis. Their digits are often banded, twisted and deformed. A hearing deficit is also found in homozygotes assessed between 3 and 5 weeks of age.
001136	C57BL/6J-Oca2^p-un+2J/J	Cryopreserved - Ready for recovery
	Homozygotes and heterozygotes for this revertant allele are phenotypically indistinguishable from wild-type.
001506	C57BL/6J-Oca2^p-un+3J/J	Cryopreserved - Ready for recovery
	Homozygotes and heterozygotes for this revertant allele are phenotypically indistinguishable from wild-type.
001810	C57BL/6J-Oca2^p-un+4J/J	Cryopreserved - Ready for recovery
	Homozygotes and heterozygotes for this revertant allele are phenotypically indistinguishable from wild-type.
001513	C57BL/6J-Oca2^p-un+5J/J	Cryopreserved - Ready for recovery
	Homozygotes and heterozygotes for this revertant allele are phenotypically indistinguishable from wild-type.
001499	C57BL/6J-Oca2^p-un+6J/J	Cryopreserved - Ready for recovery
	Homozygotes and heterozygotes for this revertant allele are phenotypically indistinguishable from wild-type.
001033	C57BL/6J-Oca2^p-un+J/J	Cryopreserved - Ready for recovery
	Homozygotes and heterozygotes of this revertant allele are phenotypically indistinguishable from wild-type.
000028	C57BL/6J-Oca2^p-un/J	Cryopreserved - Ready for recovery
	The pink-eyed unstable (Oca2^p-un) mutation comprises a 70-kb, head-to-tail duplication of a transcribed region of the Oca2^p gene. Oca2^p-un homozygotes have a greatly diluted coat color and pink eyes; however, approximately 3.5% of Oca2^p-un/Oca2^p-un mice are mosaic for wild-type coat color (Melvold et al., 1971) because of somatic reversion of the mutation involving loss of the duplicated segment (Brilliant et al.1991, Gondo et al. 1993).
001672	C57BL/6J-Otc^spf-J/J	Cryopreserved - Ready for recovery

010747	C57BL/6J-Otog^twt-4J/Kjn	Cryopreserved - Ready for recovery
	Mice homozygous for the twisted 4 Jackson mutation have a severe head-tilt but do not circle the way other twisted mutants do. In a swim test they swim tilted to one side usually just below the surface of the water. ABR readings show that these mice are severely hearing impaired at wean age and profoundly deaf by 70 days of age. Otoconial deficiencies exist that are likely due to displacement of the otolithic membrane.
000531	C57BL/6J-Otx1^jv/GrsrJ	Cryopreserved - Ready for recovery
	Mice homozygous for the Jackson waltzer mutation run in circles and shake their heads. The lateral semicircular canal and its cristae are absent, and the sacculus and utriculus may be morphologically abnormal. However, hearing is unaffected. This pheontype is similar to that reported for the Otx1^tm1Asim targeted mutation and complementation testing with this targeted mutation showed jv to be an allele of Otx1. (Note that C57BL/6J is homozygous for ahl, the age related hearing loss 1 mutation, which on this strain background causes progressive hearing loss with onset after 10 months of age.) Homozygotes can swim.
000565	C57BL/6J-Pax3^Sp-d/J	Cryopreserved - Ready for recovery
	Mice homozygous for the splotch-delayed spontaneous mutation (Pax3^Sp-d) have a phenotype that is generally less severe than mice homozygous for the splotch mutation (Pax3^Sp, Stock No. 002469). Splotch-delayed homozygous embryos survive to birth, compared to splotch mutant embryos that die at E13 due to neural tube defects. Homozygous splotch-delayed mutant embryos display caudal rachischisis only. Heterozygous splotch-delayed have a white belly spot. Delayed splotch is a point mutation within the paired domain of Pax3. This impairs DNA binding of this domain and also, suprisingly, of the homeodomain, not directly affected in the mutant gene.
002072	C57BL/6J-Pcdh15^av-3J/J	Cryopreserved - Ready for recovery
	There have been several remutations to Ames waltzer (av) have occurred in stocks at The Jackson Laboratory. All mice homozygous for these remutations show the characteristic head-tossing, circling, and deafness characteristic of Ames waltzer. Ames wa ltzer 2J homozygous mutant mice (av^2J/av^2J) are more severely afflicted than mice homozygous for the other Jackson (J) remutations. av^2J/av^2J homozygotes become disoriented and sink in swim tests; Ames waltzer 3J homozygotes (av^3J/av^3J), like Ames waltzer-J (av^J/av^J), swim with difficulty and circle afloat. In the membranous labyrinth the fluid spaces in the Organ of Corti fail to develop. Later, hair cells and spiral ganglion cells degenerate.
000118	C57BL/6J-Ph/J	Cryopreserved - Ready for recovery

003484	C57BL/6J-Pou4f3^ddl/J	Cryopreserved - Ready for recovery

010825	C57BL/6J-Ptpn6^me/SzJ	Cryopreserved - Ready for recovery
	Mice homozygous for the motheaten spontaneous mutation (Ptpn6^me) develop severe autoimmune disease. Characteristics include granulocytic skin lesions, pneumonitis, impaired humoral and cell-mediated immune responses, decreased responses to T cell and B cell mitogens and deficient cytotoxic T cell and NK cell activity. B cells are LY-1+. Homozygous mutant mice also exhibit hyperimmunoglobulinemia, and express multiple autoantibodies. Macrophages show increased proliferative capacity. In addition to defects in the immune system, motheaten mice show classic symptoms of osteoporosis due to an increased number and activity of osteoclasts in the bone marrow. The lifespan of homozygous motheaten mice is approximately 3 weeks with death attributed to an autoimmune pneumonitis.
000976	C57BL/6J-Rab38^cht/J	Cryopreserved - Ready for recovery
	On the C57BL/6J background Rab38^cht/Rab38^cht mice have a rich dark chocolate coat color instead of the normal black coat. This can be difficult to distinguish, but is made easier by the lightened color in the ear pinnae and tail. At birth the eyes of Rab38^cht/Rab38^cht mice are lighter in color than wild type C57BL/6J mice. The melanosomes in melanocytes cultured from newborn C57BL/6J mice are oval and intensely black while those of chocolate mice are circular and brown. The end-stage melanosomes of chocolate mice contain less TYRP1 than do wild type mice. Mutations in Tyrp1 result in increased brown rather than black pigment. Thus, Loftus et al. have hypothesized that the chocolate mutation results in decreased black pigmentation because RAB38 is important in the vesicular trafficking that moves TYRP1 from the trans-Golgi network to the end-stage melanosome. Many of the pigment diluting mutations with ..... For more information please see the full phenotype on the strain data sheet
000110	C57BL/6J-Rabggta^gm/J	Cryopreserved - Ready for recovery
	Mice homozygous for the Rabggta^gm allele are grayish-black on a non-agouti background due to pigment dilution. Eye color is not affected. Homozygotes have reduced viability and do not breed well. These mutants have a prolonged bleeding time. Although gunmetal mice have an increased number of megakariocytes, they have about half the number platelets found in wildtype siblings. This decrease in platelet number results from a slower rate of platelet synthesis. These platelets are heterogeneous in size and are larger than normal, but have fewer dense granules per platelet and approximately half of the normal level of serotonin. The prolonged bleeding time and decreased platelet count and volume can be transferred to wildtype mice through bone marrow transplantion. Likewise bone marrow transplants from wildtype mice reversed the platelet deficiency in gunmetal recipients. Western blots of platelet extracts showed a decrease in fibrinogen, von Willebrand factor, and platel ..... For more information please see the full phenotype on the strain data sheet
005482	C57BL/6J-Shar/J	Cryopreserved - Ready for recovery
	By 3 weeks of age mice carrying the dominant Shar mutation have a shiny and rough coat that has a greasy appearance.
000219	C57BL/6J-Slc30a4^lm/J	Cryopreserved - Ready for recovery
	Female mice homozygous for the lethal milk mutation (Slc30a4^lm, formerly Znt4^lm) produce milk that is lethal to mice nursed during the first week of life and detrimental to mice nursed thereafter. The lethal and detrimental effects are due to a deficiency of zinc in the milk. If foster nursed on normal dams, lethal milk homozygotes survive and become reproductively mature. Zinc supplementation of the drinking water of dams enables them to nurse their young successfully. All homozygous mutant mice lack utricular otoliths and this defect is not prevented by zinc supplementation. They have varying loss of saccular otoliths and show mild behavioral abnormalities related to the otolith defect. Homozygotes over eight months of age show progressive hair loss, dermatitis, and skin lesions, symptoms of zinc deficiency.
000003	C57BL/6J-Slc45a2^uw/J	Cryopreserved - Ready for recovery

005135	C57BL/6J-Sls/GrsrJ	Cryopreserved - Ready for recovery

000563	C57BL/6J-Sobp^jc/J	Cryopreserved - Ready for recovery
	Mice homozygous for the Jackson circler spontaneous mutation (Sobp^jc) show erratic circling behavior which becomes more pronounced with age. Homozygous mutant mice are very active, bobbing up and down and flexing head and trunk ventrally towards the tail and mice can swim. Mice can be identified at weaning by a characteristic flexing behavior when suspended by tail.
001028	C57BL/6J-Spnb4^qv-3J/J	Cryopreserved - Ready for recovery
	Mice homozygous for the quivering 3 Jackson spontaneous mutation (Spnb4^qv-3J) are very similar to mice homozygous for the quivering-Jackson mutation (Spnb4^qv-J). Homozygous quivering mutant mice are characterized by locomotor instability, pronounced quivering, deafness, varying degrees of paralysis of the hindlegs, clasping of the hindlegs when held up by the tail, and priapism in most males. Serial sections of the brain, cord, and nerve roots reveal no abnormalities, and urinary amino acids are normal. The inner ear is histologically normal and has normal thresholds for compound action potentials at the round window. However, the thresholds for potentials in the inferior colliculus are twice as high as normal, showing that the deafness, unlike that of any other deaf mutants in the mouse, is of central origin. Viability of homozygous mutant mice at weaning is normal, but the life span is short, the majority dying before 5 months of age. Males are st ..... For more information please see the full phenotype on the strain data sheet
004587	C57BL/6J-Szt1/FrkJ	Cryopreserved - Ready for recovery
	View strain phenotype and additional information on the Neuroscience Mutagenesis Facility web page for Szt1 entry.
000545	C57BL/6J-T^2J/J	Cryopreserved - Ready for recovery

001199	C57BL/6J-T^5J/J	Cryopreserved - Ready for recovery

000543	C57BL/6J-Tmie^sr/J	Cryopreserved - Ready for recovery
	Mice homozygous for the spinner spontaneous (Tmie^sr) show the typical head tossing, circling, deafness, and hyperactivity of the shaker and waltzer mutants. Abnormal behavior in homozygous mutant mice can be recognized as early as 7 days. Inner ear abnormalities consist of degeneration of the organ of Corti and spiral ganglion, reduction in size of the stria vascularis of the cochlea, and degeneration of the saccular macula. Both sexes are fertile, but females are not good mothers.
000068	C57BL/6J-Tyrp1^b-J/J	Cryopreserved - Ready for recovery

000708	C57BL/6J-Utp14b^jsd/J	Cryopreserved - Ready for recovery

000520	C57BL/6J-Vps33a^bf/J	Cryopreserved - Ready for recovery
	Mice homozygous for the recessive buff (Vps33a^bf) mutation on a non-agouti (a/a) background have a lightened coat color that has been described as khaki. On an agouti background, Vps33^bf homozygotes have dark ears, opaque eyes, and the belly is lighter in color than is the rest of the coat. Although no change in eye color is outwardly evident, electron microscopy shows fewer and smaller melanosomes than normal in the retinal pigment epithelium and choroid. These mutants have a platelet-storage pool defect evidenced by an increased bleeding time of 9.7 minutes on average, a reduction in the number of platelet dense granules, and slightly decreased collagen-mediated platelet aggregation, secretion of dense-granule ATP and secretion of seratonin. Hakansson and Lundin found increased activity of the lysosomal glycosidases beta- galactosidase, beta-glucuronidase, and N-acetyl-beta-hexosaminidase in kidney cell lysates. Suzuki et al. found n ..... For more information please see the full phenotype on the strain data sheet
000055	C57BL/6J-a^t-33J/J	Cryopreserved - Ready for recovery

000070	C57BL/6J-a^td/J	Cryopreserved - Ready for recovery

005330	C57BL/6J-hpbk/GrsrJ	Cryopreserved - Ready for recovery
	Mice homozygous for the humpback mutation appear normal at wean age, but by 5 weeks of age can be distinguished by thoracic kyphosis and scrawniness. Both phenotypes progress with age, and sudden death is common in adults. Histology reveals myopathy. Homozygotes females are not able to deliver pups and homozygous males develop phimosis so do not breed.
006948	C57BL/6J-hstp/J	Cryopreserved - Ready for recovery
	Mice homozygous for the high stepper mutation display an abnormal gait in which they pull their rear legs up to the body as they walk. They also draw the rear legs to the belly when picked up by the tail. Electroretinogram recordings are abnormal for all homozygotes on a pure C57BL/6J background or on a (C57BL/6J x CAST/EiJ)F2 background. Histology of the eye shows rosettes and misplaced ganglion cells by approximately 2 weeks of age.
006107	C57BL/6J-rslk^2J/GrsrJ	Cryopreserved - Ready for recovery
	Homozygotes have white spotting and a diluted gray coat color.
000108	C57BL/6J-sea/J	Cryopreserved - Ready for recovery
	Mice homozygous for the sepia (sea) mutation have a pigment dilution that is similar to but not as severe as that of beige (Lyst^bg) mutants. On a nonagouti background sea/sea mice have lighter colored coat, ears and tail relative to their heterozygous and wildtype siblings, but do not have a detectable dilution in eye pigment at birth (Sweet and Lane, 1977). Unlike other coat color dilution mutations (including beige, reduced pigmentation, pallid, and pale ear) sepia mice do not have a diminution in NK cell activity (Orn et al., 1982).
001009	C57BL/6J-tp^3J/J	Cryopreserved - Ready for recovery
	Taupe is a recessive spontaneous mutation that causes a lightening of the coat color such that a/a tp/tp mice are slate grey. The coat color is similar to that of the ruby (ru) mutation but the eye color is not affected and the belly fur is lighter in color with yellow at the margins. tp/tp females do not have normal nipple development, although the mammary ducts and alveoli develop normally. These females also have difficulty with pregnancy and birth. They can not rear their pups even if the pups are born alive so this strain is maintained by breeding heterozygous females to homozygous males. (Fielder, 1952; Fielder, 1950.)
005962	C57BL/6J-uwl/GrsrJ	Cryopreserved - Ready for recovery
	At birth homozygotes have unpigmented eyes and a very light skin color. The eyes become ruby colored as the mouse matures, but the skin color remains light. The coat is a very light cream color, which is a more severe dilution than that of the original underwhite mutation.
004667	C57BL/6JEi-tth/J	Cryopreserved - Ready for recovery
	Mutant mice are identified visibly at three weeks of age by the presence of a tilted head and a tremor visible when walking. When picked up by the tail mutant mice display increased agitation followed by an increase in tremor and hyperactivity. Most mutant mice lean to one side, and this is most noticeable by their tilted head. The tilted head is not completely penetrant as some mutants appear only to tremble. Progeny from the tremor-only mice yield both mice with tremor and mice with tremor and head tilt. The two phenotypic characteristics are inseparable. Female mutant mice breed and raise their pups successfully while male mutant mice do not breed. Sperm from mutants are 66-75% motile and appear to have normal morphology, thus male infertility is not likely due to defective sperm. Auditory brain stem response (ABR) results reveal no significant differences in hearing thresholds between homozygous mutant animals and controls, and no inner ear abnormalities were detected.
003655	C57BL/6JEi-wn^J/J	Cryopreserved - Ready for recovery
	Homozygotes have white spots on a black coat background. The hair, skin, and tail have the large white spots.
007599	C57BL/KaLawRij-Sharpin^cpdm/RijSunJ	Cryopreserved - Ready for recovery
	Mice homozygous for this spontaneous mutation develop a severe, chronic, inflammatory skin disease beginning at 3-5 weeks of age. Mice appear runted and life span is shortened. In addition to dermatitis, homozygotes exhibit multi-organ inflammation with eosinophilia, defective TH1 cytokine production, splenomegaly, absent Peyer's patches (adult), diminished serum immunoglobulins, and an absence of B cell follicles, follicular dendritic cells, and germinal centers in secondary lymph organs. This mutant mouse strain may be useful in studies related to eosinophilic dermatitis, inflammation, and secondary lymphoid organ deveopment.
000144	C57BLKS-sch/J	Cryopreserved - Ready for recovery

008625	C57BLKS/J-Cacna2d2^du-2J/LetJ	Cryopreserved - Ready for recovery
	Mice homozygous for ducky-2J mutation exhibit ataxia and paroxysomal dyskinesia, however, they lack the "ducky" gait found in mice homozygous for the ducky allele (du) . EEG recordings reveal infrequent bilateral spike wave discharges accompanied by behavioral arrest. Absence seizures are increased in comparison to ducky mice (personal communication). This strain may be useful for studies of epilepsy and voltage-dependent calcium channels.
002760	C57BLKS/J-Npc1^spm/J	Cryopreserved - Ready for recovery
	The sphingomyelinosis mutation (Npc1^spm) arose in the C57BLKS inbred strain. Homozygous mutant mice begin to lose weight and to show tremor and ataxic gait at about 7 weeks of age. Weight loss continues and tremor and ataxia become more severe until death at about 12 to 14 weeks of age. The liver and spleen are also enlarged and Purkinje cells in the cerebellum are severely depleted. Sphingomyelin and free cholesterol are markedly elevated in liver and spleen but not in brain. Sphingomyelinosis closely resembles that of human Niemann-Pick Type C disease patients. A dual deficiency of sphingomyelinase and glucocerebrosidase activity has been described in BALB/c mice (npc1^N) with resemblance to the sphingomyelinosis condition.
005420	C;129S7 Gt(ROSA)26Sor-Bmp5^cfe-se7J/J	Cryopreserved - Ready for recovery
	Homozygotes have small, round ear pinnae with ridges along the perimeter and both ears are affected. This mutation is 100% penetrant. Unlike short ear mutations of this gene, skeletal abnormalities were not detected by X-ray for this mutant. Both males and females are fertile.
003913	C;STOCK Npr2^cn/J	Cryopreserved - Ready for recovery

003711	CAST.B6-Tub^tub/Jng	Cryopreserved - Ready for recovery
	Mice homozygous for the tubby spontaneous mutation experience maturity-onset obesity. Homozygous mutant mice are recognizable by increased body weight at 3 to 4 months in males and at 4 to 6 months in females. Both sexes are fertile. The increased weight is composed of excess adipose tissue. Blood glucose is normal, but plasma insulin is increased prior to obvious signs of obesity and may rise to 20 times normal by 6 months on the C57BL/6 background. Despite elevated plasma total cholesterol, triglycerides, and high-density lipoprotein cholesterol, homozygous mutant mice do not exhibit atherosclerotic fatty streak blood vessel lesions. Tubby mutant mice also exhibit retinal degeneration, initially believed due to the presence of another mutation which was called rd5, but since demonstrated to be a pleiotropic effect of the Tub^tub mutation (Ohlemiller et al., 1997); the retinal phenotype is moderated by a QTL on Chromosome 11 (Ikeda et al., 2002). ..... For more information please see the full phenotype on the strain data sheet
000574	CBA-Pdss2^kd/J	Cryopreserved - Ready for recovery
	Mice homozygous for the kidney disease spontaneous mutation (Pdss2^kd) develop autoimmune nephrosis recognizable at about 10 weeks of age by increased proteinuria and followed by excessive drinking, loss of weight, anemia, and death usually by 5 to 7 months. The process is mediated by an antigen-specific, H2^k-restricted effector cell. The phenotype resembles human nephronophthisis.
000707	CBA.Cg-Dock7^m Lepr^db/+ +/J	Cryopreserved - Ready for recovery
	Lepr^db/Lepr^db mice on the CBA strain background are characterized by exocrine pancreatic necrosis and kidney lesions in aging mice. In contrast to the obesity observed in other strain backgrounds, five month old homozygous males exhibit weight loss in comparison to controls. Homozygous males develop severe hyperglycemia exhibiting blood sugar levels of +/-475 mg/dl by three months of age and increasing to +/- 517 mg/dl by five months. Five month old homozygous males do not exhibit hyperinsulinemia, however homozygous females reach levels of +/-540 uU/ml. Homozygous males do not survive beyond six months (Leiter EH et al, 1981). Because of the sterility of Lepr^db homozygotes, misty has been incorporated into stocks for maintenance of the diabetes mutation. The repulsion double heterozygote (Lepr^db +/+ Dock7^m) facilitates identification of heterozygotes for breeding, while the coupling ..... For more information please see the full phenotype on the strain data sheet
006169	CBA.Cg-Tmc1^dn/AjgJ	Cryopreserved - Ready for recovery
	Homozygotes for this spontaneous mutation exhibit degeneration in the spiral ganglion neurons as well as the organ of Corti and the saccular macula. Mice are deaf throughout life. This strain may be used to research inherited deafness.
002489	CBA/CaGnLe-Cryaa^lop18/J	Cryopreserved - Ready for recovery
	Mice homozygous for Cryaa^lop18 develop large, dense nuclear cataracts. At embryonic day (E) 10 the lens vesicle in these homozygotes buds out from the surface ectoderm. At E14 tiny vacuoles develop in the lens, these are larger at E16, and by four months of age there is advanced degeneration of the cortex with posterior migration of the lens epithelial nuclei and the posterior pole of the lens shows abnormal lens fibers. However, the cataracts were not found to progress further after this age. (Chang et al., 1996.)
000813	CBA/J-Atp7a^Mo-pew/J	Cryopreserved - Ready for recovery
	The Atp7 genes encode Cu2⁺ ATPases. Atp7a is the mouse ortholog of the human ATP7A gene, which is mutated in children with Menke's syndrome. The range of defects in both Menke's syndrome and in mice having mutations of Atp7a--the mottled series of mutants--are due to deficiencies in a number of copper-requiring enzymes, in turn attributed to an intracellular copper transport defect. Thus, it is likely that the Atp7a gene product functions as a copper transport protein. (For brief review and references, see Levinson et al., 1994.) Atp7a^Mo-pew, the mottled-pewter mutation, has the mildest effect of the known mutations at this locus. The sole phenotype noted in hemizygous males and homozygous females is their pale, silvery gray coat color. The coats of affected mice of both sexes are initially agouti; males become pewter by about 4 weeks and females at 5-6 weeks of age. Heterozygous females have normal, agouti coats throug ..... For more information please see the full phenotype on the strain data sheet
001006	CBA/J-Tyr^c-10J/J	Cryopreserved - Ready for recovery

003398	CBA/J-dal/GrsrJ	Cryopreserved - Ready for recovery
	Dark-like dal is a recessive mutation causing a darkened coat color, smaller size, gonad abnormalities, and dark staining urine. dal maps to Chromosome 7 and a previously described mutation named dark da maps to the same chromosomal region. Dark-like may be a remutation to dark da.However a test for allelism is not possible because dark is thought to be extinct. Mice homozygous for the dal mutation are easily recognized by 14 days of age by their darkened coats and smaller size. Some homozygotes appear, both phenotypically and pathologically (dense bones), to have skeletal abnormalities however X-rays appear normal. At 7 months of age females had no follicles and many corpora lutea and males mild testicular degeneration with increased Leydig cells. Serum assays for Albumin, BUN, Creatine, Bilirubin, and iron showed no significant differences from controls.
002457	CBA/J-wl^3J/J	Cryopreserved - Ready for recovery

001876	CBA/KlJms-Fas^lpr-cg/J	Cryopreserved - Ready for recovery
	Mice homozygous for the lymphoproliferation complementing gld spontaneous mutation (Fas^lpr-cg) are viable and fertile. Homozygous mutant mice are characterized by massive lymphadenopathy. Fas^lpr-cg complemented both Fas^lpr and the Fasl^gld mutation in that double heterozygotes with either mutation had lymphadenopathy. However, further crosses showed the new mutation to be an allele at Fas^lpr. Like Fas^lpr and Fasl^gld homozygotes, CBA/KlJms-Fas^lpr-cg homozygotes produce antibodies to some nuclear antigens, such as dsDNA, ssDNA, and poly(ADP-ribose); however, they do not produce anti-erythrocyte antibodies. Although they exhibit lymphoid cell infiltration around blood vessels in lung, liver, and kidney, they lack the immune-complex glomerulonephritis, vasculitis, and interstitial pneumonia characteristic of Fas^lpr homozygotes.
006130	CBACa.Cg-Scrib^Crc/RachJ	Cryopreserved - Ready for recovery
	Mice homozygous for this spontaneous mutation develop severe neural tube defects and die at birth. In it's most severe form, the neural tube fails to initiate Closure 1 (craniorachischichisis). Heterozygotes, predominantly males, often exhibit a looping or kinked tail. This strain may used to research neural tube defects.
005274	CBACaGnLe.Cg-Xls/GrsrJ	Cryopreserved - Ready for recovery
	The dominant mutation X-linked stripe seems to be a hemizygous lethal mutation since no affected males have been observed. On this CBA background, heterozygous females have an agouti coat color with stripes and a white patch on the left hind flank.
000805	CBy.RF-Tshr^hyt/J	Cryopreserved - Ready for recovery
	Mice homozygous for the hypothyroid spontaneous mutation (Tshr^hyt) are characterized by growth retardation, low thyroid hormone levels, elevated thyroid stimulating hormone (TSH) and hypoplastic thyroid glands. Homozygous mice of both sexes are infertile but fertility as well as growth can be restored by treatment with thyroid hormone. The mice do not respond to exogenous TSH. Homozygous mutant mice also display audiotory defects characterized by morphologic abnormalities of the stereocilia on both inner and outer hair cell systems
005421	CBy;B6-Bmp5^cfe-se8J/J	Cryopreserved - Ready for recovery
	Homozygotes have small, round ear pinnae with ridges along the perimeter and both ears are affected. This mutation is 100% penetrant. Unlike short ear mutations of this gene, skeletal abnormalities were not detected by X-ray for this mutant. Both males and females are fertile.
004913	CByJ.B6-Inpp4a^wbl/FrkJ	Cryopreserved - Ready for recovery
	Mice homozygous for Inpp4a^wbl exhibit small size, ataxia, and cell death in the cerebellum, hippocampus (CA1) and neocortex. Homozygotes die between two and five weeks probably from seizures and/or failure to thrive. Heterozgotes do not display an overt locomotor defect.
001265	CByJ.Cg-Clcn1^adr-mto2J/J	Cryopreserved - Ready for recovery
	Mice homozygous for the myotonia spontaneous mutations exhibit classical myotonia similar to that described in human myotonic diseases. Homozygous mutant mice are recognizable at 2 weeks of age or earlier by prolonged, stiff extension postures of the limbs when the cage is shaken or the mouse is dropped from about 10 cm. This behavior persists throughout life. When undisturbed, affected animals walk almost normally, although somewhat stiffly. They grow more slowly and weigh about 40% less than controls in adulthood. Electromyographic studies revealed changes characteristic of myotonia. These discharges do not originate in peripheral nerves, and there is no evidence of muscle fiber necrosis.
000711	CByJ.Cg-Foxn1^nu/J	Cryopreserved - Ready for recovery
	The two main defects of mice homozygous for the nude spontaneous mutation (Foxn1^nu, formerly Hfh11^nu) are abnormal hair growth and defective development of the thymic epithelium. Although the mice appear hairless, they are born with functional but faulty hair growth follicles. Hair growth cycles and patterns are evident especially in pigmented mice but the faulty follicles do not allow the hair to properly erupt. Homozygous pups can be identified as young as 24 hours by their lack of whiskers or poorly developed, crinkled whiskers. Nude mice are also athymic caused by a developmental failure of the thymic anlage. Consequently, homozygous nude mice lack T cells and suffer from a lack of cell-mediated immunity. However there is not a defect in T-cell precursors, and under the right conditions some functional mature T cells can be found especially in adult mice. Because of a defect in helper T-cell activity, responses to thymus-dependent antigens when d ..... For more information please see the full phenotype on the strain data sheet
000293	CHMU/LeJ	Cryopreserved - Ready for recovery
	Mice homozygous for the congenital hydrocephalus (Foxc1^ch) spontaneous mutation die at birth, probably from inability to breathe. Homozygous mutant mice have bulging hemorrhagic cerebral hemispheres and open eyelids, urogenital abnormalities, and severely abnormal skull, cervical vertebrae, sternum, laryngeal cartilages, and hyoid bone. The hydrocephalus may trace to lack of formation of subarachnoid space, which is first detectable in 11-day embryos. Most of the defects in the head region are probably secondary to the severe displacements created by the hydrocephalus. Mice homozygous for the muted spontaneous mutation (Muted^mu), maintained in repulsion with congenital hydrocephalus, have light eyes at birth and their fur is a muted brown shade, often with white underfur. Some have a balance defect, similar to that of pallid (Pldn^pa). Homozygous mutant mice show head-tilting and loss of postural reflexes, due to absence of otoliths ..... For more information please see the full phenotype on the strain data sheet
004223	CHa.SWV(C3Fe)-Mbp^shi/J	Cryopreserved - Ready for recovery

000284	CWD/LeJ	Cryopreserved - Ready for recovery

003589	D.B/20Ei-Lama2^dy-6J/J	Cryopreserved - Ready for recovery
	Mice homozygous for the dystrophia-muscularis spontaneous mutations are characterized by progressive weakness and paralysis beginning at about 3 1/2 weeks of age. The hindlimbs are affected first, later the axial and forelimb musculature. Death usually occurs before 6 months of age, and mutant mice are usually sterile. Skeletal muscle shows degenerative changes with proliferation of sarcolemmal nuclei, increase in amount of interstitial tissue, and size variation among individual muscle fibers. In the dorsal and ventral roots of the peripheral nerves, both spinal and cranial, Schwann cells fail to separate and ensheathe axons so that groups of closely apposed naked axons, normally seen only in early stages, persist into adulthood. In the rest of the PNS, the basement membrane of Schwann cells is interrupted by gaps, the internodal gap in the nodes of Ranvier is lengthened, and there is delayed onset of myelination with fewer myelinated axons and shorter internode length. In an att ..... For more information please see the full phenotype on the strain data sheet
004416	D2(B6Ei)-twit/GrsrJ	Cryopreserved - Ready for recovery
	Mice homozygous for this recessive mutation are recognizable by 2.5 - 3 weeks of age by their smaller body size, gaunt torso, frailty, and constant quivering which is most obvious from the nose to the abdominal-thoracic area. Mutants also show poor ability to hold onto an edge with either their fore- or hindlimbs. Adult mutants may chatter excessively. Some homozygous mutants die before weaning; others survive through adulthood but they are unreliable breeders. twithas been mapped between the flanking markers D14Mit44 and D14Mit175 in the B band of Chr 14 at 22.9 Mb and 27.9 Mb, respectively.
013719	D2.Cg-Apoe^tm1Unc Ins2^Akita/J	Cryopreserved - Ready for recovery
	Mice homozygous for the Akita spontaneous mutation typically die postnatally by 12 weeks of age. Independently, heterozygous Akita mutant mice are a model of insulin dependent diabetes mellitus (IDDM) with severe hyperglycemia (see the datasheet for Stock No. 007562 for additional information). Apoe-null homozygotes have marked increase in total plasma cholesterol levels that are unaffected by age or sex (see the datasheet for Stock No. 007067 for additional information). These double mutant mice (Apoe-null, Akita heterozygous) may be useful in studies of diabetes, metabolism, hyperglycemia, atherosclerosis, hypercholesterolemia, and diabetes-related macrovascular complications.
002838	DBA/1LacJ-Dsg4^lah-J/J	Cryopreserved - Ready for recovery
	Mice homozygous for the Dsg4^lah-J mutation completely lack vibrissae and develop only very short hair that resembles peach fuzz. This is lost by a few months of age, leaving these mice bald. They are runted from birth throughout life. These mice have hyperplasia in the interfollicular epidermis that leads to thickened skin, and their skin wrinkles as they age. Transmission electron micrographs of epidermis from Dsg4^lah-J homozygotes reveals acantholysis with small, poorly formed, and dislodged desmosomes. Rather than the normal gradual transition of keratinocytes from proliferation to differentiation in the lower hair follicle, the lanceolate hair mice show a premature, abrupt switch. Above the melanogenic zone a swelling forms that subsequently is pushed out by continued growth of the hair shaft to become the distal tip of the hair. Lanceolate hair mice take their name from the resulting lance-head shape of the hair. The less severely affect ..... For more information please see the full phenotype on the strain data sheet
004423	DBA/1LacJ-Lrp4^mdig/GrsrJ	Cryopreserved - Ready for recovery
	Homozygotes have variable brachydactyly and syndactyly of all four feet and incomplete polydactyly can occur in the front feet.
002304	DBA/1LacJ-Scd1^ab-2J/J	Cryopreserved - Ready for recovery
	The overall appearance of mice homozygous for either the Scd1^ab-J allele or the Scd1^ab-2J allele (Stock No. 002304 or 005956) includes slightly hunched posture, dry, scaly skin, thin fur sometimes detectable by 7 days of age, and small eyes with encrusted eyelids stuck shut. They have hypoplasia of the sebaceous glands and other hair follicle abnormalities that result in scarring alopecia. These mice have a paucity of adipose tissue, thin subcutis, and a distinctive odor. Hepatic cholesterol ester and triglyceride synthesis has been shown to be deficient in Scd1^ab-J homozygotes and could not be restored through diet. Early studies of skin lipids in the original asebia mutant (Scd1^ab) revealed a deficiency in wax esters, wax diesters, and sterols esterified with very long-chain fatty acids along with an i ..... For more information please see the full phenotype on the strain data sheet
004518	DBA/2J-Agtpbp1^pcd-5J/GrsrJ	Cryopreserved - Ready for recovery

002510	DBA/2J-Ap3b1^pe-8J/J	Cryopreserved - Ready for recovery
	Appearance: Ap3b1^pe-8J/Ap3b1^pe-8J, lighter brown than normal DBA/2J mice.
001594	DBA/2J-Dtnbp1^sdy/J	Cryopreserved - Ready for recovery
	The autosomal recessive mutation sandy (sdy) takes its name from the lightened coat color first identified on the DBA/2J background. As early as 7-8 days of age the pinnae, feet, tail and fur are lighter in color than those of wildtype littermates and the lack of eye pigment is a defining trait at birth. The eye color does not darken with age unlike muted (mu) homozygotes. On the agouti C3H background, sandy homozygotes look like muted homozygotes, but on the non-agouti C57BL/6J or DBA/2J backgrounds, sandy homozygotes look like pallid (Pldn^pa) homozygotes. The reduced pigmentation is linked to a storage pool deficiency. Sandy homozygotes have a prolonged bleeding time, in excess of 15 minutes, yet have normal platelet counts and normal sized platelets. Electron microscopy detects very few, if any, dense granules present in individual platelets of sandy homozygotes. Those that are detected are of normal size. Platelet serotonin levels are 7% that ..... For more information please see the full phenotype on the strain data sheet
000548	DBA/2J-Grid2^ho-4J/J	Cryopreserved - Ready for recovery

004641	DBA/2J-Grxcr1^pi-2J/J	Cryopreserved - Ready for recovery
	Mice homozygous for the pirouette 2 Jackson mutation display bi-directional circling and head bobbing and are completely deaf by ABR assessment. Consistent with a vestibular defect, they fail to swim at the surface of water, but instead roll underwater and sink before rescue.
001789	DBA/2J-ge/J	Cryopreserved - Ready for recovery

002337	DBA/2J-pdw/J	Cryopreserved - Ready for recovery
	Mice homozygous for the recessive proportional dwarf (pdw) mutation can be identified by 25 days of age, having shortened limbs, tail, head, and body. Abnormalities were not detected in growth plates and skeletal mineralization patterns. Some pre-wean mortality has been reported. Both female and male homozygotes are fertile. (Sweet et al., 1992.)
006057	DBA/2J-sky/J	Cryopreserved - Ready for recovery
	Mice homozygous for the severe kyphosis mutation have open eyelids at birth, a progressive S-shaped kyphosis of the lumbar region of the spine, and a resultant shortened trunk and higher tail position. Small granulomas in muscle and brown fat are also found. Death usually occurs between 3 and 6 months of age and homozygotes do not breed.
000252	DC/LeJ	Cryopreserved - Ready for recovery
	Mice heterozygous for the semidominant dancer mutation exhibit head tossing and circling behavior. Heterozygotes are not deaf, but have defects in the vestibular region (Wenngren et al., 1989). Homozygotes die at birth with cleft lip and cleft palate (Deol et al., 1966). Strain background influences cleft lip/palate expression in heterozygotes (Trasler et al., 1982). Positional cloning of Dc revealed a 3.3 kb insertion of the Tebp gene into the first intron of Tbx10. The insertion causes ectopic expression of a Tebp-Tbx10 chimeric transcript (Bush et al., 2004).
000253	DLS/LeJ	Cryopreserved - Ready for recovery
	Mice homozygous for the dilute-lethal spontaneous mutation (Myo5a^d-l) display a severe neuromuscular disorder characterized by convulsions and opisthotonus. Homozygous mutant mice usually die by approximately 3 weeks of age. Dilute lethal homozygotes lack smooth endoplasmic reticulum in the dendritic spine of Purkinje cells causing an absence of intracellular calcium. Loss of this intracellular calcium may be the cause of dilute-lethal neurological symptoms. Homozygous dilute-neurological mutant mice (Myo5a^d-n, Stock No. 001013) display a neuromuscular disorder, but the condition is less severe than in dilute-lethal homozygotes. In this DLS/Le inbred strain the dilute-lethal mutation is maintained in repulsion with short ear (Bmp^se), closely linked mutations on Chromosome 9.
001595	DW/J-Acd^acd/J	Cryopreserved - Ready for recovery
	acd/acd homozygotes can be distinguished from their wildtype (?/+) littermates by darkened pigmentation, short, curly vibrissae, smaller overall size, and abnormal pelage. Hair growth is retarded and lacks zigzag and guard hairs producing a sparse coat. There is heavy pigmentation in the nose, ears, body, feet and tail, and foci of melanin are also found in the skin and lymph nodes. Tail kinks or polydactyly of the hind feet are sometimes found and external genitalia are underdeveloped. It is rare for homozygotes to breed. Hydronephrosis is sometimes found in post-wean aged homozygotes resulting from focal hypertrophy of ureteral epithelium which causes ureteral blockage. The adrenals are abnormal in both males and females. Although the size of the medullary cells is normal, the cortical cells and nuclei are much larger than normal with nuclear inclusions and many mitochondria in the cytoplasm. These mitochondria have tubular cristae and cholesterol ester droplets, whic ..... For more information please see the full phenotype on the strain data sheet
000092	FL/1Re-Kit^W/J	Cryopreserved - Ready for recovery
	Flexed tail homozygotes can be identified hematologically as earlyas embryonic day 13 and are detectably paler than normal by embryonic day 16, with most paler than normal by embryonic day 15. Homozygotes are small at birth and have a transitory siderocytic hypochromic anemia due to defective heme synthesis in fetal but not adult reticulocytes. Fetal erythrocytes have more alpha hemoglobin synthesis than beta hemoglobin synthesis. Very high numbers of siderocytes are found at birth and this decreases during the first few weeks of life and stabilizes at approximately 3 weeks of age with 3% siderocytes, significantly higher than in wildtype adults. Most homozygotes have a belly spot and 1 to 5 flexures in the tail due to vertebral fusions. Vertebral fusions are also found elsewhere in the vertebral column. Fewer than expected homozygotes are generated indicating prenatal death and the postnatal death rate is approximately 4 times normal. A small minority of homozygotes have been ..... For more information please see the full phenotype on the strain data sheet
000023	FL/1ReJ	Cryopreserved - Ready for recovery
	Flexed tail homozygotes can be identified hematologically as earlyas embryonic day 13 and are detectably paler than normal by embryonic day 16, with most paler than normal by embryonic day 15. Homozygotes are small at birth and have a transitory siderocytic hypochromic anemia due to defective heme synthesis in fetal but not adult reticulocytes. Fetal erythrocytes have more alpha hemoglobin synthesis than beta hemoglobin synthesis. Very high numbers of siderocytes are found at birth and this decreases during the first few weeks of life and stabilizes at approximately 3 weeks of age with 3% siderocytes, significantly higher than in wildtype adults. Most homozygotes have a belly spot and 1 to 5 flexures in the tail due to vertebral fusions. Vertebral fusions are also found elsewhere in the vertebral column. Fewer than expected homozygotes are generated indicating prenatal death and the postnatal death rate is approximately 4 times normal. A small minority of homozygotes have been ..... For more information please see the full phenotype on the strain data sheet
000025	FL/4ReJ	Cryopreserved - Ready for recovery

000619	FS/EiJ	Cryopreserved - Ready for recovery
	The FS/Ei strain was originally used as a linkage testing stock for gene mapping. It is homozygous for several visible recessive mutations including brown (Tyrp1^b), pink-eyed dilution (Oca2^p), chinchilla (Tyr^c-ch), frizzy (fr), and the neurological mutation shaker 1 (Myo7a^sh1). It is also homozygous for a couple allelic variants that can be easily typed (Mod2^b and Hbb^d). Mice homozygous for the shaker 1 show circling, head-tossing, deafness, and hyperactivity characteristic of this type of mutant mice. Viability is normal, and breeding ability is high for a circling mutant. Homozygous mutant mice are most often deaf and swim well on the surface of water up to 4 weeks of age and more but lose the ability later. The degenerative changes of the labyrinth may occur a little later than in some of the other waltzing mutants. By light microscopy, the changes are seen to consist ..... For more information please see the full phenotype on the strain data sheet
005976	FVB.B6-Dnm1^Ftfl/Frk	Cryopreserved - Ready for recovery
	The Fitful mutation is missense mutation resulting in an amino acid change in the middle domain of an alternatively spliced region. Although protein is expressed, it does not efficiently assemble into dynamin complexes. On the C57BL/6 background, mice homozygous for the semidominant, spontaneous mutation Fitful exhibit ataxia, hearing impairment, convulsive seizures and delayed growth. By post-natal day 12 (P12), mice can be distinguished from wildtype by an abnormal and uncoordinated stance and gait. Spontaneous tonic-clonic seizures begin by P14-16. Most homozygotes die by P18 as a result of lethal seizure or lack of nourishment due to physical weakening. Immunofluorescence microscopy of homozygote brains reveals smaller Purkinje cell dendritic trees than controls, which are characterized by a reduced dendritic arbor and degree of branching as well as spiny dendrites and a disorderly arrangement of soma. Heterozygous mice develop partial and generalized tonic-clonic seizures ..... For more information please see the full phenotype on the strain data sheet
006867	FVB.B6-Ins2^Akita/MlnJ	Cryopreserved - Ready for recovery
	FVB/NJ mice heterozygous for the Akita spontaneous mutation are viable and fertile. The donating investigator reports that the symptoms in heterozygous mutant mice are more severe than those observed in C57BL/6-Ins2^Akita mice (Stock No. 003548). These symptoms include hyperglycemia (females > 600mg/dl, males ~560 mg/dl), hypoinsulinemia, polydipsia, and polyuria, beginning at approximately 3-4 weeks of age. In contrast to Akita heterozygotes on a C57BL/6 background, FVB/NJ adult heterozygous females are more hyperglycemic than heterozygous males. Obesity and insulitis do not accompany diabetes. Ins2 is expressed in the fetal yolk sac and is maternally imprinted. Heterozygous mutant females become more hyperglycemic during pregnancy, and are susceptible to embryo malformations leading to reabsorption, even with insulin therapy. Heterozygous mutant males do not produce mutant and wild-type o ..... For more information please see the full phenotype on the strain data sheet
008343	FVB.Cg-Hydin^hy3/MlrJ	Cryopreserved - Ready for recovery
	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 phenotype on the strain data sheet
002714	FVB/NJ-Crm^3J/J	Cryopreserved - Ready for recovery
	Hemizygous males and homozygous females are pale yellow and heterozygous females are mosaic, pale yellow and albino. Under long wave ultraviolet light the coats of these mutants fluoresce and heterozygous females show a mosaic fluorescence. This mutation is only visible on mice with an otherwise white coat.
000804	HPG/BmJ	Cryopreserved - Ready for recovery
	Mice homozygous for the hypogonadal mutation (Gnrh1^hpg) are characterized by an overall underdevelopment of the reproductive tract. Male mice have a small penis and scrotum and a short ano-genital distance. All male reproductive organs are present but are immature. The testes are small and undescended. Spermatogenesis is arrested, usually by the diplotene stage. The vagina of female mice does not open fully, the uterus is thread-like, and the ovaries are very small. Homozygous mutant mice are deficient in LH, FSH, and gonadal steroids. They also exhibit aberrant PRL secretion patterns. Both sexes are sterile although fertility can be restored with hormone replacement.
001057	HPT/LeJ	Cryopreserved - Ready for recovery

000673	HRS/J	Cryopreserved - Ready for recovery
	Mice homozygous for the hr spontaneous mutation have a higher incidence and earlier onset of leukemia, reducible by virus-specific antibody. Deficiency of splenic T helper cells (Ly-1+) may account for low cellular immune response of homozygous mutant mice. The coat is normal on hr/hr mice up to 10 days but then hair is lost from the follicle. Waves of hair growth with few thin fuzzy hairs ocur at monthly intervals for some time but homozygotes eventually become continuously hairless. Vibrissae are repeatedly regrown and shed, becoming more abnormal with age. Toenails are long and curved. There is hyperkeratosis of stratified epithelium and the upper part of hair canals beginning at 14 days. Hair club formation is abnormal. Cysts form from the hyperkeratotic upper part of hair canals and sheaths of abnormal follicles stranded in dermis. Some cysts also form from sebaceous glands. All cysts undergo sebaceous transformation and later keratinization. HRS/J mice, fed an ather ..... For more information please see the full phenotype on the strain data sheet
000573	IS/CamRkJ	Cryopreserved - Ready for recovery

000259	JE/LeJ	Cryopreserved - Ready for recovery
	Mice homozygous for the jerker spontaneous mutation (Espn^je) show behavior typical of the circling mutants - head-tossing, circling, and hyperactivity. Homozygous mutant mice are deaf from birth and have no detectable stimulus-related cochlear potential at any stage. The abnormal behavior and deafness are associated with postnatal degeneration of the sensory cells of the cochlea and the sacculus and utriculus in homozygotes. The primary influence of the jerker gene appears to be on the apical hair cells, not development of neural structures. Heterozygous jerker mice undergo a similar type of degeneration, but the onset is delayed. Auditory brainstem response is totally absent in homozygotes while heterozygous mice undergo a progressive impairment with age. Flexed tail homozygotes can be identified hematologically as earlyas embryonic day 13 and are detectably paler than normal by embryonic day 16, with most paler than normal by embryonic day 15. Homozygotes ar ..... For more information please see the full phenotype on the strain data sheet
000260	JGBF/LeJ	Cryopreserved - Ready for recovery
	Mice homozygous for the recessive buff (Vps33a^bf) mutation on a non-agouti (a/a) background have a lightened coat color that has been described as khaki. On an agouti background, Vps33a^bf homozygotes have dark ears, opaque eyes, and the belly is lighter in color than is the rest of the coat. Although no change in eye color is outwardly evident, electron microscopy shows fewer and smaller melanosomes than normal in the retinal pigment epithelium and choroid. These mutants have a platelet-storage pool defect evidenced by an increased bleeding time of 9.7 minutes on average, a reduction in the number of platelet dense granules, and slightly decreased collagen-mediated platelet aggregation, secretion of dense-granule ATP and secretion of seratonin. Hakansson and Lundin found increased activity of the lysosomal glycosidases beta- galactosidase, beta-glucuronidase, and N-acetyl-beta-hexosaminidase in kidney cell lysates. Suzuki et al.> ..... For more information please see the full phenotype on the strain data sheet
000072	JGBF/LeTyJ	Cryopreserved - Ready for recovery
	Mice homozygous for the recessive buff (Vps33a^bf) mutation on a non-agouti (a/a) background have a lightened coat color that has been described as khaki. On an agouti background, Vps33a^bf homozygotes have dark ears, opaque eyes, and the belly is lighter in color than is the rest of the coat. Although no change in eye color is outwardly evident, electron microscopy shows fewer and smaller melanosomes than normal in the retinal pigment epithelium and choroid. These mutants have a platelet-storage pool defect evidenced by an increased bleeding time of 9.7 minutes on average, a reduction in the number of platelet dense granules, and slightly decreased collagen-mediated platelet aggregation, secretion of dense-granule ATP and secretion of seratonin. Hakansson and Lundin found increased activity of the lysosomal glycosidases beta- galactosidase, beta-glucuronidase, and N-acetyl-beta-hexosaminidase in kidney cell lysates. Suzuki et al. ..... For more information please see the full phenotype on the strain data sheet
000572	JIGR/DnJ	Cryopreserved - Ready for recovery
	JIGR/Dn is maintained with jittery (Atcay^ji) and grizzled (gr) in repulsion. Atcay^ji homozygotes can first be identified at approximately 12 days of age by a leaning, zig-zag gait when they attempt to run and by the difficulty they have righting themselves when placed on their backs. Disease progression is rapid such that within two more days mutants are found to crouch on their heels in a squatting position and can not run without falling. Within three to four days of the first symptoms, tetany is seen during exertion or excitement. This is initially most pronounced in the forelegs, which the mice beat up and down during these two- to three-second spasms. Failure to gain weight is seen by the third week of life and it is unclear whether this results from an inability to take in food. The severity and frequency of tetany increases, and during the fourth week weight loss and increased weakness precede death. The mean age of death is approxi ..... For more information please see the full phenotype on the strain data sheet
000289	LDJ/LeJ	Cryopreserved - Ready for recovery
	Attractin (ATRN) deficiencies cause darkened pigmentation, increased locomotor activity, decreased body weight, and vacuolization and myelination defects in the central nervous system. Agouti protein competes with alpha-melanocyte stimulating hormone (a-MSH) for binding of melanocortin 1 receptor (MC1R), and this in turn signals pigment type switching from eumelanin production to pheomelanin production. ATRN interacts with agouti possibly to facilitate the interaction with MC1R. In mice, ATRN deficiencies result in decreased pheomelanin production causing darkened ears, tail, feet, and coat color which becomes dark reddish brown as these mice age. Thus, the initial Atrn mutation reported by Lane and Green was called mahogany (Atrn^mg). ATRN deficiencies darken the coloring caused by nonagouti such that these mice are coal black with no white hairs behind the ears or around the perineum and have blacker ears, tail, and feet. ATRN deficiency can suppress the i ..... For more information please see the full phenotype on the strain data sheet
006058	LPT;C3-Dkd/GrsrJ	Cryopreserved - Ready for recovery
	Homozygotes have a darkened dorsal stripe that is visible as soon as the coat grows in.
000262	LS/LeJ	Cryopreserved - Ready for recovery
	Mice homozygous for the lethal spotting mutation (Edn3^ls) resemble piebald mice (Ednrb^s/Ednrb^s) mice. Homozygous mutant mice exhibit considerable white spotting and like homozygotes for the piebald-lethal allele (Ednrb^s-l) usually develop megacolon. Lethal spotting mutant mice usually die in the third week of life from the megacolon abnormality, which is associated with deficiency of intrinsic ganglion cells in the lower colon. A few homozygotes may survive and breed. This strain is also homozygous for the black and tan coat color mutation (a^t).
001850	MEV-Q/TyJ	Cryopreserved - Ready for recovery
	In 1989 Taylor and Rowe described generating a linkage testing stock homozygous for 11 ecotropic MuLV proviruses on 10 distinct chromosomes. The strain was named MEV/1Ty for Multiple Ecotropic proVirus. These proviral insertions can be identified via Southern blot analysis of PvuII or HindIII digests using the MuLV-specific pEcB4 probe. The first progenitor strain C58/J contributed the following proviruses identified by the PvuII junction fragments indicated in parenthesis: Emv20 (8.2kb), Emv21 (6.6 kb), Emv23 (3.7 kb), Emv24 (3.5 kb), Emv25 (3.4 kb), Emv26 (2.9 kb), and Emv27 (9.4 kb). The second progenitor strain AKXD-14/Ty contributed Emv11 (4.3 kb), Emv13 (3.4 kb), and Emv14 (8.6 kb) from AKR/J and Emv3 (5.2 kb) from DBA/2J. Emv3 is the proviral insertion causing the dilute allele of Myo5a. This strain is also homozygous for nonagouti (a). Further analysis of MEV/1Ty progeny identified subsequent MuLV provirus re-insertions that were used to ..... For more information please see the full phenotype on the strain data sheet
001855	MEV-V/TyJ	Cryopreserved - Ready for recovery
	In 1989 Taylor and Rowe described generating a linkage testing stock homozygous for 11 ecotropic MuLV proviruses on 10 distinct chromosomes. The strain was named MEV/1Ty for Multiple Ecotropic proVirus. These proviral insertions can be identified via Southern blot analysis of PvuII or HindIII digests using the MuLV-specific pEcB4 probe. The first progenitor strain C58/J contributed the following proviruses identified by the PvuII junction fragments indicated in parenthesis: Emv20 (8.2kb), Emv21 (6.6 kb), Emv23 (3.7 kb), Emv24 (3.5 kb), Emv25 (3.4 kb), Emv26 (2.9 kb), and Emv27 (9.4 kb). The second progenitor strain AKXD-14/Ty contributed Emv11 (4.3 kb), Emv13 (3.4 kb), and Emv14 (8.6 kb) from AKR/J and Emv3 (5.2 kb) from DBA/2J. Emv3 is the proviral insertion causing the dilute allele of Myo5a. This strain is also homozygous for nonagouti (a). Further analysis of MEV/1Ty progeny identified subsequent MuLV provirus re-insertions that were used to ..... For more information please see the full phenotype on the strain data sheet
000172	MK/ReJ	Cryopreserved - Ready for recovery

002757	MK;B6-Slc12a2^sy-ns/J	Cryopreserved - Ready for recovery
	Mice homozygous for the shaker with no syndactylism spontaneous mutation (Slc12a2^sy-ns) is allelic with the original radiaton-induced shaker-with-syndactylism mutation (sy). Homozygous mutant mice exhibit deafness and balance defects but have a normal foot morphology. Two other spontaneous alleles of sy, fused phalanges and fused phalanges 2 Jackson, do not affect hearing or behavior. Tests for allelism among mice with four different mutant alleles at the shaker-with-syndactylism locus (sy, sy^fp, sy^fp-2J, and Slc12a2^sy-ns) indicate that sy is a deletion including at least two genes associated with distinct phenotypes. Mice homozygous for sy have syndactylous feet and other skeletal malformations, are deaf, and exhibit abnormal behavior characteristic of vestibular dysfunction. Complementation test results indicate that sy, sy^fp and sy^fp-2J> ..... For more information please see the full phenotype on the strain data sheet
002983	MRL.CBAJms-Fas^lpr-cg/J	Cryopreserved - Ready for recovery
	Mice homozygous for the lymphoproliferation complementing gld spontaneous mutation (Fas^lpr-cg) are viable and fertile. Homozygous mutant mice are characterized by massive lymphadenopathy. Fas^lpr-cg complemented both Fas^lpr and the Fasl^gld mutation in that double heterozygotes with either mutation had lymphadenopathy. However, further crosses showed the new mutation to be an allele at Fas^lpr. Like Fas^lpr and Fasl^gld homozygotes, CBA/KlJms-Fas^lpr-cg homozygotes (Stock No. 001876) produce antibodies to some nuclear antigens, such as dsDNA, ssDNA, and poly(ADP-ribose); however, they do not produce anti-erythrocyte antibodies. Although they exhibit lymphoid cell infiltration around blood vessels in lung, liver, and kidney, they lack the immune-complex glomerulonephritis, vasculitis, and interstitial pneumonia characteristic of Fas^lpr<> ..... For more information please see the full phenotype on the strain data sheet
003896	MRL/MpJ Fas^lpr-Foxq1^sa-J/J	Cryopreserved - Ready for recovery
	MRL/MpJ, and one of its ancestral strains LG/J, display heightened wound healing relative to a panel of other inbred strains. At 4 weeks post-injury, 2mm ear punch wounds healed to 0-0.4mm in MRL/MpJ mice but were still 1.2-1.6mm in C57BL/6 mice. At 15 days post-injury C57BL/6 showed a maximal closure of 30% reduction in ear hole size while MRL showed 85% reduction. The process of healing in MRL/MpJ mice was faster, more complete, showed increased swelling, angiogenesis, fibroblast migration, extracellular matrix deposition, and decreased scarring and fibrosis. Additionally, hair follicles and accompanying sebaceous glands were regenerated to a much greater degree. The other ancestral strains of MRL/MpJ (C3H, C57BL/6, and AKR) do not display this enhanced healing. Bone marrow transplantation showed that the MRL/MpJ healing phenotype did not readily transfer with bone marrow and did remain in the irradiated host tissues. Enhanced healing of cardiac wounds has also been reported in MRL/M ..... For more information please see the full phenotype on the strain data sheet
013252	MRL/MpJ-Npr2^cn-3J/GrsrJ	Cryopreserved - Ready for recovery

013782	MRL/MpJ-aphl/GrsrJ	Cryopreserved - Ready for recovery
	Homozygotes can be identified as early as 7 to 8 days of age when the first coat comes in. The hair growth is sparse and grows in stripes with bald areas between. The areas around the eyes often develop a mild, crusty growth and rash. All four hair types are present. Of two homozygotes tested both display a low cone response by electroretinograph.
000265	MY/HuLeJ	Cryopreserved - Ready for recovery

008223	NOD.C3(B6)-Fasl^gld /LwnJ	Cryopreserved - Ready for recovery
	NOD congenic mice homozygous for the Fasl^gld spontaneous mutation are viable and fertile. The donating investigator reports that homozygous males and females develop lymphadenopathy and systemic autoimmunity beginning at 8 weeks of age, but do not develop diabetes. The Lupus phenotype is accelerated in this strain when compared to the B6-Fasl^gldstrain. This mutant strain may be useful in the studies of apoptosis of lymphocytes, particularly T cells, and in studies of Lupus. In an attempt to offer alleles on well-characterized or multiple genetic backgrounds, alleles are frequently moved to a genetic background different from that on which an allele was first characterized.. It should be noted that the phenotype could vary from that originally described. We will modify the strain description if necessary as published results become available.
004644	NOD.Cg Prkdc^scid-Tg(CSF2)2Ygy Tg(IL3)1Ygy Tg(KITLG)3Ygy/YgyJ	Cryopreserved - Ready for recovery
	Tg(IL3)1Ygy, Tg(CSF2)2Ygy, and Tg(KITLG)3Ygy encode porcine interleukin 3 (IL3), Porcine granulocyte macrophage-colony stimulating factor (CSF2, commonly designated GM-CSF) and soluble Porcine stem cell factor (KITLG, commonly designated sSCF) respectively. All three are individually driven by the human cytomegalovirus promoter. These three transgenes were co-injected and they co-segregate. RT-PCR detects transgenic expression of porcine IL-3, CSF2 and KITLG in bone marrow and spleen in NOD.Cg Prkdc^scid-Tg(IL3)1Ygy Tg(CSF2)2Ygy Tg(KITLG)3Ygy mice. Porcine IL3, CSF2, and KITLG are present in the serum of these mice in levels that can be detected by ELISA. NOD.Cg Prkdc ^scid-Tg(IL3)1Ygy Tg(CSF2)2Ygy Tg(KITLG)3Ygy/YgyJ not only provide a system in which long-term porcine tissue and stem cell engraftment can be achieved (Abe et al, 2002) but also is a useful tool for evaluating donor-specific tolerance induction by mixed chimerism across xenogeneic ba ..... For more information please see the full phenotype on the strain data sheet
005345	NOD.Cg-Cd38^tm1Lnd Prkdc^scid/LtJ	Cryopreserved - Ready for recovery
	CD38 is an ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase. This ubiquitously expressed ectoenzyme is the major NAD hydrolase in mice. NOD/Lt mice homozygous for the Cd38^tm1Lnd targeted allele develop accelerated Type 1 diabetes associated with an ART2 (T cell ADP-ribosyltransferase)-dependent and NAD-mediated loss of regulatory CD4+CD25+ Foxp3+ and CD4+iNKT cells (Chen, J. et al 2006; Chen, Y.G et al 2006). Combining the Prkdc^scid mutation with the Cd38^tm1Lnd targeted allele completely prevents diabetes development. For investigators wishing to study the role of CD38 in beta cell biology, the presence of the Prkdc^scid allele provides insultis-free islets for analysis. Congenic, doubly homozygous NOD.Cd38^tm1Lnd Prkdc^scid mutant mice exhibit no significant difference in glucose tolerance when compared to NOD or NOD. Prkdc^scid, thus not suppor ..... For more information please see the full phenotype on the strain data sheet
006775	NOD.Cg-Foxp3^sf/DoiJ	Cryopreserved - Ready for recovery
	Scurfy mice develop an X-linked lymphoproliferative disease resulting from defective T cell tolerance. By 3 weeks of age, Foxp3-deficient NOD mice suffer massive lymphoproliferation and inflammatory infiltration in lungs, liver, skin, pancreas, kidneys, stomach, colon, fat and muscles and die by three weeks of age. At 14 days of age, NOD.Foxp3-deficient mice developed exocrine pancreatitis and occasional peri-insulitis; however invasive insulitis and diabetes were not observed. In a NOD.Foxp3-deficient, BDC2.5 TCR transgenic model, mice experienced markedly decreased lymphoproliferation, yet 100% were diabetic by 20 days of age. This congenic NOD scurfy model is useful to study the role of Foxp3-dependent regulatory T cells on diabetes development.
006935	NOD.Cg-H2^b thnh/J	Cryopreserved - Ready for recovery
	Thin hair homozygotes have a sparse coat discernible by two weeks of age. By three weeks of age the pelt has fewer zigzag hairs than normal and by four weeks of age skin follicles are somewhat dilated with degeneration of the deepest portions of the anagen hair follicles. Hair fragments from degenerating follicles are found in the connective tissue and granulomatous inflammation develops.
004230	NOD.Cg-Prkdc^scid Tg(Ins2-E3)1Dvs/DvsJ	Cryopreserved - Ready for recovery

003843	NOD.Cg-Prkdc^scid Tg(Ins2-GAD2)1Lt/LtJ	Cryopreserved - Ready for recovery
	NOD.Cg-Prkdc^scid Tg(Ins2-GAD2)1Lt/LtJ transgenic mice are viable, fertile, normal in size, and do not display any gross physical or behavioral abnormalities. Transgenic mice are homozygous for Prkdc^scid and are free of potential insulitic lymphocytes resulting in diabetes resistance. Similar to the NOD/Lt-Tg(Ins2-GAD2)1Lt (Stock No. 003074) the transgene inserted into Chromosome Y, thus only males are transgenic (Bridgett et al, Diabetes 1998 47:1848-56). This model provides a tool for studying the role of GAD2 as a islet autoantigen in the NOD mouse model of Type 1 diabetes.
003844	NOD.Cg-Prkdc^scid Tg(Ins2-GAD2)2Lt/LtJ	Cryopreserved - Ready for recovery
	NOD.Cg-Prkdc^scid Tg(Ins2-GAD2)2Lt/LtJ transgenic mice are viable, fertile, normal in size, and do not display any gross physical or behavioral abnormalities. Transgenic mice are homozygous for Prkdc^scid and are free of potential insulitic lymphocytes resulting in diabetes resistance. Delayed diabetes onset is observed when splenic lymphocytes from 5 week old pre-diabetic NOD females are adoptively transferred into NOD transgenic mice homozygote for Prkdc^scid when compared to adoptive transfers into control NOD females. Similar to the NOD/ShiLt(Cg)-Tg(Ins2-GAD2)2Lt/J (Stock No. 005870) homozygous transgenic mice are developmentally lethal due to the transgene insertion site (Bridgett et al, Diabetes 1998 47:1848-56). This model provides a tool for studying the role of GAD2 as an islet autoantigen in the NOD mouse model of Type 1 diabetes.
016148	NOD.Cg-Prkdc^scid Alox15^tm1Fun/NadlJ	Cryopreserved - Ready for recovery
	Mice homozygous for Alox15^tm1Fun and Prkdc^scid, commonly referred to as NOD.scid12LOKO, are viable and fertile. NOD.scid12LOKO mice injected with NOD/ShiLtJ, Stock No. 001976, splenocytes do not develop diabetes. This strain may be useful in adoptive transfer studies.
006605	NOD.Cg-Prkdc^scid Emv30^b Tg(HLA-A/H2-D/B2M)1Dvs/DvsJ	Cryopreserved - Ready for recovery
	Although NOD mice that carry this transgene (Stock No. 006604) develop diabetes significantly earlier than do NOD/ShiLtDvs (NOD) controls, this transgenic strain harbors the Prkdc^scid mutation (characterized by an absence of functional T cells and B cells), and therefore does not become diabetic. This strain is useful for adoptive transfer experiments, and as a source of insulitis free pancreatic islets.
005053	NOD.Cg-Prkdc^scid Gusb^mps/SndsJ	Cryopreserved - Ready for recovery
	Mice homozygous for the mps allele exhibit skeletal dysplasia as well as cognitive, hearing and visual deficits. Lifespan of the homozygotes is approximately six months. Homozygotes lack the lysomal enzyme, beta-glucoronidase, and, as a result, glycosaminoglycans accumulate in tissues throughout the body. This strain is a model for the human lysomal storage disease, mucopolysaccharidosis type VII. On the NOD-Prkdc^scid background, this strain can be used for xenotransplantation experiments and cell trafficking studies (Hofling et al., 2003).
005589	NOD.Cg-Prkdc^scid H2-Ab1^tm1Doi/SzJ	Cryopreserved - Ready for recovery
	These mice have no MHC class II expression which makes them useful to facilitate the engraftment of human immune cells.
006609	NOD.Cg-Prkdc^scid Tg(HLA-A2.1)1Enge/DvsJ	Cryopreserved - Ready for recovery
	Although transgenic NOD mice develop diabetes significantly earlier than do NOD/ShiLtDvs (NOD) mice, this transgenic strain harbors the Prkdc^scid mutation (characterized by an absence of functional T cells and B cells) and therefore does not become diabetic. This strain is useful for adoptive transfer experiments and as a source of insulitis free pancreatic islets.
007840	NOD.Cg-Prkdc^scid Tg(Ins2-CD86)12B70Flv/FswJ	Cryopreserved - Ready for recovery
	Tg(Ins2-CD86)12B7 mice homozygous for the Prkdc^scid mutation are viable, fertile, normal in size, and do not display any gross physical or behavioral abnormalities. Transgenic mice express the human CD86 T cell co-stimulatory protein under the control of the rat insulin promoter (Ins2). RT-PCR analysis detects human CD86 mRNA expression in the pancreas. Very low expression levels are also detected in the kidney and thymus of some but not all transgenic mice. Immunohistochemistry indicates that transgenic CD86 protein expression is restricted to the Islets of Langerhans. Transgenic, Prkdc^scid homozygous mice lack functional T cells and B cells, and do not become diabetic. In the absence of the Prkdc^scid mutation, NOD-Tg(Ins2-CD86), transgenic mice experience accelerated diabetes. Diabetes onset in male and female transgenic NOD-Tg(Ins2-CD86) mice starts at 8 weeks of age and 85-90% of the mice ultimately become d ..... For more information please see the full phenotype on the strain data sheet
004519	NOD.MRL(C3)-Fas^lpr/DoiJ	Cryopreserved - Ready for recovery
	NOD mice homozygous for the Tnfrsf6^lpr mutation are deficient in Fas antigen expressed on cell surfaces, and the disruption of the Fas-mediated apoptotic pathway results in severe lymphoma in NOD by 4 months of age. This lymphoma is characterized by an expansion of unusual CD4^-, CD8^-, CD3^low, B220⁺ lymphocytes. Forty week-old NOD mice homozygous for the Tnfrsf6^lpr mutation are completely protected from spontaneous diabetes and insulitis (as compared to 68% diabetes incidence in the control NOD), even after adoptive transfer of lymphocytes from diabetic NOD mice (0% diabetes incidence 12 weeks post transfer, as compared to NOD controls with 85% incidence 12 weeks post transfer). Recent evidence indicates that Fas-deficient NOD mice are resistant to the adoptive transfer because the abnormal subset of CD4^-, CD8^-, CD3^low, B220⁺ lymphocytes ..... For more information please see the full phenotype on the strain data sheet
004922	NOD.MRL-Fas^lpr/Dvs	Cryopreserved - Ready for recovery

004774	NOD/ShiLtJ-wly/J	Cryopreserved - Ready for recovery
	Mice develop curly hair by 4 weeks of age; whiskers are normal (straight). Giant hair follicles in anagen and a paucity of subdermal fat were found in histology of the skin at 5 weeks of age.
010809	NOD/ShiLtJ-mt^FVB/NJ/IbraJ	Cryopreserved - Ready for recovery
	This strain is one of several conplastic strains created to investigate mitochondrial DNA variations on complex traits. The FVB/NJ strain carries an aspartic acid to tyrosine substitution in the mitochondrial mt-Atp8 gene. On the NOD/ShiLtJ background, this conplastic strain exhibits a higher incidence of diabetes.
002345	NXSMC/Ei-Dct^slt-2J/J	Cryopreserved - Ready for recovery

001981	O20/A-Prph2^Rd2/J	Cryopreserved - Ready for recovery

000266	RHJ/Le	Cryopreserved - Ready for recovery
	Rhino mice have spleen cells with a defective response to T-dependent antigens and they develop an autoimmune disease characterized by hypergammaglobulinemia, immunoglobulin deposits in basement membrane of skin, spleen, liver, and kidney, and presence of antinuclear antibodies which occur in young mice and increase with age. These mice have increased numbers of Thy1 positive epidermal dendritic cells. Like homozygous hairless mice, rhino mice are hairless by 5 weeks and their skin becomes wrinkled and thickened.
005415	RHJ/LeJ-stpm/GrsrJ	Cryopreserved - Ready for recovery
	The phenotype of this mutation can be identified by a curly coat, which is different from the smooth coat of control littermates. At 3 weeks of age, mice homozygous for this new mutation have very curly coats and slightly curved vibrissae. In several weeks time the curly coat disappears but the hair retains a rough texture, and the vibrissae then appear normal. Heterozygous mice have normal smooth coats and straight whiskers.
000267	ROP/GnLeJ	Cryopreserved - Ready for recovery
	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 l ..... For more information please see the full phenotype on the strain data sheet
000268	RSV/LeJ	Cryopreserved - Ready for recovery
	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 phenotype on the strain data sheet
000269	SB/LeJ	Cryopreserved - Ready for recovery
	The SB/Le inbred strain is homozygous for both the satin (Foxq1^sa) and beige (Lyst^bg) mutations. Most of the immunological phenotype is due to the beige mutation. Homozygous mutant beige mice are characterized by a condition that closely resembles Chediak-Higashi disease in man and similar conditions in mink and cattle. Abnormal giant lysosomal granules occur in all tissues with granule-containing cells, including granulocytes, lymphocytes, cells of the liver, kidney, central nervous system, pancreas, and thyroid, and the ducts of most glands; in type II pneumocytes; in mast cells; and in retinal pigment epithelium. Granulocytes from beige mice show defective chemotaxis and reduced bactericidal activity. Beige mice are more susceptible than controls to pneumonitis and to various viral, bacterial, and parasitic infections. They have a severe deficiency of natural killer (NK) cells. Beige mice also have a defective cytotoxic T-cell and cytotoxic antibo ..... For more information please see the full phenotype on the strain data sheet
010968	SB;C3Sn-Lrp4^mdig-2J/GrsrJ	Cryopreserved - Ready for recovery
	Mice homozygous for the Lrp4^mdig-2J mutation have toes missing from each foot, have a coarse tail, and some, but not all, have one or two extra upper incisors.
000270	SEC/1GnLeJ	Cryopreserved - Ready for recovery

000271	SH1/LeJ	Cryopreserved - Ready for recovery
	Mice homozygous for the shaker 1 spontaneous mutation (Myo7a^sh1) show circling, head-tossing, deafness, and hyperactivity characteristic of this type of mutant mice. Viability is normal, and breeding ability is high for a circling mutant. Homozygous mutant mice are most often deaf and swim well on the surface of water up to 4 weeks of age and more but lose the ability later. The degenerative changes of the labyrinth may occur a little later than in some of the other waltzing mutants. By light microscopy, the changes are seen to consist of degeneration of the organ of Corti, the spiral ganglion, and the stria vascularis in the cochlea, and of the saccular macula and the vestibular ganglion in the vestibular labyrinth.
000622	SHR/GnEiJ	Cryopreserved - Ready for recovery

001910	SJL/J-Crm^2J/J	Cryopreserved - Ready for recovery

003011	SJL/J-Slc9a1^swe/J	Cryopreserved - Ready for recovery
	Mice homozygous for the slow wave epilepsy spontaneous mutation (Slc9a1^swe, formerly Nhe1) display locomomotor ataxia recognizeable at 11-14 days of age. Younger homozygous mutant mice have a unique seizure phenotype characterized by frequent bursts of 3/sec generalized spike-wave activity and behavioral arrest. They also have rare, generalized, tonic-clonic seizures which usually result in death. This seizure phenotype is similar to common human absence epilepsies. There is also neuronal cell death in the cerebellum and brainstem.
002335	SKH2/J	Cryopreserved - Ready for recovery
	Mice homozygous for the hr spontaneous mutation have a higher incidence and earlier onset of leukemia, reducible by virus-specific antibody. Deficiency of splenic T helper cells (Ly-1+) may account for low cellular immune response of homozygous mutant mice. The coat is normal on hr/hr mice up to 10 days but then hair is lost from the follicle. Waves of hair growth with few thin fuzzy hairs ocur at monthly intervals for some time but homozygotes eventually become continuously hairless. Vibrissae are repeatedly regrown and shed, becoming more abnormal with age. Toenails are long and curved. There is hyperkeratosis of stratified epithelium and the upper part of hair canals beginning at 14 days. Hair club formation is abnormal. Cysts form from the hyperkeratotic upper part of hair canals and sheaths of abnormal follicles stranded in dermis. Some cysts also form from sebaceous glands. All cysts undergo sebaceous transformation and later keratinization. Black juvenile hair coa ..... For more information please see the full phenotype on the strain data sheet
000264	SM/Ckc-Fbxw4^Dac/J	Cryopreserved - Ready for recovery

000308	SSL/LeJ	Cryopreserved - Ready for recovery
	This inbred strain carries both the piebald (Ednrb^s) and piebald lethal (Ednrb^s-l) alleles. Homozygous piebald mice show irregular white spotting, the amount of which is greatly influenced by minor modifying genes. They also have dark eyes. Homozygous piebald lethal mice are almost completely white with dark eyes and only an occasional small pigmented spot on the head or rump. Piebald-piebald lethal heterozygotes (Ednrb^s/Ednrb^s-l) mice resemble piebald mice in the degree of spotting. The piebald mutations disrupt the development of melanocytes derived from the neural crest. All piebald lethal homozygotes develop megacolon with a lack of enteric ganglion cells in the posterior end of the colon. On the SSL/Le background, although many Ednrb^s-l homozygotes die between 2 and 4 weeks of age, significant numbers survive and may breed. The incidence of megacolon is reduced in piebald and piebald-piebald lethal ..... For more information please see the full phenotype on the strain data sheet
010522	STOCK Acan^cmd/NKruJ	Cryopreserved - Ready for recovery
	Mice that are homozygous for this spontaneous mutation die just after birth from an in ability to breathe. Newborns exhibit cleft palate, a protruding tongue, bulging abdomen, enlarged liver and a shortened trunk, limbs, snout and tail. Long bones measure half the length of wild-type mice and the spinal column is reduced by 25%. Cartilage in homozygous mice consists of densely packed chrondocytes, little matrix, pycnotic cells and unusual amounts of collagen fibers. Mice that are heterozygous for the mutation appear normal at birth, but develop proportional dwarfism by 28 days. Aging mice exhibit spinal misalignment and degeneration followed by the sudden onset of a spastic gait and an accompanying decrease in movement. Mice die within one month following the appearance of the abnormal gait. Heterozygotes do not live beyond 19 months. This mutant mouse strain may be useful in studies of achondroplasia, disc herniation and spinal degeneration.
002130	STOCK Agps^bs2/J	Cryopreserved - Ready for recovery
	Mice homozygous for the blind-sterile 2 mutation display nuclear cataracts, microphthalmia, smaller than normal lens with improper differentiation of lens epithelial cells to fiber cells with vacuolation, morganian globules, bladder cells and detachment of the apical-apical junctions of epithelial and fiber cells, although the lens epithelial cells appear normal at the anterior of the lens. Males have abnormally small testes with disrupted seminiferous tubules lacking mature spermatozoa or elongating spermatids. Although male homozygotes are sterile, female homozygotes are not.
008626	STOCK Cacnb4^lh-2J/LetJ	Cryopreserved - Ready for recovery
	Mice homozygous for the spontaneous mutation lethargic 2J have a similar phenotype to lethargic mice (See 000504). They exhibit lethargic behavior with gait instability and the occasional seizure. The molecular mutation is unknown, however, no CACNB4 protein product is detected by Western blot.
003118	STOCK Ces1c^e Foxn1^nu/J	Cryopreserved - Ready for recovery
	Mice homozygous for Ces1c^e are viable and fertile and exhibit no apparent defect. Ces1c^e was discovered in a screen of progeny of triethylenemelamine (TEM) treated male mice for mutations at specific loci, but appears to have pre-existed in the male. The screen employed analysis of blood and kidney homogenates by "standard starch gel electrophoresis techniques" and focused on enzymes known to differ in electrophoretic mobility between the parental strains (DBA/2J and C57BL/6J). Ces1c^e was initially thought to be a null allele, but characterization of homozygous F2 mice demonstrated presence of a faint band migrating between those of the parental strains, which was not perceived in the presence of either parental band. Thus, Ces1c^e was shown to be a hypomorphic electrophoretic variant (Soares 1979). The two main defects of mice homozygous for the nude spontaneous mutation (Foxn1^nu, formerly <> ..... For more information please see the full phenotype on the strain data sheet
002974	STOCK Ces1c^e H2^d/J	Cryopreserved - Ready for recovery
	Mice homozygous for Ces1c^e are viable and fertile and exhibit no apparent defect. Ces1c^e was discovered in a screen of progeny of triethylenemelamine (TEM) treated male mice for mutations at specific loci, but appears to have pre-existed in the male. The screen employed analysis of blood and kidney homogenates by "standard starch gel electrophoresis techniques" and focused on enzymes known to differ in electrophoretic mobility between the parental strains (DBA/2J and C57BL/6J). Ces1c^e was initially thought to be a null allele, but characterization of homozygous F2 mice demonstrated presence of a faint band migrating between those of the parental strains, which was not perceived in the presence of either parental band. Thus, Ces1c^e was shown to be a hypomorphic electrophoretic variant (Soares 1979).
000306	STOCK Dll3^pu + Tyr^c-ch/+ Oca2^p Tyr^c-ch/J	Cryopreserved - Ready for recovery

003112	STOCK Eda^Ta-5J/J	Cryopreserved - Ready for recovery

001813	STOCK Grhl3^ct/J	Cryopreserved - Ready for recovery

001880	STOCK Gusb^mps Tg(GUSB)4Sly/BirJ	Cryopreserved - Ready for recovery

000006	STOCK Hk Tyr^c/J	Cryopreserved - Ready for recovery
	While mice carrying the Hk mutation often have a hooked curl at the end of a shortened tail, this mutation may more consistently result in a displaced anus that is positioned posterior to the normal site and is more slit-shaped than circular. In some instances the anus has been located in the beginning of the tail and a depression was found to extend partway down the ventral side of the tail (Holman, 1951). The Hk mutation is semidominant with homozygotes often showing a shorter, more affected tail than heterozygotes (P.W. Lane Personal Communication).
006846	STOCK Lepr^db-9J/Jgn	Cryopreserved - Ready for recovery
	Mice homozygous for this mutation exhibit moderate obesity and extreme diabetes. The primary investigator reports blood glucose levels reaching 600-850 mg/ml and low plasma insulin levels (1-4 ng/ml). Pancreatic beta cells are small, degranulated and atrophic. The liver is steatotic and strongly PAS-positive for glycogen. Adrenal glands are large with a hyperplastic zona reticularis and appear to be missing the medulla. Homozygous females have fewer primary oocytes and follicles, as well as a decreased amount of developing and ovulated follices. Fecundity is decreased resulting in smaller litter sizes and fewer litters.
000020	STOCK Noto^tc/J	Cryopreserved - Ready for recovery

001584	STOCK Oca2^p-J/Oca2^p-bs/J	Cryopreserved - Ready for recovery
	Oca2^p-J/Oca2^p-J mice exhibit significant dilution of coat color with pink eyes, a phenotype similar to that produced by Oca2^p/Oca2^p. The Oca2^p-J mutation is a partial deletion of the gene that completely ablates Oca2^p function (Oakey et al. 1996). Oca2^p-bs/Oca2^p-bs mice show a less extreme coat color dilution and have black eyes from birth; the phenotype of Oca2^p-bs homozygotes also includes stunted growth, jerky gait, male sterility, female semisterility, and impaired maternal behavior, and the smaller-than-expected proportion of Oca2^p-bs homozygous intercross offspring implies reduced prenatal viability (Lyon et al. 1992). The Oca2^p-bs mutation comprises a deletion that begins about 10 kb 5' of the Oca2^p locus and extends for about 8 kb in the proximal direc ..... For more information please see the full phenotype on the strain data sheet
006128	STOCK Otof^deaf5Jcs/Kjn	Cryopreserved - Ready for recovery

000942	STOCK Pitx3^ak/2J	Cryopreserved - Ready for recovery
	Mice homozygous for the Pitx3^ak mutation exhibit microphthalmia (small eyes) and aphakia (no lens) related to arrested lens development. The mesencephalic dopamine system is malformed and as a result homozygotes fail to develop dopaminergic neurons of the substantia nigra (Smidt et al., 2004). Homozygotes display sensorimotor deficits specific to the nigrostriatal pathway such as the challenge beam and pole test and the test for spontaneous exploratory activitiy in a cylinder. These deficits can be reversed by L-DOPA administration (Hwang et al., 2005). This mutant mouse strain may be useful in studies of Parkinson's disease.
010605	STOCK Prkdc^scid Gnrh1^hpg/BmJ	Cryopreserved - Ready for recovery
	Mice homozygous for the severe combined immune deficiency spontaneous mutation (Prkdc^scid, commonly referred to as scid) are characterized by an absence of functional T cells and B cells, lymphopenia, hypogammaglobulinemia, and a normal hematopoietic microenvironment. Normal antigen-presenting cell, myeloid and NK cell functions are strain dependent. scid mice carry a DNA repair defect and a defect in the rearrangement of genes that code for antigen-specific receptors on lymphocytes. Most homozygotes have no detectable IgM, IgG1, IgG2a, IgG2b, IgG3, or IgA. Thymus, lymph nodes, and splenic follicles are virtually devoid of lymphocytes. scid mice accept allogeneic and xenogeneic grafts making them an ideal model for cell transfer experiments. Some scid mice will spontaneously develop partial immune reactivity. scid mice that have serum Ig levels greater than 1 ug/ml are considered "leaky." scid leakiness is highly strain depen ..... For more information please see the full phenotype on the strain data sheet
006135	STOCK Sgk3^fz-ica/McirJ	Cryopreserved - Ready for recovery

001814	STOCK T^c/J	Cryopreserved - Ready for recovery

002549	STOCK Tg^cog/J	Cryopreserved - Ready for recovery
	The Tgn^cog mutation causes the development of goiters due to failed processing of thyroglobulin. Homozygotes are smaller in overall size by 15 days of age. They have an increase in growth rate at the time of weaning but generally do not attain comparable size with their wildtype littermates. Increased thyroidal volume is apparent at embryonic day 18 and continues enlarging to an average of 5 fold higher than normal at 8 weeks of age and 20 fold normal at 10 months of age. In addition to decreased serum T3 and T4 levels, homozygotes have increased serum thyroid stimulating hormone levels, reduced levels of serum IGFBP-3, IGFBP-4, and IGFBP-2, mild anemia, and hypomyelination restricted to the cerebrum. Tgn^cog is an outwardly recessive mutation but microdissection reveals a heterozygous phenotype as well. Thyrofollicular cells of heterozygotes have swollen protein-containing vesicles similar to but more moderate than those found in homozygotes. ..... For more information please see the full phenotype on the strain data sheet
003818	STOCK bdd/J	Cryopreserved - Ready for recovery
	At 3 weeks of age homozygotes are smaller than their unaffected littermates and have horseshoe shaped hips. A paralysis-like dragging of the hind limbs appears with age and by 1 year of age prolapsed discs are found in the spinal cord although no muscle loss or neurological damage is found in the legs.
003148	STOCK chky/J	Cryopreserved - Ready for recovery
	Mice homozygous for the chick yellow mutation on an albino background have a pale yellow coat color evident by approximately 10 days of age when the first coat of hair comes in. Cataracts, lens extrusion, and retinal degeneration develop. Independent of the chick yellow mutation, mice of this background, which is an inbred of an ICR outbred population, may develop polydipsia with age.
001985	STOCK eyl2/J	Cryopreserved - Ready for recovery
	80% of mice homozygous for the eyeless 2 Jackson mutation were reported to have anophthalmia, and those with intact globes have microphthalmia and are often found to have congenital corneal perforations and collapse of the anterior chamber (Chang et al., 2005).
013132	STOCK slck/GrsrJ	Cryopreserved - Ready for recovery
	Mice homozygous for the slick hair mutation can be identified by 3 weeks of age by a disheveled coat, which is less evident by 5 weeks of age.
005040	STOCK Tg(Pfkl)224Yg/J-Dll3^pu-J/GrsrJ	Cryopreserved - Ready for recovery
	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.
004184	STOCK Tg(Wap-HRAS)69Lln Chr Y^SJL-Edaradd^cr-3J/J	Cryopreserved - Ready for recovery

000939	SWR/J-Clcn1^adr-mto/J	Cryopreserved - Ready for recovery
	Mice homozygous for the myotonia spontaneous mutations exhibit classical myotonia similar to that described in human myotonic diseases. Homozygotes are recognizable at 2 weeks of age or earlier by prolonged, stiff extension postures of the limbs when the cage is shaken or the mouse is dropped from about 10 cm. This behavior persists throughout life. When undisturbed, affected animals walk almost normally, although somewhat stiffly. They grow more slowly and weigh about 40% less than controls in adulthood. Electromyographic studies revealed changes characteristic of myotonia. These discharges do not originate in peripheral nerves, and there is no evidence of muscle fiber necrosis.
001075	SWXJ5/BmJ	Cryopreserved - Ready for recovery

000623	TR/DiEiJ	Cryopreserved - Ready for recovery

000275	V/LeJ	Cryopreserved - Ready for recovery
	This strain was originally used as a linkage stock for gene mapping. It is homozygous for several visible recessive mutations all located on different chromosomes including nonagouti (a), fuzzy (fz), leaden (Mlph^ln), and piebald (Ednrb^s) and is segregating for the neurological mutation, waltzer (Cdh23^v). Homozygous waltzer mice show the circling, head-tossing, deafness, and hyperactivity typical of the circling mutants. Abnormalities of the inner ear include degeneration of the organ of Corti, spiral ganglion, stria vascularis, and saccular macula. Homozygous piebald mice show irregular white spotting, the amount of which is greatly influenced by minor modifying genes. Homozygous piebald mice have dark eyes. The white areas of the coat are completely lacking in melanocytes and there is a reduction in the number of melanocytes in the choroid layer of the eye.
000454	WB.C3-Spna1^sph/BrkJ	Cryopreserved - Ready for recovery
	Homozygotes have spherocytic hemolytic anemia and neonatal jaundice. Erythrocytes have diminished biconcavity, a smaller than normal diameter, increased density, an appearance of exovesiculation, and a short lifespan. At birth homozygotes are very pale then become yellow during the first few hours of life and die generally within a day of being born. Although it is rare for a spherocytosis homozygote to survive beyond one day of birth on the WB/Re or C57BL/6J (stock #000450) congenic background, homozygotes on the (C57BL/6J x WB/Re)F1 background are much more robust and the majority survive to adulthood. Those that make it to wean age are expected to have a reasonable lifespan, sometimes living as long as a year. Thus, most studies of this mutation in the adult have been done on the (C57BL/6J x WB/Re)F1 background. These homozygotes display diminished hematocrit, decreased red blood cell count, very elevated red blood cell protoporphyrin levels, increased eryth

JAX® Mice Strains

JAX^® Mice Strains