JAX Mice Database - Internal/Organ Research

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New Strains Awaiting Transfer from the Donor
Additional Register Interest Strains

JAX^® Mice Strains

Stock Number	Strain Name Strain Description	Standard Supply
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
001976	NOD/ShiLtJ	Level 1
	Diabetes in NOD/ShiLtJ mice is characterized by insulitis, a leukocytic infiltrate of the pancreatic islets. Marked decreases in pancreatic insulin content occur in females at about 12 weeks of age and several weeks later in males. Onset of diabetes is marked by moderate glycosuria and by a non-fasting plasma glucose higher than 250 mg/dl. Diabetic mice are hypoinsulinemic and hyperglucagonemic, indicating a selective destruction of pancreatic islet beta cells. Susceptibility to IDDM in NOD/ShiLtJ mice is polygenic, and environment, including housing conditions, health status, and diet, exerts a strong effect on penetrance. NOD/ShiLtJ females are more widely used than males because the onset of IDDM symptoms occurs earlier and with a higher incidence (90-100% by 30 weeks of age). NOD/ShiLtJ males develop IDDM at a frequency of between 40-60% by 30-40 weeks of age. Male mice are useful for certain applications, including pharmaceutical studies, "accelerated transfer" of IDDM, and some <> ..... For more information please see the full phenotype on the strain data sheet
000646	A/J	Level 2
	Developed by LC Strong in 1921 from a cross between a Cold Spring Harbor albino and a Bagg albino, the A/J inbred strain is widely used in cancer and immunology research. It is highly susceptible to cortisone-induced congenital cleft palate. It has a high incidence of spontaneous lung adenomas, and lung tumors readily develop in response to carcinogens. A high percentage of mammary adenocarcinomas (a large proportion of acinar-type) develop in multiparous females. Rare spontaneous myoepitheliomas arising from myoepithelial cells of various exocrine glands have been observed in The Jackson Laboratory substrains. A/J mice fed an atherogenic diet (1.25% cholesterol, 0.5% cholic acid, and 15% fat) fail to develop atherosclerotic aortic lesions in contrast to several highly susceptible strains of mice (e.g. C57BL/6J, Stock No. 000664; C57L/J, Stock No. 000668, C57BR/cdJ, ..... For more information please see the full phenotype on the strain data sheet
002216	B6.129S7-Rag1^tm1Mom/J	Level 2
	Mice homozygous for the Rag1^tm1Mom mutation produce no mature T cells or B cells. Their phenotype can be described as a "non-leaky" severe combined immune deficiency (Prkdc^scid/Prkdc^scid) (Prkdc^scid mice produce some B cells and IgM). They have no CD3⁺ or T cell receptor (TCR) alpha-beta positive cells. The thymus of the mutant mice contains 15 to 130 times fewer cells than heterozygous or wildtype siblings. The thymocytes are CD8^-CD4^- and most are IL2 receptor-positive. Neither the spleen nor the bone marrow contain any IgM or IgD staining cells, indicating an absence of mature B cells. These and other data suggest that B cell and T cell development has been arrested at an early stage. Macroscopically, the mutants are indistinguishable from heterozygotes or normal wildtype siblings.
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
000656	CBA/J	Level 2
	CBA/J inbred mice are widely used as a general purpose strain. CBA/J strain is the only CBA substrain that carries the Pde6b^rd1 mutation, which causes blindness by wean age. CBA/J mice are not histocompatible with the CBA/CaJ (Stock No. 000654) substrain (Green and Kaufer, 1965). The CBA/J inbred mouse strain is used to study granulomatous experimental autoimmune thyroiditis (G-EAT), are relatively resistant to diet-induced atherosclerosis (Paigen et al. 1990), and develop a mild hearing loss late in life, with most of the hearing loss occurring in the higher frequencies (Sweet et al. 1988). Renal tubulointerstitial lesions have been observed in this strain at a high frequency (Rudofsky 1978). Some CBA/J mice spontaneously develop exocrine pancreatic insufficiency syndrome (Eppig and Leiter 1977, Leiter et al. 1977).
001803	CBySmn.CB17-Prkdc^scid/J	Level 2
	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
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
000648	AKR/J	Level 3
	Originally inbred at the Rockefeller Institute, AKR mice are widely used in cancer research for their high leukemia incidence (60-90%) and in immunology as a source of the Thy1.1 (theta AKR) antigen. AKR/J mice are viremic from birth, and express the ecotropic retrovirus AKV in all tissues. The hair interior defect (hid) mutation, a strain characteristic of AKR mice, causes alterations in hair development that is only evident microscopically. Adrenocortical lipid depletion (ald) in AKR mice is caused by a mutation in sterol O-acyltransferase 1 (Soat1), and leads to a truncated SOAT1 protein. AKR/J mice are relatively resistant to aortic lesion formation on a semi-synthetic high fat diet and are hyporesponsive to diets containing high levels of fat and cholesterol.
002650	B6.129S2-Il6^tm1Kopf/J	Level 3
	Mice homozygous for the targeted mutation are viable and fertile. No gene product (mRNA) is detected by RT-PCR analysis of lipopolysaccharide (LPS) challenged macrophages. Bioassay and enzyme-linked immunosorbent assay (ELISA) analysis of serum from LPS-challenged homozygotes reveals no detectable protein activity. These interleukin 6 (IL6) mutant mice show defects in responses to various viruses and in inflammatory responses to tissue damage or infection. Of note, IL6-mutant mice may be available on different genetic backgrounds including mixed B6;129S2 (Stock No. 002254), C57BL/6J (Stock No. 002650), and BALB/cByJ.
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
002468	KK.Cg-A^y/J	Level 3
	A^y and other mutations at the a locus conferring a completely yellow coat color are dominant to all a alleles that produce a darker coat. Hair pigment of A^y heterozygotes is yellow, but eyes are black. Heterozygotes usually become obese and infertile within a few months after birth. Increased adipose tissue mass is due to fat cell hypertrophy, and it has been hypothesized that the obesity results from the observed reduction in hypothalamic norepinephrine and dopamine. Heterozygotes are more susceptible to several kinds of tumors than are normal mice, possibly due, at least in part, to a general increase in cell proliferation that also manifests as a slight increase in lean body mass and skeletal length. Further spleen cells from heterozygotes cause a significantly lower graft vs. host reaction. Mice homozygous for the yellow spontaneous mutation (A^y) die before implantation, or shortly thereafter. The time of death and ..... For more information please see the full phenotype on the strain data sheet
007799	NOD.Cg-Rag1^tm1Mom Il2rg^tm1Wjl/SzJ	Level 3
	Females homozygous for both the Rag1^null and IL2rγ^null mutations (and males homozygous for Rag1^null and hemizygous for the X-linked IL2rγ^null mutation) are viable and fertile. When compared to NOD-scid IL2rg^null (Stock No. 005557), these NOD-Rag1^null IL2rγ^null mice tolerate much higher levels of irradiation conditioning. Additionally, NOD-Rag1^null IL2rγ^null mice support higher levels of both human cord blood stem cell engraftment following irradiation-conditioning (leading to multi-lineage hematopoietic cell populations and a complete repertoire of human immune cells, including human T cells) and human peripheral blood mononuclear cells engraftment in unconditioned adult mice with respect to NOD-Rag1^null (Stock No. 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
002087	B6.129P2-B2m^tm1Unc/J	Level 4
	Mice homozygous for the B2m^tm1Unc targeted mutation have little if any MHC class I protein expression on the cell surface. There are few CD8⁺ cytotoxic T-cells and under some circumstances a compensatory increase in CD4⁺ cytotoxic T-cells. Immune responses involving CD8⁺ T-cells are severely deficient providing a model to assess the role of CD8⁺ cells and class I MHC in various experimental systems. Hemachromatosis has been noted in certain genetic backgrounds (Rothenberg BE, Voland JR, Proc Natl Acad Sci USA 93:1529-34, 1996). 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 ..... For more information please see the full phenotype on the strain data sheet
002609	B6.129P2-Nos2^tm1Lau/J	Level 4
	Mice homozygous for the Nos2^tm1Lau targeted mutation resemble wildtype mice in appearance and histology. Homozygotes are viable and fertile. Unlike Nos1 and Nos3, Nos2 is synthesized de novo in response to a variety of inflammatory stimuli. Induction of Nos2 results in the production of large amounts of nitric oxide (NO) over prolonged periods of time. Excessive NO production has been shown to be beneficial through its antitumor and antimicrobial activities. It is also thought to cause tissue damage and contribute to pathology in a variety of inflammatory conditions including rheumatoid arthritis, inflammatory bowel disease, cardiac allograft rejection, hepatoxicity, myocardial ischemia-reperfusion and septic shock. NO has been demonstrated to play a role in the regulation of blood pressure and hemodynamics. In an LPS-induced model of septic shock, Nos2^tm1Lau homozygotes had virtually no serum NO response, but were ..... For more information please see the full phenotype on the strain data sheet
002684	B6.129P2-Nos3^tm1Unc/J	Level 4
	Mice homozygous for the Nos3^tm1Unc targeted mutation are viable and fertile. They have elevated blood pressure that is about 20 mmHg higher than that seen in normal wildtype siblings. They also show a decreased heart rate. Female homozygotes are smaller in body weight than normal wildtype siblings. Hyperglycemic-euglycemic clamp studies demonstrate that homozygotes exhibit insulin resistance at the level of the liver and peripheral tissues.
004434	B6.129S4-Ccl2^tm1Rol/J	Level 4
	Mice that are homozygous for the targeted mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. No gene product is detected in lipopolysaccharide (LPS) -stimulated peritoneal macrophages isolated from homozygous mice. The numbers of peritoneal macrophages, Kupffer cell and alveolar macrophages were similar to levels found in wildtype mice. Thioglycollate induced peritonitis results in impaired recruitment of monocytes and macrophages to peritoneal cavity. Cellular recruitment to delayed-type hypersensitivity challenges and secondary granulomata is reduced. This mutant mouse strain represents a model that may be useful in studies related to leukocyte trafficking.
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
003008	B6;129S-Tnf^tm1Gkl/J	Level 4
	Mice homozygous for the Tnf^tm1Gkl targeted mutation are viable and fertile. Development of both lymph nodes and Peyer's patches is normal, and homozygous mutant mice show no apparent phenotypic abnormalities. Homozygous mice completely lack splenic primary B cell follicles and cannot form organized follicular dendritic cell networks and germinal centers. TNF-deficient mice treated to induce skin carcinogenesis develop significantly less benign and malignant tumors than treated wildtype mice. Nonobese homozygous mutant mice show modest decreases in body weight, epididymal fat depot weight, and percent body fat (statistically significant in males at 28 weeks of age). Further characterization indicates that 28 week old male mutant mice display lower insulin, triglyceride, and leptin levels compared to wildtype controls. Characterization of TNF deficient homozygotes injected with gold-thioglucose (GTG) to induce hyperphagic obesity indicates that the presence of TNF does ..... For more information please see the full phenotype on the strain data sheet
003145	C.129S7(B6)-Rag1^tm1Mom/J	Level 4
	Mice homozygous for the Rag1^tm1Mom mutation produce no mature T cells or B cells. Their phenotype can be described as a "non-leaky" severe combined immune deficiency (Prkdc^scid/Prkdc^scid) (Prkdc^scid mice produce some B cells and IgM). They have no CD3⁺ or T cell receptor (TCR) alpha-beta positive cells. The thymus of the mutant mice contains 15 to 130 times fewer cells than heterozygous or wildtype siblings. The thymocytes are CD8^-CD4^- and most are IL-2 receptor positive. Neither the spleen nor bone marrow contain any IgM or IgD staining cells, indicating an absence of mature B cells. These and other data suggest that B cell and T cell development has been arrested at an early stage. Macroscopically, the mutants are indistinguishable from heterozygotes or wildtype siblings.
004326	C3Bir.129P2(B6)-Il10^tm1Cgn/Lt	Level 4
	Mice homozygous for the Il10^tm1Cgn targeted mutation are viable and fertile when housed under specific pathogen free (SPF) conditions. Under conventional housing conditions, Il10-deficiency is associated with altered lymphocyte and myeloid profiles, elevated serum amyloid A levels, altered responses to inflammatory or autoimmune stimuli (both endogenous and induced), increased prevalence of colorectal adenocarcinoma (especially on 129/Sv and, to a lesser extent, BALB/c genetic background), and spontaneous development of chronic enterocolitis (see below). As The Jackson Laboratory Repository maintains these mice at high health status conditions (high SPF), the observed or experimentally-induced Il10-deficient phenotype may vary from that previously published using mice from conventional mouse rooms. These IL-10 mutant mice may be useful studying inflammatory bowel disease (IBD) (Crohn's disease (CD) and/or colitis), cancer, innate and adaptive immunity, a ..... For more information please see the full phenotype on the strain data sheet
001131	C3SnSmn.CB17-Prkdc^scid/J	Level 4
	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 depe ..... For more information please see the full phenotype on the strain data sheet
004104	FVB.Cg-Mmp9^tm1Tvu/J	Level 4
	Mice that are homozygous null for the Mmp9 gene are viable and fertile. No Mmp9 activity is detected in spleen cell lysates. Long bones (tibia, femur) are 10% shorter in homozygous null mice. Histological examination of 3-week-old mice reveals a dramatically lengthened zone of hypertrophic cartilage (6 to 8 times larger vs. wildtype) due to delayed apoptosis, vascularization, and ossification. Subsequent remodeling resolves the condition, resulting in normal appearing bones by 8 weeks of age. Null mice show altered responses to repair of injury in skin, cornea, central nervous system and bone marrow reconstitution, and altered inflammatory responses.
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.
000486	MRL/MpJ	Level 4
	The MRL/MpJ mice are large but docile to the point that males rarely fight. They are the parent and control strain for for MRL/MpJ-Fas^lpr (Stock Nos. 000485, 006825). Despite carrying the normal Fas gene, MRL/MpJ mice also exhibit autoimmune disorders, but symptoms are manifested much later in life compared to those the MRL/MpJ-Fas^lpr mice. Starting at about three months of age, levels of circulating immune complexes rise greatly in the MRL-Fas^lpr mouse but not in the wildtype control, MRL/MpJ. Also beginning at 3 months Fas^lpr mice exhibit very severe poliferative glomerulonephritis, whereas in the MRL/MpJ controls usually only mild glomerular lesions are detected. MRL/MpJ inbred female typically die at 73 weeks of age and males die at 93 weeks. This compares to a lifespan of 17 weeks in the female and 22 weeks for males in the mouse homozygous for Fas^lpr. See MRL/MpJ-Fas^lpr<> ..... For more information please see the full phenotype on the strain data sheet
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
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.
014634	129(B6)-Nr1h2^tm1Djm/J	Repository- Live
	In this strain a neomycin (neo) resistance cassette replaces exons 5-6 of the nuclear receptor subfamily 1, group H, member 2 (Nr1h2) gene, abolishing gene function. Homozygous are viable, fertile, and normal in size. Also known as liver X receptor beta (Lxrβ), Nr1h2 binds to retinoid X receptors (RXRα, RXRβ, RXRγ; NR2B1, NR2B2, and NR2B3) and is activated by oxysterols to regulate the expression of genes involved in cholesterol metabolism. . Homozygous Lxrβ^-/- mice lose their ability to appropriately regulate cholesterol, lipid, and carbohydrate metabolism, and have defects in immune function. These defects are more severe when combined with the knockout of Lxrα (available as Stock No. 013762). These mice may be useful for studying lipid and cholesterol metabolism, and regulation of the immune response.
013762	129-Nr1h3^tm1Djm/J	Repository- Live
	Homozygous Nr1h3 (nuclear receptor subfamily 1, group H, member 3) targeted mutation mice lose their ability to respond normally to dietary cholesterol. Mice maintained on cholesterol diets fail to induce transcription of the Cyp7a1 (cytochrome P450, family 7, subfamily a, polypeptide 1) gene, a rate-limiting enzyme in bile acid synthesis, and fail to induce expression of ABCG5 (ATP-binding cassette, sub-family G (WHITE), member 5) and ABCG8 (ATP-binding cassette, sub-family G (WHITE), member 8), ATP-binding cassette transporters that are required for cholesterol secretion into bile. Large amounts of cholesterol rapidly accumulate in the liver leading to impaired hepatic function. Impaired reverse cholesterol transport from peripheral tissues is also observed. The ability to regulate lipids and carbohydrates is also lost. Defects in innate immune responses by activated macrophages have also been described. Males are not infertile, but show a significantly higher number ..... For more information please see the full phenotype on the strain data sheet
006050	129-Sirt6^tm1Fwa/J	Repository- Live
	Homozygous neonates are smaller than their wildtype and heterozygous littermates. They develop normally until approximately 21 days of age, when they develop an acute and rapid, aging-like degenerative pathology resulting in death by postnatal day 24. Homozygous mutant mice exhibit subcutaneous fat loss, lordokyphosis (hunchbacked spine) with osteopenia (30% loss of bone mineral density), colitis, and severe lymphopenia due to increased lymphocyte apoptosis. At day 12, mice have reduced insulin-like growth factor I (IGF-1) levels in serum, and develop severe hypoglycemia. Mouse embryonic fibroblasts (MEFs) prepared from homozygous embryos exhibit reduced proliferation, defective base excision repair function, as indicated by increased sensitivity to alkylating agents and ionizing radiation, and increased chromosomal aberrations. The donating investigators report that no gene product (mRNA or protein) is detected by RT-PCR or immuoblot analysis of tissues, MEFs or embryonic stem cells f ..... For more information please see the full phenotype on the strain data sheet
013039	129S-Spic^tm1Kmm/J	Repository- Live
	In these mutant mice a loxP-flanked neomycin resistance (neo) cassette replaces exons 2-5 of the Spi-C transcription factor (Spi-1/PU.1 related) gene (Spic), abolishing gene function. Heterozygous mice are viable and fertile, while homozygotes are born at a frequency lower than the expected Mendelian ratio and they have small litters. Spi-C is highly expressed in red pulp macrophages which are a distinct splenic subset required for red blood cell recycling and iron homeostasis. These Spi-C^-/- mice exhibit a defect in the development of red pulp macrophages, which fail to efficiently phagocytose red blood cells trapped in the spleen. They also develop an iron overload localized selectively to splenic red pulp. These mice may be useful for studying the development and function of red pulp macrophages.
016567	129S.Cg-Tg(Hoxb7-rtTA*M2)2Cos/J	Repository- Live
	RS-HTA2 transgenic mice have the homeobox B7 promoter/enhancer sequences driving expression of an optimized form of the reverse tetracycline-controlled transactivator (rtTA*M2) protein. Hemizygotes are viable, fertile, and normal in size. When mated to a second transgenic strain carrying a gene of interest under the regulatory control of a tetracycline-responsive promoter element (tetO), expression of the gene of interest may be regulated by the tetracycline analog, doxycycline (dox). In the presence of dox, transcription of the target gene is induced in cells where rtTA is expressed. When bred to B6;SJL-Tg(tetop-lacZ)2Mam/J mice (Stock No. 002621), adult mice carrying both transgenes, which were maintained on Dox during pre and postnatal life, show strong expression of βgal in the renal collecting duct system, and embryos display strong expression throughout the Wolffian duct, ureteric bud, vas deferens, epididymis ..... For more information please see the full phenotype on the strain data sheet
007853	129S/SvEv-Tg(Alb1-Ren)2Unc/CofJ	Repository- Live
	Mice heterozygous for the RenTgMK transgene are viable and fertile. The RenTgMK transgene contains a liver-specific albumin promoter/enhancer controlling the expression of a synthetic renin gene (engineered to allow efficient cleavage and secretion of the prorenin transgene product by the liver). This, and because the transgene was targeted to the apolipoprotein locus on Chromosome 9, results in active renin secretion from the liver independently of renal or other homeostatic cardiovascular control mechanisms (i.e. genetically clamped). RenTgMK heterozygotes have high ectopic levels of active mouse renin in the liver and elevated plasma levels of prorenin and active renin. Heterozygous mice display significantly elevated blood pressure, enhanced thirst, high urine output, proteinuria, and kidney damage. Because active renin overexpression results in increased circulating levels of angiotensin II (Ang II), heterozygotes also exhibit cardiac hypertrophy and 50% male mortality between 6-8 ..... For more information please see the full phenotype on the strain data sheet
003580	129S4/SvJae-Ppara^tm1Gonz/J	Repository- Live
	Mice homozygous for the Ppara^tm1Gonz targeted mutation are viable, fertile and appear normal in appearance and behavior. An altered response to a group of compounds (peroxisome proliferators) that induce peroxisome proliferation and hapatocarcinogenesis is observed. No peroxisome proliferation response is detected when these mice are challenged with classical peroxisome proliferators. Typically, such a response includes hepatomegaly, peroxisome proliferation and transcriptional activation of a set of target enzyme genes. Accumulation of lipid droplets observed in liver tissue suggests that Ppara is involved in maintaining the homeostasis of hepatic lipid metabolism.
008286	129S6.129P2(B6)-Nos3^tm1Unc/J	Repository- Live
	Homozygous mutant mice 129S6/SvEvTac background are viable, fertile, normal in size and do not exhibit any gross physical or behavioral abnormalities. On the C57BL/6 congenic background homozygous mutants mice exhibit elevated blood pressure that is about 20 mmHg higher than that seen in normal wildtype siblings. They also show a decreased heart rate. Female homozygotes are smaller in body weight than normal wildtype siblings. Hyperglycemic-euglycemic clamp studies demonstrate that homozygotes exhibit insulin resistance at the level of the liver and peripheral tissues. This mutant mouse strain may be useful in studies of wound healing, hypertension and other cardiovascular defects, insulin resistance, hyperlipidemia and lung development. In an attempt to offer alleles on well-characterized or multiple genetic backgrounds, alleles are frequently moved to a genetic background different from that on which an allele was first characterized. This is the case for the strain ..... For more information please see the full phenotype on the strain data sheet
007688	129S6.B6-Ins2^Akita/CofJ	Repository- Live
	Congenic 129S6/SvEvTac mice heterozygous for the Ins2 ^Akita (Akita) spontaneous mutation are viable and fertile. Mice carrying the Akita mutation exhibit hyperglycemia, polydipsia, polyuria and elevated systolic blood pressure when compared to wild-type controls. The diabetic phenotype is more severe and progressive in the male than in the female. Heterozygous males exhibit significantly increased albuminuria and albumin-to-creatine ratios compared to wild-type controls. The absolute level of 129S6-Akita albumin excretion is intermediate when compared to C57BL/6-Ins2^Akita/J (Stock No. 003548) being the lowest and D2.B6-Ins2^Akita/MatbJ (Stock No. 007562) being the highest. At six months of age, glomerular filtration rates (GFR) are significantly higher in the 129S6-Ins2^Akita mice than either ..... For more information please see the full phenotype on the strain data sheet
002211	129S7/SvEvBrd-Mt1^tm1Bri Mt2^tm1Bri/J	Repository- Live
	Mice homozygous for the Mt1^tm1Bri Mt2^tm1Bri mutation are viable and fertile. They show an increased sensitivity to hepatic poisoning by cadmium. Most homozygous mice given daily injections of cadmium die within 4 days, with most of the males dying within 2 days.
007750	B6(C)-Mir150^tm1Rsky/J	Repository- Live
	Mice homozygous for this targeted allele (miR150^-/- or MiR-150^-/-) are viable and fertile with normal development of T cells, follicular B cells, and MZ B cells. No miR-150 is expressed in spleen, mesenteric lymph node, and thymus of homozygotes. Homozygous mice exhibit B cell expansion (CD19⁺B220loCD5⁺CD43⁺CD23^-; B1a subset) in spleen and peritoneal cavity (with reciprocal reduction in B2 cells) and enhanced humoral immune response (increased serum immunoglobulins of various classes both at steady-state and following T cell-dependent antigen exposure). Homozygous miR-150 deficiency also leads to enhanced induction of the miR-150 target protein c-Myb in activated B and T cells, but no reported change in expression of the miR-150 target genes Foxp1 or ZFP91 in resting or activated B cells. These miR150^-/- mice may be useful in mircoRNA biology, specifically to study the role of miR-150 and its target genes (inc ..... For more information please see the full phenotype on the strain data sheet
008449	B6(Cg)-Rag2^tm1.1Cgn/J	Repository- Live
	These RAG-2^del mutant mice harbor a pan deletion of exon 3 of the targeted locus. Homozygotes (RAG-2^del/del) are viable and fertile, with pan deletion of the entire RAG-2 protein coding region. Homozygous mice may be expected to have the same knockout phenotype as other RAG-2 null mutants or similarly created RAG-2 exon 3 pan-deleted mutants; with hematopoietic and immune system defects including arrested B cell and T cell development at the pro-B and the pro-T cell stages, respectively. These RAG-2^del mice may be useful in studying the role of RAG-2 in B cell and T cell development (including cancer and toxicology research as a xenograft/transplant host), T and B cell receptor (V(D)J) recombination, hematopoiesis, hematology, immunology, and inflammation research. In an attempt to offer alleles on well-characterized or multiple genetic backgrounds, alleles are frequently moved to a genetic background different from that on which an allele was ..... For more information please see the full phenotype on the strain data sheet
016223	B6(Cg)-Tg(Phox2b-cre)3Jke/J	Repository- Live
	Phox2b-Cre BAC transgenic mice are viable and fertile, with Cre recombinase expression under control of the Phox2b promoter/enhancer regions within the BAC transgene. cre-expressing neurons co-express PHOX2B (as shown by in situ hybridization). Phox2b-Cre BAC transgenic mice from founder line 3 exhibit cre expression directed primarily to the hindbrain; specifically the dorsal motor nucleus of the vagus (DMV) in parasympathetic visceral and branchial motor neurons, nodose sensory ganglia, and nucleus of the solitary tract (NTS) cells. No transgene expression is reported in hypothalamus or spinal cord. Although endogenous Phox2b expression is reported in peripheral ganglia along with the enteric nervous system, no peripheral transgene expression is reported for these Phox2b-Cre BAC transgenic mice. When bred with mice containing a loxP-flanked sequence of interest, Cre-mediated recombination will result in deletion of the floxed sequences in the offspr ..... For more information please see the full phenotype on the strain data sheet
001934	B6(D2)-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.
005085	B6.129(Cg)-Cd44^tm1Hbg/J	Repository- Live
	Mice that are homozygous for the targeted mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. No gene product (mRNA or protein) is detected. Although lymphocyte development appears unremarkable, irregularities are observed in lymphocyte trafficking. Tail-injected lymphocytes derived from null animals exhibit an impaired ability to traffic to peripheral lymph nodes, and to a much greater degree, the thymus. Transcription and translation of the targeted allele subsequently lead to the synthesis of the lacZ protein under control of the 5' regulatory elements of the endogenous locus in all cells and tissues normally expressing one or several of the CD44 isoforms. In an attempt to offer alleles on well-characterized or multiple genetic backgrounds, alleles are frequently moved to a genetic background different from that on which an allele was first characterized. It should be noted that the phenotype could vary f ..... For more information please see the full phenotype on the strain data sheet
008355	B6.129(Cg)-Slc6a4^tm1Kpl/J	Repository- Live
	Mice that are homozygous for the serotonin transporter targeted mutation (SERT^-/- or 5-HTT^-/-) are viable and fertile with a superficially unremarkable behavioral phenotype through early adulthood. Serotonin uptake is completely absent in homozygous mice. SERT-deficiency is pleiotropic (many different phenotypic traits). Homozygotes and, to a lesser extent, heterozygotes exhibit diminished responses to serotonin receptor agonists and other classes of drugs (including MDMA, SSRIs, 8-OH-DPAT, and DOI). SERT-mutant mice are also reported to have increased anxiety-like behaviors, altered neuroendocrine and sympathoadrenal responses to even minor stress, diminished aggression, altered emotional learning, substantially increased rapid eye movement (REM) sleep time, reduced brain excitability, increased body temperature, increased colonic motility, reduced spinal reflex to injury, reduced bladder response to stretching, blood pressure responses, diminished bone and muscl ..... For more information please see the full phenotype on the strain data sheet
008195	B6.129-Adipoq^tm1Chan/J	Repository- Live
	Homozygous mice are viable and fertile, with absence of targeted allele expression confirmed in adipose tissue (mRNA) and plasma (adiponectin protein). While homozygous mice have normal glucose tolerance and insulin resistance, beta-oxidation activity is significantly increased in muscle and liver. Homozygotes also have endothelial dysfunction (increased leukocyte rolling and leukocyte adhesion), are protected from DSS-induced colitis, and are more susceptible to myocardial ischemia/reperfusion. When fed a high fat diet, obese homozygotes are significantly heavier with increased insulin levels and altered insulin resistance. These adiponectin-deficient (Adipoq^-/- or Adipo^-/-) mice may be useful in studying obesity, diabetes, insulin resistance, metabolism, inflammation, leukocyte-endothelium interactions, and colitis.
009100	B6.129-Arntl^tm1Bra/J	Repository- Live
	These targeted mutation mice exhibit a loss of both behavioral and molecular circadian rhythms. When placed in constant darkness, the mice undergo an immediate loss of circadian rhythmicity. Locomotor activity is impaired in both light and constant dark cycles. Reduced total activity is seen as the mice age. They display a progressive noninflammatory arthropathy. Little pathology is seen prior to 11 weeks of age, but virtually all homozygotes develop joint ankylosis due to flowing ossification of ligaments and tendons by 35 weeks of age. Bone density and articular cartilage are unaffected. Inactivation of the gene suppresses diurnal variation in glucose and triglycerides. Gluconeogenesis is abolished in homozygotes, but the counterregulatory response of corticosterone and glucagon to insulin-induced hypoglycemia is retained. Homozygotes are viable but not fertile and have an increased mortality rate after 26 weeks of age. A truncated, non-functional protein is ..... For more information please see the full phenotype on the strain data sheet
009106	B6.129-Cyp27a1^tm1Elt/J	Repository- Live
	These mice harbor a targeted mutation of the Cyp27a1 (cytochrome P450, family 27, subfamily a, polypeptide 1) locus that abolishes endogenous gene expression. Homozygous mice (also called Cyp27a1^-/-, cyp27^-/-, or sterol 27-hydroxylase-deficient mice) are viable and fertile, with no RNA or protein expression from the targeted gene detected in liver tissue. Both formation of bile acids and excretion of fecal bile acids are decreased in homozygous mice. Compensatory up-regulation of hepatic enzymes that convert cholesterol to bile acids (bile acid synthesis) is also observed. Cyp27a1^-/- mice exhibit a dramatic increase in cytochrome P450 3A (Cyp3a11) which catalyzes side-chain hydroxylations of bile acid intermediates subsequently facilitating their excretion in the bile and urine. Homozygous mice also have increased expression of other nuclear xenobiotic receptor PXR (pregnane X receptor) target genes.
012885	B6.129-Fbn1^tm1Hcd/J	Repository- Live
	Mice homozygous for this Fbn1 (fibrillin 1) Cys1037Gly missense mutation are small and die before two weeks of age. A similar mutation in man (Cys1039Tyr) is known to cause classic manifestations of Marfan syndrome in humans. Heterozygous mice develop proximal aortic aneurysms, mitral valve thickenings, pulmonary alveolar septation defects, mild thoracic kyphosis, and skeletal myopathy, but 90% reportedly live to one year of age.
016162	B6.129-Gfi1^tm2Tmo/J	Repository- Live
	These mutant mice express EGFP (Enhanced Green Fluorescent Protein) from the endogenous Gfi1 locus. No endogenous gene product (protein) is detected in thymocytes from homozygotes, as detected by FACS analysis. Homozygotes exhibit neutropenia, decreased thymocyte number, and defective B cell and T cell differentiation. The Donating Investigator reports that homozygous mice must be maintained under spf conditions and have a lifespan of 1 year. GFP fluorescence expression mimics the expression pattern of the endogenous gene. Mice that are heterozygous for the targeted mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. Almost all thymocytes from heterozygotes fluoresce. Fluorescence of thymocytes from homozygotes is more intense than fluorescence observed in heterozygotes. At embryonic day 17.5, homozygous embryos exhibit disorganized inner ear sensory epithelia, with abnormal outer hair cells morphology. Neonate ..... For more information please see the full phenotype on the strain data sheet
005111	B6.129-Mmp7^tm1Lmm/J	Repository- Live
	Mice that are homozygous for the targeted mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. No gene product (mRNA) is detected by Northern blot analysis of the small intestine. Immunohistochemical analysis of intestinal tissue from homozygotes does not detect the gene product (protein) in Paneth cells. Mutant mice have impaired innate host defense response due to the lack of mature crypt defensin proteins in intestinal epithelium. These mice are more susceptible to bacterial infection of the small intestine mucosal epithelium. Wound repair (reepithelialization) and neutrophil infiltration following respiratory airway injury is defective. Apoptosis is reduced in prostate tissue following castration, and in pancreatic acinar cells following pancreatic duct ligation. This mutant mouse strain may be useful in studies related to intestinal and pancreatic tumorigenesis, epithelial wound repair, inflammation and mucosal immune resp ..... For more information please see the full phenotype on the strain data sheet
017700	B6.129-Rag1^tm1Mom Fcgrt^tm1Dcr/DcrJ	Repository- Live
	Rag1-/- mFcRn-/- mice are immunodeficient. This strain serves as a control strain for 016919
003124	B6.129-Ucp1^tm1Kz/J	Repository- Live
	Mice that are homozygous for this knockout allele are viable and fertile, but exhibit sensitivity to cold temperatures. The Donating Investigator notes that homozygous offspring have increased survival rates to weaning age when maintained at 25°C to 28°C. No gene product (mRNA or protein) is detected by Northern or Western blot analysis of brown adipose tissue from homozygotes. When maintained at 20°C, homozygotes are resistant to diet induced obesity with reduced white fat depot weights, exhibit a 0.1-0.3°C higher body temperature, and a slightly lowered respiratory quotient compared to controls. Notably, when maintained at 27°C, homozygous mutant mice are no longer resistant to diet induced obesity and gain weight at a rate similar to wildtype controls. An increase in the number of brown adipocytes in the inguinal fat depots is observed in mutant mice maintained at 20°C, on either diet. Homozygotes have reduced levels of plasma fatty acids, circula ..... For more information please see the full phenotype on the strain data sheet
006621	B6.129P2(C)-Ccr7^tm1Rfor/J	Repository- Live
	Homozygous mice are viable and fertile and show delayed primary B or T cell immune responses. Lymph nodes from homozygous mice are devoid of naive T cells and dendritic cells (DCs), but the T cell populations in the blood, the red pulp of the spleen, and in the bone marrow are greatly expanded. Secondary lymph organs exhibit morphological abnormalities, and adoptive transfer experiments demonstrate impaired B- and T-cell migration. In a model of acute allogeneic tumor rejection, homozygous mice fail to reject subcutaneously injected MHC class I mismatched tumor cells, and cytotoxic activity of allospecific T cells is severely compromised. These mutant mice (along with CXCR5-deficient mice - Stock No. 006659) - may be useful in immunological studies of chemokine receptors, including T- and B-cell function in primary and adaptive immune responses, entry of lymphocytes and dendritic cells into secondary lymphoid organs (and their hom ..... For more information please see the full phenotype on the strain data sheet
007572	B6.129P2(Cg)-Rorc^tm2Litt/J	Repository- Live
	Mice homozygous for this Rorc(γt^GFP (or RORγt)^GFP) mutant allele are viable and fertile. While Rorcγ mRNA is detected in liver in Rorc(γ)t^GFP homozygotes, mRNA and protein for the thymus-specific isoform (Rorcγt) encoded by the targeted allele are not detected in the thymus. EGFP expression reports Rorc(γt) transcription in the thymi of adult Rorc(γt)GFP mice. Homozygous mice exhibit abnormal lymph node, Peyer's patch, and lymphoid tissue inducer (LTi) cell development. Mice with Rorcγt-deficient T cells lack tissue-infiltrating proinflammatory T-helper cells (Th17 cells), and are protected from induced autoimmune disease (EAE) on this genetic background. The donating investigator also reports increased thymoma incidence with age in homozygotes. These RorcγtGFP mutant mice may be useful in studying immune system homeostasis, T cell repertoire selection, CD4/CD8 double positive (CD4⁺/CD8> ..... For more information please see the full phenotype on the strain data sheet
013224	B6.129P2-Abl1^tm2.1Goff/J	Repository- Live
	These Abl1^flox/flox mutant mice posses loxP sites flanking exons 5-6 of the c-abl concogene 1, non-receptor tyrosine kinase gene, Abl1. Mice that are homozygous for this allele are viable, fertile, and normal in size. When these Abl1^flox/flox mutant mice are bred to mice that express Cre recombinase, the resulting offspring will have exons 5-6 deleted in the cre-expressing tissue. This strain may be useful for studying the growth, development, and physiology of cardiac tissue.
004744	B6.129P2-Esr1^tm1Ksk/J	Repository- Live
	At birth, mice homozygous for the targeted allele are viable and normal in size and appearence. Female mice exhibit ovaries that lack corpora lutea and hypoplastic uteri that are unresponsive to estrogen. In males, below normal testis weight is associated with a diminished sperm count (10% of normal). Homozygous females are infertile. The fertility of homozygous males is greatly reduced, but not abolished.
004745	B6.129P2-Esr2^tm1Unc/J	Repository- Live
	Mice that are homozygous for this targeted allele are viable, normal in size and do not display any gross physical abnormalities. Stop codons inserted into exon 3 result in the production of truncated transcripts that are unlikely to be translated into a functional protein. Immunostaining of ovary tissue derived from homozygous females fails to detect protein product. Homozygous females are subfertile, producing fewer and smaller litters than wildtype controls. Decreased numbers of oocytes are also produced in response to superovulation (6 compared to 33.7 in wildtype controls). Male homozygotes are fertile and present no marked abnormalities other than epithelial hyperplasia in the bladder wall and prostatic collecting ducts. This mutant mouse strain may be useful in studies related to discerning the physiological roles of the estrogen signaling system.
004859	B6.129P2-Icos^tm1Mak/J	Repository- Live
	Mice that are homozygous for the targeted mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. In wildtype mice, ICOS protein is expressed on activated but not resting T cells, and shows T-cell co-stimulatory function. It delivers a co-stimulatory signal that is essential both for efficient interaction between T and B cells and for normal antibody responses to T-cell-dependent antigens. In homozygous targeted mutation mice, gene product (protein) is undetected on activated T cells by flow cytometry analysis. Homozygotes exhibit severely impaired T cell dependent B cell immunological responses and defective isotype switching. Histological analysis reveals a reduction in the number and size of splenic germinal centers from antigen challenged mutant mice. The basal IgG1 serum level of 8 week-old homozygous mutant mice is 30% of the level found in the wildtype. This mutant mouse strain may be useful in studies of T cell dependent B ..... For more information please see the full phenotype on the strain data sheet
004657	B6.129P2-Icosl^tm1Mak/J	Repository- Live
	Mice that are homozygous for the targeted mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. No gene product (protein) is detected by flow cytometry analysis of spleen cells. Homozygotes exhibit severely impaired T cell dependent B cell immunological responses, with defective B-cell isotype switching to IgG1 and IgE, and impaired T cell production of IL-4 and IL-10. Basal IgG1 serum levels are decreased in mutant mice. Following induction of allergic airway disease (AAD), an experimental model for asthma, IgE levels remain lower than wildtype levels. Antigenic challenges elicit reduced splenic germinal center size and number formation. This mutant mouse strain may be useful in studies of T cell dependent B cell immunological responses and T cell activation.
008875	B6.129P2-Lgr5^{tm1(cre/ERT2)Cle}/J	Repository- Live
	While homozygous mice are not viable, heterozygous Lgr5-EGFP-IRES-CreERT2 mice are viable and fertile; harboring a Lgr5-EGFP-IRES-creERT2 "knock-in" allele that both abolishes Lgr5 (Gpr49) gene function and expresses EGFP and CreERT2 fusion protein from the Lgr5 promoter/enhancer elements. EGFP fluorescence is observed in crypt base columnar cells in small intestine (aka stem cells of the small intestine) and colon. Cre-ERT2 fusion gene activity is inducible; observed in the same cells only following tamoxifen administration. EGFP or inducible CreERT2 expression may also be observed in other Lgr5-expressing cell types (including pre-malignant mouse adenomas, colon cancer cells, epithelial stem cells of the stomach gland, basal epithelial layer stem cells of the mammary glands, and hair follicle stem cells). The donating investigator reports variegated expression of the Lgr5-EGFP-IRES-CreERT2 transgene in the small intestine and colon (something which may h ..... For more information please see the full phenotype on the strain data sheet
004781	B6.129P2-Lyz2^tm1(cre)Ifo/J	Repository- Live
	This strain expresses Cre recombinase from the endogenous Lyzs locus. When crossed with a strain containing loxP site flanked sequence of interest, Cre-mediated recombination results in deletion of the targeted gene in the myeloid cell lineage, including monocytes, mature macrophages, and granulocytes. Mice that are homozygous for the targeted mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. This strain represents an effective tool for generating myeloid cell-specific targeted mutants. View cre expression characterization.
009132	B6.129P2-P2ry2^tm1Bhk/J	Repository- Live
	Mice that are homozygous for the targeted mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. No gene product (mRNA) is detected by Northern blot analysis of kidney tissue. Intracellular calcium ion levels in lung fibroblasts isolated from homozygotes fail to respond to nucleotide (UTP, ATP, ADP, UDP) challenge. Isolated airway epithelial cells have a loss of or diminished intracellular calcium response to nucleotide challenge. Unlike wild-type macrophages, macrophages derived from these animals fail to respond to extracellular stimulation with UTP. ATP- and adenosine 50[g-thio] triphosphate (ATPgS)-evoked aortic endothelium-dependent relaxation is reduced. Luminal nucleotide stimulated distal colonic ion transport is reduced. Homozygotes are more susceptible to lung infections of Pseudomonas aeruginosa, exhibit impaired neutrophil chemotaxis (loss in gradient sensing and migration distance), and loss of sensitivity to ..... For more information please see the full phenotype on the strain data sheet
017443	B6.129P2-Pdha1^tm1Ptl/J	Repository- Live
	These Pdha1^flox8 mutant mice possess loxP sites flanking exon 8 of the pyruvate dehydrogenase E1 alpha 1 (Pdha1) gene. Mice that are homozygous for this allele are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. PDHA1 is catalytic component of the pyruvate dehydrogenase complex (PDC) which is a mitochondrial multienzyme complex involved in lipid synthesis, glucose homeostasis, and metabolism of carbohydrates. When these mutant mice are bred to mice that express Cre recombinase, resulting offspring will have exon 8 deleted in cre-expressing tissues. For example, when crossed to a strain expressing Cre recombinase in the liver, this mutant mouse strain may be useful for studying lipid metabolism, glucose metabolism, and insulin sensitivity in the liver. When bred to a strain expressing Cre recombinase in the central and periphal nervous system (see Stock No. For more information please see the full phenotype on the strain data sheet
016222	B6.129S(Cg)-Id2^{tm1.1(cre/ERT2)Blh}/ZhuJ	Repository- Live
	The Id2-CreERT2 knockin allele was designed to both abolish inhibitor of DNA binding 2 (Id2) gene function and express CreER^T2 fusion protein from the Id2 promoter/enhancer elements. Cre-ERT2 fusion gene activity is inducible and can be observed following tamoxifen administration. As such, when Id2-CreERT2 knockin mice are bred with mice containing loxP-flanked sequences, tamoxifen-inducible Cre-mediated recombination will result in deletion of the floxed sequences in the Id2-expressing cells of the offspring. No mRNA or protein expression from the Id2-CreERT2 allele is observed. The donating investigator reports that homozygous mice are runted with defective lung alveolarization. Other organ systems have not been evaluated. However, Id2-CreERT2 homozygotes may be expected to exhibit the same phenotype as mice homozygous for other null mutations of this gene (including postnatal lethality and defects of the immune system, digestive tract, ..... For more information please see the full phenotype on the strain data sheet
010919	B6.129S-Themis^tm1Gasc/J	Repository- Live
	These Themis^-/- mice contain a mutation designed to disrupt the gene function of endogenous mouse Themis. Homozygous mice are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. Thymocytes from these mice show defective positive selection resulting in fewer mature single positive thymocytes, and show impaired negative selection. This may be due to defective T cell antigen receptor (TCR) signal transduction and/or a so-far undefined signaling or metabolic defect. The defect in positive selection results in altered thymus structure, with the medulla being smaller and more fragmented than wild-type medulla. A greater percentage of Themis^-/- T cells have CD4+CD25+Foxp3+ regulatory and CD62LloCD44hi memory phenotypes than do wild-type T cells. These mice may be useful for studying positive selection of thymocytes and early events in the TCR signaling cascade.
005540	B6.129S-Tnf^tm1Gkl/J	Repository- Live
	Mice homozygous for the targeted mutation are viable and fertile. Development of both lymph nodes and Peyer's patches is normal, and homozygous mutant mice show no apparent phenotypic abnormalities. Homozygous mice completely lack splenic primary B cell follicles and cannot form organized follicular dendritic cell networks and germinal centers. TNF-deficient mice treated to induce skin carcinogenesis develop significantly less benign and malignant tumors than treated wildtype mice. Nonobese homozygous mutant mice show modest decreases in body weight, epididymal fat depot weight, and percent body fat (statistically significant in males at 28 weeks of age). Further characterization indicates that 28 week old male mutant mice display lower insulin, triglyceride, and leptin levels compared to wildtype controls. Characterization of TNF deficient homozygotes injected with gold-thioglucose (GTG) to induce hyperphagic obesity indicates that the presence of TNF does not affect the degree of obe ..... For more information please see the full phenotype on the strain data sheet
009125	B6.129S1(Cg)-Lmna^tm1Stw/BkknJ	Repository- Live
	Mice heterozygotes for this lamin A/C mutation are viable and fertile. The targeted allele does not express both full-length transcripts or stable lamin A/C protein. Homozygotes (Lmna -/- mice) exhibit severely retarded postnatal growth beginning as early as 2 weeks of age and abnormal movement/gait by 3-4 weeks of age that progresses to distinct scoliosis/kyphosis and death around 8 weeks of age. Lmna -/- mice also have tissue-specific alterations of nuclear envelope integrity and mislocalization of the inner nuclear membrane protein emerin. In skeletal and cardiac muscle, this results in rapid myopathic onset closely resembling Emery-Dreifuss muscular dystrophy (EDMD). These mice are a model for the autosomal variant of EDMD and may be useful in studying the role of lamins, inner nuclear membrane proteins, nuclear envelope integrity, and chromatin domain anchoring sites in EDMD. In an attempt to offer alleles on well-characterized or multiple genetic background ..... For more information please see the full phenotype on the strain data sheet
009089	B6.129S1(Cg)-Ndn^tm2Stw/J	Repository- Live
	The mouse locus 7qB4/B5 (syntenic with the Prader-Willi region at chromosome position 15q11-q13 in humans) encompasses the cluster of paternally-expressed imprinted genes Magel2, Ndn, Mkrn3, and Peg12. As maternal imprinting silences the Ndn allele, only the paternally inherited Ndn allele is expressed. The Ndn^tm2Stw (ΔNdn-lacZ or Ndn-lacZ) knock-in allele abolishes endogenous gene function and expresses a β-galactosidase fusion protein. Under control of the upstream promoter/enhancer elements, lacZ expression is directed to the same tissues as the wildtype gene. For example, β-galactosidase expression during embryogenesis is highest in hypothalamus, but also detected in other central nervous system tissues (pons and medulla, spinal cord), peripheral nervous system (dorsal root ganglia), and some non-neuronal tissues (tongue, cartilage brown fat). Breeding heterozygous females with wildtype m ..... For more information please see the full phenotype on the strain data sheet
013787	B6.129S1-Abcc6^tm1Jfk/J	Repository- Live
	Mice that are homozygous for this targeted mutation develop patchy, progressive mineralization of the dermis, kidneys, eyes, arteries, heart and subcutaneous tissues, mimicking the human disease symptoms of pseudoxanthoma elasticum. Mineralization of connective tissue capsule surrounding vibrissae is detectable at 5 weeks of age. Mineralization is associated with collagen fibrils and elastic fibers. Oxidative stress, as indicated by lipid peroxidation and protein oxidation, is higher in liver tissue and serum of mutant mice when compared to wildtype controls. Antioxidant diet reduces the oxidative stress levels in knock out mice, but does not prevent ectopic mineralization. The severity of mineralization can be altered by mineral intake as a diet with elevated magnesium levels prevents pathological connective tissue mineralization in mutants. Serum matrix gla protein (MGP) levels are reduced in homozygotes and the protein is under-carboxylated with diminished activity. Fetuin-A ..... For more information please see the full phenotype on the strain data sheet
004525	B6.129S1-Bcl2l11^tm1.1Ast/J	Repository- Live
	Mice that are homozygous for the targeted mutation are viable, normal in size and do not display any gross physical or behavioral abnormalities. No full length gene product (protein) is immunodetected in spleen cells from homozygous mutant mice. Homozygous mice have lympho-myeloid hyperplasia and reduced platelet number. Lymphocytes are insensitive to certain apoptotic stimuli. Both homozygous and heterozygous mice exhibit progressive systemic autoimmune disease. This mutant mouse strain may be useful in studies of apoptosis, degenerative and autoimmune diseases, including lupus erythematosus and autoimmune kidney disease.
010546	B6.129S1-Jag2^tm1Grid/J	Repository- Live
	Mice that are homozygous for this targeted mutation have a perinatal lethal phenotype, dying shortly after birth due to craniofacial defects (cleft palate, due to fusion of unelevated palatal shelves with the tongue). Embryos homozygous for the mutation and aged embryonic day 10.5-11.5, display a hyperplastic thick apical ectodermal ridge of the limb buds. Homozygous neonates have bilateral cleft of the secondary palate and syndactyly (fused digits) of both forelimbs and hindlimbs, although the hindlimbs are more affected. The number of inner ear hair cells is increased in mutants. Histological analysis reveals an increased number of inner ear hair cells and disorganized stereocilia bundles in mutants. Homozygotes exhibit abnormal thymic morphology and decreased gamma-delta T cell number. Heterozygotes are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. Heterozygotes have abnormal inner ear morphology (increased number of hair c ..... For more information please see the full phenotype on the strain data sheet
010620	B6.129S1-Notch2^tm1Grid/J	Repository- Live
	Mice that are heterozygous for the targeted mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. Due to alternative splicing, 2 in-frame gene products (mRNA) are detected by RT-PCR analysis of homozygous embryos. The mutant transcripts would produce proteins with one or two EGF repeats deleted. Levels of the mutant transcripts are similar to the wildtype transcript level. This targeted allele is a hypomorph. Homozygotes are neonatal lethal due to developmental defects in the kidney, heart and eye vasculature. Homozygous neonates exhibit hypoplastic kidneys, with vasculature lesions at the cortical surface, and lack mature glomeruli. Bilateral microphthalmia, with retrolenticular hyperplasia, is observed in homozygotes. At age embryonic day 11.5, some homozygous embryos exhibit delayed growth, pericardial effusion and widespread hemorrhaging. Homozygous embryos that survive past embryonic day 11.5 display myocardial hy ..... For more information please see the full phenotype on the strain data sheet
009386	B6.129S1-Osr2^tm1Jian/J	Repository- Live
	The Osr2-lacZ mutation abolishes endogenous gene function and expresses a β-galactosidase fusion protein (fused in-frame with the N-terminal 15 amino acid residues of the endogenous protein). Under control of the upstream promoter/enhancer elements, lacZ expression is directed to the same tissues as the wild-type gene (for example, β-galactosidase expression during embryogenesis is detected by E9.5 in the mesonephric vesicles). Homozygous mice die shortly after birth with open eyelids, bilateral cleft of the secondary palate, and thickened tympanic rings. Heterozygotes are viable and fertile. These Osr2-lacZ mice may be useful as a lacZ reporter for Osr2 expression or as a knockout model for studying developmental biology (craniofacial, limb, and kidney).
008377	B6.129S1-Tlr5^tm1Flv/J	Repository- Live
	The toll-like receptor gene targeted in this strain is a sensor for monomeric flagellin, a component of bacterial flagella known to be a virulence factor. These mice have been used to investigate the mechanism of flagellin detection and signalling in antibacterial immune responses to Salmonella typhimurium and Pseudomonas aeruginosa. The gene has been found to be essential for the recognition of bacterial flagellin both in vivo and ex vivo. Mice that are homozygous for this targeted deletion are viable and fertile. Transcripts of this gene are absent from bone marrow-derived macrophages in homozygotes. Relative to controls, homozygotes have increased fat mass throughout the body, particularly in visceral fat, a substantial increase in serum triglyceride and cholesterol levels, increased blood pressure, and higher than normal production of pro-inflammatory cytokines interferon gamma and interleukin 1 beta in adipose tissue. Basal insulin levels and i ..... For more information please see the full phenotype on the strain data sheet
006848	B6.129S2(C)-Cxcr2^tm1Mwm/J	Repository- Live
	The donating investigator reports that homozygous mice are viable and fertile but few pups are produced, and they need a gnotobiotic facility to thrive. Homozygous mice have several abnormalities, including neurological defects, impaired wound healing, impaired angiogenesis, and altered growth of induced/implanted tumors. Homozygotes may also exhibit splenomegaly, lymphadenopathy, and increased susceptibility to various pathogens due to impaired neutrophil recruitment and decreased pathogen clearance during innate immune responses. These mutant mice may be useful in studies of inflammation and immunology and cancer biology. 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 becom ..... For more information please see the full phenotype on the strain data sheet
006144	B6.129S2(C)-Itgae^tm1Cmp/J	Repository- Live
	Mice that are homozygous for this targeted mutation are viable, fertile, normal in size, and do not display any gross physical or behavioral abnormalities. No endogenous gene expression is detected in intraepithelial lymphocytes by FACS analysis or on TGF-beta1-treated splenocytes by immunoprecipitation. Homozygous null mice exhibit reduced numbers of intestinal intraepithelial lymphocytes and lamina propria lymphocytes. These mice may be useful in studies of the immune system, including T cell function. In an attempt to offer alleles on well-characterized or multiple genetic backgrounds, alleles are frequently moved to a genetic background different from that on which an allele was first characterized. It should be noted that the phenotype could vary from that originally described. We will modify the strain description if necessary as published results become available.
006659	B6.129S2(Cg)-Cxcr5^tm1Lipp/J	Repository- Live
	Homozygous (CXCR5-deficient) mice are viable and fertile. Multiple lymphoid organs lack detectable levels of targeted protein expression using flow cytometry, and RNA transcripts are also absent in spleen cells. Homozygous mutant mice exhibit a complex pattern of lymph node (LN) developmental defects (e.g. deficient in inguinal, iliac and parathymic LN, but apparently normal mesenteric LN) accompanied by impaired Peyer's patch development. In addition, CXCR5-deficient mice show a completely disorganized splenic microarchitecture, lacking segregated T- and B-cell areas within the splenic white pulp. These mutant mice (along with CCR7-deficient mice: Stock No. 006621) may be useful in immunological studies of chemokine receptors, including T- and B-cell function in primary and adaptive immune responses, entry of lymphocytes and dendritic cells into secondary lymphoid organs and their homing to T- and B-cell zones therein. In ..... For more information please see the full phenotype on the strain data sheet
013152	B6.129S2(Cg)-Fut7^tm1Jbl Fut4^tm1Jbl/J	Repository- Live
	In this strain the catalytic domains of the fucosyltransferase 4 (Fut4) gene and the fucosyltransferase 7 (Fut7) gene were replaced with neomycin resistance (neo) cassettes, abolishing gene function. Mice homozygous for both alleles are viable, fertile, and normal in size. These mice lack inflammation-dependent leukocyte recruitment; specifically neutrophils, eosinophils, monocytes, T cells and dendritic cells are unable to migrate to extravascular sites of acute and chronic inflammation. The peripheral nodes in these mice do not support normal B lymphocyte or naive T lymphocyte homing. FucTIV-null defects in leukocyte E- and P-selectin counterreceptor activity and HEV-born L-selectin ligand activity are reversed in the double null mutant mice. Neutrophils in the doubly null mice, unlike FucT-7VII null leukocytes, are virtually devoid of E- and P-selectin ligand activities. These mice also exhibit extreme leukocytosis characterized by decreased neutrophil turnover and in ..... For more information please see the full phenotype on the strain data sheet
003239	B6.129S2-Ciita^tm1Ccum/J	Repository- Live
	Mice homozygous for the targeted mutation are viable and fertile when housed under specific pathogen-free conditions. Mice do not express conventional MHC class II molecules on the surface of splenic B cells and dendritic cells. In addition, interferon gamma stimulated peritoneal macrophages and somatic tissues from homozygous mutant mice do not express MHC class II molecules. The levels of invarient chain and H2^m gene transcripts are substantially decreased in class II transactivator deficient mice. Homozygous mice have very few mature CD4 T cells in the periphery despite MHC class II expression in the thymus.
003584	B6.129S2-H2^dlAb1-Ea/J	Repository- Live
	Mice that are homozygous null for MHC class II genes H2-Ab1, H2-Aa, H2-Eb1, H2-Eb2, H2-Ea are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. MHC class II gene products (mRNA or protein) are not detected. A dramatic decrease is observed in the number of CD4 positive T cells in thymus, spleen and lymph nodes. This strain should serve as a suitable recipient of xenogenic Class II MHC transgenes allowing the engineering of mouse models of human MHC Class II-associated diseases. 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.
005027	B6.129S2-Il10rb^tm1Agt/J	Repository- Live
	Mice that are homozygous for the targeted mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. No gene product (mRNA) is detected by Northern blot analysis of ES cells. After 12 weeks of age, approximately 60% of mutant mice develop chronic colitis and increased numbers of splenocytes resulting in splenomegaly. Bone marrow-derived macrophages, splenocytes and peritoneal cells derived from homozygotes do not respond to IL-10. Mutant mice housed in non-SPF conditions do not breed well. This mutant mouse strain may be useful in studies of the role of interleukin-10 in inflammatory diseases such as chronic colitis.
008819	B6.129S2-Itgb3^tm1Hyn/JSemJ	Repository- Live
	Mice that are homozygous for this targeted allele have limited viability, with significant embryonic lethality attributed to fetal hemorrhaging and placental defects. Surviving mice are fertile. No gene product (protein) is detected on the surface of platelets. Pups surviving to three weeks of age may be subject to skin and gastrointestinal tract hemorrhaging. Gastrointestinal tract bleeding is commonly observed in adults and is frequently associated with an enlarged spleen. Erythrocyte number, hemoglobin, hematocrits and thrombus formation are all reduced while bleeding time is prolonged. Varying degrees of liver and kidney necrosis are also observed. Although increased numbers of osteoclasts are observed (3.5 fold over that seen in heterozygotes) they appear to be dysfunctional, having a reduced ability to resorb whale dentin in vitro. Mice are osteosclerotic and hypocalcemic. Enhanced tumor angiogenesis and vascular endothelial growth factor-induced blood vessel growth are ob ..... For more information please see the full phenotype on the strain data sheet
002507	B6.129S2-Serpine1^tm1Mlg/J	Repository- Live
	Mice homozygous for this mutation develop normally and are viable and fertile. Compared to wild type mice, pulmonary clot lysis is increased in the heterozygote and further increased in the homozygote. Endotoxin induced venous thrombosis is decreased compared to wild type mice. Thus, disruption of the Serpine1 gene induces a mild hyperfibrinolytic state. Hemostasis is normal in homozygous mutants.
006141	B6.129S2-Thbs1^tm1Hyn/J	Repository- Live
	Mice homozygous for this targeted mutation are viable and fertile, with an approximate 20% decrease in embryo/neonate viability and a mild and variable lordotic curvature of the spine apparent from birth. Homozygous mice have an abnormal, but no full length transcript in multiple tissues. Western analysis confirmed the absence of the protein in platelets. Homozygotes exhibit an increase in the number of circulating white blood cells. During the first four to ten weeks of life, homozygotes exhibit patches of acute and organizing pneumonia. At later time points, there is considerable hyperplasia of the various epithelial cell lineages. Mutant mice also have an increased number of retinal endothelial cells and inappropriate remodeling and maturation of retinal vasculature following injury. On the FVB/N background, spontaneous tumor growth and vasculature are significantly increased compared to wildtype. Mutant mice may be useful in studies of inflammatory responses in the lungs, eye, and ..... For more information please see the full phenotype on the strain data sheet
008117	B6.129S4(129S6)-Sst^tm1Ute/J	Repository- Live
	Mice that are homozygous for the targeted mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. No gene product (mRNA or protein) is detected by Northern blot, in situ hybridization or radioimmunoassay analysis of brain tissue. Homozygotes exhibit increased baseline plasma growth hormone, corticosterone and total ghrelin levels compared to wildtype. Mutant mice have impaired motor performance ability. Somatostatin-deficient mice have enlarged stomachs with an increased number of parietal cells and hyperchlorhydria. Hippocampal neprilysin activity is diminished. Compared to wildtype controls, amyloid beta 42 peptides levels are elevated in the hippocampus. This mutant mouse strain may be useful in studies of gastric homeostasis, learning and memory and endocrinology.
003610	B6.129S4-Cd80^tm1Shr Cd86^tm2Shr/J	Repository- Live
	Cd80/Cd86-mediated signaling is critical to germinal center formation and Ig class switching in vivo. Mice homozygous for both the Cd80 (B7-1) and Cd86 (B7-2) targeted mutations are viable, fertile and have a normal life span. Homozygous null Cd80/Cd86 mice fail to generate antigen specific IgG1 and IgG2a responses. During the postimmunization period (seven-10 days) they have smaller spleens devoid of germinal centers. Unimmunized null mice exhibit a three to five fold reduction in total serum immunoglobulin and IgG2a. Levels of IgG1 are also reduced five to 10 fold. Levels of IgM and IgG3 are elevated three to five fold. When immunized, antigen specific IgG1 and IgG2a isotype levels are 0.1% that of wild-type levels. Levels remain low even when immunization is performed with adjuvent. This strain is also resistant to myelin oligodendrocyte glycoprotein (MOG) 35-55 peptide-induced experimental autoimmune encephalomyelitis (EAE), a T cell-mediat ..... For more information please see the full phenotype on the strain data sheet
003611	B6.129S4-Cd80^tm1Shr/J	Repository- Live
	Cd80 (B7-1) null mice are viable and fertile. They possess normal numbers of B and T lymphocytes but exhibit a diminished mixed lymphocyte response. Following immunization, antigen specific IgG1, IgG2a and IgM isotypes are 25%-50% that of wild type levels. Survival of certain tissue allografts are slightly prolonged in Cd80 null mice.
003609	B6.129S4-Cd86^tm1Shr/J	Repository- Live
	Cd86 (B7-2) null mice are viable and fertile. Unimmunized mice have normal levels of serum immunoglobulin and normal numbers of B and T lymphocytes. Upon intravenous immunization without adjuvant, they fail to form germinal centers or undergo isotype switching and antigen specific IgG1 and IgG2a isotypes are found to be 5% that of wild type levels. When the immunization route is subcutaneous, IgG1 and IgG2a levels are the same as in wild type mice.
002867	B6.129S4-Icam1^tm1Jcgr/J	Repository- Live
	Mice homozygous for the Icam1^tm1Jcgr targeted mutation are viable and fertile. The phenotype is similar to C57BL/6J-Icam1^tm1Bay (Stock No. 002127) but are reported to be less leaky. Characteristics include longer lifespan and nephritis with no apparent lung involvement.
008102	B6.129S4-Ltb4r1^tm1Adl/J	Repository- Live
	Mice homozygous for this BLTR (BLT1)-deficient allele are viable and fertile. Northern blot analysis of neutrophils, macrophages, lymph nodes, lungs, and spleens isolated from homozygous mice show absence of the normal transcript and presence of the expected larger transcript (due to the insertion of the neomycin resistance cassette in exon 2 of the targeted gene), albeit at lower levels than the wild type transcript. Homozygous disruption of this allele confers impaired leukocyte function (chemotaxis, recruitment, firm adhesion). For example, homozygotes exhibit substantially diminished recruitment of eosinophils in a model of peritonitis, effector T cells in a model of allergic pulmonary inflammation, and neutrophils in a model of rheumatoid arthritis. As the G protein-coupled receptor BLTR/BLT1 is expressed on myeloid leukocytes (including neutrophils, macrophages, eosinophils, T cell lymphomas, and effector T cells (TH1 CD4⁺ cells, TH2 CD4⁺ cells, and effecto ..... For more information please see the full phenotype on the strain data sheet
008236	B6.129S4-Sele^tm1Dmil/J	Repository- Live
	Mice homozygous for this E-selectin mutant allele (E^-/-) are viable and fertile with normal circulating leukocyte and platelet profiles. While several transcripts are generated from the mutant locus (due to transcription from the endogenous promoter and/or bidirectional transcription initiated from the pgk promoter in the neo-resistance cassette), these frame-shifted transcripts are non-functional with several predicted stop codons. In contrast to wildtype mice, no protein product is detected in several tissues isolated from LPS-injected homozygous mice. Homozygous mice exhibit abnormal responses to inflammatory stimuli. E-selectin deficiency results in endostatin unresponsiveness (as shown in corneal angiogenesis (mixed B6;129 genetic background) and aortic explant (C57BL/6 congenic background) experiments). These E-selectin mutant mice may be useful in studying inflammation, leukocyte rolling, leukocyte-endothelial adhesion, angiogenesis, and cancer. Of note, E-sel ..... For more information please see the full phenotype on the strain data sheet
006243	B6.129S4-Timp1^tm1Pds/J	Repository- Live
	Homozygous females and hemizygous males (the gene is X-linked) are viable and fertile. No endogenous transcript is detected in lung tissue from affected mice by Northern blot analysis.. Homozygous mice have increased resistance to corneal and pulmonary infection with P. aeruginosa, and have altered immune, hematopoietic, and vascular permeability in bleomycin-induced lung injury trials. Homozygotes also show increased and continued progression of aneurysm formation compared with wild-type mice in induced thoracic aortic aneurysm (TAA) models. Mice with this X-linked targeted mutation may be useful in studies of cornea and pulmonary infection, pulmonary injury and aneurysm, as well as of P. aeruginosa resistance in individuals with unresolved, antibiotic-resistant pulmonary infections, such as those often observed in cystic fibrosis patients. In an attempt to offer alleles on well-characterized or multiple genetic backgrounds, alleles are frequently moved to a genet ..... For more information please see the full phenotype on the strain data sheet
010672	B6.129S4-Tnfrsf11b^tm1Eac/J	Repository- Live
	Mice homozygous for this osteoprotegerin (OPG)-mutant allele are viable and fertile. While a smaller transcript is made from the disrupted allele, the spliced product is predicted to be out of frame and result in a nonfunctional protein. OPG-deficient mice exhibit dysregulation of osteoclast production leading to drastic changes in the bone architecture; homozygotes develop severe osteoporosis, gross deformations in bone structure, decreased bone density, and altered long bones physical dimension. Hematopoietic, B lymphocyte, and dendritic cell functions are also dysregulated. It has been the experience of The Jackson Laboratory that animals homozygous for the Tnfrsf11b^tm1Eac exhibit significant (~50%) pre-wean mortality. In an attempt to offer alleles on well-characterized or multiple genetic backgrounds, alleles are frequently moved to a genetic background different from that on which an allele was first characterized. It should be noted that the phenotype ..... For more information please see the full phenotype on the strain data sheet
006133	B6.129S4-Vdr^tm1Mbd/J	Repository- Live
	Heterozygous mice are phenotypically indistinguishable from wildtype siblings. As originally characterized on a mixed B6;129 genetic background, homozygous mice are viable and fertile with normal survival until approximately 14 months. RNA isolated from the intestine and kidney show a truncated deletion of the second zinc finger coding region followed by a premature termination codon, resulting in the absence of receptor protein. Homozygous mice exhibit an identical phenotype as the human disease hereditary vitamin D-dependent rickets type II (HVDDR). As early as 21 days of age, mutant mice demonstrate hypocalcemia, hypophosphatemia, hyperparathyroidism, increased serum parathyroid hormone, abnormal blood mineral levels, and growth retardation. In addition, renin and plasma angiotensin II levels are increased. Homozygous mice are hypertensive and exhibit cardiachypertrophy. At 4 weeks of age, homozygous mice exhibit perioral and periorbital alopecia that progresses over the entire bod ..... For more information please see the full phenotype on the strain data sheet
016902	B6.129S5-Irf6^{Gt(OST398253)Lex}/J	Repository- Live
	In this strain a gene construct (VICTR48), containing a neomycin resistance (neo), integrated downstream of the splice donor site of the interferon regulatory factor 6 (Irf6) gene. Mice that are heterozygous for the gene trap mutation are viable and fertile. Homozygotes have a perinatal lethal phenotype. IRF6 is a transcription factor involved in keratinocyte, epidermal, and epithelial cell proliferation as well as craniofacial development. IRF6 is expressed in the skin and oral epithelium from E17.5. Heterozygotes have mild oral adhesions between epithelial layers of the maxilla and mandible. Homozygous embryos have taut, shiny skin, lack external ears and have snouts and jaws shorter and more rounded than their wild-type littermates. They also have short forelimbs that lacked visible digits, a single caudal projection that lacked visible hindlimbs and tail, and a cleft secondary palate. Their skeleton also exhibits a split xiphoid process, shortened sternum, delayed oss ..... For more information please see the full phenotype on the strain data sheet
004936	B6.129S6(Cg)-Spp1^tm1Blh/J	Repository- Live
	Mice that are homozygous for the targeted mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. No gene product (mRNA) is detected by RT-PCR analysis of embryonic fibroblasts and kidney. Immunohistochemical analysis of kidney and bone tissue also fails to detect gene product (protein). Homozygotes exhibit disorganized ultrastructural wound matrix remodeling and defective macrophage infiltration and accumulation at sites of injury and infection. Experimentally induced hyperoxaluria results in renal tubule deposition of calcium oxalate crystals. Accelerated ectopic calcification mineralization in soft tissues occurs after subcutaneous implantation of glutaraldehyde-fixed aortic valve tissue. Mutant macrophage response to mycobacteria infection and pulmonary granulomatous response and inflammation are impaired. According to a recent publication (Hsieh et al 2006 Cancer Res 2006 66:7119-27), mutant mice treated with a skin ch ..... For more information please see the full phenotype on the strain data sheet
008101	B6.129S6(FVB)-Ptgs2^tm1.1Fun/J	Repository- Live
	Mice that are homozygous for the targeted mutation are viable, normal in size and do not display any gross physical or behavioral abnormalities. Female homozygotes are not fertile. The protein gene product does not have cyclooxygenase activity while the peroxidase activity is normal as measured by LPS induction of macrophages derived from mutant mice. Mutant mice are more sensitive to collagen treatment resulting in reduction of platelet numbers (indicating enhanced thrombogenesis) and exhibit a higher frequency of sudden death due to thromboxane receptor agonist treatment. No prolonged bleeding time from LPS administration is observed. Prostaglandin E metabolite levels are diminished in urine. Three month old mutant mice have elevated systolic blood pressure (measured by the tail cuff method). Homozygotes exhibit undersize, pale kidneys with atrophic cortices, interstitial inflammation, hypoplastic glomeruli and glomerulosclerosis. This mutant mouse strain may be useful in studies of ..... For more information please see the full phenotype on the strain data sheet
013061	B6.129S6-Ccr6^tm1(EGFP)Irw/J	Repository- Live
	Homozygous Ccr6-EGFP mice are viable and fertile; harboring an enhanced green fluorescent protein (EGFP) allele that both abolishes endogenous Ccr6 gene function and expresses EGFP from the Ccr6 promoter/enhancer elements. As such, robust EGFP fluorescence is directed to all mature B cells, subpopulations of splenic CD4⁺ and CD8⁺ T cells, CD4⁺ and CD4^- myeloid dendritic cells (DC), some CD11c⁺ DC, and most CD11b⁺ myeloid DC. Fluorescence is detected at lower levels in epidermal Langerhans cells (LC). These mice exhibit abnormalities in Peyer's patches, decreased isolated lymphoid follicle development in the intestine, and reduced numbers of intestinal M cells.
008881	B6.129S6-Cd1d1/Cd1d2^tm1Spb/J	Repository- Live
	Homozygous (CD1-deficient) mice are viable and fertile, with no protein expression from the targeted locus observed on antigen presenting cells (APC) by FACS analysis. Natural killer T (NKT) cells are restricted by MHC class I-like CD1 molecules expressed on APC, and because the CD1 molecule is also required for the development of NKT cells, these CD1-deficient mice selectively lack NKT cells. Because activated NKT cells normally produce interleukin-4 (IL-4), interferon-gamma, granulocyte-macrophage colony-stimulating factor, IL-2 and TNF-alpha, CD1-deficient mice may exhibit abnormal immune responses dependent upon such cytokines/chemokines. These CD1-deficient mice may be useful in studying NKT cell immunology; including Th1- and Th2-responses, antiviral and antitumor responses, asthma, various inflammatory responses, autoimmunity and peripheral tolerance.
010537	B6.129S6-Mlxipl^tm1Kuy/J	Repository- Live
	Mice that are homozygous for the targeted mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. Mutant mice exhibit increased glucose and insulin levels, decreased free fatty acids, reduced epididymal and brown fat weight, and reductions in liver glycolysis and lipogenic enzymes. Mice fed diets high in sucrose or fructose died within one week most likely as a result of inhibited glycolysis. On a high starch diet, mice developed moderate insulin resistance and increased liver weight. This mutant mouse strain may be useful in studies of lipogenesis and glucose metabolism.
014633	B6.129S6-Nr1h2^tm1Djm/J	Repository- Live
	In this strain a neomycin (neo) resistance cassette replaces exons 5-6 of the nuclear receptor subfamily 1, group H, member 2 (Nr1h2) gene, abolishing gene function. Homozygotes are viable, fertile, and normal in size. Also known as liver X receptor beta (Lxrβ), Nr1h2 binds to retinoid X receptors (RXRα, RXRβ, RXRγ; NR2B1, NR2B2, and NR2B3) and is activated by oxysterols to regulate the expression of genes involved in cholesterol metabolism. Homozygous Lxrβ^-/- mice lose their ability to appropriately regulate cholesterol, lipid, and carbohydrate metabolism, and have defects in immune function. These defects are more severe when combined with the knockout of Lxrα (available as Stock No. 013761). These mice may be useful for studying lipid and cholesterol metabolism, and regulation of the immune response.
013761	B6.129S6-Nr1h3^tm1Djm/J	Repository- Live
	Homozygous Nr1h3 (nuclear receptor subfamily 1, group H, member 3) targeted mutation mice lose their ability to respond normally to dietary cholesterol. Mice maintained on cholesterol diets fail to induce transcription of the Cyp7a1 (cytochrome P450, family 7, subfamily a, polypeptide 1) gene, a rate-limiting enzyme in bile acid synthesis, and fail to induce expression of ABCG5 (ATP-binding cassette, sub-family G (WHITE), member 5) and ABCG8 (ATP-binding cassette, sub-family G (WHITE), member 8), ATP-binding cassette transporters that are required for cholesterol secretion into bile. Large amounts of cholesterol rapidly accumulate in the liver leading to impaired hepatic function. Impaired reverse cholesterol transport from peripheral tissues is also observed. The ability to regulate lipids and carbohydrates is also lost. Defects in innate immune responses by activated macrophages have also been described. Males are not infertile, but show a significantly higher number ..... For more information please see the full phenotype on the strain data sheet
009598	B6.129S6-Plac8^tm1Bhk/J	Repository- Live
	Homozygous (Onzin^-/-) mice are viable and fertile with a loxP-flanked pgk-neo cassette disrupting exon 4 of the Plac8 (placenta-specific 8 or Onzin) locus. Tissues from homozygous mice have no RNA (full-length/isoforms/altered splice variants) or protein expression from the targeted allele. Histological and peripheral blood analysis of homozygous mice is indistinguishable from wild-type mice. Similarly, leukocyte populations in the thymus, spleen, and lymph nodes exhibit no gross changes in the development of T cell, B cell, or macrophage populations associated with Onzin-deficiency. Compared to wild-type mice, Onzin-deficient mice exhibit impaired host defense; when given intraperitoneal injection of Klebsiella pneumonia, homozygotes develop acute peritonitis and heightened innate immune response consistent with an increased bacterial burden. Neutrophils isolated from homozygous mice exhibit normal phagocytosis but less effective killing of bacteria. Be ..... For more information please see the full phenotype on the strain data sheet
013106	B6.129S7-Sox9^tm2Crm/J	Repository- Live
	These Sox9^flox mutant mice possess a loxP site upstream of exon 2, a neomycin resistance (neo) cassette followed by another loxP site downstream of exon 3 of the SRY-box containing gene 9 gene, Sox9. Mice that are homozygous for this allele are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. When these mutant mice are bred to mice that express Cre recombinase, the resulting offspring will have exons 2-3 deleted in the cre-expressing tissue, resulting in inactivation of Sox9 gene function. Breeding these Sox9^flox mice to strains that express Cre recombinase ubiquitously results in severe bone defects and perilethality. This strain may be useful for studying cell fate determination including endochondral bone formation, limb development and patterning, joint formation, and hair and stem cell differentiation
003568	B6.129S7-Trp63^tm2Brd/J	Repository- Live
	Mills 1999 Nature 398:708 describes the homozygous phenotype on a mixed B6-Tyr^c-Brd;129S7(129S5) background. Further, they not distinguish between the two targeted alleles (pTV6H(90)-generated p63^Brdm1 [Trp63^tm1Brd] or pTV12E(60)-generated p63^Brdm2 [Trp63^tm2Brd]) as both "produced an identical phenotype." Homozygous mice are born alive, but die several hours after birth. No transcripts have been detected in homozygotes. They have striking developmental defects, exhibiting truncated forelimbs, absent hindlimbs, and transparent skin with a complete lack of hair follicles. Both the gross and histological appearance of internal organs is normal. Functional permeability of the skin is dramatically increased; homozygous mice lose thirty times more water than normal littermates. It is presumed that death occurs from dehydration. Heterozygous mice are viable, fertile, and do not exhibit any overt developm ..... For more information please see the full phenotype on the strain data sheet
017292	B6.129X1(Cg)-Pkd2^tm1.1Tjwt/J	Repository- Live
	These Pkd2^cond mutant mice possess loxP sites flanking exons 11-13 of the polycystic kidney disease 2 (Pkd2) gene. Mice that are homozygous for this allele are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. PKD2 is a calcium-permeable membrane channel expressed in fetal kidneys and in most adult tissues. Along with PKD1, PKD2 regulates cell proliferation, cell migration, and interactions with other cells, and is necessary for normal development and function of the kidneys. Mutations in PKD2 are responsible for 15% of all cases of autosomal dominant polycystic kidney disease (ADPKD). When bred to mice that express tissue-specific Cre recombinase, resulting offspring will have exons 11-13 deleted in the cre-expressing tissues. This strain may be useful for studying renal development in ADPKD. For example, when crossed to a strain expressing Cre recombinase in endothelial cells (see Stoc ..... For more information please see the full phenotype on the strain data sheet
007214	B6.129X1(FVB)-Nr1h4^tm1Gonz/J	Repository- Live
	Mice that are homozygous for the targeted Nr1h4 allele are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. No Nr1h4 protein product is detected in liver tissue although an aberrant transcript appears to be generated. Homozygous mice display a proatherogenic serum lipoprotein profile characterized by elevated levels of serum and hepatic cholesterol and triglycerides. Serum bile acids are also elevated. When fed a diet supplemented with 1% cholic acid, severe wasting, hypothermia and increased mortality is observed. Wildtype mice fed a similar diet display no ill effects. Levels of fecal bile excretion are reduced in homozygotes. This mutant mouse strain represents a model that may be useful in studies related to bile acid and lipid homeostasis. In an attempt to offer alleles on well-characterized or multiple genetic backgrounds, alleles are frequently moved to a genetic background different from that on which an ..... For more information please see the full phenotype on the strain data sheet
014172	B6.129X1-Camkk2^tm1Tch/J	Repository- Live
	Mice that are homozygous for this knockout mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. The Donating Investigator reports that mutant mice have reduced osteoclast differentiation and function. Cortical neurons isolated from double mutant mice carrying the Camkk2^tm1Tch and Camkk1^tm1Tch (see Stock No. 006606) alleles exhibit shortened axons and dendrites.
008691	B6.129X1-Ebi3^tm1Rsb/J	Repository- Live
	Mice homozygous for this Ebi3-mutant allele are viable and fertile with the donating investigator reporting no overt autoimmunity or inflammatory disease associated with the mutation. No RNA from the targeted gene is observed in splenocytes isolated from homozygotes. Ebi3-deficiency leads to impaired T_reg activity with failure to control homeostatic proliferation. Homozygotes exhibit decreased numbers and function of invariant natural killer T cells (iNKT); stimulated iNKT cells show impaired IL-4 production both in vivo and in vitro. Homozygotes are resistant to oxazolone-induced colitis (mediated primarily by T helper (Th) 2-type cytokine production by iNKT cells), whereas Ebi3-deficiency shows no affect on trinitrobenzene sulfonic acid-induced colitis (a predominantly Th1-mediated colitis model). These Ebi3-mutant strains may be useful in studying T_reg function, IL12 heterodimeric cytokines (such as IL-35 and IL-27),IFNgamma production, and Th1/Th ..... For more information please see the full phenotype on the strain data sheet
006112	B6.129X1-Elane^tm1Sds/J	Repository- Live
	Homozygous mice are viable, fertile and phenotypically normal in the absence of inflammatory stress. Homozygotes do not express the targeted gene in bone marrow myeloid cells. Homozygous mice have increased susceptibility to sepsis, morbidity, and mortality following intraperitoneal injection of Gram-negative (e.g. (K. pneumoniae and E. coli), but not Gram-positive (e.g. (S. aureus), bacteria. Despite this, mutant mice are not at increased risk to spontaneous infection. Although neutrophil, T cell, and macrophage migration/recruitment to the site of infection is unaffected in homozygous mutant mice, neutrophils show impaired bactericidal activity. Further, homozygous mice treated with a broad-spectrum inflammatory stimulus (zymosan) have impaired leukocyte firm adhesion and transmigration as well as reduced pro-inflammatory cytokine production. Upon exposure to cigarette smoke, homozygous mice are protected from the accumulation of neutrophils and macrophages in th ..... For more information please see the full phenotype on the strain data sheet
000021	B6.Cg-A^y/J	Repository- Live
	Mice homozygous for the yellow spontaneous mutation (A^y) die before implantation or shortly thereafter. The time of death and type of abnormality is, in part, determined by the genetic background on which the mutation is placed. Hair pigment in heterozygous mice is yellow, but eyes are black. Heterozygotes usually become obese and infertile after the first few months. Increased adipose tissue mass is due to fat-cell hypertrophy. It has been hypothesized that the obesity results from the observed reduction in hypothalamic norepinephrine and dopamine levels. Insulin resistance and hyperglycemia follow development of hyperinsulinemia in early adulthood, although the degree is less severe than on the KK/UpJ genetic background (Stock No. 002468). Heterozygotes are also more susceptible to several kinds of tumors than normal mice, and their spleen cells cause a significantly lower graft vs. host reaction. The level of ..... For more information please see the full phenotype on the strain data sheet
007083	B6.Cg-Cav1^tm1Mls/J	Repository- Live
	Mice that are homozygous for the targeted mutation are viable, fertile and do not display any gross physical abnormalities. Mutant mice exhibit exercise intolerance when challenged and are slightly hyperphagic. No gene product (protein) is detected by Western blot analysis in adipose, lung and heart tissues or in cultured mouse embryonic fibroblasts (MEFs). A decrease in the level of co-expressed caveolin-2 protein is immunodetected. At age 4-5 months, mutant mice are often smaller than their wildtype littermates. By one year of age, mutant mice weigh 5 to 7 grams less than wildtype, and are resistant to diet-induced obesity. Progressive adipose pathology results in reduced white adipose tissue with abnormally small adipocytes and enlarged, hyperplastic brown adipose tissue. Homozygotes display lipid metabolism and uptake disruption with elevated serum triglycerides and free fatty acid levels, and reduced leptin levels. Isolated aortic tissue segments have a diminished vasoconstriction ..... For more information please see the full phenotype on the strain data sheet
000305	B6.Cg-Fbn1^Tsk +/+ Pldn^pa/J	Repository- Live
	Mice homozygous for the pallid spontaneous mutation Pldn^pa and nonagouti (a) have pink eyes and a light, yellow-brown coat. The Pldn^pa/Pldn^pa mice have a slightly lighter coat than strains that are homozygous for the pink-eyed dilution allele (Oca2^p/Oca2^p). Viability of homozygous mutant mice is slightly reduced. Some homozygotes have slightly abnormal behavior, with abnormal postural responses and head tilting due to the absence of otoliths in the sacculus and utriculus in many but not all mutant mice. The effect of pallid on behavior and otolith morphology appears to be a result of manganese deficiency. Homozygotes display defective mucopolysaccharide synthesis in the otolith matrix and a slower rate of transport of manganese, L-dopa, and L-tryptophane in the brain. Homozygotes have elevated basal and testosterone-induced levels of the kidney lysosomal enzymes b-glucuronidase, b-galactosi ..... For more information please see the full phenotype on the strain data sheet
014632	B6.Cg-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
004088	B6.Cg-Foxp3^sf/J	Repository- Live
	Scurfy mice develop an X-linked lymphoproliferative disease resulting from defective T cell tolerance. Phenotypes associated with these mice include runting, scaly, crusty skin on the eyelids, ears and tails, dermal thickening, squinted eyes, cachexia, reddening and swelling of the genital papilla, and small testicles that are retained in the abdominal cavity. This disorder, which parallels X-linked autoimmunity-allergic disregulation syndrome (XLAAD) in humans, results in Coombs' test-positive anemia, hypergammaglobulinemia, a small, thin thymus, and lymphohistiocytic proliferation in the skin and lymphoid organs, with splenomegaly, lymphadenomegaly, and hepatomegaly. Foxp3^sf/Y males generally die by 16-25 days of age. Transgenic expression of Foxp3 prevents scurfy disease in Foxp3^sf/Y mice. Neonatal thymectomy of scurfy males ameliorates disease and increases lifespan; athymic nude (Foxn1^nu/Foxn1^nu) ..... For more information please see the full phenotype on the strain data sheet
016101	B6.Cg-Il7r^tm1Imx Tg(Lck-Il7r)1676Trma/J	Repository- Live
	These transgenic mice express the mouse Il7r (interleukin-7 receptor) gene under the control of the proximal mouse Lck (lymphocyte protein tyrosine kinase) promoter, and are homozygous for the Il7r^tm1Imx allele. Transgene expression is detected in the thymus, specifically in T cells and thymocytes. No transgene expression is detected in B cells, NK cells, monocytes or in bone marrow. Transgene expression is reduced in CD3-CD4-CD8- (triple negative) thymocytes. The phenotype of mice homozygous for the Il7r^tm1Imx allele is substantially rescued by expression of the transgenic wildtype Il7r in the thymus. Transgenic IL-7Rα protein is expressed in most thymocytes at levels similar to those seen in wildtype controls. The number of thymic cells is restored to 74% of wildtype control number. Although T cell development is substantially restored, peripheral T cells express minimal IL-7Ra (reduced by >90%) and are poorly ..... For more information please see the full phenotype on the strain data sheet
012566	B6.Cg-Mapk11^tm1Jda Mapk14^tm1Jda/J	Repository- Live
	Mice homozygous for both polymorphic alleles (p38αβ^Y323F) are viable, fertile and of normal size and weight. Each mutation introduces a tyrosine to phenylalanine at codon 323 (Y323F) within exon 11 of their respective locus; this prevents phosphorylation of residue 323 for each protein. While each polymorphism should have no direct affect on canonical MAPK cascade-induced p38 activation, the T cell receptor (TCR)-mediated alternative activation pathway of p38 activation is abolished in homozygous p38αβ^Y323F mice. Accordingly, activation-induced p38 phosphorylation in p38αβ^Y323F T cells is reduced relative to the respective contribution of each isoform to total T cell p38 activity (p38β^Y323F > p38α^Y323F > p38αβ^Y323F). This failure to activate both the p38α and p38β isoforms in T cells via TCR engagement results in impaired T cell proliferation compare ..... For more information please see the full phenotype on the strain data sheet
007745	B6.Cg-Mir155^tm1.1Rsky/J	Repository- Live
	Mice homozygous for this loss-of-function/reporter allele (bic/mir-155-/-) are viable and fertile. The lacZ reporter allows the detection of bic promoter transcriptional activity using fluorescence activated cell sorting (FACS). In homozygotes, miR-155 expression is undetectable in activated splenic B cells. In heterozygotes, approximately 60% of germinal center (GC) B cells express the lacZ reporter whereas the vast majority of the non-GC B cells do not. Homozygous mice exhibit a reduced fraction of GC B cells in the gut-associated lymphoid tissue (GALT; including Peyer's patches (PPs) and mesenteric lymph nodes (mLNs)). In addition, bic/miR-155-/- B cells exhibit deficient tumor necrosis factor (TNF) and lymphotoxin-α (LT-α) cytokine production. Homozygous mice show impaired T cell-dependent antibody responses, and their T cells show a TH2 cytokine bias (an increased percentage of interleukin-4 (IL-4) producing cells and a decreased percentage of interferon-γ (IFN-& ..... For more information please see the full phenotype on the strain data sheet
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.
013198	B6.Cg-Ptprc^a Mir223^tm1Fcam/J	Repository- Live
	In this strain, the allele replaces the entire coding region of the microRNA-223 (Mir223) gene with a frt-flanked neomycin (neo) resistance cassette, abolishing gene function. They also harbor the CD45.1 (Ly5.1 or Ptprc^a) allele rather than the CD45.2 (Ly5.2 or Ptprc^b) allele normally present in C57BL/6 mice. Homozygous miR-223^- mice are viable, fertile, and normal in size. After endotoxin challenge, these mice exhibit an increase in aspartate aminotransferase (ALT), blood urea nitrogen (BUN) and creatine kinase (CK) levels due to widespread tissue destruction, including hepatocyte necrosis and intralobular haemorrhage. They also develop inflammatory lung pathology characterized by areas of atelectasis, increased cellularity within the parenchyma, and inflammatory infiltration into the interstitium. Granulocytes from miR-223^- mice are hypermature, hypersensitive to activating stimuli, and display in ..... For more information please see the full phenotype on the strain data sheet
008684	B6.Cg-Rag1^tm1Mom Tyrp1^B-w Tg(Tcra,Tcrb)9Rest/J	Repository- Live
	These mice are hemizygous for the TRP-1 transgene Tg(Tcra,Tcrb)9Rest, homozygous for the targeted mutation Rag1^tm1Mom and homozygous for the white based brown radiation induced mutation of tyrosinase-related protein 1, Tyrp1^B-w. These mutant mice express a MHC class II-restricted TCR recognizing the endogenous melanocyte differentiation antigen minimal TRP-1 (tyrosinase-related protein 1) epitope corresponding to amino acids 113 to 127. The transgene is located on the Y chromosome in founder line 9. On a RAG-deficient background, these mice are also homozygous for the Tyrp1^B-w mutation and do not produce endogenous tyrosinase-related protein 1. This strain is a source for melanocyte reactive CD4⁺ cells from antigen-negative animals and may be useful in studies of cancer immunology and therapeutics.
016919	B6.Cg-Rag1^tm1Mom Fcgrt^tm1Dcr Tg(CAG-FCGRT)276Dcr/DcrJ	Repository- Live
	These mFcRn-/- hFcRn (276) Tg mice are homozygous for the knockout mutation of the FcRn α-chain (Fcgrt^tm1Dcr) and express a human FcRn α-chain (FCGRT) transgene. By itself, the homozygous Fcgrt KO allele mice are functionally IgG deficient. They fail to transport IgG across the neonatal gut and degrade IgG at an accelerated rate. They also exhibit a plasma albumin deficiency. While the hFcRn (276) transgene corrects the relative albumin deficiency caused by the FcRn α-chain knockout, expression of the hFcRn (276) transgene is unable to bind and protect murine IgG from degradation in FcRn α-chain null mice. Importantly, hFcRn (276) transgene expression is protective against the rapid decay rate of administered human IgG. Human antibodies engineered to have enhanced binding to FCGRT (Hu4D5-IgG1, directed against human epidermal growth factor receptor 2) exhibit a significant increase in their serum half-life (2-2.5 fold) in ..... For more information please see the full phenotype on the strain data sheet
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.
009350	B6.Cg-Tg(CDX2-cre)101Erf/J	Repository- Live
	Mice hemizygous for the CDX2P9.5-NLSCre transgene are viable and fertile, with a 9.5 kb human caudal type homeo box 2 (CDX2) promoter/enhancer sequence directing expression of a nuclear-localized Cre recombinase predominantly to colonic epithelium during late gestation and in adult tissues. Specifically, Cre recombinase expression is observed in epithelium from the distal ileum and cecum, and throughout the colon from the crypt base to the luminal surface. Cre recombinase expression is also observed throughout the caudal region of the embryo during early development. When these transgenic mice are bred with mice containing a loxP-flanked sequence, Cre-mediated recombination is expected to result in deletion of the floxed sequences in the Cre recombinase-expressing tissues of the offspring.
016241	B6.Cg-Tg(Col1a1-cre/ERT2)1Crm/J	Repository- Live
	These transgenic mice express a tamoxifen inducible Cre recombinase driven by the 2.3-kb mouse Col1a1, collagen, type I, alpha 1, promoter. The transgene insert contains a fusion product involving Cre recombinase and a mutant form of the mouse estrogen receptor ligand binding domain. The mutant mouse estrogen receptor does not bind natural ligand at physiological concentrations but will bind the synthetic ligand, 4-hydroxytamoxifen. Restricted to the cytoplasm, the Cre/Esr1 protein can only gain access to the nuclear compartment after exposure to tamoxifen. When crossed with a strain containing a loxP site flanked sequence of interest, the offspring are useful for generating tamoxifen-induced, Cre-mediated targeted deletions. Tamoxifen administration induces Cre recombination in the osteoblasts of most bones and in odontoblasts of teeth in embryonic and postnatal mice. Inducible Cre recombinase activity is detected in the osteoblasts of the long bones of the limbs a ..... For more information please see the full phenotype on the strain data sheet
005698	B6.Cg-Tg(Gfap-TK)7.1Mvs/J	Repository- Live
	Mice hemizygous for the transgenic insert are viable, normal in size, and do not display any behavioral abnormalities. Transgenic males are infertile. Proliferating cells that express the herpes simplex virus thymidine kinase (HSV-TK) transgene will metabolize ganciclovir (GCV) to toxic nucleotide analogues and undergo cell death. Transgene-derived HSV-TK is present exclusively in cells expressing endogenous Gfap. This coexpression occurs in brain astrocytes and adult neural stem cells, enteric glia, hepatic stellate cells, and unknown cells in heart, lung, kidney, adrenal, and spleen. Chronic GCV treatment for 21 days depletes GFAP-positive adult neural stem cells from forebrain proliferative zones. GCV treatment eliminated growth of primary multipotent neurospheres cultured from the germinal zones of postnatal and adult, but not early embryonic, transgenic mice. Notably, the same treatment prevented growth of secondary multipotent neurospheres from all three developmental stag ..... For more information please see the full phenotype on the strain data sheet
012902	B6.Cg-Tg(S100a4-TK)M31Egn/YunkJ	Repository- Live
	These transgenic mice express a truncated herpesvirus thymidine kinase (TK) gene under the control of the S100a4, S100 calcium binding protein A4, (also called FSP1, fibroblast-specific protein-1), promoter. The truncated TK minigene lacks the cryptic promoter between the first and second ATG of the coding sequence which is active in testes and confers male sterility. The transgene was found to be expressed in the interstitium of the kidney and transgene mRNA is expressed at higher levels in fibroblasts than in renal tubular epithelium. Dividing (proliferating) fibroblasts are selectively ablated in transgenic mice when treated with gancyclovir. Cultured primary fibroblasts from transgenic mice exhibit significant depletion 5 days after 10 mM gancyclovir treatment. Cultured renal tubular epithelium cells are not gancyclovir sensitive. Transgenic mice exhibit reduced fibrosis in experimentally induced renal obstruction. Founder line M31 contains several copies of the ..... For more information please see the full phenotype on the strain data sheet
006235	B6.Cg-Tg(SFTPC-rtTA)5Jaw/J	Repository- Live
	Mice that are hemizygous for this transgenic insert are viable, fertile, normal in size, and do not display any gross physical or behavioral abnormalities. These transgenic mice express the reverse tetracycline-controlled transactivator (rtTA) protein under the control of the human SFTPC, surfactant, pulmonary-associated protein C, promoter. In situ hybridization detects rtTA gene product (mRNA) in lung peripheral epithelial cells from adult mice and 15 postconception day aged embryos from doxycycline treated dams. Induction of transgene expression is detected as early as postconception day 12.5 when the pregnant female is treated with doxycycline. When mated to a second transgenic strain carrying a gene of interest under the regulatory control of a tetracycline-responsive promoter element (tetO), expression of the target gene may be regulated by the tetracycline analog, doxycycline (dox); in the presence of dox, transcription of the target gene is induced in cells where rtTA is ..... For more information please see the full phenotype on the strain data sheet
005657	B6.FVB(129)-Tg(Myh6-cre/Esr1*)1Jmk/J	Repository- Live
	The alpha-MHC-MerCreMer transgene has the mouse Myh6 promoter (myosin, heavy polypeptide 6, cardiac muscle, alpha; alpha-MHC) directing expression of a tamoxifen-inducible Cre recombinase (MerCreMer) to juvenile and adult cardiac myocytes. Mice homozygous for the alpha-MHC-MerCreMer transgene are viable, fertile, normal in size, and do not display any gross physical or behavioral abnormalities. Cre recombinase expression in heart tissue is confirmed by western blot. Southern blot confirmed heart cell specificity compared to brain, kidney, lung, liver, and skeletal muscle. Insertion of this transgene and its protein show no changes in echocardiography, heart mass or pathology, or hypertrophy marker genes compared to nontransgenic littermates. Of note, the MerCreMer double fusion protein has substantially greater Cre recombinase activity with less promiscuity compared with the CreMer single fusion protein. When alpha-MHC-MerCreMer transgenic mice are bred with mice containing > ..... For more information please see the full phenotype on the strain data sheet
007084	B6.FVB(Cg)-Mmp9^tm1Tvu/J	Repository- Live
	Mice that are homozygous null for the Mmp9 gene are viable and fertile. No Mmp9 activity is detected in spleen cell lysates. Long bones (tibia, femur) are 10% shorter in homozygous null mice. Histological examination of three-week-old mice reveals a dramatically lengthened zone of hypertrophic cartilage (six to eight times larger vs. wild-type) due to delayed apoptosis, vascularization, and ossification. Subsequent remodeling resolves the condition, resulting in normal appearing bones by eight weeks of age. Null mice show altered responses to repair of injury in skin, cornea, central nervous system and bone marrow reconstitution, and altered inflammatory responses. In an attempt to offer alleles on well-characterized or multiple genetic backgrounds, alleles are frequently moved to a genetic background different from that on which an allele was first characterized. It should be noted that the phenotype could vary from that originally described. We will modify the strain de ..... For more information please see the full 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.
004847	B6;129-Gt(ROSA)26Sor^{tm1(cre/ERT)Nat}/J	Repository- Live
	These R26CreER mutant mice have a tamoxifen-inducible Cre-mediated recombination system driven by the endogenous mouse Gt(ROSA)26Sor promoter. The mutant allele consists of a fusion product involving Cre recombinase and an altered version of the mouse estrogen receptor ligand binding domain. The mutant ligand binding domain does not bind natural ligand at physiological concentrations but will bind the synthetic ligand, 4-hydroxytamoxifen. Restricted to the cytoplasm, the CRE/ESR1 protein can only gain access to the nuclear compartment to mediate recombination after exposure to tamoxifen. Tamoxifen administration will also induce Cre recombination in the developing embryos of treated mothers. When crossed with a strain containing a loxP site-flanked sequence of interest, this mutant is useful for generating tamoxifen-induced, Cre-mediated targeted deletions. Homozygous mutant mice are viable, fertile, normal in size and do not display any gross physical or behavioral abnor ..... For more information please see the full phenotype on the strain data sheet
013071	B6;129-Hba^tm1(HBA)Tow Hbb^{tm2(HBG1,HBB)Tow}/Hbb^{tm3(HBG1,HBB)Tow}*/J	Repository- Live
	These mice may harbor several knockin mutations: 1) the Hba^tm1(HBA)Tow mutation (also called hα ; designed with the human hemoglobin α gene replacing the endogenous mouse α-globin), as well as 2) the Hbb^{tm2(HBG1,HBB)Tow}* mutation (also called -1400 γ-β^S ; designed with the human hemoglobin gamma (^Aγ) gene and the human sickle hemoglobin beta (β^S) gene replacing the endogenous mouse major and minor β-globin), and/or 3) the Hbb^{tm3(HBG1,HBB)Tow} mutation (also called -383 γ-β^A ; designed with the human hemoglobin gamma (^Aγ) gene and the human wildtype hemoglobin beta (β^A) gene replacing the endogenous mouse major and minor β-globin). --Of note, these mice should not harbor any wildtype allele at the Hbb* locus.--* Mice homozygous at the ..... For more information please see the full phenotype on the strain data sheet
016209	B6;129-Lrrk2^tm2.1Shn/J	Repository- Live
	Mice homozygous for the LRRK2 KO1 mutation are viable and fertile, with the promoter and exon 1 of the Lrrk2 (leucine-rich repeat kinase 2) gene deleted. No mRNA or protein expression from the targeted allele is observed in brain tissues, however and truncated mRNA signal is observed in kidney tissue. Homozygous mice do not exhibit neurodegeneration or neuropathological changes in the brain. In the kidneys, a tissue where LRRK2 is normally expressed at ~6-fold greater levels than brain, homozygous loss of LRRK2 results in renal atrophy by 20 months of age. This is accompanied by significant (~60-fold) age-dependent accumulation of aggregated α-synuclein and ubiquitinated proteins in the kidney. Specifically, homozygous KO kidneys show widely distributed cytosolic α-synuclein-immunoreactive granular aggregates (some amy also contain phospho-Ser-129 α-synuclein) or inclusions in boxy cells of renal tubules in the cortical area by 20 months of age. Other kidney ..... For more information please see the full phenotype on the strain data sheet
016210	B6;129-Lrrk2^tm3.1Shn/J	Repository- Live
	Mice homozygous for the LRRK2 KO2 mutation are viable and fertile, with exons 29-30 (encoding the first half of the Ras-like small GTPase domain) of the Lrrk2 (leucine-rich repeat kinase 2) gene deleted. No mRNA or protein expression from the targeted allele is observed in brain tissue, however some truncated mRNA is observed in kidney tissues. Homozygous mice do not exhibit neurodegeneration or neuropathological changes in the brain. In the kidneys, a tissue where LRRK2 is normally expressed at ~6-fold greater levels than brain, homozygous loss of LRRK2 results in renal atrophy by 20 months of age. This is accompanied by significant (~60-fold) age-dependent accumulation of aggregated α-synuclein and ubiquitinated proteins in the kidney. Specifically, homozygous KO kidneys show widely distributed cytosolic α-synuclein-immunoreactive granular aggregates (some of them may also contain phospho-Ser-129 α-synuclein) or inclusions in boxy cells of renal tubules in ..... For more information please see the full phenotype on the strain data sheet
012603	B6;129-Tgfbr2^tm1Karl/J	Repository- Live
	These TβRII floxed mutant mice possess loxP sites flanking exon 4 of the targeted gene. Mice that are homozygous for this allele are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. When these mutant mice are bred to mice that express Cre recombinase, resulting offspring will have exon 4 deleted in cre-expressing tissues. This strain may be useful for studying the cellular and mechanical role of TGF-β in regulating development, hematopoiesis, wound healing, and immune function. For example, when crossed to a strain expressing Cre recombinase in the neural tube, midbrain and dorsal spinal cord (see Stock No. 007807), this mutant mouse strain may be useful in studies of DiGeorge syndrome. For example, when crossed to a strain expressing interferon inducible Cre recombinase (see Stock No. > ..... For more information please see the full phenotype on the strain data sheet
014635	B6;129S-Nr1h2^tm1Djm/J	Repository- Live
	In this strain, maintained on a mixed C57BL/6 x 129S6 background, a neomycin (neo) resistance cassette replaces exons 5-6 of the nuclear receptor subfamily 1, group H, member 2 (Nr1h2) gene, abolishing gene function. Homozygous are viable, fertile, and normal in size. Also known as liver X receptor beta (Lxrβ), Nr1h2 binds to retinoid X receptors (RXRα, RXRβ, RXRγ; NR2B1, NR2B2, and NR2B3) and is activated by oxysterols to regulate the expression of genes involved in cholesterol metabolism. Homozygous Lxrβ^-/- mice lose their ability to appropriately regulate cholesterol, lipid, and carbohydrate metabolism, and have defects in immune function. These defects are more severe when combined with the knockout of Lxrα (available as Stock No. 013763). These mice may be useful for studying lipid and cholesterol metabolism, and the regulation of the immune r ..... For more information please see the full phenotype on the strain data sheet
010722	B6;129S1-Snai2^tm2Grid/J	Repository- Live
	Mice that are homozygous for the targeted mutation are viable, subfertile, and are smaller in size than wildtype controls. Homozygotes have diluted coat color and areas of depigmentation, sometimes exhibiting white forehead blaze and spots on tails and feet. From birth to weaning age (approximately 3 weeks), homozygotes exhibit slowed growth rate and by 3 weeks of age weigh approximately 70% of wildtype control. After weaning, mutant growth rates are similar to wildtype, but mutants remain small in size. Homozygous adults develop eye infections (suppurative conjunctivitis and blepharitis). Homozygous males have reduced testes size due to reduced seminiferous tubules and are slightly subfertile, producing smaller litters sizes. Approximately 15% of homozygous males are infertile. Spermatogenesis is normal, however, in fertile homozygotes. Homozygotes exhibit macrocytic anemia, decreased hematocrit and leukocyte numbers. T cell differentiation is impaired and thymus size is dimi ..... For more information please see the full phenotype on the strain data sheet
003374	B6;129S2-H2^dlAb1-Ea/J	Repository- Live
	Mice that are homozygous null for MHC class II genes H2-Ab1, H2-Aa, H2-Eb1, H2-Eb2, H2-Ea are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. MHC class II gene products (mRNA or protein) are not detected. A dramatic decrease is observed in the number of CD4 positive T cells in thymus, spleen and lymph nodes. This strain should serve as a suitable recipient of xenogenic Class II MHC transgenes allowing the engineering of mouse models of human MHC Class II-associated diseases.
002254	B6;129S2-Il6^tm1Kopf/J	Repository- Live
	Mice homozygous for the targeted mutation are viable and fertile. No gene product (mRNA) is detected by RT-PCR analysis of lipopolysaccharide (LPS) challenged macrophages. Bioassay and enzyme-linked immunosorbent assay (ELISA) analysis of serum from LPS-challenged homozygotes reveals no detectable protein activity. These interleukin 6 (IL6) mutant mice show defects in responses to various viruses and in inflammatory responses to tissue damage or infection. Of note, IL6-mutant mice may be available on different genetic backgrounds including mixed B6;129S2 (Stock No. 002254), C57BL/6J (Stock No. 002650), and BALB/cByJ (Stock No. 001026).
004669	B6;129S2-Itgb3^tm1Hyn/J	Repository- Live
	Mice that are homozygous for this targeted allele are viable and fertile. No gene product (protein) is detected on the surface of platelets. Significant (50%) embryonic lethality attributed to fetal hemorrhaging and placental defects is observed. Until three weeks of age, additional pup loss may occur due to hemorrhaging in the skin and gastrointestinal tract. Gastrointestinal tract bleeding is commonly observed in adults and is frequently associated with an enlarged spleen. Erythrocyte number, hemoglobin, hematocrits and thrombus formation are all reduced while bleeding time is prolonged. Varying degrees of liver and kidney necrosis are also observed. Although increased numbers of osteoclasts are observed (3.5 fold over that seen in heterozygotes) they appear to be dysfunctional, having a reduced ability to resorb whale dentin in vitro. Mice are osteosclerotic and hypocalcemic. Enhanced tumor angiogenesis and vascular endothelial growth factor-induced blood vessel growth are observed. ..... For more information please see the full phenotype on the strain data sheet
002785	B6;129S4-E2f1^tm1Meg/J	Repository- Live
	Mice homozygous for defective E2f1 are viable and fertile. They show thymocyte maturation defects due to a failure of apoptosis, eventually resulting in increased proliferation and increased tumorigenesis. As mutant mice age, they show exocrine gland dysplasia and testicular atrophy. Mutant mice develop a broad spectrum of cancers, although mammary carcinomas were not observed on this genetic background. Mutant mice are also protected from experimental autoimmune encephalomyelitis (EAE). These mice may be useful in studies of apoptosis, cancer, thymocyte development/selection, diabetes, autoimmunity, and multiple sclerosis.
012463	B6;129S4-Foxd1^{tm1(GFP/cre)Amc}/J	Repository- Live
	Heterozygous mice are viable and fertile, normal in size and do not display any gross physical or behavioral abnormalities. The DI states that the strain is homozygous lethal. The FoxD1^GC allele expresses an eGFPCre fusion protein (EGFP and cre fusion protein) from the Foxd1 promoter/enhancer elements. When Foxd1 is induced, EGFP immunofluorescence is observed during kidney development in metanephric mesenchyme in cells fated to become stromal cells of the kidney. When FoxD1^GC mice are bred with mice containing loxP-flanked sequence, Cre-mediated recombination will result in deletion of the floxed sequences in the Foxd1-expressing cells of the offspring. These mice may be useful for studying therapeutic strategies directly targeting pericyte differentiation in vivo and may productively impact fibrotic kidney disease.
012464	B6;129S4-Foxd1^{tm2(GFP/cre/ERT2)Amc}/J	Repository- Live
	Heterozygous mice are viable and fertile, normal in size and do not display any gross physical or behavioral abnormalities. The DI states that the strain is homozygous lethal. The Foxd1^GCE allele expresses an eGFPCreER^T2 fusion protein (EGFP and creERT2 fusion protein) from the Foxd1 promoter/enhancer elements. Foxd1 is induced, and EGFP immunofluorescence is observed, during kidney development in metanephric mesenchyme in cells fated to become stromal cells of the kidney. Cre-ER^T2 fusion gene activity is inducible; observed in the same cells only following tamoxifen administration. When Foxd1^GCE mice are bred with mice containing loxP-flanked sequence, tamoxifen-inducible, Cre-mediated recombination will result in deletion of the floxed sequences in the FoxD1-expressing cells of the offspring. These mice may be useful for studying therapeutic strategies directly targeting pericyte differen ..... For more information please see the full phenotype on the strain data sheet
008154	B6;129S4-Ppara^tm1Gonz/J	Repository- Live
	Mice homozygous for the targeted mutation are viable and fertile. An altered response to a group of compounds (peroxisome proliferators) that induce peroxisome proliferation and hepatocarcinogenesis is observed. No peroxisome proliferation response is detected when these mice are challenged with classical peroxisome proliferators. Typically, such a response includes hepatomegaly, peroxisome proliferation and transcriptional activation of a set of target enzyme genes. Accumulation of lipid droplets observed in liver tissue suggests that Ppara is involved in maintaining the homeostasis of hepatic lipid metabolism. Homozygotes exhibit increased gonadal adipose tissue stores, abnormal epidermal development and delayed wound healing. This mutant mouse strain may be useful in studies of lipid metabolism, cell proliferation, diabetes, obesity, and wound healing.
002096	B6;129S7-Rag1^tm1Mom/J	Repository- Live
	Mice homozygous for the Rag1^tm1Mom mutation produce no mature T cells or B cells. Their phenotype can be described as a "non-leaky" severe combined immune deficiency (Prkdc^scid/Prkdc^scid) (Prkdc^scid mice produce some B cells and IgM). They have no CD3⁺ or T cell receptor (TCR) alpha-beta positive cells. The thymus of the mutant mice contains 15 to 130 times fewer cells than heterozygous or wildtype siblings. The thymocytes are CD8^-CD4^- and most are IL2 receptor positive. Neither the spleen nor bone marrow contain any IgM or IgD staining cells, indicating an absence of mature B cells. These and other data suggest that B cell and T cell development has been arrested at an early stage. Macroscopically, the mutants are indistinguishable from heterozygotes or normal wildtype siblings.
013038	B6;129S7-Smad5^tm1Zuk/J	Repository- Live
	In this strain, the allele replaces exon 2 of the endogenous MAD homolog 5 (Smad5) gene with a PGK-hprt selection cassette, abolishing gene function. Mice homozygous for the Smad5 allele have an embryonic lethal phenotype and do not survive past E11.5. Heterozygous mice are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. Homozygous embryos lack ectopic vasculogenesis and hematopoiesis in the amnion, lack both a foregut pocket and entrance to the hindgut diverticulum, and are absent of primordial germ cells. The allantois is fused to the chorion and is not elongated. These embryos also exhibit a defect in heart looping and embryonic turning associated with Left-right asymmetry. At later stages, mutant embryos have craniofacial and neural tube abnormalities, are edematous, and after E9.0 the yolk sacs contain red blood cells but still lack well organized vasculature. These mice may be useful for studying ventrolateral morpho ..... For more information please see the full phenotype on the strain data sheet
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
010803	B6;FVB-Tg(Adipoq-cre)1Evdr/J	Repository- Live
	Mice hemizygous for this Adipoq-Cre BAC transgene are viable and fertile, with expression of a Cre recombinase directed to adipose tissue by the promoter/regulatory regions of the mouse adiponectin (Adipoq) locus on the BAC transgene. Transcription/translation from the BAC Adipoq locus is disabled, and Cre recombinase expression levels are similar to that of endogenous Adipoq expression. These mice express Cre recombinase effectively in white adipose tissue (WAT) and brown adipose tissue (BAT), but not in macrophages (including adipose-tissue resident macrophages, alveolar macrophages, or thioglycollate-stimulated peritoneal macrophages). The donating investigator reports highly efficient Cre recombinase activity, with no ectopic expression. The phenotype of homozygous mice was not determined by the donating investigator. These Adipoq-Cre BAC transgenic mice may be useful in generating conditional mutations for studying adipose tissue function and storage, obesity, ..... For more information please see the full phenotype on the strain data sheet
012944	B6;SJL-Il6ra^tm1.1Drew/J	Repository- Live
	These Il6ra^fl/fl mutant mice possess loxP sites flanking exons 4-6 of the interleukin 6 receptor alpha chain (Il6ra) gene. Mice that are homozygous for this allele are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. When bred to mice that express tissue-specific Cre recombinase, resulting offspring lack detectable Il6ra in the cre-expressing tissues. This strain may be useful for studying the role of Il6 in immune response, re-epithelialization, angiogenesis, macrophage infiltration, and wound healing. For example, when bred to a strain expressing Cre recombinase in the myeloid cell lineage (see Stock No. 004781 for example), this mutant mouse strain may be useful in studies of inflammation and wound healing. When bred to a strain expressing Cre recombinase in liver (see Stock No. For more information please see the full phenotype on the strain data sheet
008850	B6;SJL-Tg(Mt1-LDLR)93-4Reh/AgnJ	Repository- Live
	Mice hemizygous for this MMT-I-hLDLR transgene (hLDLRTg mice) are viable and fertile, with human low density lipoprotein receptor (hLDLR) expression controlled by the mouse metallothionein 1 gene (Mt1) promoter sequences. The donating investigator reports that homozygous mice are not viable. Expression of hLDLR mRNA is highest in liver, moderate in kidney, small intestine, and heart, and lowest in brain and pancreas. Treatment with cadmium sulfate (CdSO4) stimulates transcription from the metallothionein promoter and results in higher levels of hLDLR expression. This overexpression of functional LDLR in transgenic mice results in greatly increased clearance of LDLR ligands (LDL, apoprotein B-100 and apoprotein E) from plasma when compared to wild-type mice. These hLDLRTg mice may be useful for studying the role of apolipoproteins and their receptors, lipid transport and lipoprotein metabolism in a wide variety of disease (including atherosclerosis, Alzheimer's disease, and hepat ..... For more information please see the full phenotype on the strain data sheet
014170	B6N.Cg-Tg(UGT1A1*28)1Rhtu/J	Repository- Live
	Transgenic UGT1A128* mice carry the entire human uridine diphosphate (UDP) glucuronosyltransferase 1 (UGT1) locus, and includes a mutant form of the human UGT1 polypeptide A1 (UGT1A1) promoter. Hemizygous mice are viable, fertile, and normal in size. The UGT1 locus encodes a family of genes, including UGT1A1-UGT1A10. UGT1 contains a series of divergent exon 1 sequences, each encoding the substrate binding site of a different UGT1A protein, and exons 2-5 which encode the highly conserved carboxyl terminal. Each exon 1 is regulated by its own promoter/enhancer sequences. The UGT1A128* mutation is associated with hepatic dysfunction and increased bilirubin found in Gilbert's syndrome. UGTs detoxify small lipophilic molecules and transform them into hydrophilic glucuronides, facilitating excretion. UGT1A128* transgenic mice express human UGT1A genes in patterns similar to the human tissues, mainly in tissues such as ..... For more information please see the full phenotype on the strain data sheet
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
012924	B6N;129-Egr1^tm1Jmi/J	Repository- Live
	In this strain a coding exon upstream of the DNA-binding domain of the early growth response 1 (Egr1) gene is replaced with a neo cassette, abolishing gene function. Homozygous Egr1^-/- mice are viable and normal in size. Homozygous females are sterile, are absent of corpora lutea, and display a 30% reduction in the weight of the uterus. These mice exhibit an impaired inflammatory response, impaired wound healing, and attenuated dermal fibrosis after TGF-β or bleomycin stimulation. Macrophages from Egr1^-/- mice showed reduced TNF-α secretion when stimulated with TGF-β. These mice may be useful for studying carcinogenesis, inflammation, atherosclerosis, scleroderma, ischemic injury, tissue repair, fibrosis, matrix remodeling and wound healing.
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.
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.
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
004333	C.129P2(B6)-Il10^tm1Cgn/J	Repository- Live
	Mice homozygous for the Il10^tm1Cgn targeted mutation are viable and fertile when housed under specific pathogen free (SPF) conditions. Under conventional housing conditions, Il10-deficiency is associated with altered lymphocyte and myeloid profiles, elevated serum amyloid A levels, altered responses to inflammatory or autoimmune stimuli (both endogenous and induced), increased prevalence of colorectal adenocarcinoma (especially on 129/Sv and, to a lesser extent, BALB/c genetic background), and spontaneous development of chronic enterocolitis (see below). As The Jackson Laboratory Repository maintains these mice at high health status conditions (high SPF), the observed or experimentally-induced Il10-deficient phenotype may vary from that previously published using mice from conventional mouse rooms. These IL-10 mutant mice may be useful studying inflammatory bowel disease (IBD) (Crohn's disease (CD) and/or colitis), cancer, innate and adaptive immunity, a ..... For more information please see the full phenotype on the strain data sheet
002724	C.129S2(B6)-Cxcr2^tm1Mwm/J	Repository- Live
	Mice homozygous for the this targeted mutation are viable and fertile although the reproductive rate is lower than normal wildtype siblings. Homozygous mutant mice have splenomegaly, lymphadenopathy, and impaired neutrophil migration. Formerly referred to as Cmkar2, chemokine (C-X-C) receptor 2; also called Il8r, interleukin 8 receptor.
013133	C.129S6(Cg)-Npsr1^tm1Bhk/J	Repository- Live
	In this strain, exon 4 of the endogenous neuropeptide S receptor 1 (Npsr1 or GPRA) gene is replaced with a neo cassette, abolishing ligand binding function. Homozygous (GPRA^-/-) mice are viable, fertile, normal in size, and do not display any gross physical or behavioral abnormalities. GPRA^-/- mice on a 129/SvEv genetic background show an attenuated response when challenged with the cholinergic receptor-dependent bronchoconstricting agent thromboxane. These GPRA mutant mice may be useful for studying the induction of asthma-like disease, smooth muscle constriction, and airway function. In an attempt to offer alleles on well-characterized or multiple genetic backgrounds, alleles are frequently moved to a genetic background different from that on which an allele was first characterized. It should be noted that the phenotype could vary from that originally described. We will modify the strain description if necessary as published results become avai ..... For more information please see the full phenotype on the strain data sheet
008701	C.129X1(B6)-Ebi3^tm1Rsb/J	Repository- Live
	Mice homozygous for this Ebi3-mutant allele are viable and fertile with the donating investigator reporting no overt autoimmunity or inflammatory disease associated with the mutation. No RNA from the targeted gene is observed in splenocytes isolated from homozygotes. Ebi3-deficiency leads to impaired T_reg activity with failure to control homeostatic proliferation. Homozygotes exhibit decreased numbers and function of invariant natural killer T cells (iNKT); stimulated iNKT cells show impaired IL-4 production both in vivo and in vitro. Homozygotes are resistant to oxazolone-induced colitis (mediated primarily by T helper (Th) 2-type cytokine production by iNKT cells), whereas Ebi3-deficiency shows no affect on trinitrobenzene sulfonic acid-induced colitis (a predominantly Th1-mediated colitis model). These Ebi3-mutant strains may be useful in studying T_reg function, IL12 heterodimeric cytokines (such as IL-35 and IL-27) and IFNgamma production, and Th ..... For more information please see the full phenotype on the strain data sheet
002802	C3.BLiA Pde6b⁺-Krd/J	Repository- Live
	This is a semidominant, homozygous lethal mutation.
013080	C57BL/6-Actb^{tm3.1(Sirt1)Npa}/J	Repository- Live
	Mice that are heterozygous for the targeted mutation are viable, exhibit delayed reproduction and lower body weight. No homozygotes are produced from heterozygous crosses. Fewer than expected heterozygotes are produced from heterozygote X wildtype crosses. Overexpression of gene product (protein) is detected by Western blot analysis of white adipose tissue, brown adipose tissue, MEFs, skull calvaria cells and brain tissue. Overexpression of the protein is not detected in liver or muscle tissue. Fusion gene product (mRNA) is detected in white adipose tissue by Northern blot analysis. Beta-actin protein expression is equivalent to wildtype levels. Heterozygote knock-in mice have reduced fat mass (epididymal fat pad weight), circulating free fatty acids, leptin, adiponectin and total cholesterol. Food consumption, glucose tolerance and metabolic rate (with associated higher oxygen consumption) are increased in the mutant mice. In fasted conditions, heterozygotes have lower circul ..... For more information please see the full phenotype on the strain data sheet
014557	C57BL/6-Plau^tm1.1Bug/J	Repository- Live
	These mice carry 6 nucleotide substitutions in exon 4 that result in 4 amino acid substitution mutations (Y23N, R28N, R30H, and R31W) and abolish binding interaction of the protein with its receptor: plasminogen activator, urokinase receptor (uPAR). Homozygous mutant mice express a mutant urokinase plasminogen activator protein with a 400 fold reduction in affinity to the mouse urokinase plasminogen activator receptor and a binding affinity to human urokinase plasminogen activator receptor that is similar to endogenous human PLAU affinity. The mutant protein is functional, with homozygotes exhibiting normal skin wound healing. Mice that are homozygous for the targeted mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. The nucleotide substitutions were confirmed by sequence analysis. Levels of gene product (mRNA and protein) expression are normal as detected by qPCR or Western blot analysis. Homozygotes exhibit 2.5 fold ..... For more information please see the full phenotype on the strain data sheet
008309	C57BL/6-Rag2^tm1Cgn/J	Repository- Live
	Mice homozygous for the RAG-2^fl allele are viable and fertile, with loxP sites flanking exon 3 of the targeted gene. When bred to mice that express Cre recombinase, the resulting offspring will have this region (coding for the entire RAG-2 protein) deleted in the cre-expressing tissue(s). These RAG-2^fl mice may be useful in generating conditional mutations for studying the role of RAG-2 in B and T cell development (including cancer and toxicology research as a xenograft/transplant host), T and B cell receptor (V(D)J) recombination, hematopoiesis, hematology, immunology, and inflammation research. For example, when bred to a strain with inducible Cre recombinase expression in liver and lymphocytes (see Stock No. 003556), this mutant mouse strain may be useful in studies of B and T cell development.
012810	C57BL/6J-Enpp1^asj/GrsrJ	Repository- Live
	Homozygotes initially appear normal but by 2 months of age they hold their forepaws closer to the body and develop a slow hobbling gait due to joint calcification. Moderate to severe hearing loss is found by 3 months of age. Homozygotes may breed, but the ability to breed and maintain a litter is curtailed by progressive physical disability.
005061	C57BL/6J-Ldlr^Hlb301/J	Repository- Live
	Mice that are homozygous for the mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. This single base pair G to A transition mutation in exon 14, nucleotide 2096 was induced by ENU mutagenesis. The "Wicked High Cholesterol" (WHC) phenotype was mapped to the Ldlr, low density lipoprotein receptor, gene. Although total plasma cholesterol levels do not differ between sexes, when fed a standard chow diet for 5 weeks, homozygous WHC males exhibit higher triglyceride and HDL levels than homozygous WHC females. When fed Western diet for 5 weeks, mutant WHC males exhibit higher HDL levels than female WHC mutants. When fed an atherogenic diet for 5 weeks, WHC homozygotes of both sexes develop elevated total cholesterol levels of more than a 4 fold increase when compared to WHC homozygotes on standard chow diet. Cholesterol and HDL levels of WHC homozygotes fed atherogenic diet for 5 weeks remain elevated 1 month after resum ..... For more information please see the full phenotype on the strain data sheet
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
009345	C57BL/6J-Mstn^lean/J	Repository- Live
	Mice homozygous for this ENU-induced mutation, called the lean (Ln) allele of myostatin (Mstn^Ln), are viable and fertile. The Mstn^Ln allele alters mRNA splicing and results in an additional larger transcript containing a 128 basepair insert at the junction between exons 2 and 3. This insertion encodes an additional 4 amino acids before a premature stop codon (ASDNX), and is predicted to generate a truncated protein containing the Mstn signal sequence and propeptide, but lacking the ligand portion of the molecule. In addition to this abnormal splicing product, the mRNA from mutant males is also reduced in abundance by approximately 60% compared to wildtype males. When maintained on normal diet, homozygous (Mstn^Ln/Ln) mice exhibit increased muscularity. When maintained on a high fat diet, homozygotes exhibit glucose tolerance, protection against overall insulin resistance, improved muscle and liver insulin sensitivity (with decreased ..... For more information please see the full phenotype on the strain data sheet
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
016131	C57BL/6J-Sec61a1^m1Gek/J	Repository- Live
	Mice homozygous for the ENU-induced missense mutation, called Sec61a1^Y344H, are viable and fertile. By ~4 weeks of age, homozygous males and females maintained on a high-fat diet (~58% kcal from fat) become diabetic (hyperglycemic) with hypoinsulinemia; the result of endoplasmic reticulum (ER) stress-induced apoptosis of pancreatic β-cells. In addition to diabetes, these mice exhibit other metabolic, endocrinological, and growth abnormalities (including hyperlipidemia, hepatosteatosis, hypercholesterolemia, hypertriglyceridemia, and, in older mice, hepatic cirrhosis). Homozygous mice maintained on a chow diet (~5% kcal from fat) become diabetic by ~10 weeks of age; exhibiting hyperglycemia, hypoinsulinemia, glucose intolerance, and pancreatic β-cell loss. Heterozygous mice have an intermediate hypoinsulinemic phenotype on high-fat diet. These Sec61a1^Y344H mutant mice may be useful in studying diabetes, ER protein trafficking/processing/sec ..... For more information please see the full phenotype on the strain data sheet
016211	C57BL/6N-Agtr1a^tm1Uky/J	Repository- Live
	These AT1a^flox mutant mice possess a loxP site upstream of exon 3 followed by a neomycin resistance (neo) cassette flanked by frt sites and loxP sites downstream of exon 3 of the angiotensin II receptor, type 1a (Agtr1a) gene. Mice that are homozygous for this allele are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. AGTR1A is expressed in vascular cells such as endothelial cells, smooth muscle cells, and macrophages. Angiotensin II (Ang II) is a vasoconstrictor which, upon binding to AGTR1A, can induce aneurysms in the ascending aorta. When bred to mice that express tissue-specific Cre recombinase, resulting offspring will have exon 3 deleted in the cre-expressing tissues. When this floxed strain is crossed to a strain expressing Cre recombinase in smooth muscle, deletion of Agtr1a had no affect on ascending aortic aneurysms (AA) after Ang II infusion. In contrast, when cr ..... For more information please see the full phenotype on the strain data sheet
014595	C;129S4-Rag2^tm1.1Flv Csf2/Il3^{tm1.1(CSF2,IL3)Flv} Il2rg^tm1.1Flv/J	Repository- Live
	This compound mutant strain carries deletions in the mouse Rag2 and X-linked Il2rg genes in addition to targeted replacements of mouse Il3 (interleukin 3) and Csf2 (colony stimulating factor 2 (granulocyte-macrophage); GM-CSF) coding regions with those of human. Homozygotes develop pulmonary alveolar proteinosis and are susceptible to opportunistic lung infections due to a defect in the terminal differentiation of alveolar macrophages (similar to Csf2-deficient mice). The concentration level and tissue distribution pattern of both human IL3 and CSF2 expression mimic those of the mouse genes. The Rag2 and Il2rg mutations create an immunodeficiency in which T, B, and NK cells are lacking. These mice are particularly useful as graft/transplant hosts that support human myeloid cell reconstitution and function as well as human innate immune responses to pathogens. The creation of this strain was funded by the Bill and Mel ..... For more information please see the full phenotype on the strain data sheet
012845	CBy.129S7(B6)-Ldlr^tm1Her/J	Repository- Live
	In the BALB.LDLR^-/- strain, a neomycin (neo) selection cassette is inserted in exon 4 of the low density lipoprotein receptor (Ldlr) gene, abolishing endogenous gene function. Homozygous mice are viable, fertile, appear normal in size, and do not display any gross physical or behavioral abnormalities. On a 4% diet, BALB.LDLR^-/- mice have increased cholesterol (~200 mg/dl), increased triglycerides (~170mg/dl), and increased blood glucose (122 mg/dl) as compared with wildtype (WT). When moved onto a 21% fat diet these mice have cholesterol levels of 572 mg/dl, triglyceride levels of 180mg/dl, and blood glucose levels of 141 mg/dl. They exhibit renal injury, tubulointerstitial injury, and an increase in interstitial macrophages, and an increase in blood urea nitrogen when challenged with hyperlipidemia and hyperglycemia. When injected with Streptozotocin these mice also exhibit atherosclerotic lesions, aortic sinus lesions, and aortic fatty streak lesions ..... For more information please see the full phenotype on the strain data sheet
007082	CByJ.129S(B6)-Tnf^tm1Gkl/J	Repository- Live
	Mice homozygous for the Tnf^tm1Gkl targeted mutation are viable and fertile. Development of both lymph nodes and Peyer's patches is normal, and homozygous mutant mice show no apparent phenotypic abnormalities. Homozygous mice completely lack splenic primary B cell follicles and cannot form organized follicular dendritic cell networks and germinal centers. TNF-deficient mice treated to induce skin carcinogenesis develop significantly less benign and malignant tumors than treated wildtype mice. Nonobese homozygous mutant mice show modest decreases in body weight, epididymal fat depot weight, and percent body fat (statistically significant in males at 28 weeks of age). Further characterization indicates that 28 week old male mutant mice display lower insulin, triglyceride, and leptin levels compared to wildtype controls. Characterization of TNF deficient homozygotes injected with gold-thioglucose (GTG) to induce hyperphagic obesity indicates that the presence of TNF does ..... For more information please see the full phenotype on the strain data sheet
007078	CByJ.129S2(B6)-Il6^tm1Kopf/J	Repository- Live
	Mice homozygous for the targeted mutation are viable and fertile. No gene product (mRNA) is detected by RT-PCR analysis of lipopolysaccharide (LPS) challenged macrophages. Bioassay and enzyme-linked immunosorbent assay (ELISA) analysis of serum from LPS-challenged homozygotes reveals no detectable protein activity. These interleukin 6 (IL6) mutant mice show defects in responses to various viruses and in inflammatory responses to tissue damage or infection. Of note, IL6-mutant mice are available on different genetic backgrounds including mixed B6;129S2 (Stock No. 002254), C57BL/6J (Stock No. 002650), and BALB/cByJ (Stock No. 007078). 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 phe ..... For more information please see the full phenotype on the strain data sheet
007068	D2.129S7(B6)-Ldlr^tm1Her/J	Repository- Live
	Mice homozygous for the Ldlr^tm1Her mutation have an elevated serum cholesterol level of 200-400 mg/dl and they have very high levels (>2,000 mg/dl) when fed a high fat diet. Normal serum cholesterol in the mouse is 80-100 mg/dl. This mutant mouse strain may be useful in studies of lipid and leptin homeostasis, hyperglycemia, hypercholesterolemia, atherosclerosis, and the effects of diet on skin and coat. 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.
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
010814	D2;B6-Ldlr^Hlb301/J	Repository- Live
	Mice that are homozygous for the mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. This single base pair G to A transition mutation in exon 14, nucleotide 2096 was induced by ENU mutagenesis. The "Wicked High Cholesterol" (WHC) phenotype was mapped to the Ldlr, low density lipoprotein receptor, gene. Although total plasma cholesterol levels do not differ between sexes, when fed a standard chow diet for 5 weeks, homozygous WHC males exhibit higher triglyceride and HDL levels than homozygous WHC females. When fed Western diet for 5 weeks, mutant WHC males exhibit higher HDL levels than female WHC mutants. When fed an atherogenic diet for 5 weeks, WHC homozygotes of both sexes develop elevated total cholesterol levels of more than a 4 fold increase when compared to WHC homozygotes on standard chow diet. Cholesterol and HDL levels of WHC homozygotes fed atherogenic diet for 5 weeks remain elevated 1 month after resum ..... For more information please see the full phenotype on the strain data sheet
017319	FVB-Tg(Myh6-Mtpn)4Ssen/J	Repository- Live

016571	FVB-Tg(Myh6/tetO-Gata6)2Jmol/J	Repository- Live
	These Gata6 transgenic mice contain the GATA binding protein 6 (Gata6) sequence regulated by a tetracycline operator (tetO), driven by myosin, heavy polypeptide 6, cardiac muscle, alpha (Myh6 or α-MHC) promoter/enhancer elements. Hemizygotes are viable, fertile, and normal in size. α-MHC limits overexpression of GATA6 to the heart. GATA6 is a zinc-finger-containing transcription factor expressed in mesoderm and endoderm derived tissues such as heart, liver, lung, gonad, and gut. Along with GATA4, GATA6 is necessary for the development of the embryonic heart and cardiac hypertrophy in the adult heart. When mated to a mutant strain expressing tetracycline-controlled transactivator protein (tTA), expression of GATA6 protein may be regulated with tetracycline or its analog doxycycline (dox) in the double mutant offspring. When bred to mice expressing tTA driven by the α-MHC promoter, double transgenic an ..... For more information please see the full phenotype on the strain data sheet
014153	FVB-Tg(Myh6/tetO-Itpr2)3.11Jmol/J	Repository- Live
	These transgenic animals carry the mouse Itpr2 (inositol 1,4,5-triphosphate receptor 2) gene driven by a conditional Myh6 (myosin, heavy polypeptide 6, cardiac muscle, alpha)-tetO cardiac-specific promoter. When crossed with a driver strain encoding the tetracycline transactivator (tTA), a 12-fold increase in protein expression is observed. Overexpression in the heart generates mild baseline cardiac hypertrophy at 3 months of age, but no greater signs of heart disease past 10 months of age. Increased hypertrophic response occurs following pathological/physiological stimuli.
014154	FVB-Tg(Myh6/tetO-Itpr2)4.9Jmol/J	Repository- Live
	These transgenic animals carry the mouse Itpr2 (inositol 1,4,5-triphosphate receptor 2) driven by a conditional Myh6 (myosin, heavy polypeptide 6, cardiac muscle, alpha)-tetO cardiac-specific promoter. When crossed with a driver strain encoding the tetracycline transactivator (tTA), a 5-fold increase in protein expression is observed. No phenotype is observed at baseline, but increased hypertrophic response occurs following certain types of stumuli. Administration of doxycline (Dox) causes near complete extinguishment of ITPR2 expression.
008311	FVB.129S2(B6)-Hmox1^tm1Poss/J	Repository- Live
	Mice that are homozygous for this targeted mutation are slightly smaller in size than wildtype littermates and exhibit poor grooming and hypoactivity. As early as 20 weeks of age, homozygotes develop anemia with diminished serum iron and increased serum ferritin. Histological analysis reveals iron accumulation in kidney and liver. Elevated oxidized proteins and lipid peroxidation develop in the liver and kidney. Homozygotes develop progressive chronic inflammatory disease, including enlarged spleen and lymph nodes, inflammatory infiltrates, glomerulonephritis, fibrosis. Homozygous male mice have smaller testis than wildtype controls. Homozygotes occur at a lower than expected frequency, or are not produced, from heterozygous crosses and have decreased postnatal survival. An almost undetectable abnormal gene product (mRNA) is detected by Northern blot analysis of total splenic RNA. This mutant mouse strain may be useful in studies of hemochromatosis, inflammation and iron meta ..... For more information please see the full phenotype on the strain data sheet
006206	FVB.129S6-Gt(ROSA)26Sor^{tm2(HIF1A/luc)Kael}/J	Repository- Live
	Mice heterozygous for this "ODD-luc" knock-in are viable and fertile with no gross phenotypic or behavioral abnormalities. These mice have the C-terminal portion of the hypoxia-inducible factor 1 alpha (HIF1A) oxygen-dependent degradation domain (ODD) fused to the firefly luciferase (luc) gene. This region of the ODD also contains a proline residue (amino acid 564) that, when hydroxylated, will serve as a binding site for von Hippel-Lindau tumor suppressor protein (pVHL). Under normal oxygen concentrations, prolyl hydroxylation by egg-laying-defective nine (EGLN) proteins leads to pVHL-dependent polyubiquitylation and proteasomal degradation (thus, little or no luciferase fluorescence). Under hypoxia, proline hydroxylation is impaired and ubiquitination is attenuated, resulting in stabilization of the fusion protein and high levels of luciferase fluorescence in the hypoxic tissue(s). These "ODD-Luc" bioluminescent reporter mice may be useful in researching transcriptional ..... For more information please see the full phenotype on the strain data sheet
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
012460	FVB/N-Tg(Myh6-Gnaq)40Gwd/J	Repository- Live
	Mice hemizygous for the Myh6-Gnaq allele are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. The donating investigator states that hemizygous females develop peripartum cardiomyopathy. Expression of Gαq is regulated by an α-myosin heavy chain (Myh6) promoter, which leads to overexpression of Gαq in the heart. This overexpression results in cardiac hypertrophy, defined as a conserved program of fetal gene expression, increased heart weight, and increased cardiomyocyte size, which severely compromises systolic cardiac function, and results in overt cardiac failure. Upon experimental pressure overloading, the mice progress rapidly to heart failure. These mice may be useful for studying the biochemical and physiologic phenotype resembling both the compensated and decompensated phases of human cardiac hypertrophy.
012370	FVB/NJ-Tg(Hspa1a-luc,-EGFP)2Chco/J	Repository- Live
	Hemizygous FVB.Hsp70-luc-2A-eGFP (or Hsp70A1-L2G) transgenic mice are viable and fertile, with expression of firefly luciferase and enhanced green fluorescent protein directed by the mouse Hsp70A1 promoter (from the mouse Hspa1a locus). Following cellular stress, both eGFP fluorescence and luciferase expression may be detected in those cells (note that the luciferin substrate is needed for in vivo bioluminescence imaging (BLI)). As heat shock protein (Hsp) expression correlates with a cytoprotective effect in cultured cells and with improved healing of damaged tissues in vivo, these Hsp70A1-L2G transgenic mice may be useful as a rapid luciferase/fluorescent indicator of cellular stress (such as thermal, burn, or laser tissue injury), cell survival, and wound healing. Of note, the donating investigator reports choosing Hsp70A1-L2G mice with high eGFP fluorescence or high luciferase activity to use for breeding (and therefore the colony may have multiple in ..... For more information please see the full phenotype on the strain data sheet
003127	FVB;129P2-Bcl3^tm1Ver/J	Repository- Live
	Mice homozygous for the Bcl3 targeted mutation are viable and fertile and display no alterations in their behavior or gross anatomy. While normal numbers of both T and B cell lymphocytes are produced, homozygous mutants display severe defects in humoral immune responses. Normal immunoglobulin levels are observed, but the mice are unable to clear Listeria monocytogenes or Streptococcus pneumoniae, thus indicating the necessity of Bcl3 in the production of antigen-specific antibodies. Additionally, splenic white pulp is devoid of germinal centers in the homozygous null mice.
010710	FVB;129S6-Snca^tm1Nbm Tg(SNCA)1Nbm/J	Repository- Live
	These PAC-Tg(SNCA^WT);Snca^-/- mice are viable and fertile, harboring a Snca knockout allele and a transgene encoding the human α-synuclein. As homozygotes, expression of endogenous mouse α-synuclein is abolished and replaced by human α-synuclein from the two total insertions of the PAC-Tg(SNCA^WT). While brain RNA expression of SNCA^WT is more than 50-fold greater compared to normal endogenous mouse α-synuclein, protein levels are only 1 to 1.5-fold greater. In colon however, both RNA and protein expression of SNCA^WT are ~100-fold greater than normal endogenous mouse α-synuclein. PAC-Tg(SNCA^WT);Snca^-/- mice do not show any enteric nervous system abnormalities or widespread α-synuclein aggregation in brain or colon. No detectable motor behavior impairments, autonomic abnormalities, olfactory dysfunction, dopaminergic deficits, Lewy body inclusions or neurodegeneration are ..... For more information please see the full phenotype on the strain data sheet
010799	FVB;129S6-Snca^tm1Nbm Tg(SNCAA53T)1Nbm Tg(SNCAA53T)2Nbm/J	Repository- Live
	These double transgenic homozygous mice (dbl-PAC-Tg(SNCA^A53T);Snca^-/- mice) are viable and fertile, harboring a Snca knockout allele and two independently inserted transgenes encoding the human A53T-mutant α-synuclein associated with autosomal dominant Parkinson's disease. As homozygotes, expression of endogenous mouse α-synuclein is abolished and replaced by α-synuclein*A53T from the four total insertions of the PAC-Tg(SNCA^A53T). While brain RNA expression of SNCA^A53T is ~10-fold greater compared to normal endogenous mouse α-synuclein, protein levels are only 1 to 1.5-fold greater. In colon however, both RNA and protein expression of SNCA^A53T are ~80-fold greater than normal endogenous mouse α-synuclein. By three months of age, dbl-PAC-Tg(SNCA^A53T);Snca^-/- mice show robust abnormalities in enteric nervous system function (impaired colonic motility [males only] and prolonge ..... For more information please see the full phenotype on the strain data sheet
000675	LG/J	Repository- Live
	LG/J mice develop antinuclear antibodies and rheumatoid factor as well as renal disease characterized by glomerulonephritis, interstitial nephritis, and perivasculitis (Peng et al., 1996). LG/J was the predominant strain used to develop the MRL/LpJ (Stock No. 000486) inbred strain, a model for autoimmunity. LG/J mice are often compared to SM/J (Stock No. 000687) for quantitative trait locus analysis in the areas of atherosclerosis, obesity, and mandible size . These mice are susceptible to diet-induced obesity and diet-induced atherosclerosis. This strain is among the least responsive to phytohemagglutinin (Heiniger et al., 1975).
003925	MRL.129P2(B6)-B2m^tm1Unc/Dcr-Dab1^scm-2J/J	Repository- Live
	See Stock No. 000486 for important information on the MRL/MpJ background.
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
003729	NOD.129S7(B6)-Rag1^tm1Mom/J	Repository- Live
	Mice homozygous for the Rag1^tm1Mom mutation produce no mature T cells or B cells. Their phenotype can be described as a "non-leaky" severe combined immune deficiency. (Prkdc^scid/Prkdc^scid) mice produce some B cells and IgM. NOD.129S7(B6)-Rag1^tm1Mom/J mice have no CD3⁺ or T cell receptor (TCR) alpha-beta positive cells. The thymus of the mutant mice is severely involuted. The thymocytes are CD8^-CD4^- and most are IL2 receptor positive. Neither the spleen nor bone marrow contain any IgM or IgD staining cells, indicating an absence of mature B cells. These and other data suggest that both B cell and T cell development have been arrested at an early stage. Macroscopically, the mutants are indistinguishable from heterozygotes or normal wildtype siblings. Notable differences between this strain and the NOD.CB17-Prkdc^scid/J strain (Stock No. 001303) include a longer life s ..... 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
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.
004848	NOD.Cg-Rag1^tm1Mom Prf1^tm1Sdz/SzJ	Repository- Live
	Mice that are homozygous for both targeted mutations are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities when housed under specific pathogen free conditions. These double homozygote mutant mice have no mature T or B lymphocytes, no detectable NK cell cytotoxic activity, and lack serum immunoglobulin. The number of nucleated spleen cells is significantly reduced in double mutant mice, when compared to the single homozygote, NOD.129S7(B6)-Rag1^tm1Mom/J (Stock No. 003729). Although an increased number of DX5⁺CD122⁺ NK cells are found in the spleens of double mutants, these NK cells have impaired cytotoxic activity. The disruption of Prf1 ablates NK cell cytotoxic activity resulting in increased engraftment levels over that observed with Stock No. 003729. All mutant mice develop thymic lymphomas. This double mutant mouse strain may be useful in studies involving engraftment of human hematolympho ..... For more information please see the full phenotype on the strain data sheet
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
009377	NOD.Cg-Rag1^tm1Mom Tg(TcraBDC12-4.1)10Jos Tg(TcrbBDC12-4.1)82Gse/J	Repository- Live
	This double transgenic, targeted mutation strain carries a rearranged Tcr beta gene and a Tcr alpha gene from the pathogenic anti-insulin CD4⁺ T-cell clone BDC12-4.1 and NOD.Rag1^tm1Mom targeted mutation (Stock No. 003729). Triple mutant mice are viable and fertile. When the congenic NOD double transgenic is combined with a homozygous Rag1^tm1Mom mutation, recombination of the endogenous TCR and immunoglobulin genes is prevented. As a result, mature T cells in these mice express only the BDC12-4.1 TCR. Further, approximately 50% of the TCR double transgenic, Rag1^tm1Mom homozygote mice develop diabetes by 30 weeks of age. Histopathology indicates severe insulitis and/or destruction of all insulin-producing cells (Jasinski et al 2006). This BDC12-4.1 TCR double transgenic, Rag1 deficient strain is useful for further studying the pathogenesis of insulin autoimmuni ..... For more information please see the full phenotype on the strain data sheet
009355	SAMP1/YitFcsJ	Repository- Live
	SAMP1/YitFcs (also called SAMP1/YitFc or SAMP1/Fc) mice develop a spontaneous ileitis that is similar in many features to human Crohn's disease. Development of ileitis is accelerated by the presence of luminal bacteria and is characterized by discontinuous segmental inflammation involving the ileum while sparing the proximal small intestine and colon. The histopathologic features of SAMP1/Fc ileitis include transmural inflammation, crypt abscesses, and epithelial changes including loss of villi, crypt elongation, and crypt branching. SAMP1/Fc mice were originally distinguished from the strain from which they were derived (SAMP1/Yit) by spontaneous onset of ileum inflammation by 10 weeks of age at nearly 100% penetrance and the emergence of a perianal fistulizing disease not reported in the parental strain. Other distinguishing characteristics of the SAMP1/Fc substrain include incidence of skin lesions inversely correlated with the occurrence of intestinal inflammation, chronic ileitis ..... For more information please see the full phenotype on the strain data sheet
013043	SJL.129S2(C)-Cxcr2^tm1Mwm/RmraJ	Repository- Live
	Homozygous mice are viable but fail to thrive (few pups are produced). Maintaining homozygous mice in a gnotobiotic vivarium may enhance strain breeding performance. Heterozygous mice are viable and fertile with no reported needs for special husbandry. The donating investigator reports that Cxcr2-deficient mice on the SJL/J genetic background are resistant to experimental autoimmune encephalomyelitis (EAE) protocols compared to susceptible SJL/J wildtype mice. Cxcr2-deficiency on other genetic backgrounds is associated with several abnormalities, including neurological defects, impaired wound healing, impaired angiogenesis, and altered growth of induced/implanted tumors. In addition, homozygotes may also exhibit splenomegaly, lymphadenopathy, and increased susceptibility to various pathogens due to impaired neutrophil recruitment and decreased pathogen clearance during innate immune responses. These mutant mice may be useful in studying inflammation, immunology, cancer biology, demyel ..... For more information please see the full phenotype on the strain data sheet
004585	STOCK Cav1^tm1Mls/J	Repository- Live
	Mice that are homozygous for the targeted mutation are viable, fertile and do not display any gross physical abnormalities. Mutant mice exhibit exercise intolerance when challenged and are slightly hyperphagic. No gene product (protein) is detected by Western blot analysis in adipose, lung and heart tissues or in cultured mouse embryonic fibroblasts (MEFs). A decrease in the level of co-expressed caveolin-2 protein is immunodetected. At age 4-5 months, mutant mice are often smaller than their wildtype littermates. By one year of age, mutant mice weigh 5 to 7 grams less than wildtype, and are resistant to diet-induced obesity. Progressive adipose pathology results in reduced white adipose tissue with abnormally small adipocytes and enlarged, hyperplastic brown adipose tissue. Homozygotes display lipid metabolism and uptake disruption with elevated serum triglycerides and free fatty acid levels, and reduced leptin levels. Isolated aortic tissue segments have a diminished vasoconstriction ..... For more information please see the full phenotype on the strain data sheet
014108	STOCK Epn3^tm1.1Pdc/J	Repository- Live
	These Epn3^-/- mice lack the entire coding region of the Epsin 3 (Epn3) gene. Homozygous mice are viable, fertile, and normal in size. Epn3 is expressed specifically in in the parietal cells of the stomach as well as in keratinocytes migrating across collagen in cutaneous wounds.
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.
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.
014120	STOCK Mkx^tm1.2Jian/J	Repository- Live
	Mice that are homozygous for the targeted mutation are viable, fertile, normal in size and do not display any gross behavioral abnormalities. By 2 weeks of age, homozygotes have wavy tails that are obvious when the mice are running. In the tails of homozygotes, tendon morphology is abnormal (crimp patterning), smaller in size than wildtype controls and tendon insertions on vertebrae are not easily seen. Limb tendons are also smaller with abnormal morphology. Tendon fibrils from mutants exhibit smaller diameter when compared to wildtype controls as early as postnatal day 5. Tendon sheaths from homozygotes are thicker and have more cell layers than wildtype controls.
006770	STOCK Rag1^tm1Mom Tg(TIE2GFP)287Sato/J	Repository- Live
	To generate this double mutant strain, B6.Cg-Tg(TIE2GFP)287Sato/1J (Stock No. 004659) was crossed to C.129S7(B6)-Rag1^tm1Mom/J (Stock No. 003145). This mutant mouse strain may be useful in studies examining angiogenesis in transplanted tissues. 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 for each single mutant. We will modify the strain description if necessary as published results become available.
010721	STOCK Tgfb1^tm2.1Doe/J	Repository- Live
	Mice homozygous for this Tgfb1^{flox-ex 6} conditional allele are viable and fertile, with loxP sites flanking exon 6 of the Tgfb1 (transforming growth factor, beta 1) gene. When bred to mice that express Cre recombinase, the resulting offspring will have the floxed region deleted in the cre-expressing tissues while leaving the precursor pro-region and neighboring B9d2 (LOC232987) gene intact.
010911	STOCK Wt1^{tm1(EGFP/cre)Wtp}/J	Repository- Live
	Homozygous mice die between embryonic day (E)13.5 and birth with defects of heart, kidney, gonads, and multiple other organs. Heterozygous (Wt1^GFPCre/+) mice are viable and fertile. The Wt1^GFPCre "knock-in" allele both abolishes Wt1 gene function and expresses an enhanced green fluorescent protein-Cre recombinase fusion protein (EGFPCre) from the Wt1 promoter/enhancer elements. In heart from heterozygous mice, EGFPCre expression is directed to proepicardium and epicardium from E9.5 to E15.5, and is not found in the myocardium. When bred to mice containing loxP-flanked sequences, the resulting offspring will have Cre-mediated deletion of the floxed sequences in the Wt1-expressing cells (and their descendants). As Wt1 is expressed in the developing genitourinary system and in the mesothelia overlying most visceral organs, these mutant mice may be useful as fluorescent/Cre-lox tools for lineage-tracing/marking Wt1-expressin ..... For more information please see the full phenotype on the strain data sheet
010912	STOCK Wt1^{tm2(cre/ERT2)Wtp}/J	Repository- Live
	Homozygous mice die between embryonic day (E)13.5 and birth with defects of heart, kidney, gonads, and multiple other organs. Heterozygous (Wt1^CreERT2/+) mice are viable and fertile. The Wt1^CreERT2 "knock-in" allele both abolishes Wt1 gene function and has expression of the CreER^T2 fusion protein (CreERT2) under control of the Wt1 promoter/enhancer elements. In heart from heterozygous mice, CreERT2 expression is directed to proepicardium and epicardium from E9.5 to E15.5, and is not found in the myocardium. CreERT2 fusion gene activity is inducible; observed following tamoxifen administration. As such, when Wt1^CreERT2 mice are bred with mice containing loxP-flanked sequence, tamoxifen-inducible Cre-mediated recombination will result in deletion of the floxed sequences in the Wt1-expressing cells of the offspring. The donating investigator reports that Cre activity may be observed prior to tamoxifen exposure only in ..... For more information please see the full phenotype on the strain data sheet
005650	STOCK Tg(Myh6-cre/Esr1*)1Jmk/J	Repository- Live
	The alpha-MHC-MerCreMer transgene has the mouse Myh6 promoter (myosin, heavy polypeptide 6, cardiac muscle, alpha; alpha-MHC) directing expression of a tamoxifen-inducible Cre recombinase (MerCreMer) to juvenile and adult cardiac myocytes. Mice homozygous for the alpha-MHC-MerCreMer transgene are viable, fertile, normal in size, and do not display any gross physical or behavioral abnormalities. Cre recombinase expression in heart tissue is confirmed by western blot. Southern blot confirmed heart cell specificity compared to brain, kidney, lung, liver, and skeletal muscle. Insertion of this transgene and its protein show no changes in echocardiography, heart mass or pathology, or hypertrophy marker genes compared to nontransgenic littermates. Of note, the MerCreMer double fusion protein has substantially greater Cre recombinase activity with less promiscuity compared with the CreMer single fusion protein. When alpha-MHC-MerCreMer transgenic mice are bred with mice containing > ..... For more information please see the full phenotype on the strain data sheet
016572	STOCK Tg(Myh6/tetO-Gata4)1Jmol/J	Repository- Live
	These Gata4 transgenic mice contain GATA binding protein 4 (Gata4) sequence regulated by a tetracycline operator (tetO), driven by myosin, heavy polypeptide 6, cardiac muscle, alpha (Myh6 or α-MHC) promoter/enhancer elements. Hemizygotes are viable, fertile, and normal in size. α-MHC limits overexpression of Gata4 to the heart. GATA4 is a zinc-finger-containing transcription factor expressed in cardiomyocytes and has a role in regulating the expression of genes involved in cardiac differentiation. When mated to a mutant strain expressing tetracycline-controlled transactivator protein (tTA), expression of GATA4 protein may be controlled by the administration of tetracycline or its analog doxycycline in bi-allelic offspring. For instance, when bred to mice expressing tTA driven by the α-MHC promoter, double transgenic animals exhibit an increase in myocardial capillary densities, coronary flow reserve, and p ..... For more information please see the full phenotype on the strain data sheet
017476	129S-Ucp1^tm1Kz/J	Under Development - Now Accepting Orders
	Mice that are homozygous for this knockout allele are viable and fertile, but exhibit sensitivity to cold temperatures. The Donating Investigator notes that homozygous offspring have increased survival rates to weaning age when maintained at 25°C to 28°C. No gene product (mRNA or protein) is detected by Northern or Western blot analysis of brown adipose tissue from homozygotes. When maintained at 20°C, homozygotes are resistant to diet induced obesity with reduced white fat depot weights, exhibit a 0.1-0.3°C higher body temperature, and a slightly lowered respiratory quotient compared to controls. Notably, when maintained at 27°C, homozygous mutant mice are no longer resistant to diet induced obesity and gain weight at a rate similar to wildtype controls. An increase in the number of brown adipocytes in the inguinal fat depots is observed in mutant mice maintained at 20°C, on either diet. Homozygotes have reduced levels of plasma fatty acids, circula ..... For more information please see the full phenotype on the strain data sheet
017523	129S6.Cg-Tg(Gfap-TK)7.1Mvs/RhnJ	Under Development - Now Accepting Orders
	Mice hemizygous for the transgenic insert are viable, normal in size, and do not display any behavioral abnormalities. Transgenic males are infertile. Proliferating cells that express the herpes simplex virus thymidine kinase (HSV-TK) transgene will metabolize ganciclovir (GCV) to toxic nucleotide analogues and undergo cell death. Transgene-derived HSV-TK is present exclusively in cells expressing endogenous Gfap. This coexpression occurs in brain astrocytes and adult neural stem cells, enteric glia, hepatic stellate cells, and unknown cells in heart, lung, kidney, adrenal, and spleen. Chronic GCV treatment for 21 days depletes GFAP-positive adult neural stem cells from forebrain proliferative zones. GCV treatment eliminated growth of primary multipotent neurospheres cultured from the germinal zones of postnatal and adult, but not early embryonic, transgenic mice. Notably, the same treatment prevented growth of secondary multipotent neurospheres from all three developmental stag ..... For more information please see the full phenotype on the strain data sheet
017586	B6.129(Cg)-Ccr2^tm2.1Ifc/J	Under Development - Now Accepting Orders
	In this strain, a monomeric red fluorescent protein (RFP) sequence replaces the coding sequence of the chemokine (C-C motif) receptor 2 (Ccr2) gene, abolishing gene function. CCR2 is a chemokine receptor expressed on monocytes which directs their recruitment to sites of inflammation found in diseases such as multiple sclerosis, atherosclerosis, rheumatoid arthritis, and experimental autoimmune encephalitis (EAE), following activation by monocyte chemoattractant proteins (MCPs). CCR2 is essential to innate and adaptive immune responses during injury repair. Homozygous mice are viable, fertile, normal in size, and do not display any gross physical or behavioral abnormalities. In these mice RFP expression is seen in circulating monocytes, T cells, and natural killer cells. They exhibit a reduction in monocyte recruitment during thioglycolate-induced peritonitis and EAE. These mice may be useful for studying the role of CCR2 during monocyte recruitment to sites of inflammation. ..... For more information please see the full phenotype on the strain data sheet
016224	B6.129S(Cg)-Id2^tm2.1Blh/ZhuJ	Under Development - Now Accepting Orders
	The Id2-EGFP knockin allele was designed to both abolish inhibitor of DNA binding 2 (Id2) gene function and express enhanced green fluorescent protein (eGFP) from the Id2 promoter/enhancer elements. No mRNA or protein expression from the Id2-eGFP allele is observed. The donating investigator reports that homozygote mice mice are runted with defective lung alveolarization. Other organ systems have not been evaluated. However, Id2-eGFP homozygotes may be expected to exhibit the same phenotype as mice homozygous for other null mutations of this gene (including postnatal lethality and defects of the immune system, digestive tract, kidneys, adipose tissue and mammary gland development). The donating investigator also reports eGFP expression recapitulates the endogenous Id2 expression pattern. In the lungs, immunohistochemical detection of eGFP recapitulates the epithelial expression of the endogenous gene (distal tip lung epithelial multipotent precursor cells of the ..... For more information please see the full phenotype on the strain data sheet
014137	B6.129S4-Pmch^tm1Emf/J	Under Development - Now Accepting Orders
	Mice that are homozygous for this knockout are viable, fertile, and exhibit a smaller stature and increased locomotor activity when compared to wildtype controls. No gene product (mRNA or protein) is detected by RT-PCR and in situ hybridization analysis of hypothalamus tissue, RT-PCR of pancreatic islets from homozygotes and immunocytochemical analysis of brain tissue from homozygotes. Homozygotes appear smaller, are leaner than wildtype controls and when placed on a chow diet, display increased basal metabolic rates and locomotor activity. When fed a high-fat diet, the oxygen consumption ( by 15.7%) and activity levels are further increased and homozygotes do not gain as much weight as controls. The lean phenotype persists in homozygous mice more than 12 months of age. Homozygotes, 12-19 months of age, are more sensitive to insulin, have reduced aging-associated weight and visceral adiposity gain, maintain increased locomotor activity, and are resistant to aging-associated glu ..... For more information please see the full phenotype on the strain data sheet
017799	B6.129X1-Camp^tm1Rlg/J	Under Development - Now Accepting Orders
	The mouse Camp gene is an ortholog of the human gene CAMP, which encodes the precursor of cathelicidin antimicrobial peptide LL-37 (or CRAMP in mouse). Expressed mucosal epithelial cells, circulating neutrophils, and myeloid bone marrow cells, Camp is an essential part of the first line of defense against infection. In addition to antimicrobial activity, cathelicidin antimicrobial peptide plays a role in NK cell-mediated tumor growth suppression, and when secreted by neutrophils acts, as an attractant for monocytes, promoting wound healing or angiogenesis. Mouse CRAMP is implicated in adaptive immune response regulation and can interfere with TLR function via interactions with hyaluronan. Mice deficient in CRAMP are more susceptible to experimentally induced necrotic skin infection with Group A Streptococcus, urinary tract infection with uropathogenic E. coli, Pseudomonas aeruginosa infection, and meningococcal Neisseria meningitidis ..... For more information please see the full phenotype on the strain data sheet
017722	B6.Cg-Tg(Tal1-tTA)19Dgt/J	Under Development - Now Accepting Orders
	Hemizygotes are viable, fertile, normal in size, and do not display any behavioral abnormalities. Hemizygotes express tetracycline-controlled transactivator protein (tTA) in bone marrow hematopoietic stem cells (HSC) and in common myeloid progenitors (CMP)). tTA activity also is detected in lung. Little to no tTA activity is detected in thymus, lymph node, intestine or spleen. When bred to other transgenic mice carrying a gene of interest coupled to a tetracycline-responsive promoter element (TRE; tetO), expression of the target gene in the bitransgenic offspring can be induced by withdrawal of tetracycline or doxycycline. This strain represents an effective tool for generating bitrangenic animals to study inducible gene expression in blood stem and progenitor cells. In an attempt to offer alleles on well-characterized or multiple genetic backgrounds, alleles are frequently moved to a genetic background different from that on which an allele was first characterized. This is the cas ..... For more information please see the full phenotype on the strain data sheet
017560	B6.FVB-Tg(Fabp4-IKBKB*)49Hxu/J	Under Development - Now Accepting Orders
	These aP2-hIKKbeta SE transgenic mice express a constitutively active form of the human inhibitor of kappaB kinase beta (IKBKB) gene in adipose tissue under direction of the mouse fatty acid binding protein 4 (Fabp4) promoter. Hemizygous mice are viable and fertile. IKBKB gene product, IKKβ, is a master kinase involved in obesity-related inflammation and insulin resistance. These mice exhibit increased food intake, reduced weight of white adipose tissue, increased energy expenditure, and reduced triglyceride contents in adipose tissue, liver and muscle. They also exhibit reduced plasma free fatty acid (FFA) levels, increased systemic and tissue inflammation, decreased blood glucose levels, and improved glucose and insulin tolerance. These aP2-hIKKbeta SE mice show a decrease in hepatosteatosis even on a high fat diet. These mice may be useful for studying the effects of inflammation on adipose tissue and metabolism.
016230	B6;129S4-Bmp2^tm1Jfm/J	Under Development - Now Accepting Orders
	Mice homozygous for this Bmp2^floxneo allele have loxP sites flanking exon 3 of the targeted gene. When bred to mice that express Cre recombinase, the resulting offspring will have the sequences encoding the endogenous mature ligand deleted in the cre-expressing tissue(s) resulting in a null allele. Homozygous mice are viable and fertile. These mutant mice may be useful in generating conditional mutations for studying the role of Bmp2 in bone morphogenetic protein signaling pathways, bone biology, cardiovascular biology, and cancer (Bmp2 misregulation is associated with cancer cell motility/invasiveness and epithelial-to-mesenchymal transition/transformation [EMT]).
016878	B6;129S4-Bmp4^tm1Jfm/J	Under Development - Now Accepting Orders
	Mice homozygous for this Bmp4^floxneo allele have loxP sites flanking exon 4 of the targeted gene. When bred to mice that express Cre recombinase, the resulting offspring will have the sequences encoding the endogenous mature peptide deleted in the cre-expressing tissues resulting in a null allele. Mice homozygous for the Bmp4^floxneo allele are viable and fertile. These mutant mice may be useful in generating conditional mutations for studying the role of Bmp4 in bone morphogenetic protein signaling pathways, bone biology, cardiovascular biology, and cancer (Bmp4 misregulation is associated with cancer cell motility/invasiveness and epithelial-to-mesenchymal transition/transformation [EMT]). For example, when crossed to a strain expressing Cre recombinase in early limb bud mesenchyme and in a subset of craniofacial mesenchyme (see Stock No. 005584), this mutant mouse ..... For more information please see the full phenotype on the strain data sheet
012873	C.DDD-plt/NknoJ	Under Development - Now Accepting Orders
	Homozygous BALB/c-plt mice are viable and fertile, harboring the spontaneous plt (or "paucity of lymph node T cells") deletion of both the Ccl19 and Ccl21a loci on chromosome 4. Lack of expression of these two CCR7 receptor ligands in the secondary lymphoid organs results in abnormal leukocyte migration and impaired immune response. Specifically, homozygous mice have disrupted trafficking/homing of T cells and dendritic cells to lymphoid tissues. No reported abnormalities in B cell distribution/cellularity are reported for homozygous mice. Homozygous mice exhibit mature single-positive thymocyte arrest in the thymic cortex that results in defective formation of the medullary region of the thymus. Thymic export of T cells in these mice is compromised during the neonatal period but not in adulthood. While CCL21 expression is absent in lymphoid organs because of the Ccl21a deletion, CCL21 expression in non-lymphoid organs is observed because the upstre ..... For more information please see the full phenotype on the strain data sheet
017461	C57BL/6-Mia2^cpto/J	Under Development - Now Accepting Orders
	These Mia2^cpto ENU-induced mutant mice possess a missense mutation in exon 3 of the melanoma inhibitory activity 2 (Mia2) gene. Homozygotes are viable and fertile. Mia2 encodes many transcripts due to alternative splice and promoter use. Transcripts including exon 3, which contains the cpto mutation, are specifically expressed in liver and small intestine. Localized to endoplasmic reticulum exit sites, MIA2 plays a role in the regulation of sorting in the secretory pathway. Variations in Mia2 transcript levels have been implicated in several types of liver disease. These MIA2 mutants exhibit lower circulating very-low-density lipoprotein VLDL, low-density lipoprotein (LDL), high-density lipoprotein (HDL), and triglycerides. They have no changes in glucose levels, insulin levels, body weight, fat mass or lean mass as compared to controls. These mutant mice may be useful in studying the regulation and secretion of circulating cholesterol and ..... For more information please see the full phenotype on the strain data sheet
017598	FVB/N-Sdccag8^{Tn(sb-Tyr)2161B.CA1C2Ove}/J	Under Development - Now Accepting Orders
	These OVE2161B-CA1C-2 mice harbor a mutation created by random insertion of the pT2-BART3 transposon transgene. Using inverse PCR analysis, the integration site was identified between exons 12-13 of the serologically defined colon cancer antigen 8 gene (Sdccag8) on chromosome 1. The transgene is linked to the (+) strand of DNA at position 178,833,225 bp [NCB137/mm9; L:SV40:178,833,225(+)]. The donating investigator reports that homozygous mice have complete absence of Sdccag8 transcript. All homozygous mice exhibit cleft palate, with open palate observed by embryonic day (E)15. Homozygous mice die shortly after birth with complications from cleft palate (cannot suckle). In addition, the donating investigator reports that homozygous mice exhibit preaxial polydactyly and polycystic kidney disease. Hemizygous and homozygous mice of line OVE2161B-CA1C-2 exhibit very light tan coat color and red eyes.
017637	NOD.Cg-Prkdc^scid Il2rg^tm1Wjl H2-Ab1^tm1Gru Tg(HLA-DRB1)31Dmz/SzJ	Under Development - Now Accepting Orders
	These NSG-Ab^o DR4 mice lack expression of the murine Prkdc gene, the X-linked Il2rg gene, and MHC class II, but express the human leukocyte antigen DR4 gene. When maintained as homozygous for all three targeting events, and carrying one copy of the transgene, these mice are viable and fertile. Unlike in the NOD.Cg-Prkdc^scid Il2rg^tm1Wjl/SzJ (NSG) mice (Stock No. 005557), the expression of HLA-DR4 in these mice leads to the development of allo-graft-versus-host disease (GVHD) after engraftment of human DR4-negative CD4⁺ T cells. These mice may be useful for targeting human CD4⁺ T cells in transplantation studies in the absence of xeno-GVHD.
017830	NOD.Cg-Prkdc^scid Il2rg^tm1Wjl Tg(PGK1-KITLG*220)441Daw/SzJ	Under Development - Now Accepting Orders
	These mice express a 220 amino acid isoform of the human membrane-bound stem cell factor (hSCF or KITLG) in combination with the severe combined immunodeficiency allele (scid) of the protein kinase, DNA activated, catalytic polypeptide (Prkdc) gene and the Il2rg^tm1Wjl mutation of the interleukin 2 receptor, gamma chain gene. Newborn NSG-Tg(hu-mSCF) mice engraft human hematopoietic stem cells without pre-conditioning irradiation treatment and develop mature functional humanized immune systems, capable of rejecting histoincompatible human skin grafts. Differentiated c-Kit⁺ human mast cells can be detected in bone marrow, spleen, and mucosal lung, gastric, and intestinal tissues of engrafted mutant mice.
017619	NOD.Cg-Prkdc^scid Tg(CAG-EGFP)1Osb/KupwJ	Under Development - Now Accepting Orders
	These compound mutant mice carry both the Prkdc^scid (scid) mutation and a transgene harboring an enhanced green fluorescent protein (EGFP) cDNA under the control of a chicken beta-actin promoter and cytomegalovirus enhancer (CAG). Mice homozygous for the EGFP transgene exhibit a robust and widespread expression of green fluorescent protein in all cells of embryos and adults. Animals homozygous for scid and hemizygous for GFP are viable and fertile and exhibit the same immunodeficient characteristics of the parental NOD Prkdc^scid strain (e.g. T, B, and NK cell deficiencies - see Stock No. 001303). These mice can act as recipients of allogeneic and xenogeneic grafts and perhaps more importantly, donors of fluorescent-labeled cells, making them an ideal model for cell transfer experiments.
017693	STOCK Gsk3b^tm1Grc/J	Under Development - Now Accepting Orders

017632	STOCK Ncor1^tm1Anh/J	Under Development - Now Accepting Orders
	These NCoR^lox mutant mice possess loxP sites flanking exons 37-40 of the nuclear receptor co-repressor 1 (Ncor1) gene. Exons 37-40 encode two of three 5' receptor interacting domains (RIDs). NCOR1 is recruited through interactions of its RIDs to nuclear receptors, such as retinoic-acid and thyroid-hormone receptors (TR), where it acts as a transcription repressor. Mice that are homozygous for this allele are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. When bred to mice that express tissue-specific Cre recombinase, resulting offspring will have exons 37-40 deleted in the cre-expressing tissues. For example, when bred to B6.Cg-Tg(Alb-cre)21Mgn/J mice (Stock No. 003574) deletion of the two most 5' RIDs (N2 and N3) in the liver results in the inability of NCOR1 to bind to the TR. This strain may be useful for studying the role of NCOR1 on ..... For more information please see the full phenotype on the strain data sheet
016146	STOCK Tg(SFTPC-rtTA)2Jaw/J	Under Development - Now Accepting Orders
	These transgenic mice express the reverse tetracycline-controlled transactivator (rtTA) protein under the control of the human SFTPC, surfactant, pulmonary-associated protein C, promoter. In situ hybridization detects rtTA mRNA in lung peripheral epithelial cells from adult mice and 15 postconception day-aged embryos from doxycycline treated dams. Induction of transgene expression is detected as early as postconception day 12.5 when the pregnant female is treated with doxycycline. When mated to a second transgenic strain carrying a gene under the regulatory control of a tetracycline-responsive promoter element (tetO), expression of the gene may be regulated with the tetracycline analog, doxycycline (dox); in the presence of dox, transcription of the target gene is induced in cells where rtTA is expressed. Mice that are homozygous for this transgene are viable, fertile, normal in size, and do not display any gross physical or behavioral abnormalities. This strain provide ..... For more information please see the full phenotype on the strain data sheet
016145	STOCK Tg(Scgb1a1-rtTA)2Jaw/J	Under Development - Now Accepting Orders
	These transgenic mice express the reverse tetracycline-controlled transactivator (rtTA) protein under the control of the rat Scgb1a1, secretoglobin, family 1A, member 1 (uteroglobin), gene promoter. In situ hybridization detects rtTA mRNA in bronchial and type II epithelial cells of lung tissue from adult transgenic mice treated with doxycycline for seven days. Induction of transgene expression is detected as early as postconception day 14 when the pregnant female is treated with doxycycline. When mated to a second transgenic strain carrying a gene under the regulatory control of a tetracycline-responsive promoter element (tetO), expression of the gene can be regulated by the tetracycline analog, doxycycline (dox); in the presence of dox, transcription of the target gene is induced in cells where rtTA is expressed. Mice hemizygous for the CCSP-rtTA transgene are viable, fertile, normal in size, and do not display any gross physical or behavioral abnormalities. This founde ..... For more information please see the full phenotype on the strain data sheet
009126	B6.Cg-Nos2^tm1Lau Tg(Thy1-APPSwDutIowa)BWevn/Mmjax	Transferred

006616	129(B6)-Ccni^tm1Jro/J	Cryopreserved - Ready for recovery
	Mice homozygous for this targeted mutation are viable and fertile and do not display any gross physical or behavioral abnormalities. No protein product from the targeted gene is detected in the tissues tested. Distinct lacZ staining is seen in the glomerulus of podocytes in the kidney. Weaker and variable expression of lacZ is seen in tubular cells. Increased susceptibility to apoptosis both in vitro and in vivo is observed. Following induction of experimental glomerulonephritis, podocyte apoptosis was increased 4-fold in homozygotes, which is associated with dramatically decreased renal function. This mutant mouse strain represents a model that may be useful in studies of apoptosis, renal impairment and glomerulosclerosis.
006365	129-Cckar^tm1Kpn Cckbr^tm1Kpn/J	Cryopreserved - Ready for recovery
	Mice that are homozygous for both of the targeted mutations are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. The donating investigator reports that the double mutants have a combined phenotype. No CCKBR receptor function was detected in competition binding assay of brain (cerebral plasma) membranes. When compared to wildtype, gastric pH in homozygotes is higher, pH 5.2, after overnight fast. Histological analysis reveals diminished parietal cell, enterochromaffin-like cell and antral comatostatin-producing D cell densities. An increase in the number of gastrin-producing G cells is observed. There is an increased number of H+, K+ -ATPase immunoreactive negative cells and abnormal distribution of parietal cells in oxyntic glands. Circulating gastrin levels are 10-fold higher in homozygotes. No CCKAR receptor function was detected in competition binding assay of pancreatic membranes. Homozygotes do not exhibit decreased ..... For more information please see the full phenotype on the strain data sheet
006367	129-Cckar^tm1Kpn/J	Cryopreserved - Ready for recovery
	Mice that are homozygous for the targeted mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. No receptor function was detected in competition binding assay of pancreatic membranes. Mice homozygous for the targeted mutation do not exhibit decreased food intake due to peritoneal injection of cholecystokinin. Baseline food and water intake and body weight is normal in mutant mice. These mutant mice have larger gallbladder volumes and are more likely to develop spontaneous gallstones than wildtype controls. Gastric function is impaired due to diminished intestinal lipid feedback response. Small-intestine transit time is increased in mutant mice. When fed a lithogenic diet, mutant mice have an increase in biliary cholesterol secretion rates, when compared to the wildtype. Although the total number of olfactory-gonadotropin-releasing hormone-1 neuroendocrine (GnRH-1)neurons is the same in embryonic day 14.5 aged mutant and wildtype ..... For more information please see the full phenotype on the strain data sheet
006369	129-Cckbr^tm1Kpn/J	Cryopreserved - Ready for recovery
	Mice that are homozygous for the targeted mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. No receptor function was detected in competition binding assay of brain (cerebral plasma) membranes. When compared to wildtype, gastric pH in homozygotes is higher, pH 5.2, after overnight fast. Histological analysis reveals diminished parietal cell, enterochromaffin-like cell (ECL) and antral comatostatin-producing D cell densities. An increase in the number of gastrin-producing G cells is observed. There is an increased number of H+, K+ -ATPase immunoreactive negative cells and abnormal distribution of parietal cells in oxyntic glands. Circulating gastrin levels are 10-fold higher in homozygotes. Gastric mucosal histamine levels are greatly reduced and histamine-immunoreactive ECL cells are absent. This mutant mouse strain may be useful in studies of hypochlorhydria, hypergastinemia, gastric antral endocrine regulation, and ..... For more information please see the full phenotype on the strain data sheet
002909	129-Cyp1a2^tm1Gonz/J	Cryopreserved - Ready for recovery
	Most homozygous 129/Sv-Cyp1a2^tm1Gonz mice die perinatally with impaired respiratory function due to lung immaturity. Amniotic fluid is not properly evacuated from the lungs at birth, and the alveoli do not fill with air. Lungs of homozygous mutant mice show lower levels of surfactant-associated protein (SAP) at birth than do wild type littermates. The penetrance of this phenotype is incomplete, as approximately 3% of homozygous mutants do survive to adulthood. Surviving animals, although they lack CYP1A2 protein, appear phenotypically normal and can reproduce.
004166	129-Itgb5^tm1Des/J	Cryopreserved - Ready for recovery
	Mice that are homozygous for the Itgb5^tm1Des targeted mutation are viable, fertile, normal in size, and do not display any gross physical or behavioral abnormalities. No Itgb5 gene product (mRNA or protein) is detected. Homozygotes display defects in VEGF-mediated vascular permeability. Cultured keratinocytes derived from homozygous mutant animals display impaired adhesion and migration on vitronectin-coated surfaces.
002674	129-Kras^tm1Tyj/J	Cryopreserved - Ready for recovery
	Homozygous mice die at about embryonic day 12-13. They have a hypocellular fetal liver which also displays extensive cell death. They also appear to have a defect in both the hematopoietic cells and their microenvironment.
003451	129-Smad3^tm1Par/J	Cryopreserved - Ready for recovery
	Mice homozygous for the targeted mutation are viable. Although fertile, they produce litters at reduced efficacy compared to wild type or heterozygous mice. Null mutants are approximately 20%-30% smaller than heterozygous or wildtype litter mates, with males exhibiting a more pronounced size reduction. Reporter lacZ expression is observed in many developing embryonic tissues with highest levels in mesenchymal derivatives. Expression in adult mutant mice is observed in the colon, with highest levels in the muscularis propria and submucosa with lower levels in the epithelium. At approximately 4-6 months of age, they develop gastric tumors. The donating investigator originally described spontaneous, deeply invasive colorectal adenocarcinomas that penetrate through all layers of the intestinal wall and metastasize to lymph nodes. Colorectal adenocarcinomas are not a component of the phenotype observed in this strain at The Jackson Laboratory. However, the gastric epithelium was fo ..... For more information please see the full phenotype on the strain data sheet
006239	129-Wnt11^tm1Amc/J	Cryopreserved - Ready for recovery
	Mice heterozygous for this targeted mutation are viable and fertile with normal kidney size and histology. Homozygotes exhibit some embryonic lethality and will die by 2 days post partem. While the cause of death is unclear, these neonates have kidney hypoplasia and reduction of glomeruli. RT-PCR analysis of kidney RNA shows the expected truncated transcript. Homozygotes exhibit ureteric branching morphogenesis defects between embryonic day 11.5-12.5 (T-stage) associated with a reduction in mesenchymal Gdnf expression. These Wnt11 mutant mice may be useful in studies of kidney development, including ureteric bud branching morphogenesis, and Wnt superfamily embryogenesis.
002866	129-Wnt4^tm1Amc/J	Cryopreserved - Ready for recovery

008243	129;B6-Tff3^tm1Dkpy/J	Cryopreserved - Ready for recovery
	Mice homozygous for this intestinal trefoil factor (ITF or Tff3) mutant allele are viable and fertile with no RNA or protein expression of the targeted gene in the gastrointestinal tract. Homozygous mice exhibit impaired physiological migration of intestinal epithelium to the mucosal surface, have impaired mucosal healing and increased susceptibility to dextran sulfate sodium (DSS)- induced colitis, and are more susceptible to chemotherapy and radiation-induced mucositis. These intestinal trefoil factor (ITF or Tff3) mutant mice may be useful in studying gastrointestinal tract injury (including inflammatory bowel diseases), maintenance of the mucosal barrier, migration and turnover of the intestinal epithelium, and therapies for colon cancer.
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.
007175	129S-Cyp4a14^tm1Jhc/J	Cryopreserved - Ready for recovery
	Mice homozygous for this "Cyp 4a14" mutant allele are viable and fertile. Homozygous deficiency of the targeted gene leads to spontaneous hypertension (more severe in males) that is androgen-sensitive. Homozygotes also exhibit other interrelated metabolic and regulatory effects; increased renal vascular resistance, impaired renal hemodynamics, elevated plasma androgens (5α-dihydrotestosterone (DHT) and testosterone), upregulated Cyp4a12 gene expression, and increased formation of prohypertensive 20-HETE. These "Cyp 4a14" mutant mice may be useful studying kidney function and metabolism, cardiovascular physiology, hypertension, and the relationships between blood pressure, sex hormones, and p450 ω-hydroxylases.
009083	129S-Dvl3^tm1Awb/J	Cryopreserved - Ready for recovery
	Mice that are heterozygous for the targeted mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. Homozygous null mice have a perinatal lethal phenotype. Neonates have breathing difficulties and are often cyanotic. Homozygous embryos exhibit cardiac conotruncal abnormalities such as persistent truncus arteriosis (PTA) and double outlet right ventricle (DORV), and cochlear defects (disoriented stereociliary bundles). This mutant mouse strain may be useful in studies of cardiac development, neural tube formation and development of the inner ear.
008700	129S-Itgb3^tm1Hyn/J	Cryopreserved - Ready for recovery
	Mice that are homozygous for this targeted allele are viable and fertile. No gene product (protein) is detected on the surface of platelets. Significant (50%) embryonic lethality attributed to fetal hemorrhaging and placental defects is observed. Until three weeks of age, additional pup loss may occur due to hemorrhaging in the skin and gastrointestinal tract. Gastrointestinal tract bleeding is commonly observed in adults and is frequently associated with an enlarged spleen. Erythrocyte number, hemoglobin, hematocrits and thrombus formation are all reduced while bleeding time is prolonged. Varying degrees of liver and kidney necrosis are also observed. Although increased numbers of osteoclasts are observed (3.5 fold over that seen in heterozygotes) they appear to be dysfunctional, having a reduced ability to resorb whale dentin in vitro. Mice are osteosclerotic and hypocalcemic. Enhanced tumor angiogenesis and vascular endothelial growth factor-induced blood vessel growth are observed. ..... For more information please see the full phenotype on the strain data sheet
002082	129S-Rb1^tm1Tyj/J	Cryopreserved - Ready for recovery
	Mice homozygous for this targeted mutation die in utero, apparently from a failure to produce erythrocytes in the liver, demonstrating that the endogenous gene is essential for normal development. Heterozygous mice, which are analogous to human carrier individuals, do not develop retinal tumors, but do develop pituitary tumors by 8 months of age.
007005	129S-Scg5^tm1Led/J	Cryopreserved - Ready for recovery
	*The colony at The Jackson Laboratory Repository is on a mixed 129S genetic background and may not recapitulate the phenotype originally described.* The following text reflects the phenotype reported by the donating investigator (Dr. Iris Lindberg) on a "129Sv" genetic background (probably "Taconic Sv129" (129S6/SvEvJ)). While heterozygotes are viable and fertile, mice homozygous for this mutation (7B2-null) die in prepubertal or pubertal ages (5 weeks) with severe cardio-respiratory failure, convulsions, and hypothermia. No transcripts are detected in brain tissue from the targeted gene. 7B2-null mice are unable to make an active form of prohormone convertase 2 (PC2) and have high circulating corticosterone. Homozygotes on the "129Sv" genetic background exhibit Cushing's-like disease pathologies of liver, pancreas, and pituitary; including pituitary-dependent hyperadrenocorticosteronism, severe hypoglycemia, hyperproinsulinemia, adrenal hypertrophy, pitui ..... For more information please see the full phenotype on the strain data sheet
008238	129S-Sele^tm1Dmil/J	Cryopreserved - Ready for recovery
	Mice homozygous for this E-selectin mutant allele (E^-/-) are viable and fertile with normal circulating leukocyte and platelet profiles. While several transcripts are generated from the mutant locus (due to transcription from the endogenous promoter and/or bidirectional transcription initiated from the pgk promoter in the neo-resistance cassette), these frame-shifted transcripts are non-functional with several predicted stop codons. In contrast to wildtype mice, no protein product is detected in several tissues isolated from LPS-injected homozygous mice. Homozygous mice exhibit abnormal responses to inflammatory stimuli. E-selectin deficiency results in endostatin unresponsiveness (as shown in corneal angiogenesis (mixed B6;129 genetic background) and aortic explant (C57BL/6 congenic background) experiments). These E-selectin mutant mice may be useful in studying inflammation, leukocyte rolling, leukocyte-endothelial adhesion, angiogenesis, and cancer. Of note, E-sel ..... For more information please see the full phenotype on the strain data sheet
007199	129S-Sgpl1^{Gt(ROSA)78Sor}/J	Cryopreserved - Ready for recovery
	Mice homozygous for this mutant allele have reduced size and weight gains after birth and do not survive past 8 weeks of age. Homozygotes occur at a lower than Mendelian ratio (19%) from heterozygote X heterozygote crosses. No gene product is detected in homozygous embryos aged ED9.5-12.5 or in adult gonad. Beta-galactosidase staining pattern mimics the endogenous gene expression pattern in adult intestinal epithelial cells. Homozygous embryos E11.5 to E18.5 exhibit hemorrhages and microaneurisms. Vascular defects persist into adulthood. At 6 weeks of age, mutant mice are anemic (low hemoglobin concentration, reduced red blood cell count, low hematocrit). Mutants exhibit polychromasia (abnormally high number of immature blood cells), kidney defects (blood urea nitrogen level abnormally high, kidney size smaller than wildtype, swollen blood filled glomeruli, reduced number of vascular smooth muscle cells) and abnormalities in palate bone fusion. Homozygotes are infertile. Heterozygote ..... For more information please see the full phenotype on the strain data sheet
011120	129S-Wwtr1^tm1Benj/J	Cryopreserved - Ready for recovery
	Mice that are homozygous for the targeted mutation are viable, fertile, small in size and less active than wildtype controls. Only 10-25% of the expected homozygotes are born. The Donating Investigator reports that breeding homozygous females successfully is uncommon and homozygotes usually succumb before breeding age. No gene product (protein) is detected by Western blot analysis. Homozygotes develop severe polycystic renal disease, with an onset as early as a few weeks of age, and emphysema, with swollen alveoli and breakdown of alveolar walls. Kidney size increases with age. Intestinal and pulmonary inflammation is observed in some homozygotes. Levels of protein polycystin 2 (PC2) is increased in kidney epithelial cells of homozygotes. Histological analysis reveals adipocytes are smaller than wildtype control.
010751	129S.129-Bbs2^tm1Vcs/J	Cryopreserved - Ready for recovery
	Homozygous targeted mutant animals develop obesity that increases with age (cause unknown). They have phenotypes associated with selective cilia dysfunction, including retinopathy, renal cysts, and a deficit in olfaction. Retinal degeneration is characterized by a mislocalization of rhodopsin followed by photoreceptor apoptosis. Male sperm do not develop flagella, causing infertility. Heterozygous crosses produce fewer homozygotes than predicted by Mendelian ratios. Mice also exhibit a defect in social function.
012668	129S.129-Lrp5^tm1Grw/J	Cryopreserved - Ready for recovery
	Homozygous Lrp5 (low density lipoprotein receptor-related protein 5) targeted mutation mice show significantly reduced bone mineral density (BMD) because of a deficiency in osteoblast number and function. Expression of the targeted gene is not detectable in Western blots of liver, kidney and bone. Although the targeting construct was intended to generate a lacZ fusion protein, no such transcripts are detected. Homozygotes are viable, fertile, and are comparable to wildtype littermates in size/weight. This strain may be useful in studies of bone mass and act as a model for Osteoporosis-Pseudoglioma syndrome (OPPG).
009085	129S/Sv-Ret^tm1Cos/J	Cryopreserved - Ready for recovery
	The Ret^- allele (also called ret-k^-, ret-k minus, or c-ret^-) disrupts the region of the ret proto-oncogene (Ret; also called ret-k or c-ret) locus harboring the invariant lysine codon required for Ret kinase activity. Homozygous mice die around 16-24 hours after birth, exhibiting abnormalities in kidney/urinary (renal agenesis/hypodysplasia) and peripheral nervous system development (including sympathetic, parasympathetic, and enteric ganglia), as well as abnormal enteric neural crest cell migration. Because homozygous mice lack enteric ganglia from the hindgut, these mice are also a model of Hirschsprung's Disease.
003082	129S1/SvImJ-Bcl2^tm1Mpin/J	Cryopreserved - Ready for recovery
	Heterozygous mice exhibit expression of beta-galactosidase in populations of large sensory neurons. Mice homozygous for the Bcl2^tm1Mpin targeted mutation do not produce either the a or b form of the Bcl2 protein. Bcl2 is a major regulator of programmed cell death, a critical process in shaping the developing nervous system. The absence of the Bcl2 does not significantly influence the development of motor neurons before or during the main period of physiological cell death. Rather, Bcl2 exerts its influence beyond this period, subsequent to the phase where the majority of neuronal loss normally takes place. Polycystic kidney disease is less severe in this strain compared to the Bcl2^tm1Sjk targeted mutation (Stock No. 002265).
005730	129S6.CB(B6)-Del(1)1Brk Gpi1^b/Gpi1^c/BrkMdfJ	Cryopreserved - Ready for recovery
	Homozygous mice develop microcytic anemia, sparse hair, enlarged spleens and a slight cardiomegaly. Males are infertile. Homozygous mice on the C57BL/6J background develop hydrocephalus and less than 5% survive beyond 6 days. On the 129 background, 95% of mice survive to adulthood.
003292	129S6/SvEvTac-Was^tm1Sbs/J	Cryopreserved - Ready for recovery
	WAS-deficient mice are viable and fertile. Mutant mice show normal lymphocyte development, serum immunoglobulin (Ig) levels and antibody responses. However, peripheral blood lymphocyte counts and platelet numbers are reduced in these mice. Development of chronic colitis is also observed. In vitro, WAS-deficient T cells show markedly impaired proliferative responses to anti-CD3e mediated stimulation. The Was gene is X-linked, so hemizygous males are WAS deficient.
000202	AEJ/Gn-bd/J	Cryopreserved - Ready for recovery

007070	AK.129S7(B6)-Ldlr^tm1Her/J	Cryopreserved - Ready for recovery
	Mice homozygous for the Ldlr^tm1Her mutation have an elevated serum cholesterol level of 200-400 mg/dl and they have very high levels (>2,000 mg/dl) when fed a high fat diet. Normal serum cholesterol in the mouse is 80-100 mg/dl. This mutant mouse strain may be useful in studies of lipid and leptin homeostasis, hyperglycemia, hypercholesterolemia, atherosclerosis, and the effects of diet on skin and coat. 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.
005896	AK.L-Lith1^C57L/J Lith2^C57L/J/989Pgn	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).
002454	B10.129P2(B6)-B2m^tm1Unc/J	Cryopreserved - Ready for recovery
	Mice homozygous for the B2m^tm1Unc targeted mutation have little if any MHC class I protein expression on the cell surface. There are few CD8⁺ cytotoxic T-cells and under some circumstances a compensatory increase in CD4⁺ cytotoxic T-cells. Immune responses involving CD8⁺T-cells are severely deficient providing a model to assess the role of CD8⁺ cells and class I MHC in various experimental systems. Hemachromatosis has been noted in certain genetic backgrounds (Rothenberg BE, Voland JR, Proc Natl Acad Sci USA 93:1529-34, 1996). 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 exact expression pattern of the allele could vary from that originally described. We will modify the strain description if ne ..... For more information please see the full phenotype on the strain data sheet
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.
000477	B10.PA-Pldn^pa H3^e a^t/SnJ	Cryopreserved - Ready for recovery
	This minor histocompatibility 3 (H3^e) congenic strain is also carrying the closely linked pallid mutation (Pldn^pa) as well as the black and tan allele of nonagouti also residing on Chromosome 2. Histocompatibility 3 is one of several loci isolated and identified by Dr. George Snell and co-workers. Histocompatibility gene differences were identified by generating congenic resistant strains and testing for resistance to transplantable tumors. Homozygous pallid mice have pink eyes, a diluted coat color and their viability is slightly reduced. Some homozygotes have slightly abnormal behavior, with abnormal postural responses and head tilting due to the absence of otoliths in the sacculus and utriculus in many but not all mutant mice. The effect of pallid on behavior and otolith morphology appears to be a result of manganese deficiency. Homozygotes display defective mucopolysaccharide synthesis in the otolith matrix and a slower rate of transport of manga ..... 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

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.
000061	B6 x STOCK Nox3^het/J	Cryopreserved - Ready for recovery
	Head tilt (Nox3^het) is an autosomal recessive mutation that can cause abnormal circling behavior and hyperactivity in affected mice. Homozygotes also exhibit a subtle head tilt. Together, the abnormal behavioral phenotype is consistent with that of a vestibular disorder. Evoked auditory brainstem response profiles are normal indicating that the mutants are not deaf. Nox3^het/Nox3^het mutants are unable to sense orientation under water and therefore, cannot swim properly. If held by the tail, Nox3^het/Nox3^het mice retract, rather than extend, their limbs; they also flex ventrally, instead of dorsally as wild type mice do. When lowered quickly by the tail, Nox3^het/Nox3^het mice fail to extend their forelimbs in a normal manner and have difficulty righting themselves if dropped vertically from a short distance. Morphological assessment of the inner ear of homozygotes r ..... For more information please see the full phenotype on the strain data sheet
000577	B6 x STOCK a Oca2^p Hps5^ru2 Ednrb^s/J	Cryopreserved - Ready for recovery

005543	B6(129)-Duox2^thyd/J	Cryopreserved - Ready for recovery

013225	B6(Cg)-Abl1^tm1Goff/J	Cryopreserved - Ready for recovery
	These Abl1^m3 mutant mice possess a floxed neomycin resistance (neo) cassette, containing a stop codon, between exons 10 and 11 of the c-abl concogene 1, non-receptor tyrosine kinase gene, Abl1, resulting in low widespread detection of truncated protein. The allele also introduced five amino acid substitutions (Lysine to Glycine) in the first of three nuclear localization signals (NLS1) in exon 11. Mice that are heterozygous for this allele are viable, fertile, and normal in size. Homozygotes exhibit perinatal death with enlarged hearts. When these Abl1^m3 mutant mice are bred to mice that express Cre recombinase, the resulting offspring will have the neo cassette deleted in the cre-expressing tissue, resulting in restoration of gene function while retaining the NLS1 mutations, and survival past birth. When bred to mice that express a cardiac-specific α-MHC-cre transgene (see Stock No. For more information please see the full phenotype on the strain data sheet
000152	B6(Cg)-Cys1^cpk/J	Cryopreserved - Ready for recovery

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
008149	B6(Cg)-Snord116^tm1.1Uta/J	Cryopreserved - Ready for recovery
	Mice homozygous for this Snord116del (1-loxP or knockout) allele are viable and fertile. As the Snord116 gene cluster is imprinted and expressed only from the paternal allele, mice with paternal inheritance of the deletion lack expression of the targeted Snord116 small nucleolar RNAs (snoRNAs) gene cluster in brain tissues. Similarly, paternal transmission of the mutant allele is required to obtain the mutant phenotype in offspring. Affected heterozygotes (paternal deleted/maternal wildtype) recapitulate a subset of Prader-Willi syndrome (PWS) characteristics, including early-onset postnatal growth retardation, delayed sexual maturation, increased anxiety, motor learning deficit and hyperphagia (but not obesity). Other reported abnormalities include altered metabolic fuel usage, prolonged meal time, and increased levels of circulating ghrelin. These Snord116del mice may be useful in studying growth and feeding regulation, mechanisms of obesity, and pa ..... For more information please see the full phenotype on the strain data sheet
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
008884	B6.129(Cg)-Pnlip^tm1Dyh/J	Cryopreserved - Ready for recovery
	These mice harbor a null mutation of the Pnlip (pancreatic lipase [also called pancreatic triglyceride lipase or PTL]) gene. Homozygous (PTL^-/-) mice are viable and fertile, with no protein expression from the targeted allele observed in pancreatic tissue extracts. Homozygotes exhibit mildly delayed triglyceride (also called triacylglycerol or TAG) absorption after low fat diet feeding, but significantly delayed TAG absorption on a high fat/high cholesterol diet. Homozygous mice have a significant decrease in the rate/amount of cholesterol absorption; attributed to PTL-deficiency delaying dietary fat absorption to the distal small intestine (ileum) where intestinal cholesterol uptake is less efficient. Because PLT-/- mice retain endogenous Cel (carboxyl ester lipase [also called cholesterol esterase]) expression, pancreatic extracts from PTL-/- mice retain robust TAG hydrolytic activity (albeit at lower levels than wildtype mice). This TAG hydrolytic ..... For more information please see the full phenotype on the strain data sheet
013168	B6.129-Ahi1^tm1Jgg/J	Cryopreserved - Ready for recovery
	Homozygous Ahi1 (Abelson helper integration site 1) targeted mutation mice, completely lacking protein expression, are severely runted and frequently die during the neonatal period. Approximately 80% reportedly do not survive to adulthood. Surviving homozygotes exhibit retinal photoreceptor degeneration and also develop a mild, late-onset cystic kidney phenotype. By 5 months of age, the kidneys of homozygotes are smaller compared to littermate controls and show the characteristic histological triad of nephronophthisis: 1) tubular basement membrane abnormalities, including thickening and disintegration with tubular collapse; 2) interstitial cell infiltrate and fibrosis; 3) delayed appearance (1 year) of multiple microcysts and tubular dilation. This strain may be useful as a model of Joubert syndrome.
002831	B6.129-Ahr^tm1Bra/J	Cryopreserved - Ready for recovery
	Mice homozygous for the targeted mutation are viable. Homozygotes do not respond to aryl-hydrocarbon receptor agonists. They show reduced liver weight (25% decrease) delayed extramedullary hematopoiesis, and transient hepatic microvesicular steatosis.
007741	B6.129-Arg1^tm1Rki/J	Cryopreserved - Ready for recovery
	Homozygous AI-mutant mice completely lack hepatic arginase (AI) activity, exhibit hyperagrininemia, severe symptoms of hyperammonemia (ncluding decerebrate posture, lethargy, and high-frequency tremor of the extremities, particularly the tail) and die between 10-14 days after birth. Neural stem cells (NCSs) isolated from homozygous mice exhibit abnormal proliferation and differentiation. In addition, haploid germ cells carrying the disrupted AI allele may be less fit/less effective in forming zygotes compared to wild-type spermatozoa. Heterozygotes are viable and fertile. These AI-mutant mice may be useful in studying metabolic defects of arginase I deficiency, urea cycle (excretion of excess nitrogen), and neuronal development and function.
010727	B6.129-Bbs2^tm1Vcs/J	Cryopreserved - Ready for recovery
	Homozygous targeted mutant animals develop obesity that increases with age (cause unknown). They have phenotypes associated with selective cilia dysfunction, including retinopathy, renal cysts, and a deficit in olfaction. Retinal degeneration is characterized by a mislocalization of rhodopsin followed by photoreceptor apoptosis. Male sperm do not develop flagella, causing infertility. Heterozygous crosses produce fewer homozygotes than predicted by Mendelian ratios. Mice also exhibit a defect in social function. This strain may be useful as a model for Bardet-Biedl syndrome.
003509	B6.129-Blmh^tm1Geh/J	Cryopreserved - Ready for recovery
	Bleomycin (BLM) is a clinically used glycopeptide anticancer agent. It is deaminated in vitro by BLMH. Blmh null mice have decreased viability and fertitility. Only about 65% of the expected number survive the neonatal period. Mice lacking Blmh exhibit variably penetrant tail dermatitis that resembles rodent ringtail. This resembles skin lesions in humans with pellagra, necrolytic migratory erythema, and acrodermatitis enteropathica. Null mice also are more sensitive to acute BLM lethality and develop pulmonary fibrosis following BLM treatment.
006945	B6.129-Chst3^tm1Tmu/J	Cryopreserved - Ready for recovery
	Mice that are homozygous for the targeted mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. No gene product (mRNA) is detected by Northern blot analysis of total spleen RNA. Protein activity is not detected in spleen, lung peripheral lymph nodes, mesenteric lymph nodes or Peyer's patches. At 5 to 6 weeks of age, homozygotes have a reduced number (approximately 68% of wildtype levels) of naive T cells in the spleen. Chondroitin sulfate D is not detected in the brains of adult homozygotes or in the telencephalon and cartilage of homozygote embryos aged 12.5 and 15.5 embryonic days. Brain development is not impaired in mutant mice. This mutant mouse strain may be useful in studies of glycosidic molecular interactions and function. This strain was transferred from the collection of the Consortium for Functional Glycomics.
005704	B6.129-Fbn1^tm2Rmz/J	Cryopreserved - Ready for recovery
	Both heterozygous and homozygous "mgR" mutant mice are viable with no phenotypic abnormalities at birth. The protein expressed from this mutant allele is the same size as wild-type. Skin tissues show an intermediate reduction in transcript levels compared to wild-type and the mg-delta null allele. Thus the "mgR" mutation does not completely ablate gene function (resulting in rapid death). Instead, expression is hypomorphic and conducive to studying the clinical stages precursive to animal lethality. Homozygotes develop medial calcification, the inflammatory-fibroproliferative response, and inflammation-mediated elastolysis in the natural history of dissecting aneurysm and die between 2-6 month of age with Marfan syndrome (MFS)-like manifestations.
004478	B6.129-Foxd1^tm1Lai/J	Cryopreserved - Ready for recovery

004068	B6.129-Idua^tm1Clk/J	Cryopreserved - Ready for recovery
	At birth, mice that are homozygous null for the Idua gene are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. No alpha-L-iduronidase enzyme activity or mRNA is detected. By three weeks of age, homozygous null mice develop a flattened facial profile and a thickening of digits. Defective bone formation is noticeable by fifteen weeks, characterized by a broadening and thickening of long bones. Evidence of lysosomal storage disorder is apparent in cells of the reticuloendothelial system at four weeks. By eight weeks progressive evidence of lysosomal storage is seen in Kupffer cells, splenic sinusoidal lining cells, chondrocytes, glial and Purkinje cells. This animal model is suitable for use in studies investigating the lysosomal storage disorder mucopolysaccharidosis type I (MPS I).
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
003360	B6.129-Jup^tm1Kem/J	Cryopreserved - Ready for recovery
	Plakoglobin Jup null-mutant embryos die from embryonic day 10.5 onward due to severe heart defects. Some mutant embryos develop further, especially on a C57BL/6 background. These mice die around birth, presumably due to cardiac dysfunction, and with skin blistering and subcorneal acantholysis. The skin phenotype in plakoglobin-deficient mice is reminiscent of the human blistering disease, epidermolytic hyperkeratosis.
003334	B6.129-Jup^tm1Ruiz/J	Cryopreserved - Ready for recovery
	Plakoglobin (gamma catenin) is a constituent of the cytoplasmic plaque of desmosomes as well as of other adhering cell junctions, and is involved in anchorage of cytoskeletal filaments to specific cadherins. Homozygous null mutant animals die between days 12 - 16 of embryogenesis due to defects in heart function. The tissue instability correlates with absence of desmosomes in the heart.
003537	B6.129-Kif3a^tm1Gsn/J	Cryopreserved - Ready for recovery
	Ciliary formation appears to be crucial in developing left-right asymmetry in early mouse embryonic development. One of the necessary cilia components is the Kif3a gene product. Homozygous Kif3a knockout mice die at 10 days postcoitum, exhibit randomized establishment of left-right asymmetry and display numerous structural abnormalities. Cardiac looping is randomized, often retarded. Growth is severely retarded with caudal truncation. A neural tube closure defect is also apparent. Scanning electron microscopy indicates the absence of embryonic cilia. A small percentage of heterozygotes exhibit morphological abnormalities.
004603	B6.129-P2rx2^tm1Ckn/J	Cryopreserved - Ready for recovery
	Mice that are homozygous for the targeted mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. No gene product (mRNA or protein) is detected by RT-PCR of intestinal tissue or Western blot analysis of dorsal root and trigeminal ganglia. No immunoreactive staining was detected in ileum by immunohistochemical analysis. Myenteric neurons exhibit altered intracellular electrophysiological action potentials. Fast excitatory postsynaptic potentials (fEPSPs) from mutant S neurons (myenteric plexus interneurons and motorneurons) are inhibited by the nicotinic cholinergic receptor antagonist, mecamylamine. ATP-induced depolarization of isolated mutant S neurons is abolished. Peristalsis is impaired in the ileum. Mutant mice ventilatory response to hypoxia is diminished, as determined by in vitro carotid sinus nerve preparation. ATP and ATP analog (alpha,beta-methyleneATP) elicits a faster discharge (afferent activity) in mutant sinus ner ..... For more information please see the full phenotype on the strain data sheet
006201	B6.129-Scd1^tm1Ntam/J	Cryopreserved - Ready for recovery
	Homozygous mice are viable and fertile. Transcripts from the targeted gene are absent in homozygous liver, eyelid, skin, and white adipose tissues. In addition, the endogenous protein and enzyme activity are absent from homozygous liver tissue. Homozygous mice exhibit cutaneous abnormalities and narrow eye fissure with atrophic sebaceous and meibomian glands. Mutant mice also have reduced body adiposity, increased insulin sensitivity, increased basal and insulin-mediated glucose uptake, and are resistant to diet-induced weight gain. Homozygotes have altered hepatic glycerophospholipid profiles. Homozygous mice are not recommended for breeding as skin lesion severity may prohibit colony success. These mutant mice may be useful in studies of monounsaturated fatty acid synthesis, cholesterol homeostasis, skin disease, obesity, and diabetes. In an attempt to offer alleles on well-characterized or multiple genetic backgrounds, alleles are frequently moved to a genetic background differ ..... For more information please see the full phenotype on the strain data sheet
006879	B6.129-Scd2^tm1Myz/J	Cryopreserved - Ready for recovery
	While heterozygous mice are viable and fertile, mice homozygous for this targeted allele die within 24 hours of birth. Brain tissues from homozygous mice show no expression from the targeted gene. Homozygotes exhibit neonatal lethality with 100% penetrance on this genetic background (less penetrant on 129SvEv genetic background) likely due to severe skin permeability barrier abnormalities. Null mice also have abnormal epidermal morphology and abnormal lipid homeostasis in the skin and liver. These mutant mice may be useful in studying monounsaturated fatty acid synthesis, lipid biosynthesis and metabolism, cholesterol homeostasis, and skin disease, as well as obesity and diabetes.
008201	B6.129-Sepp1^tm1Rfb/J	Cryopreserved - Ready for recovery
	Mice heterozygous for this targeted mutation are viable and fertile. No RNA or selenoprotein P (Se-P) protein expression from the targeted gene is observed in plasma. Homozygous (Sepp1-deficient) mice are viable with altered selenium metabolism rendering them intolerant of low dietary selenium intake and resulting in significantly shortened life span. Homozygotes have lower brain selenium concentrations and develop progressive neurological dysfunction (impaired movement and coordination); the progression of which is preventable (but not reversible) with dietary selenium supplement. Homozygous females are fertile but have difficulty producing and raising pups. Homozygous males have sharply reduced fertility due to flagellar structural defects ("kinked sperm") which, unlike the neurological phenotype, are not prevented with dietary selenium supplement. Sepp1-deficient mice, supplemented with dietary selenium and infected with an African Trypanosomiasis parasite, exhibit increased ..... For more information please see the full phenotype on the strain data sheet
006497	B6.129-Skil^tm2Spw/J	Cryopreserved - Ready for recovery
	Mice homozygous for this targeted mutation (called "Sno^ex1" in the primary reference) are viable and fertile with no reported gross morphological defects. Although the deletion of exon 1 leads to complete absence of the mature full-length protein in immunoblots of brain and embryonic tissues, a truncated 3'-end RNA species is derived from downstream coding sequence. Homozygotes exhibit T cell proliferation/activation defects, which can be rescued by treatment with anti-TGF-beta antibodies or exogenous interleukin-2. Homozygous deletion also results in increased sensitivity to TGF-beta and altered growth properties of cultured mouse embryo fibroblasts (MEFs). These mutant mice may be useful in studies of T cell activation, T cell receptor stimulation and TGF-beta signaling.
002619	B6.129-Tgfb3^tm1Doe/J	Cryopreserved - Ready for recovery
	Mice homozygous for the Tgfb3^tm1Doe mutation are not viable. Mice exhibit cleft palate and possibly developmental defects in the lung.
010725	B6.129-Ugt1^tm1Rhtu/J	Cryopreserved - Ready for recovery
	Mice that are homozygous for the targeted mutation exhibit very high serum levels of unconjugated bilirubin (UCB) and die within the first two weeks of birth. Newborn mice appear jaundiced within 8 hours of birth. Although UCB levels are 50-60% higher than controls, homozygous mice do not exhibit liver or kidney damage. This mutant mouse strain may be useful as a model of Crigler-Najjar Type 1 Disease.
003533	B6.129P-B2m^tm1Unc-rs^2J/J	Cryopreserved - Ready for recovery

003461	B6.129P2(C)-Thra^tm1Ven/J	Cryopreserved - Ready for recovery
	The Thra gene encodes the T3 receptor TRa1 (alpha 1) and a non-T3 bindng product TRa2 (alpha 2), generated by alternative splicing in the C-terminal region. This Thra mutant is deleted for the T3 receptor TRa1 (ALPHA ONE) but retains TRa2. These mutants have an average heart rate 20% lower than that of control animals, prolonged QT_end and QRS durations, body temperatures 0.5 degrees C lower than that of control animals. A mild hypothyrodism is present but is restricted to males.
008235	B6.129P2-Abcg5^tm1Plo/J	Cryopreserved - Ready for recovery
	Mice homozygous for this adenosine triphosphate-binding cassette (ABC) half-transporter G5 mutant allele (Abcg5^-/-) are viable and severely subfertile; the donating investigator reports that males have significantly reduced fertility and females are almost non-fertile. No gene product (mRNA) from the mutant allele is detected in homozygous liver extracts. The expression of beta-galactosidase (lacZ) from the targeted gene is not characterized to date (July 2008). Abcg5-deficient mice exhibit sitosterolemia (high plasma plant sterol concentrations) and macrothrombocytopenia (enlarged platelets caused by defective megakaryocyte development) associated with a near 70% reduction in total number of platelets. Specifically, when allowed ad libitum access to PicoLab Rodent Diet 5053 chow, homozygous mice exhibit strongly elevated plasma levels of β-sitosterol (37-fold) and campesterol (7.7-fold); with further increased levels upon addition of the synthetic ..... For more information please see the full phenotype on the strain data sheet
002679	B6.129P2-Ace^tm1Unc/J	Cryopreserved - Ready for recovery
	Mice homozygous for the Ace^tm1Unc targeted mutation lack both the somatic and testicular isozyme forms of the Ace gene. They show reduced viability prior to weaning. Surviving homozygotes are hypotensive with blood pressures ~35 mmHg lower than normal wildtype silbings. Heterozygous male mice have blood pressures 15-20 mmHg below wildtype siblings. Fertility of homozygous males is greatly impaired. Ten to twelve month old female homoygotes exhibit abnormal renal vessels and tubules, increased renin synthesis accompanied by an abnormal expression pattern.
004159	B6.129P2-Adra1b^tm1Cta/J	Cryopreserved - Ready for recovery
	Mice that are homozygous null for the targeted allele are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. No Adra1b transcripts are detected. The amount of alpha 1 adrenergic recptor binding activity as measured by radioligand assays is dramatically decreased in homozygous liver, heart and cerebral cortex. The blood pressure response induced by increasing doses of phenylephrine is reduced by 45% in comparison to wild type mice. Similarly, phenylephrine-induced contraction of aortic tissue is diminished 25%. This mutant mouse strain represents a model that may be useful in studies related to blood pressure regulation.
002681	B6.129P2-Agt^tm1Unc/J	Cryopreserved - Ready for recovery
	Newborn homozygotes for the targeted disruption of Agt have no obvious pathological defects although only a few survive to adulthood. There are pathological changes in adult kidney and blood vessels. The effect of gene copy number was examined using these mice and C57BL/6J-TgH(Agtdup)1Unc (002690). Plasma angiotensinogen levels increase progressively, although not linearly, from zero in zero-copy (Agt^tm1Unc/Agt^tm1Unc) mice to 145% of normal in four-copy (Agt^dup/Agt^dup) mice. Mice of all genotypes are normal at birth, but most zero-copy animals show pathological changes as adults, the kidneys are normal in the other genotypes. The blood pressures of the one-copy through four-copy animals show significant and almost linear increases of approximately 8mmHg per gene copy despite their normal compensatory mechanisms being intact.
002853	B6.129P2-Cbs^tm1Unc/J	Cryopreserved - Ready for recovery
	The phenotype of cystathionine-beta synthase deficient mice on the C57BL/6J background has not been characterized. Homozygous mice on the mixed B6,129 background suffer from severe growth retardation and a majority of them are dead by 5 weeks of age. Histological examination showed that the hepatocytes of homozygotes were enlarged, multinucleated, and filled with microvesicular lipid droplets. Plasma homocysteine levels of the homozygotes were approximately 40 times normal. Homozygotes may be used as a model for severe homocysteinemia. Heterozygous mutants have an approximately 50% reduction in cystathionine beta-synthase mRNA and enzyme activity in the liver and have twice normal plasma homocysteine levels. Thus, the heterozygous mutants are promising for studying the in vivo role of elevated levels of homocysteine in the etiology of cardiovascular diseases.
003947	B6.129P2-Epb4.2^tm1Llp/LlpJ	Cryopreserved - Ready for recovery
	Homozygotes have mild hereditary spherocytosis with significant reduction of red blood cell counts and hematocrits. There is a reduction of the mean corpuscular volume, increase in mean corpuscular hemoglobin concentration, and an approximately 2 fold increase in the percentage of reticuloctyes and spleen weight, but white blood cell counts are normal. Red blood cell membranes are deficient in band 3, although the membrane skeleton appears qualitatively normal by elecron microscopy. Red blood cells of homozygotes also have increased K⁺ and decreased Na⁺ resulting in red blood cell dehydration. Heterozygotes have both normal and intermediate, cup-shaped red blood cells with a lower than normal deformability index, but not as low as in homozygotes.
005802	B6.129P2-Faim2^tm1Dgen/J	Cryopreserved - Ready for recovery
	This targeted mutant was created and characterized by Deltagen, Inc. View phenotypic data developed by Deltagen.
003233	B6.129P2-Fas^tm1Osa/J	Cryopreserved - Ready for recovery
	Mice homozygous for the Tnfrsf6^tm1Osa targeted mutation mice show hyperplasia in the liver in an age-dependent manner. Hepatocytes contain enlarged nuclei characteristic of senescent cells. Lymphadenopathy and splenomegaly in FAS deficient mice are evident at 8 weeks of age. The lymphnodes and spleen become progressively larger, becoming about 10 and 40 times larger than those of wildtype or heterozygotes at 16 weeks of age, respectively.
010949	B6.129P2-Grem1^tm1Rmh/J	Cryopreserved - Ready for recovery
	Mice that are homozygous for the targeted mutation lack kidneys and die within 48 hours of birth. These mice exhibit a single bone in both the forelimb and hindlimb zeuogopod, missing digits and abnormal maintenance of interdigital tissue. Beta galactosidase expression in the embryonic limbs, somites and flank is consistent with the expression of gremlin 1. This mutant mouse strain may be useful in studies of limb patterning and kidney development. In an attempt to offer alleles on well-characterized or multiple genetic backgrounds, alleles are frequently moved to a genetic background different from that on which an allele was first characterized. It should be noted that the phenotype could vary from that originally described. We will modify the strain description if necessary as published results become available.
008313	B6.129P2-Hlx^tm1Rph/J	Cryopreserved - Ready for recovery
	Homozygous null mice have an embryonic lethal phenotype. Homozygous mice on the C57BL/6 and B6;129 mixed background fail to develop past embryonic days 15.5 due to impaired fetal hematopoiesis (anemia, hypoplastic and abnormal development of the liver, hypoplastic gut). Homozygous mice on the FVB/N background survive through embryonic day 18.5 and dead homozygote newborn pups are observed. Late gestation homozygous embryos on the FVB/N background are smaller than wildtype littermates, pale, hydropic (subcutaneous fluid ballooning skin), and have impaired neural crest cell and enteric neuron migration from the stomach to intestine. Mice that are heterozygous for the targeted mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. Naive CD4 T cells from heterozygotes exhibit increased responsiveness to IL-4, resulting in differentiation of more Th2 cells. This mutant mouse strain may be useful in studies of liver and gastrointe ..... For more information please see the full phenotype on the strain data sheet
012922	B6.129P2-Impad1^{Gt(RST634)Byg}/J	Cryopreserved - Ready for recovery
	Homozyous Impad1 (inositol monophosphatase domain containing 1; also called gPAPP) mutant mice die within 10 minutes of birth due to severe respiratory insufficiency and chondrodysplasia. Mutants have shortened limbs due to defects in endochondral ossification which are hypothesized to be due to an undersulfonation of chondroitin and heparin sulfate. No phenotypic differences have been observed between this C57BL/6 background strain and the mixed C57BL/6-129 background strain (Stock No. 012921). This strain may be useful in studies of skeletal development and sulfation.
002830	B6.129P2-Plg^tm1Jld/J	Cryopreserved - Ready for recovery
	Mice homozygous for the Plg^tm1 targeted mutation are viable and fertile. They show a progressive multi-organ pathology and die around 6 months of age. The pathology is characterized by wasting, rectal prolapse, impaired skin wound healing, gastointestinal ulceration, and thrombosis. No details of mammary gland morphology have been provided.
005832	B6.129P2-Ptpro^tm1Dgen/J	Cryopreserved - Ready for recovery
	This targeted mutant was created and characterized by Deltagen, Inc. View phenotypic data developed by Deltagen.
006620	B6.129P2-Scp2^tm1Usee/J	Cryopreserved - Ready for recovery
	Mice homozygous for this targeted mutation are viable and fertile and do not display any gross physical or behavioral abnormalities. No protein product from the targeted gene is detected in liver tissue. Northern blot experiments show a low-intensity signal from a non-functional truncated transcript, however. Histologically, greater numbers of peroxisomes are observed in the livers of these mice. Liver function appears normal based on liver enzyme levels, but cholesterol and triglyceride storage pools are depleted. Hepatic gene expression is altered. Higher expression levels of liver fatty acid binding protein and multiple peroxisomal beta-oxidation enzymes are observed. Whereas plasma insulin and cholesterol concentrations are normal, triglycerides are slightly higher and free fatty acid and glucose concentrations are moderately lower in homozygous mice. Food intake is significantly higher in homozygotes as compared to control animals. A prononounced accumulation of phytanic acid is o ..... For more information please see the full phenotype on the strain data sheet
002219	B6.129P2-Tgfa^tm1Ard/J	Cryopreserved - Ready for recovery
	Mice homozygous for the Tgfa^tm1Ard mutation develop normally, are of normal size, weight, and health, and are fertile. They display a pronounced waviness in the coat and whiskers, and dramatic derangement of the hair follicles. Older homozygous mice occasionally show some corneal inflammation that may be the result of a defect in wound healing.
005429	B6.129S-Gpam^tm1Rcol/J	Cryopreserved - Ready for recovery
	Mice that are homozygous for the targeted mutation are viable, fertile, and do not display any gross behavioral abnormalities. No gene product (mRNA) is detected by Northern blot analysis. Enzyme activity levels in liver tissue are negligible. Residual activity is due to the inactivated microsomal isoform. Homozygotes exhibit reduced body weight. Female homozygotes weigh 20% less than wildtype controls at age 10 months. Male homozygotes do not exhibit as significant a weight reduction. Gonadal fat pad mass is reduced. Liver triacylglycerol and plasma lipid levels are reduced by 37% and 15% respectively. Very low density lipoprotein (VLDL) triacylglycerol level and secretion are decreased. Hepatic triacylglycerol fatty acid and phospholipid fatty acid compositions are abnormal with diminished palmitate content. F2 mice on a 50% C57BL/6J and 50% 129SvEv genetic background were used in all of the experiments described in the primary reference. This mutant mouse strain may be useful in stu ..... For more information please see the full phenotype on the strain data sheet
002463	B6.129S-Itga4^tm1Hyn/J	Cryopreserved - Ready for recovery
	Mice homozygous for the Itga4^tm1Hyn targeted mutation die during embryonic development. Homozygous mutant embryos fail to fuse the allantois with the chorion during placentation. There is a defect in the epicardium and coronary vessels results in in utero cardiac hemorrhage; also known as CD49D, VLA-4.
002274	B6.129S-Itga5^tm1Hyn/J	Cryopreserved - Ready for recovery
	Mice homozygous for the Itga5^tm1Hyn targeted mutation die during embryonic development. Homozygous mutant embryos exhibit defects in the vasculature of the yolk sac and the embyro as well as severe defects in posterior and extraembryonic mesoderm. Implantation and initiation of gastrulation and neurulation is normal. There is normal development of notochord, somite and considerable development of brain, optic and otic anlagen and branchial arches.
005669	B6.129S-Runx1^tm1Spe/J	Cryopreserved - Ready for recovery
	Heterozygous mice are viable, fertile, devoid of hemorrhagic lesions, and exhibit mild hematopoietic impairment. Mice that are homozygous for the targeted mutation have an embryonic lethal phenotype; animals are alive at embryonic day 11.5, but start dying at embryonic day 12.5. Embryos exhibit extensive hemorrhagic lesions in the central nervous system including the intraventricular regions and metencephalon as well as segmental bleeds at the VII-VIII cranial nerve complex, cervical, thoracic, and caudal regions. At embryonic day 10.5, symmetrical and bilateral necrosis preceding hemorrhage is observed in homozygotes. Homozygous disruption of the endogenous gene completely blocks definitive erythropoiesis, myelopoiesis, and lymphopoiesis. This mutant may be useful in leukemia studies as disruption of the human homolog of this gene is associated with many different leukemias.
005963	B6.129S1-Csf2rb2^tm1Cgb Csf2rb^tm1Clsc/J	Cryopreserved - Ready for recovery
	Mice homozygous at both loci are viable and fertile with no behavioral abnormalities. Steady state hematopoiesis is normal. Bone marrow from homozygous mice fail to exhibit any cellular responses to GM-CSF, IL-5, or IL-3. Like the similar strain (Stock No. 005940; Csf2rb^tm1Cgb), double homozygous mice exhibit eosinopenia, increased surfactant accumulation in lung tissue and pulmonary alveolar proteinosis (PAP), infection resistance, and attenuated tissue repair after injury. This mutant may be useful in studies of PAP, lung physiology and disease, surfactant homeostasis and metabolism, innate immunity, cytokine signaling, myoproliferative disease, hematopoietic cell populations requiring IL-3, GM-CSF, or IL-5 for development and function, and models of ischemic, traumatic, toxic, and inflammatory injuries.
005940	B6.129S1-Csf2rb^tm1Cgb/J	Cryopreserved - Ready for recovery
	Homozygous mice are viable and fertile with no behavioral abnormalities. In response to GM-CSF, bone marrow and splenocytes from homozygous mice fail to exhibit proliferation, enhanced survival in vitro, or synergistic interaction with M-CSF. They also fail to proliferate in response to IL-5. IL-3 binding and responses are unaffected. Cell composition in thymus, spleen, bone marrow, and lymph node is not significantly altered. Circulating eosinophils are dramatically reduced in blood with lesser reduction in bone marrow and tissues. Homozygous mice develop pulmonary peribronchovascular lymphoid infiltrates and areas resembling pulmonary alveolar proteinosis (PAP). Consistent with this, mutant mice have greatly increased surfactant protein-B and D accumulation in lung/airway tissue, no attenuation of saturated phosphatidylcholine with advancing age, and high levels of GM-CSF in bronchoaveolar lavage fluid. Homozygous mice are resistant to intradermal Leishmania major infection an ..... For more information please see the full phenotype on the strain data sheet
012768	B6.129S1-Gnai2^tm1.1Rneu/J	Cryopreserved - Ready for recovery
	A G184S point mutation was created in the Gnai2 (guanine nucleotide binding protein (G protein), alpha inhibiting 2; also called Gαi2) gene which disrupts interactions with regulator of G protein signaling (RGS) proteins that normally deactivate Gα G protein signals. A complex phenotype affecting multiple organ systems (heart, myeloid, skeletal, and central nervous system) can be observed. Homozygous mice and their cardiocytes exhibit enhanced muscarinic (M₂) but not adenosine (A₁) receptor-mediated responses. Isoproterenol-stimulated beating rates of heterozygous and homozygous hearts are significantly more sensitive to inhibition to carbachol than are those of wildtype mice. Homozygous mice show slightly reduced adiposity. Unlike females, males placed on a high-fat diet are resistant to weight gain and have decreased body fat as compared to wildtype mice. Both males and females exhibit enhanced insulin sensitivity (protected f ..... For more information please see the full phenotype on the strain data sheet
007016	B6.129S1-Irak3^tm1Flv/J	Cryopreserved - Ready for recovery
	Homozygous Irak3 (interleukin-1 receptor-associated kinase 3; also called IRAK-M) deficient mice develop severe osteoporosis, which is associated with the accelerated differentiation of osteoclasts, an increase in the half-life of osteoclasts, and their activation. Mice also exhibit increased cytokine production upon TLR/IL1 stimulation and bacterial challenge, and show increased inflammatory responses to bacterial infection. Endotoxin tolerance is significantly reduced. Absence of gene expression was confirmed by Western blot using an antibody directed against the C terminus of the gene. Homozygotes are viable and fertile.
006221	B6.129S1-Lyve1^tm1Lhua/J	Cryopreserved - Ready for recovery
	Homozygotes are viable and fertile, and produce normal-sized litter. No gross phenotypic or behavioral abnormalities have been reported, even in older (2 year old) mice. Homozygous mutants express neither endogenous RNA or protein in liver tissue. Lymphatic capillary vessel morphology in the liver and intestines of homozygous mice is abnormal, with vessels having distended or rounded lumens in contrast to the smaller, typically collapsed, irregular shapes observed in wildtype controls. Intradermal interstitial-lymphatic flow also is increased. Syngenic tumor cell transplants into grow more rapidly and robustly in homozygous mutant mice compared with transplants into wildtype mice, and develop porous interstitial spaces. These mutant mice may be useful in studies of structural and functional characteristics of the lymphatic system, cell-surface retention sequence (CRS) motif-containing growth factor secretion, autocrine and paracrine regulation of cell growth, as well as of cancer and t ..... For more information please see the full phenotype on the strain data sheet
009387	B6.129S1-Osr1^tm1Jian/J	Cryopreserved - Ready for recovery
	The Osr1^tm1Jian (Odd1-LacZ) mutation abolishes endogenous gene function and expresses a β-galactosidase fusion protein (fused in-frame with the N-terminal 16 amino acid residues of the endogenous protein). Under control of the upstream promoter/enhancer elements, lacZ expression is directed to the same tissues as the wild-type gene (for example, β-galactosidase expression during embryogenesis is detected at E7.5 in the intermediate mesoderm, is expanded to the gut endoderm, lung bud mesenchyme and myocardial cells by E9.5, and is activated in developing branchial arches and limb buds by E10.5). Almost all (`95%) of homozygous mice die in utero between E11.5-E12.5 from circulation distress; exhibiting malformed atrial septum, dilated atria with hypoplastic venous valves, and blood backflow from the heart into systemic veins. Homozygotes also exhibit complete agenesis of adrenal glands, metanephric kidneys, gonads, and defects in pericard ..... For more information please see the full phenotype on the strain data sheet
003462	B6.129S1-Thrb^tm1Df/J	Cryopreserved - Ready for recovery
	Mice homozygous for the Thrb^tm1Df targeted mutation are viable and fertile displaying normal growth rates. Homozygous mutant mice exhibit goiter and elevated levels of both thyroid hormone and thyroid stimulating hormone. Defects in liver responses to thyroid hormone and subtle behavioral abnormalities are observed. The mice fail to develop normal hearing, as assessed by impaired auditory-evoked brainstem responses, and are susceptible to audiogenic seizures. This strain provides a recessive model for the human syndrome of generalized thyroid hormone resistance (GTHR).
002612	B6.129S2-Bmp4^tm1Blh/J	Cryopreserved - Ready for recovery
	Mice homozygous for the Bmp4^tm1Blh targeted mutation mutation die early in embryogenesis. Fifteen to twenty percent of heterozygous mice show developmental defects including polydactyly, craniofacial defects, and cystic kidneys. Heterozygotes have also been reported to show eye abnormalities.
008841	B6.129S2-Ccrn4l^tm1Bjc/J	Cryopreserved - Ready for recovery
	Mice homozygous for this Nocturnin (Ccrn4l or Noc) targeted mutation are viable and fertile, with no detectable Noc protein made from the targeted gene. Homozygotes are resistant to diet-induced obesity and remain lean on high-fat diets, with lower body weight and reduced visceral fat. Unlike lean lipodystrophic mouse models, Noc-deficient mice do not have fatty livers (hepatic steatosis) and do not exhibit increased activity or reduced food intake. In addition to changes in glucose tolerance and insulin sensitivity, homozygous mice may also have deficits in lipid metabolism or lipid uptake. Nocturnin-deficient mice may be useful in studying resistance to diet-induced obesity, physiologic rhythms downstream of the circadian clockwork, and post-transcriptional regulation of genes necessary for nutrient uptake, metabolism, and storage.
008698	B6.129S2-Itgb3^tm1Hyn/J	Cryopreserved - Ready for recovery
	Mice that are homozygous for this targeted allele are viable and fertile. No gene product (protein) is detected on the surface of platelets. Significant (50%) embryonic lethality attributed to fetal hemorrhaging and placental defects is observed. Until three weeks of age, additional pup loss may occur due to hemorrhaging in the skin and gastrointestinal tract. Gastrointestinal tract bleeding is commonly observed in adults and is frequently associated with an enlarged spleen. Erythrocyte number, hemoglobin, hematocrits and thrombus formation are all reduced while bleeding time is prolonged. Varying degrees of liver and kidney necrosis are also observed. Although increased numbers of osteoclasts are observed (3.5 fold over that seen in heterozygotes) they appear to be dysfunctional, having a reduced ability to resorb whale dentin in vitro. Mice are osteosclerotic and hypocalcemic. Enhanced tumor angiogenesis and vascular endothelial growth factor-induced blood vessel growth are observed. ..... For more information please see the full phenotype on the strain data sheet
006187	B6.129S2-Nr4a1^tm1Jmi/J	Cryopreserved - Ready for recovery
	Mice homozygous for this targeted mutation are viable and fertile, with no gross anatomical or behavioral abnormalities. No transcript is detectable in thymus. Following acute neuroleptic administration with dopamine D2 receptor antagonists (haloperidol and/or raclopride), homozygous mice exhibit reduced catalepsy and disrupted neuropeptide responses in the brain. In homozygotes, adrenal expression of Nr4a2 (also called Nurr1) is increased threefold following LPS challenge. Mutant mice may be useful in studies of antipsychotic drug/neuroleptic therapies, schizophrenia, neurobiology, nuclear receptor family transcription pathways, adrenal gland, and steroidogenesis.
002102	B6.129S2-Rb1^tm1Tyj/J	Cryopreserved - Ready for recovery
	Mice homozygous for this targeted mutation die in utero, apparently from a failure to produce erythrocytes in the liver, demonstrating that the endogenous gene is essential for normal development. Heterozygous mice, which are analogous to human carrier individuals, do not develop retinal tumors, but do develop pituitary tumors by 8 months of age. In an attempt to offer alleles on well-characterized or multiple genetic backgrounds, alleles are frequently moved to a genetic background different from that on which an allele was first characterized. This is the case for this strain. It should be noted that the phenotype could vary from that originally described. We will modify the strain description if necessary as published results become available.
008436	B6.129S2-Sell^tm2Hyn/J	Cryopreserved - Ready for recovery
	Mice homozygous for the Sell^tm2Hyn mutation are viable and fertile. They are characterized by hypoplastic lymph nodes because of failure of lymphocytes to roll on high endothelial venules in the nodes. 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.
004802	B6.129S2-Slc34a1^tm1Hten/J	Cryopreserved - Ready for recovery
	Mice that are homozygous for the targeted mutation are viable and fertile, and do not display any gross physical or behavioral abnormalities. No gene product (mRNA or protein) is detected by Northern blot analysis of bone, kidney, liver or lung, or by Western blot analysis of kidney. Homozygotes are smaller in size and have reduced weight compared to wildtype littermates. Secondary ossification defects revealed at weaning are followed by compensatory bone development. Mutant mice exhibit increased urinary excretion of inorganic phosphate and calcium, diet dependent hypercalciuria and hypercalcemia, as well as decreased serum parathyroid hormone levels, increased serum alkaline phosphatase activity, and elevated serum 1,25-dihyudroxyvitamin D. Homozygous mice do not respond to dietary challenges of low inorganic phosphate or parathyroid hormone content. Calcium and inorganic phosphate containing renal stones, nephrocalcinosis, are found in homozygotes at all ages. This mutant mouse stra ..... For more information please see the full phenotype on the strain data sheet
002220	B6.129S2-Tgfb1^tm1Doe/J	Cryopreserved - Ready for recovery
	It has been reported that mice homozygous for Tgfb1^tm1Doe mutation develop normally but die approximately two to three weeks after birth. It was also reported that this strain shows a lower than expected number of homozygous births (~14% from heterozygous matings on a mixed genetic background) suggesting that in utero death may occur (See Husbandry). Homozygous mice usually die within a few days of the onset of a wasting syndrome. Death is due to a massive inflammatory cell response and tissue necrosis. A multifocal mixed inflammatory cell infiltration occurs into numerous organs, particularly the heart and stomach. Heterozygous mice do not differ from normal wildtype littermates. This strain may provide a model for human immune and inflammatory diseases such as autoimmune disease, transplant rejection and graft versus host reactions.
002771	B6.129S2-Tlx1^tm1Sjk/J	Cryopreserved - Ready for recovery

010572	B6.129S2-Tnfsf13b^tm1Msc/J	Cryopreserved - Ready for recovery
	Homozygous (BAFF^-/- or BAFF KO) mice are viable and fertile. The BAFF knockout mutation has a tailless human CD2 reporter gene inserted into the Tnfsf13b (BAFF) locus that abolishes endogenous BAFF expression. Homozygous mice exhibit abnormal B cell development and function, resulting from significant loss of mature B cell (B220⁺) populations in lymph nodes, peripheral blood and bone marrow, as well as attenuated antibody responses to both T cell-dependent and T cell-independent type II antigens. Homozygous also have splenic deficiencies (mass, marginal zone B cells and follicular B cells), and decreased total serum immunoglobulin in each subclass (with the exception of immunoglobulin A [IgA] which was only moderately reduced). No loss of marrow pre-B cells, marrow pro-B cells, or CD3⁺ T cells are reported with BAFF-deficiency. Heterozygous mice have moderately reduced serum IgG subclasses and IgM. These BAFF-mutant mice may be useful in studyin ..... For more information please see the full phenotype on the strain data sheet
009105	B6.129S4-Asgr1^tm1Sau/SaubJxmJ	Cryopreserved - Ready for recovery
	These mice harbor a targeted mutation of the asialoglycoprotein receptor 1 (Asgr1; also known as hepatic lectin-1 [HL-1]) locus that abolishes endogenous gene expression. Homozygous mice (Asgr1-/- mice) are viable and fertile, with no plasma asialoglycoprotein or platelet level abnormalities. Asgr1-/- mice have impaired hepatic clearance of asialoglycoproteins (exogenous desialylated glycoproteins). Homozygous mice also exhibit altered von Willebrand factor (vWF) levels (increased plasma vWF and reduced hepatocyte-associated vWF). Asgr1-deficiency is associated with reduced bleeding time and enhanced platelet survival. When injected with Streptococcus pneumoniae, homozygous mice have increased susceptibility to infection and mortality (severe intravascular coagulation due to impaired clearance of prothrombotic components: platelets and vWF desialylated by the bacterium's neuraminidase are not eliminated from circulation). These Asgr1 mutant mice may be useful in st ..... For more information please see the full phenotype on the strain data sheet
003824	B6.129S4-Dgat1^tm1Far/J	Cryopreserved - Ready for recovery
	Mice homozygous for the Dgat1^tm1Far targeted mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities however, homozygous mutant females exhibit a complete absence of milk production, necessitating the use of foster mothers. Dgat1 mRNA is undetectable by Northern blot analysis, and DGAT enzyme activity in a variety of tissues is either absent or shows only residual levels. Surprisingly, in DGAT deficient mice triglyceride levels and fasting serum triglycerides levels are similar to wildtype controls. Although homozygotes do not differ in body weight compared to age- and sex-matched controls, total fat pad weight is reduced. Tissue triglyceride levels are reduced 30-40% in white adipose tissue and muscle. Liver triglyceride levels tend to be lower in chow-fed DGAT-deficient mice, but high-fat feeding leads to significantly lower liver triglycerides. Changes in tissue triglyceride levels are associated with in ..... For more information please see the full phenotype on the strain data sheet
002939	B6.129S4-Insr^tm1Dac/J	Cryopreserved - Ready for recovery
	Mice homozygous for the Insr^tm1Dac targeted mutation die 48-72 hours after birth due to diabetic keto-acidosis which causes weight loss by dehydration and protein wasting. There are no apparent gross anatomical or morphological changes. Embryonic growth is unaffected. Heterozygotes exhibit a form of mild insulin resistance.
009603	B6.129S4-Kcnn3^tm1Jpad/J	Cryopreserved - Ready for recovery
	The SK3^T mutant allele has a tetracycline-based genetic switch inserted into the 5' UTR of the targeted gene, just upstream of the translation initiation site. This genetic switch harbors both the tetracycline-controlled transactivator protein (tTA) as well as the tetracycline operator (tetO; also called tetracycline-responsive element (TRE) or tet-operator); allowing transcription of the downstream Kcnn3 locus to be blocked by administration of tetracycline (or its analog doxycycline (dox)). SK3-tTA homozygotes (SK3^T/T) exhibit approximately three-fold overexpression of SK3 before dox treatment, and SK3 expression is effectively eliminated by addition of dox. Heterozygous mice exhibit similar expression from both their wild-type and SK3^T mutant allele before dox treatment, and no SK3 expression from the mutant allele during dox treatment. In the absence of dox, homozygous mice exhibit abnormal respiratory responses to hypoxia. Homozygous ..... For more information please see the full phenotype on the strain data sheet
005897	B6.129S4-Ppard^tm1Rev/J	Cryopreserved - Ready for recovery
	These mice possess loxP sites on either side of exon 4 of the targeted gene. Mice that are homozygous for this allele are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. When bred to mice with a cre recombinase gene under the control of a promoter of interest, exon 4 of the targeted gene is deleted in the tissue of interest, leading to premature termination of the translation product upstream of the DNA binding domain. This strain may be useful in generating tissue-specific mutants of the floxed allele for use in studies including embryo development, adipocyte physiology, fat metabolism and storage, inflammation, and cancer.
005901	B6.129S4-Ppard^tm2Rev/J	Cryopreserved - Ready for recovery
	Heterozygous mice are viable and fertile. All homozygous mice die in utero. Macrophages homozygous for this mutation have no transcriptional response to very low-density lipoprotein treatment. No evaluation of lacZ expression is published. The donating investigator reports homozygous mice on this background have a similar, albeit earlier, embryonic phenotype as the exon 4 deleted mutants described in other publications (Barak PNAS 2002 99:303-8, Chawla PNAS 2003 100:1268-73, and Lee Science 2003 302:453-7). Heterozygous mice or homozygous embryo-derived cells may be useful in studies of embryo development, adipocyte physiology, fat metabolism and storage, inflammation, and cancer.
003322	B6.129S4-Soat1^tm1Far/J	Cryopreserved - Ready for recovery
	Mice homozygous for the Soat1^tm1 targeted mutation display tissue specific decreases in cholesterol esterification. Fibroblasts and adrenal membranes of homozygous mutant mice show diminished cholesterol esterification and markedly reduced cholesterol ester levels in adrenal glands and peritoneal macrophages. However, the livers of SOAT1-deficient mice contained substantial amounts of cholesterol esters and exhibited no reduction in cholesterol esterification activity. These findings support the presence of more than one form of esterification enzyme in mammals. A second sterol O-acyltransferase gene (Soat2), expressed in the liver and intestine, has subsequently been identified in mice and humans.
007147	B6.129S4-Soat1^tm1Far/Pgn	Cryopreserved - Ready for recovery
	Phenotypically similar to B6.129S4-Soat1^tm1Far/J (003322), B6.129S4-Soat1^tm1Far/Pgn has a reduced congenic interval making the closely linked Apoa2 gene of C57BL/6 rather than 129S4 origin. The donating investigator indicates that HDL levels exhibit a 24% increase on high fat diet in this strain in contrast to the 73% increase observed in the original strain. Triglyceride levels are unchanged. This strain may be useful in atherosclerosis research.
008076	B6.129S4-Traf1^tm1Tsi/J	Cryopreserved - Ready for recovery
	Mice homozygous for the TRAF1 mutant allele (TRAF1^-/-) are viable and fertile. No protein expression from the targeted gene is observed in CD40-stimulated splenocytes isolated from homozygous mice. Homozygous mice on a C57BL/6 congenic background (B6-TRAF1^-/-) have abnormal memory T cell survival and impaired influenza virus CD8 T cell responses. Activated B6-TRAF1^-/- T cells accumulate increased levels of proapoptotic BH3-only family member Bim, particularly the most toxic isoform, Bim_s. The donating investigator reports that B6-TRAF1 mutant mice may be difficult to breed and gain more weight than BALB/c-TRAF1 mutant mice. Homozygous mice on a BALB/c congenic background (BALB/c-TRAF1^-/-) exhibit acute liver injury and elevated serum liver enzymes following intratracheal TNF-alpha treatment. Furthermore, activated TRAF1^-/- T cells have significantly increased expression of Th2 cytokines (IL-4, IL-5 and IL-13) that el ..... For more information please see the full phenotype on the strain data sheet
009640	B6.129S4-Vip^tm1Clw/J	Cryopreserved - Ready for recovery
	Mice that are heterozygous for the targeted mutation are viable and fertile. No gene product (protein) is detected by immunohistochemical analysis of homozygotes. Homozygous females are subfertile, 15-20% of homozygous females can have litters. Homozygotes exhibit impaired circadian rhythm generation, muscle weakness, increased motor activity and increased induced airway hyperresponsiveness and inflammation. In constant darkness, homozygotes initially display shortened circadian period. Some homozygotes develop arrhythmic circadian periods after extended darkness. Heterozygotes also display abnormal circadian rhythm. Homozygotes have both gross and microscopic anatomical abnormalities of the gastrointestinal tract. 10-15% of homozygotes die of stenosis of the gut before one year of age. Male homozygotes exhibit moderate right ventricular (RV) hypertension, RV hypertrophy, thickened and remodeled pulmonary arteries, perivascular inflammation of smaller pulmonary vessels and airways, red ..... For more information please see the full phenotype on the strain data sheet
002719	B6.129S4-Wt1^tm1Jae/J	Cryopreserved - Ready for recovery
	Mice homozygous for the Wt1^tm1Jae targeted mutation die between embryonic days 13 and 15. They fail to develop a kidney or gonads. The hearts of homozygous mutant mice also fail to develop properly. Hearts are smaller than wildtype controls and possess a rounded apex. The right ventricular wall is thin and the left ventricle is reduced in size. There appears to be normal development of the aortic, pulmonary, mitral and tricuspid valves. Development of the diaphragm is also incomplete resulting in incomplete separation of the thoracic and abdominal cavities. Homozygous mutant lungs are also markedly smaller than wild type lungs. Heterozygous mice appear normal and show no tumor development (mice followed until 10 months of age).
006447	B6.129S6(CBA)-Cebpa^tm1Dgt/J	Cryopreserved - Ready for recovery
	Mice carrying this C/EBPalpha "floxed" allele (C/EBPalphaF) are viable and fertile. The floxed allele functions similarly to the wildtype allele. In mice homozygous for C/EBPalpha^F and expressing an interferon-inducible Cre recombinase (introduced by breeding to a cre-expressing strain; see Stock No. 003556), C/EBPalpha activity is disrupted, leading to defective myeloid cell development, increased hematopoietic stem cell repopulating activity, and significantly increased myeloblast population in the bone marrow compartment. In combination with an appropriate Cre transgenic strain, these mutant mice may be useful in studies of hematopoietic cell (e.g. myeloid and basophil progenitor cell) development and function, cancer (e.g. acute myeloid leukemia), and alveolar cell differentiation.
013245	B6.129S6(Cg)-Npsr1^tm1Bhk/J	Cryopreserved - Ready for recovery
	In this strain, exon 4 of the endogenous neuropeptide S receptor 1 (Npsr1 or GPRA) gene is replaced with a neo cassette, abolishing ligand binding function. Homozygous (GPRA^-/-) mice are viable, fertile, normal in size, and do not display any gross physical or behavioral abnormalities. GPRA^-/- mice on a 129/SvEv genetic background show an attenuated response when challenged with the cholinergic receptor-dependent bronchoconstricting agent thromboxane. These GPRA mutant mice may be useful for studying the induction of asthma-like disease, smooth muscle constriction, and airway function. In an attempt to offer alleles on well-characterized or multiple genetic backgrounds, alleles are frequently moved to a genetic background different from that on which an allele was first characterized. It should be noted that the phenotype could vary from that originally described. We will modify the strain description if necessary as published results become avai ..... For more information please see the full phenotype on the strain data sheet
004125	B6.129S6-Abcb11^tm1Wng/J	Cryopreserved - Ready for recovery
	Mice that are homozygous null for the Abcb11 gene suffer from lowered rates of viability and fertility. No Abcb11 gene product (mRNA or protein) is detected in liver tissue. Homozygotes display growth retardation with body weights being 80% that of wildtype littermates at weaning. Lower body weights persist throughout life. Ultrastructural changes are noted in the hepatic canaliculi (lumen dilation, microvilli loss, and accumulation of biliary material). Hepatocytes exhibit increased numbers of peroxisomes, lysosomes and lipid droplets with a concomitant decrease in stored glycogen. Although average bile flow is not significantly reduced, secretion of major hydrophobic bile salts is clearly impaired. An increase in the secretion of tetra-hydroxylated bile acids, cholesterol and phospholipids is observed. These mice provide a model for studying intrahepatic cholestasis and the mechanisims associated with lipid homeostasis.
006413	B6.129S6-Erap1^tm1Luc/J	Cryopreserved - Ready for recovery
	Homozygous mutant mice are viable and fertile. The absence of mRNA in splenocyte and of protein in hepatocyte lysates is confirmed via RT-PCR and immunoblot, respectively. Homozygous mutants display reduced cell surface expression of MHC class Ia and Ib molecules, altered presentation of self- and foreign-antigens, and defective CD8⁺ T-cell responses against class I-presented antigens. These mutant mice may be useful in immunological studies exploring ERAP1's role in vivo in optimizing peptides for presentation by MHC class I molecules. 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.
007907	B6.129S6-H2-T23^tm1Cant/J	Cryopreserved - Ready for recovery
	Mice homozygous for this Qa-1-deficient allele are viable and fertile. Targeted deletion of exons 1-3 of the H2-T23 gene is predicted to completely abrogate Qa-1 expression. Homozygous thymocytes and splenic T cells do not express Qa-1 following concanavalin A stimulation. Qa-1-deficient mice develop exaggerated secondary CD4⁺ T cell responses to foreign- and self-peptides; this phenotype is attributed to a lack of Qa-1-restricted CD8⁺ regulatory T cells normally associated with abrogating the secondary responses of CD4⁺ T cells. As such, homozygous mice are not protected from re-induction of experimental autoimmune encephalomyelitis (EAE) and are susceptible to autoimmune disease. These mutant mice may be useful in studying the role of H2-T23 (Qa-1), a non-classical major histocompatibility complex (MHC) class Ib molecule, in both CD8⁺ regulatory T cell activity and protection of activated T cells, as well as autoimmune diseases.
002646	B6.129S6-Nf1^tm1Fcr/J	Cryopreserved - Ready for recovery
	Mice homozygous for the Nf1^tm1Fcr targeted mutation die during embryonic development due to severe heart malformation (~E13). They also show hyperplasia of neural crest-derived sympathetic ganglia. Heterozygotes do not exhibit any overt disease symptoms. However, as noted in a another targeted mutation deleting the same exon of the Nf1 gene (Jacks, et al., Nat Genetics 7:353-361, 1994), they do show a predisposition to many types of tumors and were recently shown to have deficits in learning and memory (Silva, et al., Nat Genetics 15:281-284, 1997).
009082	B6.129S6-Osta^tm1Pda/J	Cryopreserved - Ready for recovery
	Homozygous (Osta^-/-) mice are viable and fertile, with no mRNA or protein expression from the targeted allele. Homozygotes exhibit a small growth deficit that is ameliorated after weaning, partial impairment of intestinal bile acid absorption (impaired basolateral transport of bile acids out of the ileal epithelial cell), altered regulation of bile acid synthesis, a significantly reduced bile acid pool, intestinal lengthening and intestinal hypertrophy. Homozygous mice also have reduced hepatic Cyp7a1 expression that is inversely correlated with ileal expression of fibroblast growth factor 15 (FGF15). These mutant mice may be useful in studying cholesterol metabolism, intestinal drug absorption, intestinal bile acid absorption, bile acid synthesis, and cholesterol and bile acid homeostasis. In an attempt to offer alleles on well-characterized or multiple genetic backgrounds, alleles are frequently moved to a genetic background different from that on which ..... For more information please see the full phenotype on the strain data sheet
009679	B6.129S6-Pkhd1^tm1Cjwa/J	Cryopreserved - Ready for recovery
	Mice that are homozygous for the targeted mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. A mutant gene product (mRNA), that skips exon 2 using the splice donor of exon 1 and the splice acceptor of exon 3, is detected by RT-PCR of kidney and liver tissue. By 9 months of age, homozygotes develop age progressive fibrocystic liver disease and cystic dilation of the kidney. Some homozygotes develop enlarged cystic pancreas. Histological analysis of females 3 months of age reveals dilated proximal convoluted tubules with attenuated brush border. This mutant mouse strain may be useful in studies of Polycystic Kidney Disease.
003336	B6.129S7-Cdkn1c^tm1Sje/J	Cryopreserved - Ready for recovery
	Mice lacking the Cdkn1c gene have altered cell proliferation and differentiation, leading to abdominal muscle defects; cleft palate; endochrondral bone ossification defects with incomplete differentiation of hypertrophic chondrocytes; renal medullary dysplasia; adrenal cortical hyperplasia and cytomegaly; lens cell hyperproliferation and apoptosis. The targeted gene is imprinted. The phenotype differs depending on whether the targeted allele is transmitted from the dam or the sire; maternal inheritance of the null allele is lethal. This is a model for the human Beckwith-Wiedemann syndrome.
002127	B6.129S7-Icam1^tm1Bay/J	Cryopreserved - Ready for recovery
	Mice homozygous for the Icam1^tm1Bay targeted mutation are viable and fertile but lack surface ICAM1 expression. There is a mild increase in neutrophil count and impaired neutrophil emigration. Contact hypersensitivity is suppressed. A severe defect in T-cells does not allow function as stimulator cells in the mixed lymphocyte reaction. Mice from this targeted mutation express residual amounts of ICAM1 in the thymus and lung. ICAM1 expression is the result of alternative splicing of RNA causing the mutated exon 5 to be skipped causing three different alternative isoforms. Additional isoforms have been identified in wildtype mice. All alternatively spliced isoforms of ICAM1 detected are missing complete extracellular immunoglobulin domains. In addition, all, except one, retain the ability to bind to the counter-receptor LFA1.
005643	B6.129X-Gusb^tm1Sly/J	Cryopreserved - Ready for recovery
	Homozygous mice are viable but have reduced neonatal survival. Homozygotes are infertile, but fertility can be restored with enzyme replacement therapy. No residual enzyme activity is observed. Homozygous mice are indistinguishable from heterozygous and wild type mice at birth, but show distinct growth retardation, shortened extremities, and facial dysmorphism observable at wean and increasing in severity with age. Long bones of the lower extremities are shortened, broad, and sclerotic. Compared to wild-type, this model has increased urinary glycosaminoglycan and secondary elevation of other lysosomal storage enzymes. Further, homozygous mice show abundant lysosomal storage in liver, kidney, leptomeningeal cells, cornea, spleen, neurons, and retinal pigment epithelium. The phenotype exhibited by this mutant mouse strain is more severe than that observed in a similarly constructed mutant (Stock No. 005644) which bears a L175F point ..... For more information please see the full phenotype on the strain data sheet
005644	B6.129X-Gusb^tm3Sly/J	Cryopreserved - Ready for recovery
	Homozygous mice are viable but infertile. Fertility can be restored with enzyme replacement therapy. Less than 1% residual enzyme activity is observed. Homozygous mice are indistinguishable from wild type mice at birth, but show distinct growth retardation, shortened extremities, and facial dysmorphism observable at three months with a moderate increase in severity with age. Long bones of the lower extremities are shortened, broad, and sclerotic. Compared to wild-type, this model has increased urinary glycosaminoglycan and secondary elevation of other lysosomal storage enzymes. Further, homozygous mice show abundant lysosomal storage in liver, kidney, leptomeningeal cells, cornea, and retinal pigment epithelium. The phenotype exhibited by this mutant mouse strain is less severe than that observed in a similarly constructed mutant (Stock No. 005643) which bears a E536A point mutation. This strain represents a model of human GUS def ..... For more information please see the full phenotype on the strain data sheet
007682	B6.129X1-Apob^tm1.1Zc/J	Cryopreserved - Ready for recovery
	Mice homozygous for this apoB38.9 allele (apoB^38.9/38.9) are viable with impaired fertility, bearing a premature stop codon at residue 1767 of the targeted gene. As a result, homozygous plasma shows a truncated apoB38.9 as the sole apoB protein. Plasma from heterozygous (apoB^+/38.9) mice have reduced apoB100 and apoB48 compared to wildtype, with apoB38.9 representing 20% of total circulating apoB. This apoB38.9 truncation affects both apoB100 and apoB48 metabolism in mice, and mimics human Familial Hypobetalipoproteinemia (FHBL). Homozygous and, to a lesser extent, heterozygous mice exhibit symptoms of FHBL due to impaired lipoprotein export system/VLDL secretion, including elevated hepatic triglyceride (TG), cholesterol and free fatty acids (FFA), with decreased plasma TG and cholesterol. Because plasma and liver lipid profiles range from mild to severe in populations of heterozygous apoB38.9 mice on a mixed (C57BL/6J;129X1/SvJ) genetic background, apoB^+/38 ..... For more information please see the full phenotype on the strain data sheet
004366	B6.129X1-Brs3^tm1Jfb/J	Cryopreserved - Ready for recovery
	Mice that are homozygous for the targeted mutation are viable, normal in size at birth and do not display any gross physical or behavioral abnormalities. This targeted mutation is X-linked; males bearing the targeted allele display a mutant phenotype. At 15 to 16 weeks of age male mice heterozygous for the mutant allele display increased body weight as compared to wildtype littermates. This mutant mouse strain represents a model that may be useful in studies related to energy metabolism and obesity.
004994	B6.129X1-Camk4^tm1Tch/J	Cryopreserved - Ready for recovery
	Mice that are homozygous for the targeted mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. No gene product (mRNA or protein) is detected by RT-PCR or Western blot analysis. Synaptic plasticity, as assayed by long-term potentiation (LTP) and long-term depression (LTD), in mutant mice is deficient. Homozygotes exhibit diminished contextual and auditory fear memory. Cyclic AMP-responsive element binding protein (CREB) activation by fear conditioning is absent in the amygdala and decreased in the hippocampus. Thymocyte maturation is impaired. Both CD4+ and CD8+, single positive, thymocyte levels are reduced. This mutant mouse strain may be useful in studies examining learning and memory or related to thymocyte development.
008907	B6.129X1-Cd2ap^tm1Shaw/J	Cryopreserved - Ready for recovery
	Homozygous targeted mutant mice begin to show growth retardation at about 3 weeks of age, and die at approximately 6 weeks. Cardiac hypertrophy, splenic and thymic atrophy, and ascites may be found upon postmortem examination. Proteinuria can be detected as early as 2 weeks of age, indicating kidney dysfunction. The predominant kidney pathology involves glomeruli which become sclerotic by 4 weeks. CD2AP protein is not detected in the thymus, kidney, liver or spleen of homozygous targeted animals. Naive and cultured T cells show increased sensitivity to antigen, increased proliferation, increased number of cell divisions and increased apoptosis compared to wild type cells. Heterozygotes show increased susceptibility to glomerular injury by nephrotoxic antibodies or immune complexes.
005626	B6.129X1-Cxcl13^tm1Cys/J	Cryopreserved - Ready for recovery
	Mice that are homozygous for the targeted mutation are viable, fertile and normal in size. No endogenous gene product (mRNA or protein) is detected in spleen or mesenteric lymph node. EGFP is not expressed. Severe, but incompletely penetrant, defects of the inguinal, iliac, axillary, brachial, popliteal, deep cervical, renal, sacral, and parathymic lymph nodes are observed. The lymphoid patch of the cecum is absent and Peyer's patches are severely reduced and typically malformed. This mutant has defective B cell organization, an absence of primary follicle follicular dendritic cells, and reduced B cell LTa1b2 expression in spleen and lymph nodes. This mutant may be useful in B cell, follicular dendritic cell, and/or lymph node development studies.
002099	B6.129X1-Fos^tm1Pa/J	Cryopreserved - Ready for recovery
	Mice homozygous for the Fos^tm1Pa mutation show reduced placental and fetal weights, lack teeth, and have a significant pre-weaning loss of viability. Survivors grow at a normal rate until about 11 days of age when they begin to develop a severe osteopetrosis. They may live as long as 5-7 months. Homozygous mice have delayed or absent gametogenesis and show lymphopenia. They also exhibit behavioral abnormalities, including hyperactivity and diminished response to external stimuli.
006262	B6.129X1-Fut2^tm1Sdo/J	Cryopreserved - Ready for recovery
	Mice that are homozygous for the targeted mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. Homozygous mice have a chinchilla (gray) coat color, while heterozygotes have the typical black coat color expected for the C57BL/6J genetic background. Alpha (1,2) fucosylated glycans are not detected in the uterine epithelia from homozygotes at estrus. Beta galactosidase staining is detected in endocervial and uterine gland mucus secreting cells, stomach foveolar pit cells and chief cells, and colon goblet cells. The pattern of beta galactosidase activity mimics the endogenous expression pattern of the endogenous gene. This mutant mouse strain represents a model of the nonsecretor ABH histo-blood group antigen, which confers resistance to Norwalk virus infection, and may be useful in studies of reproductive biology, gastrointestinal tract epithelium, and the function of fucosylated glycans. This strain was transferred fr ..... For more information please see the full phenotype on the strain data sheet
006199	B6.129X1-Fzd9^tm1Uta/J	Cryopreserved - Ready for recovery
	Mice homozygous for this targeted mutation are viable and fertile, with no gross anatomical abnormalities. Endogenous transcripts are absent in skeletal muscle and testis. Homozygotes exhibit abnormal B-cell development, reduced survival, lymphadenopathy secondary to accumulation of plasma cells, splenomegaly, and accelerated thymic atrophy. Mutant mice do not exhibit any obvious features of Williams-Beuren syndrome (WBS). These mice may be useful in studies of hematopoietic/lymphoid development and function (including B-cell and T-cell development), plasma cell homeostasis, and the Wnt/frizzled signaling pathway. In an attempt to offer alleles on well-characterized or multiple genetic backgrounds, alleles are frequently moved to a genetic background different from that on which an allele was first characterized. This is the case for this strain. It should be noted that the phenotype could vary from that originally published. We will modify the strain description if necessary as ..... For more information please see the full phenotype on the strain data sheet
013547	B6.129X1-Hip1^tm4Tsr/J	Cryopreserved - Ready for recovery
	In the Hip1^LSP-H/P strain, a floxed-STOP cassette causes termination of the endogenous huntingtin interacting protein 1 (Hip1) gene and a human HIP1/PDGFbR (H/P) cDNA fused to another polyA site and a neomycin resistance (neo) cassette, replace endogenous exons 2-7. Heterozygous mice are viable, fertile, and normal in size. These mice exhibit gross micro-ophthalmia and cataracts. When bred to mice that express Cre recombinase, offspring will have the floxed-STOP cassette deleted in the cre-expressing tissue(s), resulting in H/R fusion protein overexpression in cre-expressing cells. The overexpression of H/P mimics the human chromosomal translocation, t(5;7)(q33;q11.2), leading to constitutively active PDGFbR signalling and chronic myelomonocytic leukemia (CMML) development in humans. For example, H/P is able to transform hematopoietic cells to factor-independent growth in culture. When Hip1^LSP-H/P mice are bred to mice tha ..... For more information please see the full phenotype on the strain data sheet
009365	B6.129X1-Mark2^tm1Hpw/J	Cryopreserved - Ready for recovery
	Homozygous targeted mice show and increased metabolic rate, decreased adiposity, resistance to high fat diet-induced weight gain, and insulin hypersensitivity. Western blot analysis demonstrates that expression is eliminated in brain, spleen, kidney and liver, lymph nodes, thymus, white and brown adipose tissues, large and small intestines, stomach. Homozygous pups are born slightly below predicted Mendelian ratios and show both embryonic and postnatal growth retardation as well as increased mortality as compared to wildtype animals. The age of death can range from 3 weeks to several months. Approximately 85% of homozygotes exhibit some combination of immunological disorders between the ages of 5 and 12 months. B and T cell development is normal, but CD4⁺ T cells lacking this protein exhibit a marked upregulation of the memory marker CD44 and produce more gamma interferon and interleukin 4 on stimulation through the T cell receptor in vitro. B cell responses to T ..... For more information please see the full phenotype on the strain data sheet
004202	B6.C3 Pde6b^rd1 Hps4^le/+ +-Lmx1a^dr-8J/J	Cryopreserved - Ready for recovery

000017	B6.C3-A^vy/J	Cryopreserved - Ready for recovery
	Homozygous (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 A^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 agouti phenotype.
000102	B6.C3-Ap3b1^pe/J	Cryopreserved - Ready for recovery

000450	B6.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 C57BL/6J or WB/Re (stock #000454) 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 erythropoiesis, reticulo ..... For more information please see the full phenotype on the strain data sheet
000050	B6.C3Fe-H51 Hps1^ep /ByJ	Cryopreserved - Ready for recovery

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

000204	B6.C3Rl-Lyst^bg/J	Cryopreserved - Ready for recovery
	Mice homozygous for the beige spontaneous mutation (Lyst^bg) 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 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. Syngeneic tumor cells grow better in beige mice than in l ..... For more information please see the full phenotype on the strain data sheet
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
006253	B6.Cg-Ap3b1^tm1.1Sms/J	Cryopreserved - Ready for recovery
	Ap3b1 encodes the beta-3A subunit of the adaptor protein complex 3 (AP-3). Mice that are homozygous for the targeted mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. No Ap3b1 mRNA is detected by Northern blot analysis of spleen and kidney tissue, and beta-3A immunoreactivity is absent in monocytes from homozygous mice. In brain tissue from homozygous mutants, expression levels of the AP-3 beta-3B (beta-NAP), mu-3 and sigma-3 subunit proteins are normal, but expression of the delta-3 subunit protein is reduced. In kidney, no sigma-3 protein is detected, and mu-3 and delta-3 subunit proteins levels are greatly reduced. Homozygotes have a diluted coat color (light gray), which is lighter than the coats of homozygotes carrying the allelic pearl (Ap3b1^pe) spontaneous mutation. Cultured melanocytes from homozygous mutant mice have very few pigment granules. Lysosomal-associated membrane ..... For more information please see the full phenotype on the strain data sheet
000535	B6.Cg-Atp7a^Mo-blo/J	Cryopreserved - Ready for recovery
	Female mice heterozygous for the blotchy alleles (Atp7a^Mo-blo) are viable and fertile. They have irregular patches of light-colored fur. Hemizygous males and homozygous females have reduced viability and many are infertile. Hemizygotes and homozygotes are light all over with no blotching, are usually small, and occasionally have deformed hindlegs. Most hemizygotes and homozygotes have defective elastin in the aorta and usually die with aortic aneurysm. Hemizygous males have enlarged air spaces in the lung (emphysema), probably because of defective elastin and collagen. Skin collagen and aortic elastin have defective crosslinking at the step at which lysine residues are converted to aldehydes. Hemizygous males have a deficiency of noradrenalin in the brain, probably because a deficiency of copper shown to exist in the brain causes defective activity of the enzyme dopamine-beta-hydroxylase. Copper absorption from the gut and hepatic copper concentration are reduced to 6 ..... For more information please see the full phenotype on the strain data sheet
006230	B6.Cg-Cebpa^tm1Dgt Tg(Mx1-cre)1Cgn/J	Cryopreserved - Ready for recovery
	Mice homozygous for this C/EBPalpha "floxed" allele (C/EBPalpha^F) and hemizygous for the Mx1-cre transgene are viable and fertile, and exhibit no abnormalities in the hematopoietic system. In the absence of cre expression, the C/EBPalpha^F allele functions similarly to the wildtype allele. Mx1-Cre transgene expression can be induced by administration of either interferon (alpha or beta) or synthetic double-stranded RNA (such as poly I:C), leading to deletion of the "floxed" gene. Following 3-4.5 weeks of poly I:C treatment, deletion efficiency is greater than 95% in hematopoietic tissues, and C/EBPalpha protein is undetectable in bone marrow. These poly I:C-treated, mice have defective myeloid cell development, increased hematopoietic stem cell repopulating activity, and a significantly increased myeloblast population in the bone marrow compartment. These mutant mice may be useful in studies of hematopoietic cell (e.g. myeloid and basophil progenitor cell) d ..... For more information please see the full phenotype on the strain data sheet
006183	B6.Cg-Col4a5^tm1Yseg/J	Cryopreserved - Ready for recovery
	Heterozygous females and hemizygous males for the targeted mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. Immunofluorescence analysis of kidney tissue from mutant male mice does not detect gene product (protein), but in kidney from mutant female mice a mosaic pattern of gene product (protein) is detected (due to X-inactivation). RNase protection assay analysis of kidney tissue from mutant male mice detects a significantly lower level than wildtype. Hemizygous male and heterozygous female mice develop progressive kidney disease. By 7 weeks of age, 97% of mutant male mice and 78% of heterozygous female mice exhibit proteinuria. Histological analysis of kidneys from mutant male mice at 4 weeks of age reveals thickened capillary walls and mesangial hypercellularity. The pathology progresses to interstitial inflammation, glomerular abnormalities, and focal sclerosis. Electron microscopic examination of glomerular basement memb ..... For more information please see the full phenotype on the strain data sheet
000699	B6.Cg-Dock7^m Lepr^db/+ +/J	Cryopreserved - Ready for recovery
	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 4 to 8 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 diabe ..... For more information please see the full phenotype on the strain data sheet
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.
008780	B6.Cg-Hcn4^tm1Rsei/J	Cryopreserved - Ready for recovery
	These mice carry the HCN4^R699Q mutation which results in an amino acid substitution in the cyclic nucleotide (cAMP)-binding domain of the protein. Mice that are heterozygous for the targeted mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. Homozygous mice have an embryonic lethal phenotype, developing normally until embryonic day 11 but then failing to develop past embryonic day 12. Western blot analysis of embryonic hearts indicates that the mutation does not alter the level of gene product (protein) expression. Isolated embryonic hearts from homozygous and heterozygous animals younger than embryonic day 11.5 have decreased heart rates when compared to wild-type. Homozygous embryonic hearts do not respond with increased heart rate to adrenergic stimulation. Cardiomyocytes isolated from homozygous embryos beat more slowly, and have slower current activation and faster current deactivation when compared to contro ..... For more information please see the full phenotype on the strain data sheet
000103	B6.Cg-Hps6^ru/J	Cryopreserved - Ready for recovery

005912	B6.Cg-Il10^tm1Cgn (D3Mit49-D3Mit348)/Lt	Cryopreserved - Ready for recovery
	Homozygous mice are IL10-deficient and develop spontaneous colitic lesions in the cecum and large intestine as early as 6-8 weeks of age. The severity and age of onset of colitis varies with the donor type and location of the cytokine deficiency colitis susceptibility 1 (Cdcs1) interval. Generally, the C3H/HeJBir region encompassed by D3Mit348 through D3Mit254 (127.7-132.5 megabases) confers increased colitis susceptibility on the B6.129P2-Il10^tm1Cgn background (Beckwith J, et al., 2005). Mice on the B6.129P2-Il10^tm1Cgn background are prone to rectal prolapse particularly when carrying susceptibility alleles from Chromosome 3. Granulocyte populations in peripheral blood increase upon lesion development and provide a robust non-lethal assessment of colitis severity.
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.
000194	B6.Cg-Lx Kit^W-v/J	Cryopreserved - Ready for recovery
	Kit mice possess pleiotropic defects in pigment-forming cells, germ cells, RBC's and mast cells. In addition, they exhibit impaired resistance to parasitic infection and an intrinsic progenitor cell defect. Kit^W-v homozygotes resemble Kit^W homozygotes in color, anemia, and germ cells, but many of them survive to maturity. The lack of germ cells in mutant mice leads to the development of some ovarian tumors (mesotheliomas and granulosa cell), associated with an overproduction of pituitary gonadotropic hormone. Heterozygous lx mice show preaxial polydactyly (including hyperphalangy of the first digit) of the hindfeet. Homozygotes show preaxial polydactyly or oligodactyly of the hindfeet, reduction of the tibia, loss of part of the femur and pubis, decrease in number of presacral vertebrae, and anomalies of the urogenital system including horseshoe kidney, hydronephrosis, and hydroureter. Although homozygous Kit^W-v/> ..... For more information please see the full phenotype on the strain data sheet
000566	B6.Cg-Os +/+ Cacna1a^tg-la/J	Cryopreserved - Ready for recovery
	Mice homozygous for the leaner spontaneous mutation (Cacna1a^tg-la) begin to show ataxia, stiffness, and retarded motor activity by 8 to 10 days of age. Many homozygous mutant mice die by weaning age, but some survive, and females may even breed. Homozygous mutant adults are characterized by instability of the trunk and hypertonia of the trunk and limb muscles. Seizures have not been observed. The cerebellum is reduced in size, particularly in the anterior region. There is loss of granule cells beginning at 10 days of age and loss of Purkinje and Golgi cells beginning after 1 month. Leaner/tottering heterozygotes (Cacna1a^tg-la/Cacna1a^tg) show ataxia, stiffness, and retarded motor activity at 15 to 17 days of age. Within a few days, they develop a wobbly gait and intermittent focal seizures which continue throughout life. The cerebellum shows shrinkage and degenerative changes of the Purkinje cells.
000024	B6.Cg-Pldn^pa/J	Cryopreserved - Ready for recovery
	Mice homozygous for the pallid spontaneous mutation pa and nonagouti (a) are pink-eyed and have a light, yellow-brown coat. The coat is a little lighter than that of pink-eyed dilution homozygotes (p/p). Viability of homozygote mutant mice is slightly reduced. Some homoygotes have slightly abnormal behavior, with abnormal postural responses and head tilting due to the absence of otoliths in the sacculus and utriculus in many but not all mutant mice. The effect of pallid on behavior and otolith morphology appears to be a result of manganese deficiency. Homozygotes display defective mucopolysaccharide synthesis in the otolith matrix and a slower rate of transport of manganese, L-dopa, and L-tryptophane in the brain. Homozygotes have elevated basal and testosterone-induced levels of the kidney lysosomal enzymes b-glucuronidase, b-galactosidase, and a-mannosidase, accompanied by lowered enzyme excretion in the urine. Pallid mice have a deficiency in serum a1-antitrypsi ..... For more information please see the full phenotype on the strain data sheet
004201	B6.Cg-Selplg^tm1Fur/J	Cryopreserved - Ready for recovery
	Mice that are homozygous for the targeted mutation are viable, normal in size and do not display any gross physical or behavioral abnormalities. No targeted allele product (mRNA or protein) is detected by Northern blot or immunoassay. Mutant mice exhibit mild neutrophilia. Impaired early neutrophil migration in thioglycolate-induced peritonitis is followed by a delayed recovery to nearly normal levels. Although early trauma-induced leukocyte adhesion and migration is greatly reduced and in vivo leukocyte rolling (leukocyte-endothelial cell interaction) in postcapillary venules is severely decreased, cytokine-induced/E selectin-mediated leukocyte rolling is only slightly reduced in the mutant mice. This mutant mouse strain represents a model that may be useful in studies of leukocyte adhesion and migration in the inflammatory response.
006922	B6.Cg-Sfpi1^tm2Dgt/J	Cryopreserved - Ready for recovery
	Mice that are homozygous for this "PU.1F" conditional allele are viable and fertile. When PU.1^F mice are bred to mice expressing Cre recombinase, exons 4-5 of the targeted gene are deleted in the cre-expressing tissues in the offspring. These mice may be useful in studying T cell lymphoma, AML and other cancers, as well as transcription factors, hematopoiesis, and the development of multiple cell lineages. For example, when PU.1^F mice are crossed with mice expressing the interferon- or dsRNA-inducible Mx1-cre transgenic mice (see Stock No. 003556), this mutant mouse strain may be useful in studies of hematopoietic stem cells. NOTE: Despite these mice being backcrossed onto the C57BL/6 genetic background, occasional albino pups may be observed. The donating investigator confirms this observation and suggests the targeted mutation may have an as of yet uncharacterized effect upon coat color ..... For more information please see the full phenotype on the strain data sheet
003780	B6.Cg-Sgsh^mps3a/PstJ	Cryopreserved - Ready for recovery
	Mice homozygous for the Sgsh^mps3a mutation have only 3-4% of the wild type level of sulfamidase activity. This results in extensive lysosomal accumulation of heparin sulfate most prominently in neuronal tissue and liver and, to a lesser degree, in the spleen. GM2 ganglioside accumulation is also found. The outward phenotype of scruffy coat, hunched posture, and reduced activity is usually seen by 6 to 7 months of age. Corneal opacity is also found at approximately 7 months of age. Death occurs between 7 and 10 months of age, on average, and autopsy reveals brain lesions, hepatosplenomegaly and a distended bladder containing turbid urine. The homozygotes have thicker skullcaps, vertebral deformation, thickening of the urinary bladder wall, and bladder blockage that leads to severe bladder distention as they age. Sgsh^mps3a /Sgsh^mps3a mice provide a model for the human disease mucopolysaccharidosis 3A (MPSIIIA), also known as S ..... For more information please see the full phenotype on the strain data sheet
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
006200	B6.Cg-Tnks2^tm1.1Yjc/J	Cryopreserved - Ready for recovery
	Mice that are homozygous for the targeted mutation are viable and fertile. No gene product (mRNA) is detected by RT-PCR analysis of activated spleen lymphocytes. While neither telomere shortening nor chromosomal abnormalities (even across multiple generations) are observed, homozygous mice have significantly decreased body weight. These mutant mice may be useful in studies of both telomerase function and telomerase-independent pathways which affect development and metabolism.
009352	B6.Cg-Tg(CDX2-cre*)189Erf/J	Cryopreserved - Ready for recovery
	Mice hemizygous for the CDX2P9.5-G22Cre transgene are viable and fertile. The 9.5 kb human caudal type homeo box 2 (CDX2) promoter/enhancer sequence is prevented from driving nuclear-localized Cre recombinase expression as a 22 guanine nucleotide repeat tract between initiating methionine (ATG) codon and the remainder of the coding region alters the cre reading frame. Presumably, following a somatic mutation that results in some frameshift mutation(s) in the guanine nucleotide tract in a subset of somatic cells, resultant expression of a functional Cre recombinase is observed predominantly in colonic epithelium during late gestation and in adult tissues. Specifically, mosaic Cre recombinase expression would be observed in epithelium from the distal ileum and cecum, and mainly the proximal and distal colon from the crypt base to the luminal surface. Cre recombinase expression may also be observed in a few caudal-derived cells during early development. When these transgenic ..... For more information please see the full phenotype on the strain data sheet
007237	B6.Cg-Tg(CMV-Serpine1)1Dgi/J	Cryopreserved - Ready for recovery
	These transgenic mice exhibit increased susceptibility to pulmonary fibrosis following intratracheal administration of Bleomycin.
003563	B6.Cg-Tg(Cebpb-tTA)5Bjd/J	Cryopreserved - Ready for recovery
	Hemizygous mice are viable and fertile. These transgenic mice carry the gene encoding the tetracycline-controlled transactivator protein (tTA) driven by the liver-enriched activator protein (P_LAP, C/EBP, Cebpb) promoter, and express tTA, specifically, in liver. When these transgenic mice are mated to a strain carrying the luciferase gene coupled to a tetracycline-responsive promoter element (TRE; tetO), the luciferase reporter is expressed in a liver-specific fashion; treatment with doxycycline (dox) prevented transcription of the luciferase reporter in the liver. C57BL/6J-Tg(tTALap)5Uh mice may be mated to transgenic strains containing a gene of interest coupled to a TRE to study the effects of liver specific expression of the target gene in a dox-inducible fashion. Dox concentration may be administered in the animals' water supply. It should be noted that the chromosomal integration site of a TRE-couple transgene may affect the tissue-specific expression of the t ..... For more information please see the full phenotype on the strain data sheet
010914	B6.Cg-Tg(Emu-TXLNA)1Amjr/J	Cryopreserved - Ready for recovery
	Mice harboring the pEμSR-IL-14α transgene are viable and fertile, with expression of hemagglutinin-tagged human IL-14α (TXLNA or taxilin alpha) directed predominantly to the B lymphocyte compartment by the Eμ immunoglobulin heavy chain enhancer/SV40 promoter regions (from the pEμSR vector). Human IL-14α expression levels from the transgene are similar to mouse IL-14α expression levels observed in activated T cells/B cells. Transgene expression results in a phenotype with characteristics of systemic lupus erythematosus (SLE) and Sjogren's syndrome. Specifically, transgenic mice exhibit hypergammaglobulinemia (enhanced responses to T-dependent and T-independent antigens), autoantibodies, sialadenitis (infiltration of the parotid glands with lymphocytes), and mild immune-complex mediated nephritis with glomerular IgM deposition. In addition, almost all aged IL-14α-transgenic mice develop large B cell lymphoma (CD5+ B cell lymphoma) similar to ..... For more information please see the full phenotype on the strain data sheet
012389	B6.Cg-Tg(Myh6-Ppara)404-3Dpk/J	Cryopreserved - Ready for recovery
	The mouse Myh6 (myosin, heavy polypeptide 6, cardiac muscle, alpha) cardiac muscle-specific promoter drives expression of FLAG-tagged Ppara (peroxisome proliferator activated receptor alpha) in this transgenic strain. Expression of Ppara is increased approximately 135-fold as compared to wildtype in this line (404-3). Hearts of hemizygotes depend on fatty acid for the generation of energy to a significantly greater extent than do hearts of non-transgenic mice and have a substrate utilization profile similar to that of the diabetic heart. Cardiac dysfunction is exhibited by 2 months of age with no imposed stress. This strain may be useful in studies of metabolic alterations associated with diabetic cardiomyopathy.
012382	B6.Cg-Tg(Myh6-Ppara)404-4Dpk/J	Cryopreserved - Ready for recovery
	The mouse Myh6 (myosin, heavy polypeptide 6, cardiac muscle, alpha) cardiac muscle-specific promoter drives expression of FLAG-tagged Ppara (peroxisome proliferator activated receptor alpha) in this transgenic strain. Expression of Ppara is increased approximately 15-fold as compared to wildtype in this line (404-4). Hearts of hemizygotes depend on fatty acid for the generation of energy to a significantly greater extent than do hearts of non-transgenic mice and have a substrate utilization profile similar to that of the diabetic heart. Cardiac dysfunction is exhibited by 4-5 months of age with no imposed stress, or after being placed on a high fat diet. This strain may be useful in studies of metabolic alterations associated with diabetic cardiomyopathy and other forms of lipotoxic cardiomyopathy.
007176	B6.Cg-Tg(Pax8-rtTA2S*M2)1Koes/J	Cryopreserved - Ready for recovery
	Transgenic Pax8-rtTA mice are viable and fertile. These mice express an optimized reverse tetracycline-controlled transactivator (rtTA2^S-M2) protein under the control of the murine Pax8 promoter, which directs expression to proximal and distal tubules and the collecting duct system of both embryonic and adult kidney. The rtTA2^S-M2 variant of rtTA contains five amino acid changes in the TetR moiety (S12G, E19G, A56P, D148E, and H179R) and a synthetic optimized transactivating domain, resulting in reduced basal activity and enhanced doxycycline sensitivity compared to wild-type rtTA. When mated to a second strain carrying a gene of interest under the regulatory control of a tetracycline-responsive promoter element (TRE or tetO), expression of the target gene in kidney cells is induced with administration of the tetracycline analog, doxycycline (dox). These Pax8-rtTA mice provide a Tet-On tool that allows the inducible expression of genes in renal tubular epithelial ..... For more information please see the full phenotype on the strain data sheet
006438	B6.Cg-Tg(Scgb1a1-Scnn1b)6608Bouc/J	Cryopreserved - Ready for recovery
	These Scnn1b-transgenic mice overexpress the mouse nonvoltage-gated 1 beta, Scnn1b, under the direction of the rat secretoglobin, family 1A, member 1 (uteroglobin; Clara cell secretory protein) promoter. While the donating investigator reports that most hemizygous transgenic mice (80-90%) survive past postnatal day 14, hemizygous mice at The Jackson Laboratory exhibit an approximately 40% survival rate to weaning age. Hemizygous mice that do not survive die from airway obstruction asphyxia. Mice exhibit chronic inflammation with neutrophil infiltration, chronic mucus hypersecretion and emphysema. These Scnn1b-transgenic mice may be useful in studies of cystic fibrosis, and are available on different genetic backgrounds such as B6;C3H mixed (Stock No. 005315), B6C3Fe hybrid (Stock No. 006176), and C57BL6-congenic (Stock No. 006438). In an attempt to offer alle ..... For more information please see the full phenotype on the strain data sheet
006232	B6.Cg-Tg(Scgb1a1-rtTA)1Jaw/J	Cryopreserved - Ready for recovery
	Mice hemizygous for the CCSP-rtTA transgene are viable, fertile, normal in size, and do not display any gross physical or behavioral abnormalities. These transgenic mice express the reverse tetracycline-controlled transactivator (rtTA) protein under the control of the rat Scgb1a1, secretoglobin, family 1A, member 1 (uteroglobin), gene promoter. rtTA activity detected in bronchial and type II epithelial cells of lung tissue from adult transgenic mice and in embryos from pregnant females treated with the tetracycline analog doxycycline (dox). In the latter, rtTA-induced expression of a luciferase reporter under the regulation of a tetracycline-responsive promoter (TRE; tetO) has been detected as early as embryonic day 12.5. When hemizygotes are mated to a second transgenic strain carrying a gene of interest under the regulatory control of a TRE, expression of the target gene in the bitransgenic offspring can be regulated by dox; in the presence of dox, transcription of the target ..... For more information please see the full phenotype on the strain data sheet
000541	B6.D2-Hps5^ru2-hz/J	Cryopreserved - Ready for recovery

001271	B6.RBF(C3Fe)-Nek1^kat/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
003523	B6.ROP/Le-Os/J	Cryopreserved - Ready for recovery

002727	B6;129-Ahr^tm1Bra/J	Cryopreserved - Ready for recovery
	Mice homozygous for the Ahr^tm1Bra targeted mutation are viable and fertile. Homozygotes do not respond to aryl-hydrocarbon receptor agonists. They show reduced liver weight (25% decrease) delayed extramedullary hematopoiesis, and transient hepatic microvesicular steatosis.
009077	B6;129-C3^tm1Crr Man2a1^tm1Jxm/J	Cryopreserved - Ready for recovery

010842	B6;129-Crhr2^tm1Jsp/J	Cryopreserved - Ready for recovery
	Male mice lacking expression of corticotropin releasing hormone receptor 2 (Crhr2) exhibit enhanced anxious behavior in several tests of anxiety, including the elevated plus-maze test and the dark-light emergence task. Female targeted mutant mice do not show this increase of anxiety-like behavior. Mice show impaired responses in specific brain regions involved in emotional and autonomic function as monitored by a reduction of Creb phosphorylation in male, but not female, homozygous targeted mice. Male and female deficient animals display a larger edema response in response to thermal injury than do their wild-type littermates.
004338	B6;129-E2f2^tm1Zubi/J	Cryopreserved - Ready for recovery
	Mice that are homozygous for the targeted mutation are viable and normal in size. No gene product, mRNA or protein, was detected. At age 15 months mutant mice have a 27% survival rate due to diffuse autoimmune disease that resembles systemic lupus erythematosus (SLE). The phenotype includes splenomegaly by 8-12 weeks of age, glomerulonephritis, accumulated inflammatory infiltrates in the lung, liver, and skin abnormalities such as hair loss, skin wounds, erythema. Anti-dsDNA antibodies are detected in the serum. There are an increased number of mature CD8+ thymocytes and an abnormal accumulation of CD8+ Cd44high Cd69- T effector/memory cells that are autoreactive in peripheral lymphoid organs. E2F2 deficient mice appear to have normal negative selection of thymocytes but demonstrate defects in peripheral tolerance of T lymphoctes (especially Cd8+ T cells) leading to progressive autoimmune disease. This mutant mouse strain may be useful in studies of autoimmunity and may serve as model ..... For more information please see the full phenotype on the strain data sheet
004161	B6;129-Fgf7^tm1Efu/J	Cryopreserved - Ready for recovery
	Mice homozygous for this targeted allele are viable, fertile and normal in size. No Fgf7 transcript is detected. By 2 months of age, the hair coat takes on a matted/greasy appearance that becomes more prominent with age. Homozygote kidneys are markedly smaller and posses structural anomalies. Morphometric analyses indicate a reduction (~30% of wildtype) in the total number of nephrons present. Kidney development appears to be effected as early as embryonic day 16.5. This mutant mouse strain represents a model that may be useful in studies related to kidney disease.
012823	B6;129-Fzd4^tm1Nat/J	Cryopreserved - Ready for recovery
	Homozygous Fzd4 (frizzled homolog 4 (Drosophila)) mice have a congenital retinal hypovascularization, a progressive inner ear vascular atrophy, a defect in the blood brain barrier in the cerebellum, and a progressive cerebellar degeneration associated with severe ataxia. Mice also show an absence of a skeletal muscle sheath around the lower esophagus associated with progressive esophageal distension.
002201	B6;129-Gja1^tm1Kdr/J	Cryopreserved - Ready for recovery
	Mice homozygous for the Gja1^tm1Kdr targeted mutation die at birth. The cause of death is a failure in pulmonary gas exchange caused by a swelling and blockage of the right ventricular outflow tract from the heart. The cardiac abnormality involves a delay in the normal looping of the ascending limb of the heart tube, which includes the right ventricle and the outflow tract. This predisposes homozygous mutant mice to malformations of the subpulmonary outflow tract and tricuspid valve. The mutation also predisposes mice to lens cataracts and causes a severe reduction of germ cell numbers in homozygous mutant mice of both sexes. Both neonatal and adult mice heterozygous for the Gja1^tm1Kdr targeted mutation have slower ventricular epicardial conduction of paced beats in the heart.
012669	B6;129-Lrp5^tm1.1Mawa/J	Cryopreserved - Ready for recovery
	These Lrp5 (low density lipoprotein receptor-related protein 5) targeted mutation mice carry a G170V amino acid mutation that is equivalent to the G171V missense mutation reported in human patients with high bone mass. Expression of the mutant protein is detectable in whole femur mRNA at levels comparable to those of wildtype mice. Homozygotes show an abnormally high bone density. Heterozygotes also show significantly increased bone mass and strength compared to wildtype mice. This strain may be useful in studies of bone development and homeostasis.
012670	B6;129-Lrp5^tm1Mawa/J	Cryopreserved - Ready for recovery
	These Lrp5 (low density lipoprotein receptor-related protein 5) targeted mutation mice carry a G170V amino acid mutation that is equivalent to the G171V missense mutation reported in human patients with high bone mass. A floxed neomycin cassette was placed in intron 2 in reverse transcriptional orientation to interfere with transcription of the targeted gene and create a hypomorphic allele. Expression of the mutant protein is detectable in whole femur mRNA at substantially reduced levels as compared to those of wildtype mice. Heterozygotes have bone mass comparable to that of wildtype mice. Cre-recombinase-mediated deletion of the floxed neomycin cassette restores Lrp5 expression to wildtype levels and produces the high bone mass phenotype seen in Stock No. 012669. This strain may be useful in studies of bone development and homeostasis, particularly when conditional activation of the allele in a cell type-specific m ..... For more information please see the full phenotype on the strain data sheet
012671	B6;129-Lrp5^tm2.1Mawa/J	Cryopreserved - Ready for recovery
	These Lrp5 (low density lipoprotein receptor-related protein 5) targeted mutation mice carry a A213V amino acid mutation that is equivalent to the A214V missense mutation reported in human patients with high bone mass. Expression of the mutant protein is detectable in whole femur mRNA at levels comparable to those of wildtype mice. Homozygotes show an abnormally high bone density. Heterozygotes also show significantly increased bone mass and strength compared to wildtype mice. This strain may be useful in studies of bone development and homeostasis.
012672	B6;129-Lrp5^tm2Mawa/J	Cryopreserved - Ready for recovery
	These Lrp5 (low density lipoprotein receptor-related protein 5) targeted mutation mice carry a A213V amino acid mutation that is equivalent to the A214V missense mutation reported in human patients with high bone mass. A floxed neomycin cassette was placed in intron 2 in reverse transcriptional orientation to interfere with transcription of the targeted gene and create a hypomorphic allele. Expression of the mutant protein is detectable in whole femur mRNA at reduced levels as compared to those of wildtype mice. Heterozygotes have bone mass comparable to that of wildtype mice. Cre-recombinase-mediated deletion of the floxed neomycin cassette restores Lrp5 expression to wildtype levels and produces the high bone mass phenotype seen in Stock No. 012671. This strain may be useful in studies of bone development and homeostasis, particularly when conditional activation of the allele in a cell type-specific or temporal-spe ..... For more information please see the full phenotype on the strain data sheet
003530	B6;129-Ltb^tm1Flv/J	Cryopreserved - Ready for recovery
	The Ltb (lymphotoxin-beta) -deficient mice lack Peyer's patches, peripheral lymph nodes, splenic germinal centers and follicular dendritic cells. Note that this strain does have cervical and mesenteric lymph nodes, unlike Lta deficient mice. Mesenteric lymph nodes of Ltb deficient mice contain germinal center-like regions, but these areas appear to lack follicular dendritic cells. Homozygotes are viable and fertile.
006011	B6;129-Ly9^tm1Mckn/J	Cryopreserved - Ready for recovery
	Mice homozygous for the targeted mutation are viable, fertile, and do not display any gross anatomical or behavioral abnormalities. FACS analysis of splenocytes confirms homozygous mice do not express the endogenous protein. When stimulated with anti -CD3, splenocytes cultured from homozygous mice show significant early T cell activation defects (proliferation and IL-2 production). When stimulated with anti-TCR and anti-CD28, CD4⁺ T splenocytes cultured from homozygous mice exhibit mild defects in Th2 cytokine production, but respond normally to cytokine stimulation. These mutant mice may be useful in studies of innate and adaptive immunity, lymphocyte signaling/costimulation, T cell activation, Th1/Th2 cytokine function, and CD2/SLAM family signal transduction.
006099	B6;129-Sfpi1^tm1.2Dgt/J	Cryopreserved - Ready for recovery
	Mice that are homozygous for the targeted mutation are viable, normal in size, and do not display any gross physical or behavioral abnormalities. Endogenous protein expression is unaffected by the loxP sequences flanking an upstream regulatory region (URE). When bred to mice with a cre recombinase gene under the control of a promoter of interest, the URE of the targeted gene is deleted in the tissue of interest. Deletion of this "floxed" URE may be useful in studying T cell lymphoma, AML and other cancers, as well as transcription factors, hematopoiesis, and development of multiple cell lineages.
012862	B6;129-Slc9a3r1^tm1Ssl/J	Cryopreserved - Ready for recovery
	In this strain exon 1 of the endogenous mouse solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 1 (Slc9a3r1, or Nherf-1) gene is disrupted by a neomycin (neo) resistance cassette, abolishing gene function. No homozygous females are obtained in the first 3 generations of backcrosses. Nherf-1^-/- females obtained between F4 and F6 generations have 30-50% reduction in bodyweight over wildtype littermates, show impaired mobility, and some develop hydrocephaly. Most homozygous females die 30-35 days after birth due to reduced bone mineral density. Associated bone fractures are observed. Male homozygotes display an increase in urinary excretion of uric acid, a decrease in serum phosphate concentration, an increase in serum alkaline phosphatase, a 3-fold increase in urinary phosphate excretion, a slight increase in urinary magnesium excretion, but maintain normal overall renal function. Homozygotes also exhibit abnormalities in the targeting and sign ..... For more information please see the full phenotype on the strain data sheet
007613	B6;129-Smad1^tm2Sor/J	Cryopreserved - Ready for recovery
	Homozygotes for the Smad1^tm2Sor (also called Smad1L) allele are viable and fertile, normal in size and do not display any gross physical or behavioral abnormalities. These mice carry a mutation in exon 3, which effects MAPK-mediated phosphorylation of the protein. Western blot analysis of MEFs from homozygotes showed that similar protein levels compared to wildtype. Homozygous embryos have fewer primordial germ cells than wildtype controls. Homozygous mice display abnormal gastric mucosa cell population ratios with fewer zymogenic cells and more parietal cells. The cytoskeleton of MEFs from homozygotes exhibit a loss of adhesion zippers, decreased stress fibers, and an accumulation of actin in the cortical regions with an increase in beta-catenin immunostaining localized to the cell membranes. This mutant mouse strain may be useful in studies of stomach development, gastic mucosal homeostasis and BMP and MAPK signaling pathways during development and in the adult.
006495	B6;129-Trp53bp1^tm1Jc/J	Cryopreserved - Ready for recovery
	Homozygous "53BP1"-deficient mice are viable and fertile, but exhibit retarded growth and generate reduced litter sizes. Protein from the targeted gene is not detected in the testes (by immunoblot) or in mouse embryonic fibroblasts (MEFs) (by immunofluorescence). Homozygotes are immunocompromised, hypersensitive to whole-body irradiation, and develop thymic lymphomas with higher frequency (8%) compared to wildtype by 4-7 months of age. MEFs from homozygous mutant mice have a defective DNA damage response with impaired Chk2 activation. These mutant mice may be useful in studies of the immune system, cancer, tumor suppression, and DNA damage response pathways.
009599	B6;129P2-Adam19^{Gt(Betageo)1Bbl}/J	Cryopreserved - Ready for recovery
	Heterozygous mice are viable and fertile, while ~80% of homozygous mice die in the first few days after birth with severe heart valve defects. This β-geo secretory trap mutation abolishes endogenous gene function and expresses an ADAM19/LacZ/neo fusion protein. The mutant fusion protein has improper protein folding that keeps the ADAM19 regions of the protein retained in the endoplasmic reticulum by chaperones where they are subsequently degraded. As such, lacZ expression is directed to the same tissues as the wildtype gene. No wildtype ADAM19 protein product is observed from the targeted allele. These Adam19-mutant mice may be useful as a lacZ reporter for Adam19 expression or as a knockout model for studying developmental biology (cardiac morphogenesis).
002070	B6;129P2-B2m^tm1Unc/J	Cryopreserved - Ready for recovery
	Mice homozygous for the B2m^tm1Unc targeted mutation have little if any MHC class I protein expression on the cell surface. There are few CD8⁺ cytotoxic T-cells and under some circumstances a compensatory increase in CD4⁺ cytotoxic T-cells. Immune responses involving CD8⁺T-cells are severely deficient providing a model to assess the role of CD8⁺ cells and class I MHC in various experimental systems. Hemachromatosis has been noted in certain genetic backgrounds (Rothenberg BE, Voland JR, Proc Natl Acad Sci USA 93:1529-34, 1996). 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 ..... For more information please see the full phenotype on the strain data sheet
002461	B6;129P2-Cbs^tm1Unc/J	Cryopreserved - Ready for recovery
	Mice deficient in cystathionine-beta synthase suffer from severe growth retardation and a majority of them are dead by 5 weeks of age. Histological examination showed that the hepatocytes of homozygotes were enlarged, multinucleated, and filled with microvesicular lipid droplets. Plasma homocysteine levels of the homozygotes were approximately 40 times normal. Homozygotes may be used as a model for severe homocysteinemia. Heterozygous mutants have an approximately 50% reduction in cystathionine beta-synthase mRNA and enzyme activity in the liver and have twice normal plasma homocysteine levels. Thus, the heterozygous mutants are promising for studying the in vivo role of elevated levels of homocysteine in the etiology of cardiovascular diseases.
007226	B6;129P2-Has2^tm1Jam/J	Cryopreserved - Ready for recovery
	While heterozygous mice are viable and fertile, mice homozygous for this targeted allele die between embryonic day (E)9.5 and E10.5. Embryonic mRNA expression from the targeted gene shows only truncated transcripts of the expected length, with no full-length mRNA expression. Homozygous embryos exhibit severe cardiac and vascular abnormalities, lack hyaluronan (HA), and have yolk sac and somite deformities. Heart deformities can be rescued in explants from homozygous mice following exogenous HA or activated H-Ras treatment. These Has2 mutant mice may be useful in studying embryogenesis and development, specifically cardiac and vascular morphogenesis, as well as cell transformation.
004234	B6;129S-Fgfr3^tm1Dor/J	Cryopreserved - Ready for recovery
	Approximately 50% of mice that are homozygous for the Fgfr3^tm1Dor targeted mutation die between birth and 21 days of age. Surviving pups may live as long as 8 months. RNAase protection analysis of adult homozygous brain tissue indicates that an abnormal transcript may be generated, but that no functional protein results. Severe skeletal defects (kyphosis, scoliosis, crooked tails, curvature and overgrowth of long bones) are evident. Inner ear defects (lack of pillar cell differentiation and tunnel of Corti formation) resulting in profound deafness are also observed.
006470	B6;129S-Hopx^tm1Eno/J	Cryopreserved - Ready for recovery
	Homozygous mice are viable and fertile on this mixed genetic background. Absence of the targeted protein is confirmed in heart and brain tissues from homozygotes. The lacZ expression pattern is similar to that of the endogenous gene. Homozygous heart tissues show altered serum response factor (SRF)-associated gene expression. Mice homozygous for this null allele segregate into two phenotypic classes characterized by an excess or deficiency of cardiac myocytes. These mutant mice may be useful in studying cardiac growth and development.
002476	B6;129S-Ptgs2^tm1Jed/J	Cryopreserved - Ready for recovery
	Mice homozygous for the Ptgs2^tm1Jed targeted mutation exhibit significant preweaning loss of homozygotes (original publication reports 30-40%). Homozygous mutant mice show polydipsia and polyuria due to a defect in renal development. Cardiac fibrosis is evident in approximately 50% of the mice. PTGS2 deficient mice do not show altered inflammatory responses to in several tests of paw and ear edema; however, cytoxicity of hepatic cells induced by endotoxin was strikingly mitigated in these homozygotes. Female homozygotes are infertile with defects in ovulation, fertilization, implantation, and decidualization.
003728	B6;129S-Sparc^tm1Hwe/J	Cryopreserved - Ready for recovery
	Mice that are homozygous null for Sparc are viable and fertile. They display decreased physical activity when handled but otherwise appear normal. Sparc transcripts and protein products are not detected in these animals. The development of cataracts and osteopenia are the predominant phenotypes. Lenticular opacity starts to develop at 1 to 2 months after birth, progressing to mature cataracts by 5-8 months of age. Intracellular vacuoles are apparent at 1-2 months, leading to a disruption of fiber cell packing. In later stages, the lens capsule ruptures and displacement of lens material into the anterior chamber is evident. At 17 weeks of age, null mice exhibit 50% less trabecular bone than that found in wild type controls. The loss is 70% at 36 weeks. Decreases in both osteoclast and osteoblast numbers are observed, the cumulative effect of which is a negative bone-balance leading to profound osteopenia.
007032	B6;129S-Wnt4^tm1.1Bhr/BhrEiJ	Cryopreserved - Ready for recovery
	This strain contains loxP sites flanking exon 2 of Wnt4 resulting in a Cre-dependent conditional null allele. Homozygotes are normal. Studies by Kobayashi et al., determined that when this conditional allele is exposed to Cre expression by Amhr2^tm3(cre)Bhr Mullerian duct regression proceeds normally.
003666	B6;129S1-Map2k4^tm1Liz/J	Cryopreserved - Ready for recovery
	Mice that are homozygous null for the Map2k4(SEK1, JNKK, or MKK4) gene exhibit liver abnormalities and suffer lethality before embryonic day 14.5. Histological examination reveals a reduced number of hepatocytes and enlarged, hemorrhaging sinuses. The donating investigator speculates that embryo death results from anemia brought on by massive bleeding. SEK1 is an enzyme in the stress-activated MAP kinase pathway.
004858	B6;129S1-Tshr^tm1Rmar/J	Cryopreserved - Ready for recovery
	Mice that are homozygous for the targeted mutation exhibit delayed eye opening, are runted by day 21, and will die within 1 week if weaned at day 21. Homozygotes will survive by extending weaning to 28 days but will not reproduce. Homozygotes are viable and fertile when weaned at day 21 and subsequently placed on a hormone replacement therapy diet consisting of a 100ppm desiccated thyroid powder supplement. No gene product (mRNA or protein) is detected by RT-PCR or Western blot analysis of thyroid membranes. Enhanced Green Fluorescent Protein (EGFP) gene product is detected by RT-PCR and Western blot analysis of thyroid tissue. Hypothyroidism is exhibited by mutant mice that have a longer weaning period and a non-supplemented diet, as indicated by low T4 and T3 serum levels, and high thyrotropin (TSH) serum levels. Treatment with exogenous TSH does not result in a thyroid hormone release response. Mutant mice produce uniodinated thyroglobulin and do not accumulate radioactive iodide in ..... For more information please see the full phenotype on the strain data sheet
002265	B6;129S2-Bcl2^tm1Sjk/J	Cryopreserved - Ready for recovery
	Mice homozygous for the Bcl2^tm1Sjk targeted mutation appear normal at birth; however, growth retardation is evident by one week of age with considerable heterogeneity in weight compared to normal wildtype siblings (30% to 90%). There is some pre-weaning loss. Homozygotes succumb to renal failure as a result of polycystic kidney disease. Hematopoiesis, including lymphocyte differentiation is initially normal but the thymus and spleen decrease in size due to increased apoptosis. The coat color of homozygotes turns grey with the second hair follicle cycle.
002494	B6;129S2-Cga^tm1Sac/J	Cryopreserved - Ready for recovery
	Mice homozygous for the Cga^tm1Sac targeted mutation are viable but both sexes are infertile. They lack TSH, LH, and FSH. Homozygous mutant mice are hypogonadal and exhibit severe hypothyroidism resulting in dwarfism. Development of the thyroid gland was arrested in late gestation. However, gonadotropin releasing hormone (GNRH) neuron migration, development of secondary sex organs, and fetal and neonatal gonadal development are normal. Mice heterozygous for the Cga^tm1Sac targeted mutation appear normal.
002917	B6;129S2-Sell^tm2Hyn/J	Cryopreserved - Ready for recovery
	Mice homozygous for the Sell^tm2Hyn mutation are viable and fertile. They are characterized by hypoplastic lymph nodes because of failure of lymphocytes to roll on high endothelial venules in the nodes.
002273	B6;129S2-Tlx1^tm1Sjk/J	Cryopreserved - Ready for recovery

007202	B6;129S4-5830428H23Rik^{Gt(ROSA)76Sor}/J	Cryopreserved - Ready for recovery
	At age E11.5 to E18.5, homozygous embryos exhibit hemorrhages and microaneurisms. Vascular defects persist into adulthood. At six weeks of age, mice are anemic (low hemoglobin concentration, red blood cell count, hematocrit). These mice also exhibit polychromasia (abnormally high number of immature blood cells); kidney defects (abnormally high blood urea nitrogen level, kidney size smaller than wild-type, swollen blood filled glomeruli, reduced number of vascular smooth muscle cells in glomeruli); abnormalities in palate bone fusion and abnormal neural crest derived and thoracic skeleton development. No gene product is detected in homozygous embryos aged ED9.5-12.5 or in adult gonad. Homozygotes occur at lower than Mendelian ratio (18%) and 8% die by age one week. Surviving homozygotes and heterozygotes are viable and fertile. These Zfp826 (BC055757)-mutant mice may be useful in studying cellular signaling in development and adult mice; specifically receptor tyrosine kinases (R ..... For more information please see the full phenotype on the strain data sheet
007204	B6;129S4-2610005L07Rik^{Gt(ROSA)73Sor}/J	Cryopreserved - Ready for recovery
	Mice homozygous for this mutant allele (called BC058969 in the primary publication) are viable and fertile, with greater than 50% embryonic lethality observed in homozygous embryos. Homozygotes occur at a lower than Mendelian ratio (9%) from heterozygote x heterozygote crosses. No gene product is detected in homozygous embryos aged ED9.5-12.5 or in adult gonad. Homozygotes exhibit defects that affect the same cell types and processes as those controlled by the platelet-derived growth factor (PDGF) pathway, including vasculature, kidney, and skeletal defects (sternum and calvarial bones). Notably, 100% incidence of calvarial bones defects is reported. Additionally, homozygotes are reported to have low β-galactosidase activity; in situ hybridization or other sensitive methods may be necessary to detect expression of the lacZ-neo reporter fusion gene. These BC058969-mutant (2610005L07Rik-mutant) mice may be useful in studying cellular signal ..... For more information please see the full phenotype on the strain data sheet
006404	B6;129S4-Apoa4^tm1Bres/J	Cryopreserved - Ready for recovery
	Mice homozygous for this targeted mutation are viable and fertile with no protein detectable in plasma, liver, or intestinal tissues. Homozygotes have decreased plasma levels of cholesterol, free fatty acids, and high density (HDL) and very low density lipoprotein (VLDL). These mice may be useful in studies of lipid metabolism, atherosclerosis, heart disease, appetite regulation, intestinal lipid absorption, or inflammatory bowel disease.
007208	B6;129S4-Csrnp1^{Gt(ROSA)80Sor}/J	Cryopreserved - Ready for recovery
	Mice homozygous for this mutant allele are viable and fertile, with some incidence of perinatal lethality before two weeks of age (the Donating Investigator reports 18% of homozygotes die by two weeks of age). Homozygotes have abnormalities in palate bone fusion. Homozygotes exhibit defects that affect the same cell types and processes as those controlled by the platelet-derived growth factor (PDGF) pathway, including vasculature, kidney, and skeletal defects. These mutant mice may be useful in studying cellular signaling in development and adult mice; specifically receptor tyrosine kinases (RTK; such as Ras, MAP kinase, PI3K and those in the platelet-derived growth factor (PDGF) family) and immediate early genes (IEG) induced shortly after RTK activation.
002426	B6;129S4-Insr^tm1Dac/J	Cryopreserved - Ready for recovery
	Mice homozygous for the Insr^tm1Dac targeted mutation die 48-72 hours after birth due to diabetic keto-acidosis which causes weight loss by dehydration and protein wasting. There are no apparent gross anatomical or morphological changes. Embryonic growth is unaffected. Heterozygotes exhibit a form of mild insulin resistance.
008751	B6;129S4-Nhlh1^tm1Irk/J	Cryopreserved - Ready for recovery
	Although mice that are homozygous for the targeted mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities, approximately 25% will die prematurely before 1 year of age. No gene product (mRNA) is detected by Northern blot analysis of embryonic mouse heads. Premature death of homozygotes may be due to cardiac arrhythmia. Homozygotes have cardiac repolarization abnormalities, stress induced irregular heartbeat and reduced total heart rate power (index of heart rate variability). Impairment of the parasympathetic nervous system may cause the observed absence of diving reflex, reduced baroreceptor sensitivity and heart rate variability. This mutant mouse strain may be useful in studies of cardiac disease and cardiovascular physiology.
002851	B6;129S4-Rela^tm1Bal/J	Cryopreserved - Ready for recovery
	Mice homozygous for the Rela^tm1Bal targeted mutation die at embryonic day 14 from hepatocyte apoptosis and failure of hematopoiesis
002896	B6;129S4-Soat1^tm1Far/J	Cryopreserved - Ready for recovery
	Mice homozygous for the Soat1^tm1 targeted mutation display tissue specific decreases in cholesterol esterification. Fibroblasts and adrenal membranes of homozygous mutant mice show diminished cholesterol esterification and markedly reduced cholesterol ester levels in adrenal glands and peritoneal macrophages. However, the livers of SOAT1-deficient mice contained substantial amounts of cholesterol esters and exhibited no reduction in cholesterol esterification activity. These findings support the presence of more than one form of esterification enzyme in mammals. A second sterol O-acyltransferase gene (Soat2), expressed in the liver and intestine, has subsequently been identified in mice and humans.
006238	B6;129S4-Thbs2^tm1Bst/J	Cryopreserved - Ready for recovery
	Mice homozygous for this targeted mutation are viable and fertile. Multiple analyses has confirmed the absence of protein in embryonic and adult tissue of homozygous mice. Homozygotes exhibit skin disorders (abnormal collagen fiber patterns, reduced tensile strength, increased fragility) and skin fibroblasts have attachment defects. Mice also exhibit an increase in total density/cortical thickness of the long bones, abnormally long bleeding times, and a significant increase in blood vessel density. Homozygous mice exhibit accelerated wound healing after biopsy and accelerated/increased tumor formation following chemically-induced skin carcinogenesis. Mutant mice may be useful in studies of collagen fibrillogenesis in skin and tendons, angiogenesis and vascular pathophysiology, wound healing, chemically-induced tumor progression, and as a potential model for Ehlers Danlos syndrome. In an attempt to offer alleles on well-characterized or multiple genetic backgrounds, alleles are fre ..... For more information please see the full phenotype on the strain data sheet
002332	B6;129S4-Wt1^tm1Jae/J	Cryopreserved - Ready for recovery
	Mice homozygous for the Wt1^tm1Jae targeted mutation die between embryonic days 13 and 15. They fail to develop a kidney or gonads. The hearts of homozygous mutant mice also fail to develop properly. Hearts are smaller than wildtype controls and possess a rounded apex. The right ventricular wall is thin and the left ventricle is reduced in size. There appears to be normal development of the aortic, pulmonary, mitral and tricuspid valves. Development of the diaphragm is also incomplete resulting in incomplete separation of the thoracic and abdominal cavities. Homozygous mutant lungs are also markedly smaller than wild type lungs. Heterozygous mice appear normal and show no tumor development (mice followed until 10 months of age).
007207	B6;129S4-Zfp640^{Gt(ROSA)81Sor}/J	Cryopreserved - Ready for recovery
	Mice homozygous for this Zfp640-mutant allele are viable and fertile, with abnormalities in palate bone fusion and increased weight gain observed only in males after adolescence. Homozygotes exhibit defects that affect the same cell types and processes as those controlled by the platelet-derived growth factor (PDGF) pathway, including vasculature, kidney, and skeletal defects. Additionally, homozygotes are reported to have low β-galactosidase activity; in situ hybridization or other sensitive methods may be necessary to detect expression of the lacZ-neo reporter fusion gene. These Zfp640-mutant mice may be useful in studying cellular signaling in development and adult mice; specifically receptor tyrosine kinases (RTK; such as Ras, MAP kinase, PI3K and those in the platelet-derived growth factor (PDGF) family) and immediate early genes (IEG) induced shortly after RTK activation.
004670	B6;129S6-Abcg5/Abcg8^tm1Hobb/J	Cryopreserved - Ready for recovery
	Mice that are homozygous for this targeted allele are viable, normal in size and do not display any gross physical or behavioral abnormalities. No gene product (mRNA or protein) is detected in liver or jejunum. A 2 to 3 fold increase in fractional absorption of dietary plant sterols results in plasma sitosterol levels that are elevated 30 fold compared to wildtype levels. Biliary cholesterol levels are low, as are plasma and liver cholesterol levels. Plasma and liver cholesterol levels increase rapidly (2.4 and 18 fold, respectively) following cholesterol feeding. This mutant mouse strain represents a model that may be useful in studies related to sitosterolemia and cholesterol homeostasis.
005939	B6;129S6-Insig1^tm1Mbjg Insig2^tm1Mbjg/J	Cryopreserved - Ready for recovery
	Mice homozygous for both targeted mutations are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. This double mutant has normal expression of Insig1 and no Insig2 gene expression or protein in liver. As the Insig1 mutant locus contains a loxP, frt-flanked exon 1, Cre-mediated deletion of exon 1 (encoding amino acids 1-113) terminates gene function. The resulting double homozygous "knockout" mice die in utero some time after embryonic day 18.5. These mice may be useful in studies of cholesterol synthesis and feedback suppression, sterol regulatory element-binding protein (SREBP) processing pathways, liver metabolism and storage functions, and may have use in insulin-related topics such as diabetes and endocrine/exocrine function.
013763	B6;129S6-Nr1h3^tm1Djm/J	Cryopreserved - Ready for recovery
	Homozygous Nr1h3 (nuclear receptor subfamily 1, group H, member 3) targeted mutation mice lose their ability to respond normally to dietary cholesterol. Mice maintained on cholesterol diets fail to induce transcription of the Cyp7a1 (cytochrome P450, family 7, subfamily a, polypeptide 1) gene, a rate-limiting enzyme in bile acid synthesis, and fail to induce expression of ABCG5 (ATP-binding cassette, sub-family G (WHITE), member 5) and ABCG8 (ATP-binding cassette, sub-family G (WHITE), member 8), ATP-binding cassette transporters that are required for cholesterol secretion into bile. Large amounts of cholesterol rapidly accumulate in the liver leading to impaired hepatic function. Impaired reverse cholesterol transport from peripheral tissues is also observed. The ability to regulate lipids and carbohydrates is also lost. Defects in innate immune responses by activated macrophages have also been described. Males are not infertile, but show a significantly higher number ..... For more information please see the full phenotype on the strain data sheet
006208	B6;129S6-Pdzk1^tm1Dls/J	Cryopreserved - Ready for recovery
	Mice homozygous for this targeted mutation are viable and fertile. Liver tissue from homozygous mutant mice lacks endogenous protein expression. Homozygotes, but not heterozygotes, have significantly decreased (~85-95%) hepatic high density lipoprotein (HDL) receptor scavenger receptor B-I (SR-BI) levels. This decrease is further exacerbated following diet supplementation with the PPAR-alpha activator fenofibrate. These mice may be useful in studies of cardiovascular health and atherosclerosis, lipid metabolism, SR-B1 regulation, kidney function, as well as kidney transporter (e.g. urate transporter) regulation and liver organic anion transport.
003266	B6;129S7-Epas1^tm1Rus/J	Cryopreserved - Ready for recovery
	Mice homozygous for the Epas1^tm1Rus targeted mutation develop normally until embryonic day 11.5. Beginning at embryonic day 12.5 the ratio of homozygous embryos begins to decline and by day 16.5 there are no viable mutant embryos. Overall morphological development, including the circulatory system, is normal. Of particular interest however, is a pronounced bradycardia in homozygous mutant mice. Catecholamine levels in homozygous mutant mice are also significantly lower than wildtype controls. Administration of the catecholamine precursor DOPS to pregnant females rescues approximately 40% of mutant embryos. Embryos that survive to birth appear runted, fail to nurse, and die within 24 hours of birth. These results suggest a pivotal role of EPAS1 in catecholamine homeostasis. Heterozygous mice from this strain contain a modified lacZ gene in the targeting construct. This characteristic makes this strain useful as a marker for endothelial cells.
002381	B6;129S7-Src^tm1Sor/J	Cryopreserved - Ready for recovery
	Mice homozygous for the Src^tm1Sor targeted mutation display osteopetrosis. Homozygous mutant mice are approximately one-third the size of normal wildtype siblings. Incisors fail to erupt. In general, long bones are shorter in length and show a partial absence of bone marrow. Src has been implicated in development, but its role may be masked by other tyrosine kinases. No overt phenotype is found in brain or platelets, where it is most highly expressed. Mice heterozygous for the Src^tm1Sor mutation have no apparent abnormalities.
002293	B6;129X1-Fos^tm1Pa/J	Cryopreserved - Ready for recovery
	Mice homozygous for the Fos^tm1Pa mutation show reduced placental and fetal weights, lack teeth, and have a significant pre-weaning loss of viability. Survivors grow at a normal rate until about 11 days of age when they begin to develop a severe osteopetrosis. They may live as long as 5-7 months. Homozygous mice have delayed or absent gametogenesis and show lymphopenia. They also exhibit behavioral abnormalities, including hyperactivity and diminished response to external stimuli.
008467	B6;129X1-Wnt7b^tm2Amc/J	Cryopreserved - Ready for recovery
	Mice homozygous for the Wnt7b^c3 allele are viable and fertile, with loxP sites flanking exon 3 of the targeted gene. When bred to mice that express Cre recombinase, the resulting offspring will have this region deleted in the cre-expressing tissue(s). Unlike other Wnt7b mutant alleles, this Wnt7b^c3 conditional allele is not affected by alternative exon 1 splicing. These Wnt7b^c3 mice may be useful in generating conditional mutations for studying the role of Wnt7b (and other Wnt family members) in development and canonical Wnt signaling cascades, including lung differentiation and growth. In addition, these mice may also be useful in conjunction with other Wnt7 mutant strains including Wnt7b knockout mice (Stock No. 004693) and Wnt7a mutant mice (Stock No. 004715). When bred to a strain expressing Cre recom ..... For more information please see the full phenotype on the strain data sheet
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).
005315	B6;C3H-Tg(Scgb1a1-Scnn1b)6608Bouc/J	Cryopreserved - Ready for recovery
	These Scnn1b-transgenic mice overexpress the mouse nonvoltage-gated 1 beta, Scnn1b, under the direction of the rat secretoglobin, family 1A, member 1 (uteroglobin; Clara cell secretory protein) promoter. Approximately 40-60% of hemizygous mice die between birth and 4 weeks of age due to airway obstruction asphyxia. Histological analysis reveals that mucus accumulation, plaques and plugs in airways occur postnatally. Basal and amiloride-sensitive short-circuit currents in tracheal tissue are increased. Airway surface liquid (ASL) volume, mucus transport and clearance are reduced. Bronchial lavage and histological analysis shows mutant mice exhibit characteristics of cystic fibrosis lung disease including chronic bronchitis, airway inflammation, airway lumen infiltration of macrophage and neutrophils, and goblet cell metaplasia. These Scnn1b-transgenic mice may be useful in studies of cystic fibrosis, and are available on different genetic backgrounds such as B6;C3H mixed (Stock N ..... For more information please see the full phenotype on the strain data sheet
001378	B6;D2-In(3)55Rk Uoxⁱⁿ/J	Cryopreserved - Ready for recovery
	The Uoxⁱⁿ homozygous phenotype has incomplete penetrance. While 63% of Uoxⁱⁿ homozygotes die by 12-14 days of age, those that live to adulthood generally live a normal breeding life span. Homozygous adults display chronic polyuria, increased serum BUN and creatinine levels, and hydronephrosis with a concomitant inflammatory response that is followed by glomerular and tubular dilation. (Cook et al., 2001.)
008408	B6;D2-Tg(APOE-NPC1L1)20Lqyu/J	Cryopreserved - Ready for recovery
	These transgenic mice express the human NPC1 (Niemann-Pick disease, type C1, gene)-like 1 (NPC1L1) gene under the control of the human apolipoprotein E (APOE) promoter and hepatic control region. Transgene expression is detected in liver by Western blot analysis and is localized to the canalicular membrane. Transgenic mice exhibit decreased biliary cholesterol levels, which is associated with increased plasma cholesterol levels (mostly apoE-rich HDL particles). Biliary phospholipid and bile acid levels are not affected. Mice that are hemizygous for the transgene are viable, normal in size and do not display any gross physical or behavioral abnormalities. The Donating Investigator has not attempted to make this strain homozygous. This mutant mouse strain may be useful in studies of lipid metabolism and cholesterol transport.
002640	B6;SJL-Tg(Myh6-ADRBK1)27Wjk/J	Cryopreserved - Ready for recovery
	Mice carrying this transgene overexpress a truncated form of the bovine beta-adrenergic receptor kinase-1 containing only the last 194 amino acids of the ADRBK1 protein. The truncated protein inhibits endogenous beta-adrenergic receptor kinase-1 by blocking beta-adrenergic receptor desensitization. This myocardial inhibition increases cardiac function of homozygotes under basal conditions and leads to supersensitization to beta-agonists. This strain may serve as a model for increased left ventricular performance, a novel method of positive intropy, and enhanced beta-adrenergic signalling.
003393	B6;SJL-Tg(aP2-SREBF1c)9884Reh/J	Cryopreserved - Ready for recovery
	This transgenic mouse strain overexpresses human nuclear sterol regulatory element binding protein-1c in adipose tissue under the control of the adipocyte-specific aP2 promoter. The phenotype of transgenic mice resembles congenital generalized lipodystrophy (CGL), a rare autosomal recessive disorder in humans. CGL is characterized by an insufficiency of adipose tissue which is evident at birth and is accompanied by a severe insulin resistance leading to symptoms of type II diabetes mellitis, (hyperinsulinemia and hyperglycemia), and an enlarged fatty liver. Transgenic mice exhibit these symptoms showing defects in differentiation of white fat accompanied by an hypertrophy of brown fat that resembles immature white fat.
000126	B6By.Cg-Sd Mcoln3^Va-J Krt25^Re/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 for the two alleles (Mcoln3^Va-J/Mcoln3^Va) are similar to Mcoln3^Va-J/Mcoln3^Va-J mice but are smaller with more white spotting and abnormal behavior. They are deaf and circle vigorously. Viability and fertility of Mcoln3^Va-J/Mcoln3^Va mice are considerably reduced. This strain is also carrying two other mutations, rex (Krt25^Re) and Danforth's short tail (Sd).
000125	B6By.Cg-Sox18^Ra Pt Os/J	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
000604	B6C3 a/A-T(10;13)199H +/+ Lyst^bg-J/J or Lyst^bg-2J/J	Cryopreserved - Ready for recovery

000209	B6C3Fe a/a-Dh/J	Cryopreserved - Ready for recovery
	A spontaneous mutation on chromosome 1 of the dominant hemimelia gene, Dh, causes a defect in the embryonic splanchnic mesoderm and induces congenital absence of the spleen and widespread visceral and skeletal abnormalities. Mice homozygous for the Dh mutation die shortly after birth. Heterozygotes may exhibit tibial hemimelia, polydactyly, and extra fused toes. Rear leg(s) may be held at an odd angle with bent rear ankles. Heterozygotes have enlarged lymph nodes and elevated numbers of circulating lymphocytes, granulocytes and thrombocytes. They show reduced serum IgM and IgG2 and impaired humoral antibody response as well as decreased numbers of lymph node mast cells. The Pde6b^rd1 allele contributed to this strain by C3FeLe.B6-a causes blindness and is segregating in this strain.
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)
001573	B6C3Fe a/a-Mitf^Mi/J	Cryopreserved - Ready for recovery
	Mutations at the Mitf locus affect eye size, pigmentation, and the capacity for secondary bone resorption. Mice heterozygous for the Mitf^Mi mutation have less iris pigment than wildtype and often have white spotting on the belly, head, and tail. Homozygous mutant mice have small eyes and are devoid of pigment in the eyes, inner ear, and skin. Homozygotes are deaf at an early age. There is a decrease of mast cells in the spleen and gut. Most homozygotes die around weaning but some may live for several months. There is a deficiency of secondary bone resorption (osteopetrosis) and the incisors fail to erupt. Immunological defects include decreased macrophage chemotactic responses, impaired proliferative responses to B cell and T cell mitogens, diminished responses in vitro to T-dependent and T-independent antigens and reduced NK cell activity.
000278	B6C3Fe a/a-Papss2^bm Hps1^ep Hps6^ru/J	Cryopreserved - Ready for recovery

000290	B6C3Fe a/a-Sox10^Dom/J	Cryopreserved - Ready for recovery

000230	B6C3Fe a/a-Tcirg1^oc/J	Cryopreserved - Ready for recovery
	Mice homozygous for the osteosclerotic spontaneous mutation (oc) can be recognized at about 10 days by failure of eruption of the incisors, clubbed feet, and circling behavior. Homozygous mutant mice may also have a kinked tail. They grow normally for about the first 10 days of life, then lose weight or at least fail to gain.
000248	B6C3Fe a/a-Xpl/J	Cryopreserved - Ready for recovery

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.
006176	B6C3Fe-Tg(Scgb1a1-Scnn1b)6608Bouc/J	Cryopreserved - Ready for recovery
	These Scnn1b-transgenic mice overexpress the mouse nonvoltage-gated 1 beta, Scnn1b, under the direction of the rat secretoglobin, family 1A, member 1 (uteroglobin; Clara cell secretory protein) promoter. While the donating investigator reports that most hemizygous transgenic mice (80-90%) survive past postnatal day 14, hemizygous mice at The Jackson Laboratory exhibit an approximately 40% survival rate to weaning age. Hemizygous mice that do not survive die due to airway obstruction asphyxia. Mice exhibit chronic inflammation with neutrophil infiltration, chronic mucus hypersecretion and emphysema. These Scnn1b-transgenic mice may be useful in studies of cystic fibrosis, and are available on different genetic backgrounds such as B6;C3H mixed (Stock No. 005315), B6C3Fe hybrid (Stock No. 006176), and C57BL6-congenic (Stock No. 006438). In an attempt to offer al ..... For more information please see the full phenotype on the strain data sheet
003301	B6C3FeF1 a/A-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. The Eya1^bor/Eya1^bor mice are deaf and their behavior is marked by circling and head-bobbing. They lack all but the most basal one-quarter of the cochlea, and the organ of Corti is completely absent. They have foreshortened, narrower semicircular canals and in some the common crus is incomplete. Their kidneys are absent or dysmorphic with greater severity generally on the left side. Fewe ..... For more information please see the full phenotype on the strain data sheet
012383	B6CBA-Tg(Myh6-Ppard)HEDpk/J	Cryopreserved - Ready for recovery
	The mouse Myh6 (myosin, heavy polypeptide 6, cardiac muscle, alpha) promoter drives expression of Ppard (peroxisome proliferator activator receptor delta) in these transgenic mice. Hemizygotes have increased myocardial glucose utilization, do not accumulate myocardial lipid, and have normal cardiac function. Expression levels in this "high expression" (HE) line are increased approximately 100-fold over endogenous levels. This strain may be useful in studies of cardiac function and metabolic modulation during diabetes and ischemia.
006010	B6Ei.129-Wnt4^tm1Amc/Ei	Cryopreserved - Ready for recovery

002044	B6Ei.Cg-Atp7a^Mo-blo/J	Cryopreserved - Ready for recovery
	Female mice heterozygous for the blotchy alleles (Atp7a^Mo-blo) are viable and fertile. They have irregular patches of light-colored fur. Hemizygous males and homozygous females have reduced viability and many are infertile. Hemizygotes and homozygotes are light all over with no blotching, are usually small, and occasionally have deformed hindlegs.. Most hemizygotes and homozygotes have defective elastin in the aorta and usually die with aortic aneurysm. Hemizygous males have enlarged air spaces in the lung (emphysema), probably because of defective elastin and collagen. Skin collagen and aortic elastin have defective crosslinking at the step at which lysine residues are converted to aldehydes. Hemizygous males have a deficiency of noradrenalin in the brain, probably because a deficiency of copper shown to exist in the brain causes defective activity of the enzyme dopamine-beta-hydroxylase. Copper absorption from the gut and hepatic copper concentration are reduced to ..... For more information please see the full phenotype on the strain data sheet
002557	B6Ei.GL-Nox3^het/J	Cryopreserved - Ready for recovery
	Head tilt (het) is an autosomal recessive mutation that can cause abnormal circling behavior and hyperactivity in affected mice. Homozygotes also exhibit a subtle head tilt. Together, the abnormal behavioral phenotype is consistent with that of a vestibular disorder. Evoked auditory brainstem response profiles are normal indicating that the mutants are not deaf. het/het mutants are unable to sense orientation under water and therefore, cannot swim properly. If held by the tail, het/het mice retract, rather than extend, their limbs; they also flex ventrally, instead of dorsally as wild type mice do. When lowered quickly by the tail, het/het mice fail to extend their forelimbs in a normal manner and have difficulty righting themselves if dropped vertically from a short distance. Morphological assessment of the inner ear of homozygotes reveals an abnormal appearance of the saccule and utricle owing to a complete absence of otoliths. Otoliths are tiny cal ..... For more information please see the full phenotype on the strain data sheet
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.
007555	B6SJL-Bicc1^tm1Emdr/J	Cryopreserved - Ready for recovery
	Homozygous mutants survive a few weeks after birth, but display polycystic kidney disease. LacZ expression was observed in the Henson's node at embryonic day 7.5 and in the endoderm of the gut at embryonic day 8.5
007553	B6SJL-Twsg1^tm1Emdr/J	Cryopreserved - Ready for recovery
	Homozygotes are viable and fertile, but are small in size and display mild vertebral abnormalities and osteoporosis. At lower penetrance, homozygous mutants die at birth and display holoprosencephaly. A loss of expression was confirmed by RT-PCR of mutant E13.5 embryonic cells.
004583	B6SJL-Tg(ABCG5/ABCG8)14-2Hobb/J	Cryopreserved - Ready for recovery
	These transgenic mice over-express the human ABCG5 and ABCG8 genes under the direction of their endogenous regulatory sequences. Copy number of the transgene was estimated using Southern blot analysis to compare transgenic mouse genomic DNA to human genomic DNA. These transgenic mice have approximately ten copies of the transgene. Northern blot analysis revealed the human transgene is expressed in the liver and small intestine. RT-PCR showed trace levels of transgene transcript in ovary tissue. Absorption of dietary cholesterol in transgenic mice is reduced by 50%. Mean fasting plasma cholesterol levels are significantly lower in female transgenic mice. Excretion of neutral sterols in feces is elevated to three times higher above normal in male transgenic mice and six times higher in female transgenic mice. Bile from transgenic animals is opaque as compared to the clear bile of wildtype animals. Cholesterol in the bile is elevated to levels five times higher than normal in male transge ..... For more information please see the full phenotype on the strain data sheet
002639	B6SJL-Tg(Myh6-ADRBK1)12Wjk/J	Cryopreserved - Ready for recovery
	Mice carrying this transgene show a 3 to 5 fold overexpression of bovine beta-adrenergic receptor kinase-1. Myocardial beta-adrenergic receptors are hyperphosphorylated and desensitized in hemizygotes resulting in attenuated cardiac function in response to beta-agonists.
002638	B6SJL-Tg(WTbeta2)4Wjk/J	Cryopreserved - Ready for recovery
	These transgenic mice exhibit increased basal myocardial adenylyl cyclase activity, enhanced atrial contractility, and increased left ventricular function in vivo; these parameters at baseline in the transgenic animals were equal to those observed in control animals maximally stimulated with isoproterenol. Mice carrying this transgene display a marked overexpression of the human beta-2 adrenergic receptor (~200 fold increase).
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.)
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.
001592	BALB/cByJ-Lpin1^fld/J	Cryopreserved - Ready for recovery
	The original fld (fatty liver dystrophy) mutation arose spontaneously at The Jackson Laboratory in the Animal Resources BALB/cByJ colony in 1981, and was maintained by sibling mating for 47 generations, then backcrossed once in 2001 to a male BALB/cByJ via homozygous ovarian transplant, then sibling mating resumed. Homozygotes can be identified soon after birth by an enlarged, pale liver and smaller overall body size. Although the hepatic steatosis resolves to normal at wean age, a neurological phenotype manifests by day 14 as a tremor and an unsteady gait which is most pronounced in the rear legs (Sweet et al. 1988). Both phenotypes stem from improper cellular processing of lipid. fld/fld mice are smaller than their normal littermates by three days of age and remain smaller throughout life. Hair growth is retarded and abnormal resulting in a ruffled, unkempt appearance in the adult. Homozygotes experience increased mortality between 19 and 35 days of age. A ..... For more information please see the full phenotype on the strain data sheet
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.
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
001192	BKS.Cg-mea^J Lepr^db +/+ + Dock7^m/J	Cryopreserved - Ready for recovery
	Mice homozygous for the meander tail-J spontaneous mutation (mea^J) have variably shortened and kinked tails. At about two weeks an unsteadiness of gait, often amounting to a tremor, appears. Homozygous mutant mice are smaller and less vigorous than wild-type controls but are fertile. The anterior lobe of the cerebellum is disorganized. Purkinje cells are scattered, some cellular layers never form, and Bergmann glial processes are absent. The cytoarchitecture of the posterior lobe is normal, and the transition from normal to disorganized areas is sharply demarcated. This mutation occurred in the BKS.Cg-Lepr^db +/+ Dock7^m strain so it is also segregating for the diabetes (Lepr^db) and misty (Dock7^m) mutations. See strain description for Stock No. 000642 for more information.
000696	BKS.V-Lep^ob/J	Cryopreserved - Ready for recovery
	Mice homozygous for the obese spontaneous mutation (Lep^ob, commonly referred to as ob or ob/ob) are first recognizable at about 4 weeks old. Homozygous mutant mice increase in weight rapidly and may reach three times the normal weight of wildtype controls. In addition to obesity, mutant mice exhibit hyperphagia; a diabetes-like syndrome of hyperglycemia, glucose intolerance, and elevated plasma insulin; subfertility; and increased hormone production from both pituitary and adrenal. They are also hypometabolic and hypothermic. The obesity is characterized by both an increased 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 stimulati ..... 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
002449	BXSB.129P2(B6)-B2m^tm1Unc/J	Cryopreserved - Ready for recovery
	BXSB mice develop spontaneous autoimmune disease characterized by moderate lymph node and spleen enlargement, hemolytic anemia, hypergammaglobulinemia, and immune complex glomerulonephritis. The disease process in BXSB is strikingly accelerated in males, which live little more than a third as long as females. The acceleration is due to the presence of the Yaa gene on the Y chromosome. Characteristics of mice homozygous for the B2m^tm1Unc targeted mutation include a lack of MHC class I protein expression on the cell surface. There are few CD8⁺ cytotoxic T-cells and under some circumstances a compensatory increase in CD4⁺ cytotoxic T-cells. Immune responses involving CD8⁺ T-cells are severely deficient providing a model to assess the role of CD8⁺ cells and class I MHC in various experimental systems. Hemachromatosis has been noted in certain genetic backgrounds (Rothenberg BE, Voland JR, Proc Natl Acad Sci USA 93: ..... For more information please see the full phenotype on the strain data sheet
002420	C.129P2(B6)-B2m^tm1Unc/J	Cryopreserved - Ready for recovery
	Mice homozygous for the B2m^tm1Unc targeted mutation have little if any MHC class I protein expression on the cell surface. There are few CD8⁺ cytotoxic T-cells and under some circumstances a compensatory increase in CD4⁺ cytotoxic T-cells. Immune responses involving CD8⁺ T-cells are severely deficient providing a model to assess the role of CD8⁺ cells and class I MHC in various experimental systems. Other traits of B2M deficient mice include: NK cells deficiency, NK1⁺ T cells deficiency and decreased levels of serum Ig. Some forms of lupis autoimmunity are severely reduced. (Christianson, J Immunol 156:4932-9, 1996). Hemachromatosis has been noted in certain genetic backgrounds (Rothenberg BE, Voland JR, Proc Natl Acad Sci USA 93:1529-34, 1996). In an attempt to offer alleles on well-characterized or multiple genetic backgrounds, alleles are frequently moved to a genetic background different from ..... For more information please see the full phenotype on the strain data sheet
003238	C.129S2(B6)-Ciita^tm1Ccum/J	Cryopreserved - Ready for recovery
	Mice homozygous for the targeted mutation are viable and fertile when housed under specific pathogen-free conditions. Mice do not express conventional MHC class II molecules on the surface of splenic B cells and dendritic cells. In addition, interferon gamma stimulated peritoneal macrophages and somatic tissues from homozygous mutant mice do not express MHC class II molecules. The levels of invarient chain and H2^m gene transcripts are substantially decreased in class II transactivator deficient mice. Homozygous mice have very few mature CD4 T cells in the periphery despite MHC class II expression in the thymus.
008699	C.129S2-Itgb3^tm1Hyn/J	Cryopreserved - Ready for recovery
	Mice that are homozygous for this targeted allele are viable and fertile. No gene product (protein) is detected on the surface of platelets. Significant (50%) embryonic lethality attributed to fetal hemorrhaging and placental defects is observed. Until three weeks of age, additional pup loss may occur due to hemorrhaging in the skin and gastrointestinal tract. Gastrointestinal tract bleeding is commonly observed in adults and is frequently associated with an enlarged spleen. Erythrocyte number, hemoglobin, hematocrits and thrombus formation are all reduced while bleeding time is prolonged. Varying degrees of liver and kidney necrosis are also observed. Although increased numbers of osteoclasts are observed (3.5 fold over that seen in heterozygotes) they appear to be dysfunctional, having a reduced ability to resorb whale dentin in vitro. Mice are osteosclerotic and hypocalcemic. Enhanced tumor angiogenesis and vascular endothelial growth factor-induced blood vessel growth are observed. ..... For more information please see the full phenotype on the strain data sheet
008237	C.129S4-Sele^tm1Dmil/J	Cryopreserved - Ready for recovery
	Mice homozygous for this E-selectin mutant allele (E^-/-) are viable and fertile with normal circulating leukocyte and platelet profiles. While several transcripts are generated from the mutant locus (due to transcription from the endogenous promoter and/or bidirectional transcription initiated from the pgk promoter in the neo-resistance cassette), these frame-shifted transcripts are non-functional with several predicted stop codons. In contrast to wildtype mice, no protein product is detected in several tissues isolated from LPS-injected homozygous mice. Homozygous mice exhibit abnormal responses to inflammatory stimuli. E-selectin deficiency results in endostatin unresponsiveness (as shown in corneal angiogenesis (mixed B6;129 genetic background) and aortic explant (C57BL/6 congenic background) experiments). These E-selectin mutant mice may be useful in studying inflammation, leukocyte rolling, leukocyte-endothelial adhesion, angiogenesis, and cancer. Of note, E-sel ..... For more information please see the full phenotype on the strain data sheet
008074	C.129S4-Traf1^tm1Tsi/TsiPryhJ	Cryopreserved - Ready for recovery
	Mice homozygous for the TRAF1 mutant allele (TRAF1^-/-) are viable and fertile. No protein expression from the targeted gene is observed in CD40-stimulated splenocytes isolated from homozygous mice. Homozygous mice on a BALB/c congenic background (BALB/c-TRAF1^-/-) exhibit acute liver injury and elevated serum liver enzymes following intratracheal TNF-alpha treatment. Furthermore, activated TRAF1^-/- T cells have significantly increased expression of Th2 cytokines (IL-4, IL-5 and IL-13) that elicit enhanced Th2 responses in vivo. BALB/c-TRAF1^-/- T cells exhibit elevated nuclear expression of NFAT-interacting protein (NIP45) and also induce significantly more intense pulmonary inflammation and higher airway hyper-responsiveness in OVA allergic inflammation models. Pulmonary leukocyte recruitment is attenuated following inhalation of lipopolysaccharide in BALB/c-TRAF1^-/- mice. Homozygous mice on a C57BL/6 congenic background ( ..... For more information please see the full phenotype on the strain data sheet
007680	C.129X1-Il4ra^tm1Tch/J	Cryopreserved - Ready for recovery
	Mice homozygous for this "IL4Rα Y500F" mutant allele are viable and fertile. The mice express a mutant IL4Rα chain with a phenylalanine substitution at the proximal tyrosine residue (Y500F) in the cytoplasmic tail. This residue is a critical component of the insulin/interleukin-4 receptor (I4R) motif, and is required for binding by phosphotyrosine-binding domain (PTB) adaptor proteins and for initiating subsequent downstream signaling cascades in response to IL-4. Allele-specific PCR verifies the amino acid substitution. The Y500F mutation abrogates insulin receptor substrate-2 (IRS-2) phosphorylation, and impairs IL-4-induced CD4+ lymphocyte proliferation with no reported effect on Stat6 activation, IL-4-responsive gene product up-regulation, or Th cell differentiation under Th2 polarizing conditions. In vivo, the Y500F mutation is associated with increased allergen-induced IgE production, airway hyper-responsiveness (AHR), tissue eosinophilia, goblet cell metaplasi ..... For more information please see the full phenotype on the strain data sheet
007746	C.129X1-Il4ra^tm2Tch/J	Cryopreserved - Ready for recovery
	Mice homozygous for this IL4Rα Q576R polymorphic allele (Il4ra^R576) are viable and fertile. The mutation introduces an arginine substitution at glutamine 576 (Q576R) in the protein sequence. This polymorphism is associated with severe asthma susceptibility and rapid smoking-associated lung function decline in human populations. Allele-specific PCR verifies the amino acid substitution. Homozygous mice exhibit heightened IgE responses in vivo, and augmented antigen- and IL-13-driven allergic airway inflammation. T cells from homozygotes show increased production of IL-4 in a Th2 polarized milieu. The R576 substitution is associated with enhanced Erk kinase activation with no reported effect on the activation of other canonical IL-4Rα-coupled pathways. These Il4ra^R576 mutant mice may be useful in immunological studies of mitogenic signal transduction, specifically antigen-specific antibody responses, allergic airway inflammation, atop ..... For more information please see the full phenotype on the strain data sheet
012709	C.129X1-Il4ra^tm3.1Tch/J	Cryopreserved - Ready for recovery
	Mice homozygous for this Il4ra^F709 (IL-4Rα Y709F) polymorphic allele are viable and fertile. The mutation introduces a tyrosine to phenylalanine amino acid substitution at codon 709 (Y709F) within the canonical immunoreceptor tyrosine-based inhibitory motif (ITIM) sequence near the carboxyl-terminus of the protein. This Y709F polymorphism prevents ITIM phosphorylation and inhibit the binding of regulatory phosphatases (including Src homology 2 domain-containing protein tyrosine phosphatase 1 [SHP-1]), resulting in enhanced receptor signaling. Allele-specific PCR verifies the Y709 to F709 codon substitution. Homozygous mice exhibit enhanced phosphorylation of signal transducer and activator of transcription 6 (STAT6) in B cells following IL-4 treatment, and increased serum concentrations of total IgE and ovalbumin (OVA)-specific IgE after immunization with OVA/alum. Il4ra^F709/F709 mice have increased allergic airway inflammation (peribronchial a ..... For more information please see the full phenotype on the strain data sheet
002662	C.Cg-Fech^m1Pas/J	Cryopreserved - Ready for recovery
	Homozygous mutants are recognizable by the intense yellow color of their sera, gross bilirubinemia, and, especially in albino mice, jaundice. Photosensitivity is evidenced by the appearance of inflammatory skin lesions, often becoming ulcerous, under standard mouseroom conditions (fluorescent light). Mutants do not differ from their normal littermates in body size or weight, nor are they retarded in growth. They exhibit hepatomegaly and splenomegaly, leading to enlarged abdomens after several months of age. Although mutants are not anemic at one month old, normocytic anemia develops with age.
006245	C.Cg-Tg(SFTPC-rtTA)5Jaw/J	Cryopreserved - Ready for recovery
	Hemizygous transgenic mice are viable, fertile, normal in size, and do not display any gross physical or behavioral abnormalities. These transgenic mice express the reverse tetracycline-controlled transactivator (rtTA) protein under the control of the human SFTPC, surfactant, pulmonary-associated protein C, promoter. rtTA activity is detected in lung peripheral epithelial cells from adult mice and in embryos from pregnant females treated with the tetracycline analog, doxycycline (dox). In the latter, rtTA-induced expression of a luciferase reporter under the regulation of a tetracycline-responsive promoter (TRE; tetO) has been detected as early as embryonic day 10.5. When hemizygotes are mated to a second transgenic strain carrying a gene of interest under the regulatory control of a TRE, expression of the target gene in the bitransgenic offspring may be regulated by dox; in the presence of dox, transcription of the target gene is induced in cells where rtTA is expressed. This ..... For more information please see the full phenotype on the strain data sheet
006242	C.Cg-Tg(Scgb1a1-rtTA)1Jaw/J	Cryopreserved - Ready for recovery
	Mice hemizygous for the CCSP-rtTA transgene are viable, fertile, normal in size, and do not display any gross physical or behavioral abnormalities. These transgenic mice express the reverse tetracycline-controlled transactivator (rtTA) protein under the control of the rat Scgb1a1, secretoglobin, family 1A, member 1 (uteroglobin), gene promoter. In situ hybridization detects rtTA gene product (mRNA) in bronchial and type II epithelial cells of lung tissue from adult transgenic mice treated with doxycycline for seven days. Induction of transgene expression is detected as early as postconception day 14 when the pregnant female is treated with doxycycline. When mated to a second transgenic strain carrying a gene of interest under the regulatory control of a tetracycline-responsive promoter element (tetO), expression of the target gene may be regulated by the tetracycline analog, doxycycline (dox); in the presence of dox, transcription of the target gene is induced in cells where rtT ..... For more information please see the full phenotype on the strain data sheet
004040	C3.129P2(B6)-B2m^tm1Unc/Dcr	Cryopreserved - Ready for recovery
	Mice homozygous for the B2m^tm1Unc targeted mutation have little if any MHC class I protein expression on the cell surface. There are few CD4- CD8+ cytotoxic T-cells and under some circumstances there is a compensatory increase in CD4+ cytotoxic T-cells. Immune responses involving CD8+T-cells are severely deficient, providing a model to assess the role of CD8+ cells and class I MHC in various experimental systems. Hemachromatosis has been noted in certain genetic backgrounds.
002439	C3.129P2(B6)-B2m^tm1Unc/J	Cryopreserved - Ready for recovery
	Mice homozygous for the B2m^tm1Unc targeted mutation have little if any MHC class I protein expression on the cell surface. There are few CD8⁺ cytotoxic T-cells and under some circumstances a compensatory increase in CD4⁺ cytotoxic T-cells. Immune responses involving CD8⁺T-cells are severely deficient providing a model to assess the role of CD8⁺ cells and class I MHC in various experimental systems. Hemachromatosis has been noted in certain genetic backgrounds (Rothenberg BE, Voland JR, Proc Natl Acad Sci USA 93:1529-34, 1996). 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 ..... For more information please see the full phenotype on the strain data sheet
001768	C3.Cg-Irs1^Sml H2^b/GrsrJ	Cryopreserved - Ready for recovery
	The small mutation causes hyperinsulinemia with only mild insulin resistance, a paucity of body fat, deficiencies in bone development and homeostasis, and hearing loss. Homozygotes can be distinguished by 2 weeks of age by their smaller body size and thin short tails, and adult homozygotes are visibly smaller with a tail that is 20% shorter than in wild-type controls. Hearing loss was shown through increased ABR threshold values when assessed between 8 and 12 weeks of age. The skeletal defects include shortened femurs with smaller growth plates, decreased cortical and trabecular thickness and abnormal trabecular number, with an increase in the number of osteoclasts and osteoblasts per bone perimeter but impaired osteoblast proliferation and differentiation in culture. This spontaneous point mutation is semidominant in some aspects of phenotype, unlike targeted mutations of this gene. Heterozygotes are statistically smaller than wild-type controls, but the severity of dwarfing is not ..... For more information please see the full phenotype on the strain data sheet
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
000232	C3Fe.C3-Ap3b1^pe/J	Cryopreserved - Ready for recovery
	The homozygous pearl phenotype includes hypopigmentation of hair and eyes, prolonged bleeding times associated with platelet storage pool deficiency (SDP) and lysosomal accumulation of ceroid pigment. This combination of abnormalities is characteristic of a human hereditary disease, Hermansky-Pudlak syndrome. Pearl mice also exhibit reduced sensitivity in the dark-adapted state, altered somatostatin binding to the retina, and an increased rate of renal apoptosis, making them a potential model for human congenital stationary night blindness.
000225	C3FeLe.B6 a/a-Ptpn6^me/J	Cryopreserved - Ready for recovery
	Mice homozygous for the motheaten spontaneous mutation (Ptpn6^me) 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, 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.
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
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.
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
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.
002546	C3Ou.129S2-Rb1^tm1Tyj/J	Cryopreserved - Ready for recovery
	Mice homozygous for this targeted mutation die in utero, apparently from a failure to produce erythrocytes in the liver, demonstrating that the endogenous gene is essential for normal development. Heterozygous mice, which are analogous to human carrier individuals, do not develop retinal tumors, but do develop pituitary tumors by 8 months of age. In an attempt to offer alleles on well-characterized or multiple genetic backgrounds, alleles are frequently moved to a genetic background different from that on which an allele was first characterized. This is the case for this strain. It should be noted that the phenotype could vary from that originally described. We will modify the strain description if necessary as published results become available.
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
012371	C57BL/6-Bdkrb2/Bdkrb1^tm1Mki/J	Cryopreserved - Ready for recovery
	Mice homozygous for the targeted mutation, commonly referred to as B1RB2R -/-, are viable, fertile and display no major defects. At 4 months of age non-manipulated B1RB2R -/- mice exhibit no significant differences in blood pressure or kidney function when compared to Bdkrb2 deficient mice (Stock No. 006860). Fasted B1RB2R -/- mice exhibit significantly lower levels of plasma nitrite/nitrate compared to Bdkrb2 deficient mice. Post-ischemic B1RB2R -/- mice exhibit significantly higher plasma levels of urea nitrogen and creatinine, higher levels of oxidative nuclear and mitochondrial DNA modification, and increased rates of apoptosis and mortality than either wildtype or Bdkrb2 deficient mice. Histological evaluation of the kidney indicates that post ischemic B1RB2R -/- mice exhibit more severe histological changes in the renal proximal tubules than either wildtype or Bdkrb2 deficient mice (Kakoki, et al, 2007). This Bdkrb1/Bdkrb2 targeted ..... For more information please see the full phenotype on the strain data sheet
010683	C57BL/6-Enam^tm1.1Jcch/J	Cryopreserved - Ready for recovery
	Mice homozygous for the Enam-null/lacZ knock-in allele (Enam^- or Enam^lacZ) are viable and fertile, with a nuclear-localized β-galactosidase (NLS lacZ) translation initiation site and coding region replacing the Enam translation initiation site and 5'-coding region. This abolishes endogenous gene function; no enamelin protein is observed in homozygous mice. Under control of the upstream promoter/enhancer elements, lacZ expression is directed to ameloblasts (the enamel-forming cells in developing teeth) during the secretory stage of dental enamel formation. Enam-deficiency results in improper tooth enamel matrix organization/mineralization, altered gross tooth morphology, and premature tooth structural loss. Homozygous mice exhibit no true enamel covering the dentin and a high degree of occlusal wearing (even when fed moistened chow). Heterozygous mice have a milder phenotype primarily evident in the mandibular incisors. These Enam^lacZ ..... For more information please see the full phenotype on the strain data sheet
008517	C57BL/6-Gt(ROSA)26Sor^{tm3(CAG-MIR17-92,-EGFP)Rsky}/J	Cryopreserved - Ready for recovery
	Mice homozygous for the "miR-17-92 transgene" conditional allele are viable and fertile, with a loxP-flanked Neo-STOP cassette preventing transcription of the downstream bicistronic sequences (human miR-17-92 cluster (encoding the precursor of seven miRNA molecules; miR-17-5p, miR-17-3p, miR-18a, miR-19a, miR-20a, miR-19b and miR-92) and EGFP). When bred to mice that express Cre recombinase, the resulting offspring will have the STOP cassette deleted in the cre-expressing tissue(s); resulting in expression of the human miR-17-92 cluster. Because the synthetic CAG promoter driven miR-17-92 transgene was targeted for insertion into the Gt(ROSA)26Sor locus, expression of the transgene is determined by which tissue(s) express Cre recombinase. EGFP fluorescence, however, is not reported following exposure to Cre recombinase (presumably due to RNaseIII excision of the stem-loop structures encoding individual miRNA destabilizing the EGFP portion of the primary transcript ..... For more information please see the full phenotype on the strain data sheet
008711	C57BL/6-H2-T3^tm1Luc/J	Cryopreserved - Ready for recovery
	The mouse thymus leukemia (TL) antigen is a nonclassical MHC class I molecule encoded by a locus within the MHC complex harboring two genes; H2-T3 and H2-T18. TL binds with high affinity to the CD8αα molecule expressed on the vast majority of intraepithelial lymphocytes (IEL), and the interaction of CD8αα with TL is important for lymphocyte regulation in the intestine. The C57BL/6 genetic background normally has the functional H2-T3^d allele and a mutant H2-T18^b allele known to result in no expression on the surface of intestinal epithelial cells (IEC). Because these mutant mice harbor a targeted mutation of the H2-T3 gene that abolishes gene function, expression of TL protein (antibody staining) and RNA (RT-PCR) from either locus is absent in IEC and small/large intestine, respectively. These TL-deficient mice may be useful in studying thymus leukemia (TL) antigen-deficiency on CD8αα intraepith ..... For more information please see the full phenotype on the strain data sheet
007707	C57BL/6-Itgb7^tm1Mshi/J	Cryopreserved - Ready for recovery
	Mice homozygous for this β₇ (D146A) targeted mutation are viable and fertile. DNA sequencing confirms an aspartate (D) to alanine (A) substitution at position 146 of the targeted β₇ integrin gene. As such, homozygotes have a mutant ADMIDAS (adjacent to metal ion-dependent adhesion site) cation binding/exchange site in the β₇ integrin head (A-domain). The resulting imbalance between the non-adhesive and adhesive states of leukocyte integrins skews toward a persistently adhesive state. Homozygous mutants exhibit impaired leukocyte migration, perturbed lymphocyte trafficking in the gut, and reduced T- and B-cell numbers in small/large bowel and gut-associated lymphoid tissues (less T-cells in Peyer's patches (PP), fewer intraepithelial lymphocyte (IEL) and lamina propria lymphocyte (LPL) compartments in the small intestine; and less B-cells in PP and the large intestine). In addition, CD4⁺CD45RB^high T cells isolated fro ..... For more information please see the full phenotype on the strain data sheet
010684	C57BL/6-Klk4^tm1.1Jpsi/J	Cryopreserved - Ready for recovery
	Mice homozygous for the Klk4-null/lacZ knock-in allele (Klk4^- or Klk4^lacZ) are viable and fertile, with a nuclear-localized β-galactosidase (NLS lacZ) translation initiation site and coding region replacing the Klk4 translation initiation site and coding region. This abolishes endogenous gene function. Under control of the upstream promoter/enhancer elements, lacZ expression is directed to ameloblasts (the enamel-forming cells in developing teeth) during the transition and maturation stages of dental enamel formation. Klk4-deficiency results in improper dental enamel matrix biomineralization, altered gross tooth morphology, and premature tooth decay. Homozygous mice exhibit malformed enamel that is rapidly abraded after weaning (even when fed moistened chow) and a tendency for all teeth to fracture at points of contact. Heterozygous mice appear indistinguishable from wildtype mice. These Klk4^lacZ mice may be useful for studyi ..... For more information please see the full phenotype on the strain data sheet
013632	C57BL/6-b2b019Clo/J	Cryopreserved - Ready for recovery
	This undefined b2b019Clo mutation was identified in an ENU screen for recessive cardiovascular development phenotypes in Dr. Cecilia Lo's laboratory, NHLBI Cardiovascular Development Consortium (CvDC). It was recovered from G1 sperm and associated with the phenotype described here. Because G1 sperm were cryopreserved, additional incidental mutations are also segregating in this strain. Homozygotes demonstrate cardiovascular defects that involve a double outlet right ventricle (DORV) and ventricular septal defect (VSD). Cleft palate and micrognathia (abnormally small lower jaw) are also seen.
007744	C57BL/6-Tg(APOE-DGAT2)24Far/J	Cryopreserved - Ready for recovery
	Mice hemizygous for this LivLE6-DGAT2 transgene are viable and fertile, with human DGAT2 expression directed to the liver by the hepatic promoter/enhancer sequences from the human apolipoprotein E gene. Mice from founder line 24 (referred to as Liv-DGAT2-low) have an approximately 2-fold increase in total hepatic DGAT2 mRNA/protein expression, with no reported overexpression in kidney, brain, or skeletal muscle. As DGAT2 is one of two enzymes that catalyze the final step of triacylglycerol (TG) biosynthesis, transgenic mice develop hepatic steatosis with increased hepatic TG and insulin signaling lipid (diacylglycerol, ceramide and unsaturated Fatty AcylCoA) content. Liv-DGAT2-low mice also exhibit increased transcription of fatty acid synthesis genes (SREBP-1c, fatty acid synthase, and stearoyl CoA desaturase 1). Fasted mice show a 65% decrease in plasma TG, but are not insulin resistant (blood glucose and insulin are similar to wildtype). Liv-DGAT2-low mice challenged with a high-fat ..... For more information please see the full phenotype on the strain data sheet
008842	C57BL/6-Tg(Lck-VIPR2)1Ejg/J	Cryopreserved - Ready for recovery
	These "VPAC2 R TG mice" (or VPAC₂R Tg mice) are viable and fertile, harboring the LCK-huVPAC2 transgene. This transgene has the murine lymphocyte protein tyrosine kinase (Lck) proximal promoter directing persistently high expression of huVPAC₂R (human vasoactive intestinal peptide G-protein-coupled receptor 2 [VIPR2 or VIPR₂]) primarily to CD4⁺ T cells (T-helper/inducer cells). As such, expression of huVPAC₂R mRNA and protein is highest in spleen and thymus, but also observed in other tissues at much lower levels. The constitutive high huVPAC₂R expression on CD4⁺ T cells is characteristic of levels usually observed only after maximal TCR stimulation. Transgenic mice have elevated blood IgE, IgG1, and eosinophil levels. The effector T cell phenotype is altered; with Th2-bias cytokine profiles (increased IL-4, IL-5, c-maf and junB) associated with altered hypersensitivity states (increased immedi ..... For more information please see the full phenotype on the strain data sheet
010718	C57BL/6-Tg(Scgb1a1-Il17a)3Cdon/J	Cryopreserved - Ready for recovery
	Mice that are hemizygous for this transgene are viable, fertile and normal in size. By three months of age, hemizygotes exhibit lung inflammation characterized by hypertrophic lung epithelium in the bronchus and bronchiole as well as thickening of the alveolar walls. After 3 months, large eosinophilic macrophages are observed in lung parenchyma, followed by infiltration of CD4+ lymphocytes beginning at 5 months. Older mice exhibit thin crystals in the bronchioles, mucus production, collagen accumulation in bronchioles and increased chemokine expression. This mutant mouse strain may be useful in studies of airway inflammation and T-cell mediated inflammatory diseases.
005921	C57BL/6J-Aqp2^F204V/J	Cryopreserved - Ready for recovery
	Mice homozygous for this mutation are viable with normal body size and lifespan. Homozygotes are fertile, but females usually die during labor. The predicted valine for phenylalanine substitution at amino acid 204 of the mutant protein (F204V) leads to an enrichment in kidney cells of a normally short-lived, intermediately glycosylated 31 kDa isoform and to a reduction in the mature, glycosylated protein level. The mutant AQP2^F204V protein is mis-localized in kidney collecting duct cells, and fails to translocate to the apical cell surface in response to desmopressin. Homozygous mice exhibit excessive water consumption and urination, normal plasma glucose levels, and no glucose in the urine. Mutant mice are unable to concentrate urine and exhibit severe hydronephrosis. The presence of some mature, glycosylated protein and a defective, but not completely absent, desmopressin response in homozygous mutant mice likely permits their survival. Heterozygous mice are viable and fer ..... For more information please see the full phenotype on the strain data sheet
000530	C57BL/6J-Aqp2^cph/J	Cryopreserved - Ready for recovery

013633	C57BL/6J-Bicc1^b2b222Clo/J	Cryopreserved - Ready for recovery
	This c.10048T->C Bicc1 (bicaudal C homolog 1 (Drosophila)) recessive mutation was identified in an ENU screen for recessive cardiovascular development phenotypes in Dr. Cecilia Lo's laboratory, NHLBI Cardiovascular Development Consortium (CvDC). It was recovered from G1 sperm and associated with the phenotype described described here. Because G1 sperm were cryopreserved, additional ENU mutations are also segregating in this strain. Homozygotes demonstrate laterality defects, including situs inversus totalis, and heterotaxy. Congenital heart disease (CHD) is marked by double outlet right ventricle (DORV)/transposition of the great arteries (TGA), atrioventricular septal defects (AVSD), and an interrupted aortic arch (IAA). Polycystic kidney disease, as well as pancreatic, choleductal, and gonadal cysts are also found.
013619	C57BL/6J-Dnahc5^b2b016Clo/J	Cryopreserved - Ready for recovery
	This c.10048T->C Dnahc5 (dynein, axonemal, heavy chain 5) recessive mutation was identified in a recessive ENU screen for cardiovascular development phenotypes in Dr. Cecilia Lo's laboratory, NHLBI Cardiovascular Development Consortium (CvDC). It was recovered from G1 sperm and associated with the phenotype described here. Because G1 sperm were cryopreserved, additional incidental mutations are also segregating in this strain. Homozygotes demonstrate laterality defects including situs inversus and heterotaxy. Congenital heart disease (CHD) is marked by double outlet right ventricle (DORV)/aortic override (AO), atrioventricular septal defects (AVSD) and likely other structural heart defects. Slow ciliary motility in the tracheal airway with some areas of immotility, and duplex/duplicated kidneys are also seen.
013634	C57BL/6J-Dnaic1^b2b284Clo/J	Cryopreserved - Ready for recovery
	This c.240+1G>A Dnaic (dynein, axonemal, intermediate chain 1) recessive mutation was identified in an ENU screen for recessive cardiovascular development phenotypes in Dr. Cecilia Lo's laboratory, NHLBI Cardiovascular Development Consortium (CvDC). It was recovered from G1 sperm and associated with the phenotype described described here. Because G1 sperm were cryopreserved, additional incidental ENU mutations are also segregating in this strain. Homozygotes demonstrate laterality defects including situs inversus totalis and heterotaxy. Congenital heart disease (CHD) is marked by atrioventricular septal defects (AVSD) and transposition of the great arteries (TGA). Hypoplastic spleen and asplenia are also observed. The cilia of the trachea are immotile, but a few show a twitching motion.
004109	C57BL/6J-Glra1^nmf11/J	Cryopreserved - Ready for recovery
	Early onset visible phenotype characterized by small size and severely impaired gait that becomes detectable between 18-21 days (mean 18.6 +/- 1.7 days). Gently dropping the animals from a height of 10-15cm onto a soft surface frequently induces intense seizure-like behavior that may last several minutes (generalized seizure-like episodes, including front and hind limb contractions, hind limb extensions); however the animals recover and continue to move around. Electroretinograms (ERG) showed abnormal b-waves in three (2 males, 1 female) of four mutants examined. Mutants of either gender have been produced; homozygotes are not viable. ..... For more information please see the full phenotype on the strain data sheet
000542	C57BL/6J-Hps5^ru2-J/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.
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
003779	C57BL/6J-Nek1^kat-3J/J	Cryopreserved - Ready for recovery

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)
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.
008791	C57BL/6J-Rnl11/Pgn	Cryopreserved - Ready for recovery
	Mice homozygous for this ENU induced mutation exhibit decreased kidney function as measured by an increased albumin/creatinine ratio (ACR).
016255	C57BL/6J-Rnl16/BPgn	Cryopreserved - Ready for recovery
	Mice that are homozygous for the mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. Screening of third generation mice (G3) on standard chow identified a 20 week old male with an increased blood urea nitrogen (BUN) of 34 mg/dL. Testing one week later confirmed the increased BUN value (34 mg/dL). This mutant mouse strain may be useful in studies of kidney function.
008793	C57BL/6J-Rnl18/Pgn	Cryopreserved - Ready for recovery
	Mice that are homozygous for the mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. Screening of third generation mice (G3) on standard chow identified a 20 week old male with an increased blood urea nitrogen (BUN) of 36 mg/dL. Testing one week later confirmed the increased BUN value (33 mg/dL). This mutant mouse strain may be useful in studies of kidney function.
008794	C57BL/6J-Rnl20/Pgn	Cryopreserved - Ready for recovery
	Mice homozygous for this ENU induced mutation exhibit decreased kidney function as measured by an increased albumin/creatinine ratio (ACR).
008795	C57BL/6J-Rnl23/Pgn	Cryopreserved - Ready for recovery
	Mice that are homozygous for the mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. Screening of third generation mice (G3) on standard chow identified a 20 week old male (born 3/28/2006) with an increased blood urea nitrogen (BUN) of 37 mg/dL. Testing one week later confirmed the phenotype (BUN=55 mg/dL). This mutant mouse strain may be useful in studies of kidney function and blood homeostasis.
008796	C57BL/6J-Rnl25/APgn	Cryopreserved - Ready for recovery
	Mice homozygous for this ENU induced mutation exhibit decreased kidney function as measured by increased blood/urea/nitrogen levels (BUN). In the F2 and F3 generations, some animals exhibited increased albumin/creatinine ratios (ACR). In succeeding generations, mice with elevated ACR were bred to establish the "A" line. Mice with elevated BUN were bred to establish the "B" line (Stock No. 016256).
016256	C57BL/6J-Rnl25/BPgn	Cryopreserved - Ready for recovery
	Mice that are homozygous for the mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. Screening of third generation mice (G3) on standard chow identified a 20 week old male with an increased blood urea nitrogen (BUN) of 34 mg/dL. Testing one week later confirmed the increased BUN value (35 mg/dL). This mutant mouse strain may be useful in studies of kidney function.
008412	C57BL/6J-Rnl27/J	Cryopreserved - Ready for recovery
	Mice that are homozygous for the mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. Screening of third generation mice (G3) on standard chow identified a 20 week old male (born 5/17/2006) with an increased blood urea nitrogen (BUN) of 47 mg/dL. Testing one week later confirmed the increased BUN value (52 mg/dL). This mutant mouse strain may be useful in studies of kidney function.
016916	C57BL/6J-Rnl27/Pgn	Cryopreserved - Ready for recovery
	Mice that are homozygous for the mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. Screening of third generation mice (G3) on standard chow identified a 20 week old male with an increased blood urea nitrogen (BUN). Testing one week later confirmed the increased BUN value. This mutant mouse strain may be useful in studies of kidney function.
008798	C57BL/6J-Rnl29/Pgn	Cryopreserved - Ready for recovery
	Mice homozygous for this ENU induced mutation exhibit decreased kidney function as measured by increased blood/urea/nitrogen levels (BUN).
008801	C57BL/6J-Rnl32/Pgn	Cryopreserved - Ready for recovery
	Mice that are homozygous for the mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. Screening of third generation mice (G3) on standard chow identified a 20 week old male (born 6/25/2006) with an increased blood urea nitrogen (BUN) of 37 mg/dL. Testing one week later confirmed the phenotype (BUN=35 mg/dL). This mutant mouse strain may be useful in studies of kidney function and blood homeostasis.
008803	C57BL/6J-Rnl43/Pgn	Cryopreserved - Ready for recovery
	Mice homozygous for this ENU induced mutation exhibit decreased kidney function as measured by increased blood/urea/nitrogen levels (BUN).
008785	C57BL/6J-Stk39^Rnl5/Pgn	Cryopreserved - Ready for recovery
	Mice that are homozygous for the mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. Screening of third generation mice (G3) on standard chow identified a 20 week old male (born 11/21/2002) with an increased albumin-creatinine ratio of 22 mg/g. Retesting one week later confirmed this observation with a reading of 91 mg/g. This mutant mouse strain may be useful in studies of albuminuria.
013617	C57BL/6J-b2b288Clo/J	Cryopreserved - Ready for recovery
	This undefined b2b288Clo mutation was identified in an ENU screen for recessive cardiovascular development phenotypes in Dr. Cecilia Lo's laboratory, NHLBI Cardiovascular Development Consortium (CvDC). It was recovered from G1 sperm and associated with the phenotype described here. Because G1 sperm were cryopreserved, additional incidental mutations are also segregating in this strain. Homozygotes demonstrate cardiovascular defects that involve a double outlet right ventricle (DORV), transposition of great arteries, dextrocardia, and complete atroventricular septal defect (AVSD). Heterotaxia is also seen.
013618	C57BL/6J-b2b386Clo/J	Cryopreserved - Ready for recovery
	This undefined b2b386Clo mutation was identified in an ENU screen for recessive cardiovascular development phenotypes in Dr. Cecilia Lo's laboratory, NHLBI Cardiovascular Development Consortium (CvDC). It was recovered from G1 sperm and associated with the phenotype described here. Because G1 sperm were cryopreserved, additional incidental mutations are also segregating in this strain. Homozygotes demonstrate cardiovascular defects that involve a double outlet right ventricle (DORV), common atrioventricular (AV) valve, duplicated inferior vena cava (IVC), interrupted/hypoplastic aortic arch, ventricular septal defect (VSD), and interrupted aortic arch (IAA). Left lung isomerism, left liver isomerism, and cleft palate are also seen.
008269	C57BL/6J-hlb414/J	Cryopreserved - Ready for recovery
	Mice that are homozygous for the mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. Screening of third generation mice (G3) on standard chow identified a 9 week old male (born 2/15/2004) exhibiting a hyper-response to methacholine (MCH). Absolute Penh values are as follows: saline control 0.46(0.66), 5mg/ml MCH 0.64(0.60), 10 mg/ml MCH 0.92(1.28), 20 mg/ml MCH 4.54(12.48). Second run values are in parenthesis. This mutant mouse strain may be useful in studies of asthma and airway hyper-responsiveness (AHR).
008280	C57BL/6J-hlb454/J	Cryopreserved - Ready for recovery
	Mice that are homozygous for the mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. Screening of third generation mice (G3) on atherogenic diet identified a 9 week old male (born 9/12/2004) exhibiting a hyper-response to methacholine (MCH). Absolute Penh values are as follows: 5mg/ml MCH 0.1.37(0.98), 10 mg/ml MCH 2.01(1.94), 20 mg/ml MCH 11.47(5.28). Second run values are in parenthesis. Two siblings were similarly affected. This phenotype has been validated by an invasive resistance evaluation using a flexivent protocol. This mutant mouse strain may be useful in studies of asthma and airway hyper-responsiveness (AHR).
004765	C57BL/6J-nmf148/J	Cryopreserved - Ready for recovery
	The mutants are small and show an intense body tremor with unsteady, 'seal-like' gait; their hind limbs appear weak, i.e. appear to carry the body weight with difficulty only, and sometimes one or the other hind limb lags behind. The phenotype can be observed at 3.5 weeks of age (+/-0.63; n=118). Mice of either gender are affected. Standard pathology work-up on two mutants (27 or 28 days of age) revealed a hypoplastic spleen with atrophy of both lymphoid and hemaopoietic areas, and atrophy of the thymus in both mice. Hypoplastic bone marrow was noted in one, and fatty changes in the liver were noted in the other animal. View strain phenotype and additional information on the Neuroscience Mutagenesis Facility web page for nmf148 entry.
005863	C57BL/6J-Tg(ACTB-DDAH1)1Jpck/J	Cryopreserved - Ready for recovery
	Hemizygous mice are viable and fertile with no anatomic abnormalities. Transgene expression is observed in aorta, heart, and brain. Transgenic dimethylarginine dimethylaminohydrolase (DDAH) activity is reflected in a reduction of plasma asymmetric dimethylarginine (ADMA). Nitric oxide synthase (NOS) activity is significantly increased in transgenic skeletal and cardiac muscle. Transgenic mice have lower blood pressure and higher heart rate. Transgenic mice may be useful in studies of atherosclerosis, hypertension, hyperlipidemia, hypercholesterolemia, hyperhomocystinemia, diabetes mellitus, stroke, renal failure, preeclampsia, and other conditions associated with vascular pathophysiology and/or cardiovascular disease.
002244	C57BL/6J-Tg(Apoa2)1Lus/J	Cryopreserved - Ready for recovery
	This strain carryies the mouse apolipoprotein A-II transgene. Fasting plasma APOA2 concentrations in transgenic mice are on average about 3-fold higher than normal wildtype siblings with males showing a 1.5-fold higher level than females. ApoA-I concentraions are normal. These mice show a 3-fold increase in plasma triglyceride levels, as well as a predisposition to atherosclerotic fatty streak lesions even on a low fat diet.
002230	C57BL/6J-Tg(LckIl4)1315Dbl/J	Cryopreserved - Ready for recovery
	Transgenic mice overexpressing the IL4 transgene under the control of the Lck promoter show severe osteoporosis of both cortical and trabecular bone by 2 months in both males and females. There is decreased bone formation by osteoblasts and kyphosis; characterized by long snout ("weasel face") by 6 weeks of age.
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.
010902	C;129-Crhr2^tm1Jsp/J	Cryopreserved - Ready for recovery
	Male mice lacking expression of corticotropin releasing hormone receptor 2 (Crhr2) exhibit enhanced anxious behavior in several tests of anxiety, including the elevated plus-maze test and the dark-light emergence task. Female targeted mutant mice do not show this increase of anxiety-like behavior. Mice show impaired responses in specific brain regions involved in emotional and autonomic function as monitored by a reduction of Creb phosphorylation in male, but not female, homozygous targeted mice. Male and female deficient animals display a larger edema response in response to thermal injury than do their wildtype littermates.
005417	C;129P2-Npy2r^tm1Pern/J	Cryopreserved - Ready for recovery
	Mice that are homozygous for the targeted mutation are viable, fertile and do not display any gross physical or behavioral abnormalities. By 1 month of age, mutant mice exhibit mild obesity. High-fat (Western) diet enhances the weight increase in female mutants. Northern blot analysis of hypothalamus detects mRNA encoding beta-galactosidase and not the endogenous mRNA. Beta galactosidase activity pattern mimic the endogenous gene expression pattern. Y2 receptor binding experiments confirm loss of activity. Mice homozygous for the mutation have increased night time basal heart rate compared to wildtype and exhibit reduced activity levels. Increased food intake is observed. Short term leptin administration elicits a decreased response of 15.2% food intake reduction compared to the 30.5% reduction seen in wildtype controls. Mutant mice are more sensitive to sodium Phenobarbital-induced sedation. Treatment with neuropeptide Y does not induce angiogenesis in the cornea. Wound healing in the ..... For more information please see the full phenotype on the strain data sheet
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
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.
000936	CBy.AK-Tg^cog/J	Cryopreserved - Ready for recovery
	The Tg^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 display 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. Tg^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
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
007073	CByJ.129P2(B6)-Nos3^tm1Unc/J	Cryopreserved - Ready for recovery
	Mice homozygous for the Nos3^tm1Unc targeted mutation are viable and fertile. They have elevated blood pressure that is about 20 mmHg higher than that seen in normal wildtype siblings. They also show a decreased heart rate. Female homozygotes are smaller in body weight than normal wildtype siblings. Hyperglycemic-euglycemic clamp studies demonstrate that homozygotes exhibit insulin resistance at the level of the liver and peripheral tissues. This mutant mouse strain may be useful in studies of wound healing, hypertension and other cardiovascular defects, insulin resistance, hyperlipidemia and lung development. In an attempt to offer alleles on well-characterized or multiple genetic backgrounds, alleles are frequently moved to a genetic background different from that on which an allele was first characterized. This is the case for the strain above. It should be noted that the phenotype could vary from that originally described. We will modify the strain de ..... For more information please see the full phenotype on the strain data sheet
007683	CByJ.129X1(Cg)-Apob^tm1.1Zc/J	Cryopreserved - Ready for recovery
	Mice homozygous for this apoB38.9 allele (apoB^38.9/38.9) are viable with impaired fertility, bearing a premature stop codon at residue 1767 of the targeted gene. As a result, homozygous plasma shows a truncated apoB38.9 as the sole apoB protein. Plasma from heterozygous (apoB^+/38.9) mice have reduced apoB100 and apoB48 compared to wild-type, with apoB38.9 representing 20% of total circulating apoB. This apoB38.9 truncation affects both apoB100 and apoB48 metabolism in mice, and mimics human Familial Hypobetalipoproteinemia (FHBL). Homozygous and, to a lesser extent, heterozygous mice exhibit symptoms of FHBL due to impaired lipoprotein export system/VLDL secretion, including elevated hepatic triglyceride (TG), cholesterol and free fatty acids (FFA), with decreased plasma TG and cholesterol. These BALB/cByJ-apoB38.9 mice are also heterozygous for the BALB/cByJ-derived SCAD deletion (Acads^del-J). While BALB/cByJ inbred mice have elevated liver TG f ..... For more information please see the full phenotype on the strain data sheet
001723	CByJ.A-Ttc7^fsn/J	Cryopreserved - Ready for recovery
	Homozygous fsn mice suffer from hypochromic and normocytic anemia at birth which becomes more severe with age. The anemia makes the homozygous mice distinguishable as pups because of the pale color of ears and eyes. At 2 weeks of age focal epidermal hyperplasia and inflammation is evident with psoriasiform skin lesions becoming confluent and diffuse in 3-4 week old weanlings. The skin lesions progress to generalized alopecia and shedding of thick white scales. The gross lesions are accompanied by thickening and keratinization of the skin. A progressive paplosquamous disease ensues which is a model for some forms of psoriasis. fsn/fsn mice show hematocrit levels and red blood cell counts that are significantly decreased from birth through adulthood. Consequently the heart, liver and spleen become enlarged but the thymus weight is less than half normal. As the spleen enlarges, the mice also develop a potbellied appearance aiding in homozygous fsn identification. G ..... For more information please see the full phenotype on the strain data sheet
008338	CByJ.B6(Cg)-Rag2^tm1Cgn/J	Cryopreserved - Ready for recovery
	Mice homozygous for the RAG-2^fl allele are viable and fertile, with loxP sites flanking exon 3 of the targeted gene. When bred to mice that express Cre recombinase, the resulting offspring will have this region (coding for the entire RAG-2 protein) deleted in the cre-expressing tissue(s). These RAG-2^fl mice may be useful in generating conditional mutations for studying the role of RAG-2 in B and T cell development (including cancer and toxicology research as a xenograft/transplant host), T and B cell receptor (V(D)J) recombination, hematopoiesis, hematology, immunology, and inflammation research. For example, when bred to a strain with inducible Cre recombinase expression in liver and lymphocytes (see Stock No. 003556), this mutant mouse strain may be useful in studies of B and T cell development. In an attempt to offer alleles on well-characterized or multiple genetic background ..... For more information please see the full phenotype on the strain data sheet
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
002208	CFW-Mpv17/J	Cryopreserved - Ready for recovery

006817	D2.129S4(Cg)-Wt1^tm1Jae/EiJ	Cryopreserved - Ready for recovery

002531	DBA/1LacJ-Ap3b1^pe-7J/J	Cryopreserved - Ready for recovery

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
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
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
006125	FVB-Tg(H2-D-Il15)3304Clgr/J	Cryopreserved - Ready for recovery
	Mice hemizygous for this transgene are viable and fertile. The transgene was designed to optimize the overexpression of secreted, mature interleukin-15. Transgenic IL-15 expression has a similar tissue distribution as the endogenous gene, but at a significantly higher level. IL-15 protein is detectable in the serum from most mutant, but not from wildtype, mice. Mutant mice develop a progressive alopecia by as early as 5-6 weeks of age, with skin lesions appearing over time. While all transgenic mice exhibit early polyclonal/benign expansion of natural killer and memory CD8⁺ T lymphocytes (T/NK), two distinct phenotypes emerge over time: approximately 70% of the transgenic mice will exhibit polyclonal T/NK progression in multiple tissues, while the remaining 30% are characterized by T/NK clonal expansion in multiple tissues and acute lymphoblastic leukemia (T/NK ALL). Both T/NK phenotypes are fatal within the first year of life. Mice harboring this transgene may be useful in ..... For more information please see the full phenotype on the strain data sheet
005705	FVB-Tg(KRT14-Vegfa)3Dtm/J	Cryopreserved - Ready for recovery
	Mice hemizygous for the transgene are viable and fertile. Transgene expression is demonstrated in the basal keratinocyte layer of the epidermis and outer root sheath keratinocytes of hair follicles. Homozygous mice spontaneously develop severe psoriasis-like lesions between 3-6 months of age, where hemizygous mice do not. Transgenic mice have increased density of tortuous cutaneous blood capillaries with elevated expression of select VEGF receptors, most prominently in neonates. Dermal mast cell localization and capillary hyperpermeability are also increased. Postcapillary venules exhibit significantly enhanced leukocyte rolling and adhesion. Transgenic expression promotes lymphangiogenesis associated not only with delayed-type hypersensitivity induced psoriasis-like skin inflammation but also with cutaneous tissue repair after wounding. Further, transgenic mice have accelerated chemically induced skin carcinogenesis with tumor associated lymphangiogenesis and angiogenesis. Elevated me ..... For more information please see the full phenotype on the strain data sheet
008878	FVB-Tg(Pbsn-Ar*E231G)7353Ng/J	Cryopreserved - Ready for recovery
	These transgenic mice express a mutant mouse androgen receptor (Ar), E231G, under the control of the minimal -426/+28 rat probasin promoter. The E231G mutant androgen receptor has an N-terminal domain mutation that increases ligand-independent basal activity and responsiveness to coactivators. The transgene expression is detected specifically in the epithelial compartment of the ventral prostate by RT-PCR analysis; the majority of expression is detected in the ventral prostate, with lower expression in the dorsolateral prostate. At 12 weeks of age, hemizygous transgenic male mice develop epithelial hyperplasia and dysplasia in the ventral prostate lobes, that progresses (by approximately 50 weeks of age) to primary prostate tumors with associated lymphocytic invasion and metastatic deposits in lungs. Histological analysis reveals lesions consistent with mouse prostatic intraepithelial neoplasia (PIN). Female mice that are homozygous for the transgene are viable, normal in s ..... For more information please see the full phenotype on the strain data sheet
008874	FVB-Tg(Pbsn-IGF1*)5305Ng/J	Cryopreserved - Ready for recovery
	These transgenic mice express an isoform of the human insulin-like growth factor 1 (somatomedin C) under the control of the minimal -426/+28 rat probasin promoter. The expressed des(1-3) IGF-1 isoform (IGF-1^des) has decreased interaction with IGF binding proteins due to a 3-amino acid deletion in the N terminus of the mature protein. The transgene is detected in the dorsolateral and ventral prostate lobes by RT-PCR analysis. Hemizygous transgenic male mice develop spontaneous atypical prostate hyperplasia, but the lesions do not progress to neoplasia within 1 year. Histological analysis reveals lesions consistent with mouse prostatic intraepithelial neoplasia (PIN) with increased abnormal acini. Female mice that are homozygous for the transgene are viable, normal in size and do not display any gross physical or behavioral abnormalities. This mutant mouse strain may be useful in studies of prostate tumorigenesis. When bred to C57BL/6-Tg(TRAMP)8247Ng/J mice ( ..... For more information please see the full phenotype on the strain data sheet
012563	FVB.129(Cg)-Slc9a3^tm1Ges/J	Cryopreserved - Ready for recovery
	These mice harbor a targeted mutation of the Na⁺/H⁺ exchanger isoform 3 locus (Nhe3 or Slc9a3) that abolishes endogenous gene expression. While no full-length mRNA is detected in kidney or intestine of homozygous mice, a truncated mutant mRNA lacking codons 320-831 (encoding sequences required for Na⁺/H⁺ exchange) is observed but expected to impart no dominant negative effects. When maintained as congenic on the FVB/N genetic background, homozygous mice exhibit a high mortality rate beginning just after weaning, with ~30% surviving to adulthood. Homozygous females are fertile, but homozygous males are infertile. Homozygous (Nhe3-null) mice lack Na⁺/H⁺ exchanger isoform 3 function, and exhibit impaired intestinal absorption; resulting in severe diarrhea, altered salt and water homeostasis, and increased luminal fluid throughout the intestinal tract. Nhe3-null mice have increased PCNA-positive cells in the cryp ..... For more information please see the full phenotype on the strain data sheet
005057	FVB.129-Kcnj2^tm1Swz/J	Cryopreserved - Ready for recovery
	Mice that are homozygous for the targeted mutation have a complete cleft of the secondary palate and die within 12 hours of birth. Heterozygotes are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. No gene product (mRNA or protein) is detected by Northern blot analysis of cardiac tissue or Southern blot analysis. Inwardly rectifying potassium ion currents are absent in cerebral artery myocytes and cardiac ventribular myocytes isolated from homozygote neonates. Elevated external potassium ion concentrations do not dilate isolated neonatal cerebral arteries. Homozygotes exhibit altered electrocardiogram profiles indicative of reduced heart rate and bradycardia. This mutant mouse strain may be useful in studies of potassium ion dependent vasodilation, cardiac arrythmia such as Anderson syndrome, cleft palate and developmental bone malformation.
008315	FVB.129P2(Cg)-Hlx^tm1Rph/J	Cryopreserved - Ready for recovery
	Homozygous null mice have an embryonic lethal phenotype. Homozygous mice on the C57BL/6 and B6;129 mixed background fail to develop past embryonic days 15.5 due to impaired fetal hematopoiesis (anemia, hypoplastic and abnormal development of the liver, hypoplastic gut). Homozygous mice on the FVB/N background survive through embryonic day 18.5 and dead homozygote newborn pups are observed. Late gestation homozygous embryos on the FVB/N background are smaller than wild-type littermates, pale, hydropic (subcutaneous fluid ballooning skin), and have impaired neural crest cell and enteric neuron migration from the stomach to intestine. Mice that are heterozygous for the targeted mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. Naive CD4 T cells from heterozygotes exhibit increased responsiveness to IL-4, resulting in differentiation of more Th2 cells. This mutant mouse strain may be useful in studies of liver and gastrointestin ..... For more information please see the full phenotype on the strain data sheet
002539	FVB.129P2-Abcb4^tm1Bor/J	Cryopreserved - Ready for recovery
	Mice homozygous for the Abcb4^tm1Bor mutation lack the ability to secrete phospholipid into the bile from the liver. They develop a degenerative liver disease. Portal inflammation ensues at an early age followed by hepatocellular carcinoma development after the age of 1 year. Bile from heterozygous mice has half the level of phospholipid when compared to bile from homozygotes. No liver pathology has been shown in heterozygotes.
008660	FVB.129S2(B6)-Hmox2^tm1Poss/J	Cryopreserved - Ready for recovery
	Homozygotes have reduced total heme oxygenase activity in brain and testes, diminished inflammatory pain response and are more susceptible to hyperoxia with attenuated hypoxic ventilatory response. Cultured neurons from homozygotes exhibit increased neurotoxicity and cell death. Neuronal and endothelial cell damage due to transient focal ischemia and glutamate induced cytotoxicity is increased. Olfactory epithelial neurons have decreased proliferation of neuronal precursors and increased apoptosis. Mutant pulmonary venous myocardium is hypertrophic. After hyperoxic exposure, total lung iron content increased 3.5 fold in homozygotes compared to wild-type. Homozygotes have a slower overall gastrointestinal transit time than wild-type. Mice that are homozygous for the targeted mutation are viable, normal in size and do not display any gross physical or behavioral abnormalities. Although homozygous male animals exhibit ejaculatory abnormalities, both male and female homozygotes are fertile ..... For more information please see the full phenotype on the strain data sheet
002900	FVB.129S2(B6)-Rb1^tm1Tyj/J	Cryopreserved - Ready for recovery
	Mice homozygous for this targeted mutation die in utero. Homozygous embryos are morphologically indistinguishable from normal embryos at 12.5 days post coitum, but then die between 13.5 d.p.c and 14.5 d.p.c. Defects are seen in fetal liver hematopoiesis as well as in lens and nervous system development. Heterozygous mice, which are analogous to human carrier individuals, do not develop retinal tumors, but do develop pituitary tumors by 8 months of age. In an attempt to offer alleles on well-characterized or multiple genetic backgrounds, alleles are frequently moved to a genetic background different from that on which an allele was first characterized. This is the case for this strain. It should be noted that the phenotype could vary from that originally described. We will modify the strain description if necessary as published results become available.
002324	FVB.129S2-Serpine1^tm1Mlg/J	Cryopreserved - Ready for recovery
	Mice homozygous for this mutation develop normally and are viable and fertile. Compared to wild type mice, pulmonary clot lysis is increased in the heterozygote and further increased in the homozygote. Endotoxin induced venous thrombosis is decreased compared to wild type mice. Thus, disruption of the Serpine1 gene induces a mild hyperfibrinolytic state. Hemostasis is normal in homozygous mutants.
008665	FVB.129S6-Fmn1^tm2Made/J	Cryopreserved - Ready for recovery
	Mice that are homozygous for the targeted mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. None of the major splice variants of Fmn1 are detected by Northern blot analysis. No gene product (protein) is detected by Western blot analysis of MEFs. Homozygotes display digital oligodactyly phenotype, with absent fibula. 50% of homozygotes (on the FVB background) exhibit unilateral renal aplasia. This mutant mouse strain may be useful in studies of limb development, digital oligodactyly, and kidney development.
005215	FVB.129X1(B6)-Trfr2^tm1Slu/J	Cryopreserved - Ready for recovery
	These Tfr2^Y245X mice have codon 245 of the targeted gene converted to a stop codon; this mutation corresponds to the human truncation mutation Y250X which is the cause of hemochromatosis (HH type 3). Mice that are homozygous for the targeted mutation are viable and fertile. Northern blot analysis of total RNA from liver tissue detects a reduced level of full length gene product (mRNA). PCR analysis of liver tissue detects the C to G point mutation in exon 6. Western blot analysis of hepatic membrane preparations does not detect truncated gene product (protein). By 4 weeks of age, homozygotes display ~5-fold increase in liver iron levels and ~1.5-fold increase in serum transferrin saturations levels over wildtype control. Iron deposition in the liver is hepatocellular and periportal. Mice homozygous for the mutation have decreased iron concentrations in the spleen, indicating reticuloendothelial iron sparing. These Tfr2^Y245X mutant mice may be useful ..... For more information please see the full phenotype on the strain data sheet
006225	FVB.Cg-Tg(SFTPC-rtTA)5Jaw/J	Cryopreserved - Ready for recovery
	Hemizygous transgenic mice are viable, fertile, normal in size, and do not display any gross physical or behavioral abnormalities. The donating investigator reports that homozygous transgenic mice are not viable. These transgenic mice express the reverse tetracycline-controlled transactivator (rtTA) protein under the control of the human SFTPC, surfactant, pulmonary-associated protein C, promoter. rtTA activity is detected in lung peripheral epithelial cells from adult mice and in embryos from pregnant females treated with the tetracycline analog doxycycline (dox). In the latter, rtTA-induced expression of a luciferase reporter under the regulation of a tetracycline-responsive promoter (TRE; tetO) has been detected as early as embryonic day 10.5. When hemizygotes are mated to a second transgenic strain carrying a gene of interest under the regulatory control of a TRE, expression of the target gene in the bitransgenic offspring can be regulated by dox; in the presence of dox, tra ..... For more information please see the full phenotype on the strain data sheet
006222	FVB.Cg-Tg(Scgb1a1-rtTA)1Jaw/J	Cryopreserved - Ready for recovery
	Mice hemizygous for the CCSP-rtTA transgene are viable, fertile, normal in size, and do not display any gross physical or behavioral abnormalities. These transgenic mice express the reverse tetracycline-controlled transactivator (rtTA) protein under the control of the rat Scgb1a1, secretoglobin, family 1A, member 1 (uteroglobin), gene promoter. rtTA activity is detected in bronchial and type II epithelial cells of lung tissue from adult transgenic mice and in embryos from pregnant females treated with the tetracycline analog doxycycline (dox). In the latter, rtTA-induced expression of a luciferase reporter under the regulation of a tetracycline-responsive promoter (TRE; tetO) has been detected as early as embryonic day 12.5. When hemizygotes are mated to a second transgenic strain carrying a gene of interest under the regulatory control of a TRE, expression of the target gene in the bitransgenic offspring can be regulated by dox; in the presence of dox, transcription of the targ ..... For more information please see the full phenotype on the strain data sheet
002535	FVB/N-Tg(ANX6)2Agh/J	Cryopreserved - Ready for recovery
	Mice carrying the human annexin VI transgene display a phenotype similar to congestive heart failure. They show alterations in the contractility and calcium dynamics in cardiomyocytes, and these cells also have reduced basal calcium levels. Mice homozygous for the transgene die by 4 weeks of age while hemizygous mice live to about 1 year of age.
010634	FVB/N-Tg(Acta2-RAC1*G12V)33Pjgc/J	Cryopreserved - Ready for recovery
	Mice that are homozygous for the transgene are viable, fertile and normal in size. Males develop reddish, discolored tail lesions beginning at 8 months of age. Females develop tumors at approximately 18 months. Tumors exhibit many characteristics of Kaposi's sarcoma including an increase in spindle cells without identifiable vascular structures, slits containing red blood cells and hemosiderin between cells, expression of phenotypic markers (such as CD31, CD34, and von Willebrand factor), and an association with male gender. Transgenic mice exhibit moderate hypertension, left ventricular hypertrophy, accelerated wound healing and increased vascular formation in response to wound grafting. This mutant mouse strain may be useful in studies of blood pressure, angiogenesis, wound healing, oxidative stress and Kaposi's sarcoma.
008716	FVB/N-Tg(Myh6-AIP/PLN*)46Jded/J	Cryopreserved - Ready for recovery
	SR-AIP transgenic mice carry the α-MHC-AIP₄-SR transgene. Hemizygous SR-AIP mice are viable and fertile, with expression of AIP₄ (a tetramer of the CaMKII autocamtide inhibitory peptide AIP) directed to the sarcoplasmic reticulum (SR) of the heart by the murine alpha-myosin heavy chain (α-MHC or Myh6) promoter and a truncated phospholamban (PLB) transmembrane domain (harboring two loss-of-function mutations to prevent direct SERCA inhibition by the fusion protein). FLAG epitope expression may be used to identify presence of the fusion protein. The SR-targeted AIP concatemer peptide binds CaMKII, preventing phosphorylation of PLB and subsequent activation of SERCA, thereby increasing diastolic intracellular calcium. Whole heart function and diastolic relaxation are slightly impaired, and pregnancy leads to earlier onset of cardiac hypertrophy. These SR-AIP transgenic mice may be useful in studying sarcoplasmic reticulum-targeted CaMKII inhibitio ..... For more information please see the full phenotype on the strain data sheet
012461	FVB/N-Tg(Myh6-Cast)1Gwd/J	Cryopreserved - Ready for recovery
	Mice hemizygous for the Myh6-Cast allele are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. Expression of Cast is regulated by an α-myosin heavy chain (Myh6) promoter, which results in the overexpression of calpastatain, a highly specific global inhibitor of calpain 1 and calpain 2, in the heart. Overexpression of calpastatin causes diminished ubiquitination of myocardial proteins resulting in a progressive dilated cardiomyopathy characterized by accumulation of intracellular protein aggregates, formation of autophagosomes, and degeneration of sarcomeres. These Myh6-Cast mice may be useful for assessing the consequences of cardiomyocyte-specific calpain inhibition in normal, ischemic, and failing hearts, and the contribution of endogenous calpains to myocardial protein turnover.
006875	FVB/N-Tg(Tagln-rtTA)E1Jwst/J	Cryopreserved - Ready for recovery
	Transgenic SM22-rtTA mice are viable and fertile. These mice express the reverse tetracycline-controlled transactivator (rtTA) protein under the control of the murine SM22-alpha (SM22α or transgelin) promoter. When hemizygotes are mated to a second transgenic strain carrying a gene of interest under the regulatory control of a tetracycline-responsive promoter element (TRE; tetO), expression of the target gene in the bitransgenic offspring is inducible in smooth muscle cells with administration of the tetracycline analog, doxycycline. These SM22-rtTA mice provide a "Tet-On" tool that allows the inducible expression of genes in smooth muscle cells.
003265	FVB;129-Ada^tm1Mw Tg(PLADA)4118Rkmb/J	Cryopreserved - Ready for recovery
	Mice homozygous for the Ada^tm1Mw targeted mutation die perinatally. They show defects in purine metabolism and have liver cell degeneration. Death is most likely the result of accumulation of ADA precursors. Mice from the double mutant strain FVB,129-Ada^tm1Mw Tg(PLADA)4118Rkmb/J (Stock No. 003265) are rescued from embryonic lethality by transgenic ADA expression in the placenta. Rescued mice that are homozygous for the null Ada allele exhibit a severe combined immunodeficiency. In addition, mice develop a severe lung eosinophilia reminescent of that seen in humans with asthma. Abnormalities were also found in the bone and kidney. ADA deficient mice die from severe respiratory distress by three weeks of age. Mice carrying a transgene overexpressiong ADA in both the placenta and forestomach, FVB;129-Ada^tm1Mw Tg(PLFSADA)2465Rkmb/J (Stock No. 003297), are rescued from postna ..... For more information please see the full phenotype on the strain data sheet
003297	FVB;129-Ada^tm1Mw Tg(PLFSADA)2465Rkmb/J	Cryopreserved - Ready for recovery
	Mice homozygous for the Ada^tm1Mw targeted mutation die perinatally. They show defects in purine metabolism and have liver cell degeneration. Death is most likely the result of accumulation of ADA precursors. Mice from the double mutant strain FVB,129- Ada^tm1Mw Tg(PLADA)4118Rkmb/J (Stock No. 003265) are rescued from embryonic lethality by transgenic ADA expression in the placenta. Rescued mice that are homozygous for the null Ada allele exhibit a severe combined immunodeficiency. In addition, mice develop a severe lung eosinopilia reminescent of that seen in humans with asthma. Abnormalities were also found in the bone and kidney. ADA deficient mice die from severe respiratory distress by three weeks of age. Mice carrying a transgene overexpressiong ADA in both the placenta and forestomach, FVB,129- Ada^tm1Mw Tg(PLFSADA)2465Rkmb/J (Stock No. 003297), are rescued from postnatal lethality at three weeks of age. Rescued mice that ..... For more information please see the full phenotype on the strain data sheet
010788	FVB;129S6-Snca^tm1Nbm Tg(SNCAA30P)1Nbm Tg(SNCAA30P)2Nbm/J	Cryopreserved - Ready for recovery
	These double transgenic homozygous mice (dbl-PAC-Tg(SNCA^A30P);Snca^-/- mice) are viable and fertile, harboring a Snca knockout allele and two independently inserted transgenes encoding the human A30P-mutant α-synuclein associated with autosomal dominant Parkinson's disease. As homozygotes, expression of endogenous mouse α-synuclein is abolished and replaced by α-synuclein*A30P from the PAC-Tg(SNCA^A30P). Because PAC-Tg(SNCA^A30P) line 1 inserted on the X chromosome and line 2 inserted on a somatic chromosome, homozygous females have four total insertions and homozygous males have three total insertions. While brain RNA expression of SNCA^A30P is more than 10-fold greater compared to normal endogenous mouse α-synuclein, protein levels are only 1 to 1.5-fold greater. In colon however, both RNA and protein expression of SNCA^A30P are ~80-fold greater than normal endogenous mouse α-synuclein. ..... For more information please see the full phenotype on the strain data sheet
000255	GL/Le Edar^dl-J +/+ Ostm1^gl/J	Cryopreserved - Ready for recovery
	Mice homozygous for the grey-lethal spontaneous mutation (Ostm1^gl) are characterized by osteopetrosis. Homozygous mutant mice are anemic, have a reduced white cell count, early thymic involution, and deficient calcium regulation. Homozygotes lack the power of secondary bone resorption. Consequently, the bones cannot grow normally, they do not form normal marrow cavities, and the teeth do not erupt.
002452	J.129P2(B6)-B2m^tm1Unc/J	Cryopreserved - Ready for recovery
	Mice homozygous for the B2m^tm1Unc targeted mutation have little if any MHC class I protein expression on the cell surface. There are few CD8⁺ cytotoxic T-cells and under some circumstances a compensatory increase in CD4⁺ cytotoxic T-cells. Immune responses involving CD8⁺T-cells are severely deficient providing a model to assess the role of CD8⁺ cells and class I MHC in various experimental systems. Hemachromatosis has been noted in certain genetic backgrounds (Rothenberg BE, Voland JR, Proc Natl Acad Sci USA 93:1529-34, 1996). 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 ..... For more information please see the full phenotype on the strain data sheet
000494	J.Cg-Oca2⁺ Tyr⁺ Lyst^bg/J	Cryopreserved - Ready for recovery
	Mice homozygous for the beige spontaneous mutation (Lyst^bg) 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 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. Syngeneic tumor cells grow better in beige mice than in l ..... For more information please see the full phenotype on the strain data sheet
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
000220	LPT/LeJ	Cryopreserved - Ready for recovery

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).
002453	MRL.129P2(B6)-B2m^tm1Unc/J	Cryopreserved - Ready for recovery
	Mice homozygous for the B2m^tm1Unc targeted mutation have little if any MHC class I protein expression on the cell surface. There are few CD8⁺ cytotoxic T-cells and under some circumstances a compensatory increase in CD4⁺ cytotoxic T-cells. Immune responses involving CD8⁺ T-cells are severely deficient providing a model to assess the role of CD8⁺ cells and class I MHC in various experimental systems. Hemachromatosis has been noted in certain genetic backgrounds (Rothenberg BE, Voland JR, Proc Natl Acad Sci USA 93:1529-34, 1996). 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 ..... For more information please see the full phenotype on the strain data sheet
003234	MRL.129P2(B6)-Fas^tm1Osa/J	Cryopreserved - Ready for recovery
	Mice homozygous for the Tnfrsf6^tm1Osa targeted mutation mice show hyperplasia in the liver in an age-dependent manner. Hepatocytes contain enlarged nuclei characteristic of senescent cells. Lymphadenopathy and splenomegaly in FAS deficient mice are evident at 8 weeks of age. The lymphnodes and spleen become progressively larger, becoming about 10 and 40 times larger than those of wildtype or heterozygotes at 16 weeks of age, respectively.
002455	MRL.Cg-B2m^tm1Unc Fas^lpr	Cryopreserved - Ready for recovery
	Mice homozygous for both the lymphoproliferation spontaneous mutation (Fas^lpr) and the B2m^tm1Unc targeted mutation are viable and fertile. Class I molecule-deficient B2m^tm1Unc mice were backcrossed to MRL/MpJ-Fas^lpr to study the role of MHC class I molecules in the development of systemic autoimmune disease. Double homozygous mutant mice demonstrated a substantial reduction in CD4^-CD8^- T cells and a diminution of autoimmune disease. Specifically, hypergammaglobulinemia; autoantibodies including anti-DNA, anti-Smith antigen, and rheumatoid factor; and glomerulonephritis were significantly reduced compared to MRL/MpJ-Fas^lpr homozygous mice. Moreover, the pattern of hypergammaglobulinemia suggests that the requirement for MHC class I proteins is restricted temporally to later stages of the disease.
000265	MY/HuLeJ	Cryopreserved - Ready for recovery

000300	MYD/Le-Os +/+ Large^myd/J	Cryopreserved - Ready for recovery

005356	NOD.129(B6)-B2m^tm1Unc Ciita^tm1Ccum/BhsJ	Cryopreserved - Ready for recovery
	NOD.129(B6)-B2m^tm1UncC2ta^tm1Ccum/BhsJ is homozygous for linkage markers delineating Idd1-5, 7-10 and 13-15 loci of NOD origin and do not become diabetic. Histology indicates normal islet tissue structure with no cellular infiltration. Islets are intact and produce insulin. FACs analysis of peripheral blood cells of mice homozygote for B2m^tm1Unc and C2ta^tm1Ccum confirmed the absence of MHC I or MHC II cell surface expression, reduced peripheral T-cell populations, deficiency of CD4+ and CD8+ T-cells and there is no difference in B-cell numbers when compared with wild-type controls. Additionally, B2m^tm1Unc,C2ta^tm1Ccum double homozygous animals exhibit lower IgG titers and higher IgM titers than wild-type controls. Diabetic NOD females receiving purified islets from NOD.129(B6)-B2m^tm1UncC2ta^tm1Ccum/BhsJ transplanted under the kidney capsule remain normal ..... For more information please see the full phenotype on the strain data sheet
004083	NOD.129(B6)-Prkdc^scid Idua^tm1Clk/J	Cryopreserved - Ready for recovery
	At birth, mice that are homozygous null for the Idua gene are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. No alpha-L-iduronidase enzyme activity or mRNA is detected. By three weeks of age, homozygous null mice develop a flattened facial profile and a thickening of digits. Defective bone formation is noticeable by fifteen weeks, characterized by a broadening and thickening of long bones. Evidence of lysosomal storage disorder is apparent in cells of the reticuloendothelial system at four weeks. By eight weeks progressive evidence of lysosomal storage is seen in Kupffer cells, splenic sinusoidal lining cells, chondrocytes, glial and Purkinje cells. This animal model is suitable for use in studies investigating the lysosomal storage disorder mucopolysaccharidosis type I (MPS I).
004673	NOD.129(B6)-Rag1^tm1Mom Cd80^tm1Shr/JbsJ	Cryopreserved - Ready for recovery
	The NOD.129(B6)Rag1^tm1MomCd80^tm1Shr/JbsJ homozygous mice fail to produce T or B cells. Mice homozygous for both Rag1^tm1Mom and Cd80^tm1Shr are viable and fertile and exhibit no signs of diabetes due to the absence of lymphocytes. On the NOD background Cd80^tm1Shr alone exacerbates diabetes onset when compared to standard NOD controls. When injected with proteolipid protein in Complete Freund's Adjuvant, NOD mice homozygous for the Cd80^tm1Shr/JbsJ mutation alone develop similar though slightly milder, experimental autoimmune encephalomyelitis (EAE) when compared with NOD controls. NOD.129(B6)-Rag1^tm1MomCd80^tm1Shr/JbsJ are valuable for unraveling the co-stimulatory pathways of T cell activation as it relates to autoimmune diseases and organ transplantation.
005878	NOD.129(Cg)-Cd44^tm1Hbg/J	Cryopreserved - Ready for recovery
	Mice that are homozygous for the targeted mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. No gene product (mRNA or protein) is detected. Although lymphocyte development appears unremarkable, irregularities are observed in lymphocyte trafficking. Tail-injected lymphocytes derived from null animals exhibit an impaired ability to traffic to peripheral lymph nodes, and to a much greater degree, the thymus. Transcription and translation of the targeted allele subsequently lead to the synthesis of the lacZ protein under control of the 5' regulatory elements of the endogenous locus in all cells and tissues normally expressing one or several of the CD44 isoforms. In an attempt to offer alleles on well-characterized or multiple genetic backgrounds, alleles are frequently moved to a genetic background different from that on which an allele was first characterized. It should be noted that the phenotype could vary f ..... For more information please see the full phenotype on the strain data sheet
006611	NOD.129P2(B6)-B2m^tm1Unc Tg(HLA-A/H2-D/B2M)1Dvs/DvsJ	Cryopreserved - Ready for recovery
	NOD mice carrying only the HLA-A/H2-D/B2M transgene, commonly referred to as NOD.HHD, (Stock No. 006604) develop significantly accelerated diabetes onset compared to NOD/ShiLtDvs (NOD) inbred mice. This mutant stock is also homozygous for the B2m^tm1Unc mutation which normally prevents the development of of CD8⁺ T cells. The presence of the transgene in the B2m-deficient background, however, restores CD8⁺ T cells, but at a significantly lower level than in NOD inbred mice. Due to the covalently linked nature of the B2M component encoded into the transgene, the transgenic construct is unable to rescue murine MHC class 1 molecules in the NOD.B2m deficient (Stock No. 002309) mice. Thus, these double mutant mice only express human HLA-A2.1. Fifty-five percent of these NOD transgenic B2m-deficient mice develop diabetes b ..... For more information please see the full phenotype on the strain data sheet
010565	NOD.129P2(B6)-B2m^tm1Unc Tg(HLA-A24/H2-D/B2M)3Dvs/J	Cryopreserved - Ready for recovery
	NOD mice carrying only the HLA-A24/H2-D/B2M transgene and homozygous for the B2m^tm1Unc mutation, commonly referred to as NOD.B2mnull. A24/HHD, are viable, normal in size, do not display any gross physical or behavioral abnormalities and are reported to be poor breeders. The presence of the transgene in the B2m deficient background restores CD8+ T cells, but at a significantly lower level than in NOD inbred mice. Due to the covalently linked nature of the B2m component incorporated into the transgene, the transgenic construct is unable to rescue expression of murine MHC class I molecules in the NOD. B2m deficient (Stock No. 003914) mice. FACS analysis confirms the NOD. B2m null. A24/HHD mice express human HLA-24, but no murine MHC class I molecules. NOD.B2m null, A24/HHD mice develop insulitis, but progression to overt diabetes is reported to be rare. This model provides humanized HLA-24 restricted T cells that will be useful tools ..... For more information please see the full phenotype on the strain data sheet
002309	NOD.129P2(B6)-B2m^tm1Unc/J	Cryopreserved - Ready for recovery
	Mice homozygous for the B2m^tm1Unc targeted mutation have little if any MHC class I protein expression on the cell surface. There are few CD8⁺ cytotoxic T-cells and under some circumstances a compensatory increase in CD4⁺ cytotoxic T-cells. Immune responses involving CD8⁺ T-cells are severely deficient providing a model to assess the role of CD8⁺ cells and class I MHC in various experimental systems. Other traits of B2M deficient mice include: NK cell deficiency, NK1⁺ T cells deficiency and decreased levels of serum Ig. Some forms of lupus autoimmunity are severely reduced. (Christianson, J Immunol 156:4932-9, 1996). Hemachromatosis has been noted in certain genetic backgrounds (Rothenberg BE, Voland JR, Proc Natl Acad Sci USA 93:1529-34, 1996). The B2m^tm1Un mutation backcrossed to the NOD/Lt strain serves as a MHC class I-negative, CD8⁺ deficient diabetes resistant stock ..... For more information please see the full phenotype on the strain data sheet
004222	NOD.129P2(B6)-Il4^tm1Cgn/DvsJ	Cryopreserved - Ready for recovery
	Complete Freund's adjuvant (CFA) induced suppression of diabetes in NOD mice has been associated with a shift to Th2 cytokine production. NOD mice deficient in IL4 were created to investigate the role of IL4 in this shift. Mice homozygous for the Il4^tm1Cgn targeted mutation are viable and fertile. T and B cell development is normal but IgG1and IgE levels and the ability of homozygous mutant mice to produce Th2-derived cytokines are significantly reduced. IL4 deficient NOD mice develop IDDM with the same incidence as standard NOD/Lt controls, and there is no change between IL4 deficient and wildtype NOD in disease protection conferred by treatment of bacillus Calmette-Guerin vaccine (BCG) or CFA. Both IL4 deficient and wildtype NOD mice are significantly protected from insulitis by treatment of CFA but not by treatment of BCG. (Serreze et al 2001)
003860	NOD.129P2(B6)-Sell^tm1Tft/1LtJ	Cryopreserved - Ready for recovery

004448	NOD.129S2(B6)-Ciita^tm1Ccum/FlvJ	Cryopreserved - Ready for recovery
	In humans, a non-functional C2ta (or Ciita) gene causes bare lymphocyte syndrome (BLS), which is characterized by the lack of HLA class II gene expression and a reduced number of mature CD4+ T cells in the periphery. On the C57BL/6 congenic background (see Stock No. 003239) disruption of C2ta results in a lack of MHC Class II expression by splenic B cells, dendridic cells, and both resting and interferon gamma stimulated macrophages. However, thymic epithelium retains MHC class II expression. Homozygotes also exhibit a significant decrease in the levels of invariant chain and H-2M gene transcripts. Non-conventional MHC Class II molecules such as H-2O alpha and H-2O beta, are not affected by the disruption of C2ta. Despite the continued expression of MHC Class II molecules on cells of the thymic epithilium, few CD4 positive cells exist in the periphery of homozygotes. (Chang et al 1996) Because of ..... For more information please see the full phenotype on the strain data sheet
006351	NOD.129S4(B6)-Icam1^tm1Jcgr/J	Cryopreserved - Ready for recovery
	Homozygous mutant mice are diabetes resistant. No membrane bound ICAM-1 is detectable in homozygous mutant mice. Histological examination shows no or only mild peri-insular infiltration at 330-410 days of age, By comparison, 64% of their wild-type and 44% of their heterozygote cohorts become diabetic by 310 days of age. In contrast to wild-type, 110-day-old ICAM-1 deficient females do not develop severe insulitis 10 days post cyclophosphamide treatment. Protection is associated with suppression of destructive insulitis as well as a deviation to a T-helper 2 cytokine mRNA expression pattern (Martin et al 2001). Both the C57BL/6 contaminated strain, Stock No. 005983 - NOD.129S4(B6)-Icam1^tm1Jcgr/SmtnJ, and this non contaminated strain are completly diabetes resistant at 30 weeks of age when evaluated in a comparative diabetes incidence study. Fine mapping data may be viewed at For more information please see the full phenotype on the strain data sheet
005983	NOD.129S4(B6)-Icam1^tm1Jcgr/SmtnJ	Cryopreserved - Ready for recovery
	No membrane bound ICAM-1 is detectable in NOD.129S4(B6)-Icam1^tm1Jcgr/SmtnJ homozygous mice. NOD mice homozygous for the Icam1^tm1Jcgr mutation are diabetes resistant. Histological exam shows no or mild peri-insular infiltration at 330-410 days of age, while 64% of their wild-type cohorts and 44% of the heterozygote animals become diabetic by 310 days of age. In contrast to wild-type, 110-day-old ICAM-1 deficient females do not develop severe insulitis 10 days post cyclophosphamide treatment. Protection is associated with suppression of destructive insulitis as well as a deviation to a T-helper 2 cytokine mRNA expression pattern (Martin et al. 2001). Both the C57BL/6 contaminated strain and the non contaminated strain, Stock No. 006351 - NOD.129S4(B6)-Icam1^tm1Jcgr/J are completely diabetes resistant at 30 weeks of age when evaluated in a comparative diabetes incidence study. Fine mapping data may be viewed at For more information please see the full phenotype on the strain data sheet
004762	NOD.129S4-Cd86^tm1Shr/JbsJ	Cryopreserved - Ready for recovery
	The NOD.129S4-Cd86^tm1Shr/JbsJ homozygous mice fail to produce functional protein in T cells. Mice carrying this allele are protected from diabetes. Some homozygote mice have delayed onset peri-insulitis, which does not progress to severe insulitis. Beginning at 20 weeks of age, homozygous mice begin developing spontaneous autoimmune peripheral polyneuropathy marked by symmetrical mild hind limb paralysis. By 32 weeks of age 100% female and 30% males are severely affected with hind limb paralysis and moderate foreleg paralysis. Histological evaluation shows severe inflammation and mononuclear infiltrates in the peripheral nervous system. Skeletal muscle of severely affected mice showed focal neurogenic atrophy, but no cellular infitration. No detectable lesions were found in the brain or spinal cord. This phenotype has not been observed on C57BL/6 or 129 backgrounds (Salomon et al, 2001). NOD.129S4- Cd86^tm1Shr /JbsJ provides a useful model for studyin ..... For more information please see the full phenotype on the strain data sheet
002571	NOD.Cg Prkdc^scid-B2m^b/Dvs	Cryopreserved - Ready for recovery

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
003355	NOD.Cg-B2m^tm1Unc Tg(B2M)55Hpl/Dvs	Cryopreserved - Ready for recovery

008542	NOD.Cg-B2m^tm1Unc Tg(GFAP-B2m)9Mdos/J	Cryopreserved - Ready for recovery
	Mice carrying the GFAP-B2m transgene and homozygous for the B2m^tm1Unc allele, commonly referred to as GFAP-B2m, are viable, fertile and diabetes resistant. Western blot analysis and histological analysis of brain and pancreas confirmed transgene expression in the astrocytes and peri-islet Schwann cells. FACs analysis indicates the absence of CD8+ T cells in the spleens of both NOD.GFAP-B2m and NOD.B2m deficient mice. Similar to the NOD.B2m deficient mice, NOD.GFAP-B2m mice do not develop spontaneous diabetes by forty weeks of age. In adoptive transfer experiments NOD.GFAP-B2m mice receiving splenocytes from diabetic NOD females develop diabetes at a significantly faster rate and higher incidence than non-transgenic littermates. No diabetes occurred in NOD.GFAP-B2m mice receiving splenocytes from AI4 TCR transgenic mice. This strain is useful for studying the role of GFAP in autoimmunity and the development of immunotherapies.
004548	NOD.Cg-B2m^tm1Unc Tg(B2M)55Hpl Tg(HLA-A2.1)1Enge/DvsJ	Cryopreserved - Ready for recovery

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.
006023	NOD.Cg-H2-Ab1^tm1Gru Tg(CD4,HLA-DQA1,HLA-DQB1)N8Ell/EllJ	Cryopreserved - Ready for recovery
	This NOD congenic strain contains a targeted H2-Ab1 mutation also carries two transgenes: one expressing human CD4 under the regulation of the mouse Cd4 enhancer and a second expressing human HLA-DQ6. The latter transgene confers dominant protection to development of Type 1 diabetes in humans. These double transgenic, H2-Ab1-deficient mice are viable, fertile, normal in size, and free of both autoimmune diabetes and cardiomyopathy, a phenotype found in an NOD stock expressing an HLA-DQ8 transgene (Elliot JF et al. Proc Natl Acad Sci U S A 2003; 100:13447-52). By 55 weeks of age, 100% of the H2-Ab1-deficient, DQ6 transgenic mice develop thyroiditis and thyroid autoantibodies. Of these, 25% develop thyroid gland enlargement and goiter, and a subset of these animals develops thyroid failure with elevated serum TSH levels. This model is useful for studying autoimmune thyroid disease and to understand the role of MHC class II in au ..... For more information please see the full phenotype on the strain data sheet
005346	NOD.Cg-Il10^tm1Cgn Casp1^tm1Sesh/LtJ	Cryopreserved - Ready for recovery
	Mice homozygous for the Il10 and Casp1 targeted mutations are viable and fertile when housed under SPF conditions. NOD/Lt mice deficient for both of these genes develop type 1 diabetes at a rate equivalent to the parental strains. The Il10 targeted mutation also renders this NOD/Lt stock susceptible to colitis (although not as severe as other strains of Il10 deficient mice) when maintained under standard housing conditions.
004266	NOD.Cg-Il10^tm1Cgn/DvsJ	Cryopreserved - Ready for recovery
	Mice homozygous for the Il10^tm1Cgn targeted mutation are viable and fertile when housed under SPF conditions. This mutant develops type 1 diabetes at the same rate as the NOD/Lt parental strain. The Il10 ^tm1Cgn mutation also renders this NOD/Lt stock susceptible to colitis (although not as severe as other strains of Il10 deficient mice) when maintained under standard housing conditions.
004262	NOD.Cg-Prkdc^scid Tg(HLA-A2.1)1Enge/Dvs	Cryopreserved - Ready for recovery

012478	NOD.Cg-Prkdc^scid Tg(HLA-DRA0101,HLA-DRB10101)1Dmz/GckJ	Cryopreserved - Ready for recovery
	Mice that are homozygous for the targeted mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. 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.
004346	NOD.Cg-Prkdc^scid Tg(Ins2-CD80)3B7Flv/DvsJ	Cryopreserved - Ready for recovery
	These mice are characterized by pancreatic beta cells that express a rat insulin promoter (Rip) regulated transgene encoding the human CD80 T cell co-stimulatory molecule. They are an excellent source of MHC class I positive, CD80 transgene-expressing islet cells, a potent antigenic reagent for propagating diabetogenic CD8+ T lymphocytes derived from NOD mice in vitro. The presence of the Prkdc^scid allele eliminates the possibility that isolated islet cells will introduce contaminating T lymphocytes onto cultures.
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.
002570	NOD.Cg-Prkdc^scid B2m^tm1Unc/J	Cryopreserved - Ready for recovery
	Mice homozygous for both the B2m^tm1Unc and Prkdc^scid (commonly referred to as scid) mutations on the NOD/ShiLtSz background are class I deficient, B and T cell deficient, C-5 deficient (Hc⁰), and have low NK cells. This strain is an ideal model for xenograft transplantation studies and is an excellent source for insulitis-free, MHC class I-negative islets for transplantation 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
004347	NOD.Cg-Rag1^tm1Mom Tg(TcraAI4)1Dvs/DvsJ	Cryopreserved - Ready for recovery
	The rearranged Tcra transgene expressed in these mice is derived from the pancreatic beta cell-reactive CD8 T lymphocyte clone AI4. The presence of the nonfunctional Rag1^tm1Mom allele renders mice incapable of rearranging endogenous T cell receptor genes. When crossed with strain NOD.Cg-Tg(TcrbAI4)1DvsRag1^tm1Mom/DvsJ (004348), the resulting animals that carry both the alpha and beta AI4 TCR transgenes exhibit an accelerated development of insulin-dependent diabetes mellitus (IDDM). Additionally, transgenic animals bearing both TCR transgenes offer a source of CTL precursors useful in examining the diversity of beta cell peptides recognized by the autoreactive CD8+ T lymphocytes contributing to the earliest phase of IDDM development. Homozygous mice are viable and fertile.
006024	NOD.Cg-Rag1^tm1Mom H2-Ab1^tm1Gru Tg(CD4,HLA-DQA1,HLA-DQB1)N8Ell/EllJ	Cryopreserved - Ready for recovery
	Rag1 and H2-Ab1 deficient NOD mice carrying transgenes encoding humanized CD4 and HLA-DQ6 lack T and B cells and are free of autoimmune diabetes and cardiomyopathy, and do not develop thyroiditis. This model is useful in adoptive transfer experiments and in studying MHC class II-based resistance and susceptibility in autoimmunity.
006022	NOD.Cg-Rag1^tm1Mom H2-Ab1^tm1Gru Tg(CD2-CD4,HLA-DQA1,HLA-DQB1)1Ell/EllJ	Cryopreserved - Ready for recovery
	Rag1 and H2-Ab1 deficient NOD mice carrying transgenes coding for human CD2-CD4 and HLA-DQ8 lack T and B cells, and are diabetes free. Also, unlike the H2-Ab1 deficient, transgenic CD4, HLA-DQ8 mice (see Stock No. 006021), this strain does not develop cardiomyopathy. This model is useful in adoptive transfer experiments and to understand the role of MHC class II in autoimmunity.
006956	NOD.Cg-Vdr^tm1Ska/CmatJ	Cryopreserved - Ready for recovery
	Heterozygous mice are viable, fertile, and phenotypically indistinguishable from wildtype siblings. Homozygous mutant mice are viable but infertile. No VDR mRNA is detected by RT-PCR in samples from the intestine or kidney or from homozygous mutant embryo. Increased expression of CTP27B1 and reduced expression of CYP24A1 and calbindin-D9k is detected by RT-PCR in samples from VDR-deficient kidneys. Although mice homozygous for this targeted mutation are viable, shortly after weaning they exhibit dysmorphic features including a flat face and short nose, alopecia, growth retardation, and skeletal defects including hypocalcaemia, decreased bone mineral density, widened growth plates with hypomineralization, less trabeculae and thicker osteo seams. Homozygous mutant mice exhibit metabolic imbalances including abnormally high and low levels of 1,25(OH),2D3 and 25(OH)D3, respectively and abnormal cytokine and chemokine profiles. Homozygous mice exhibit normal pancreatic islet archite ..... For more information please see the full phenotype on the strain data sheet
002380	NOD.Cg-Tg(Ins2-TAg)1Lt Prkdc^scid/DvsJ	Cryopreserved - Ready for recovery
	Homozygous NOD/Lt-TgN(RipTag)1Lt-Prkdc^scid mice develop pancreatic beta cell adenomas. They are able to produce 2-3 litters before the insulin secreted from the adenoma makes them too hypoglycemic. Because Prkdc^scid mice lack T-cells the adenomas from this strain are free of the autoimmune T-cells found in the adenomas of NOD/Lt-TgN(RipTag)1Lt mice.
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
002503	ROP/Le-Os Ces1c^a/+ Ces1c^a/J	Cryopreserved - Ready for recovery
	This strain originally was maintained segregating for Os and Ces1c, which are approximately 3 cM apart on Chr 8, such that Os and Ces1c^b occurred in coupling opposite the wild-type Os allele and Ces1c^a. In October 2002, it was discovered that a recombination event between Os and Ces1c had resulted in the strain's becoming fixed for Ces1c^a.
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.
002493	STOCK Ada^tm1Mw/J	Cryopreserved - Ready for recovery
	Mice homozygous for the Ada^tm1Mw targeted mutation die perinatally. They show defects in purine metabolism and have liver cell degeneration. Death is most likely the result of accumulation of ADA precursors. Mice from the double mutant strain FVB;129- Ada^tm1Mw-TgN(PLADA)4118Rkmb/J (Stock No. 003265) are rescued from embryonic lethality by transgenic ADA expression in the placenta. Rescued mice that are homozygous for the null Ada allele exhibit a severe combined immunodeficiency. In addition, mice develop a severe lung eosinopilia reminescent of that seen in humans with asthma. Abnormalities were also found in the bone and kidney. ADA deficient mice die from severe respiratory distress by three weeks of age. Mice carrying a transgene overexpressiong ADA in both the placenta and forestomach, FVB;129- Ada^tm1Mw-TgN(PLFSADA)2465Rkmb/J (Stock No. For more information please see the full phenotype on the strain data sheet
003899	STOCK Cd44^tm1Hbg/J	Cryopreserved - Ready for recovery
	Mice that are homozygous for the targeted mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. No gene product (mRNA or protein) is detected. Although lymphocyte development appears unremarkable, irregularities are observed in lymphocyte trafficking. Tail-injected lymphocytes derived from null animals exhibit an impaired ability to traffic to peripheral lymph nodes, and to a much greater degree, the thymus. Transcription and translation of the targeted allele subsequently lead to the synthesis of the lacZ protein under control of the 5' regulatory elements of the endogenous locus in all cells and tissues normally expressing one or several of the CD44 isoforms.
003179	STOCK Cdh2^tm1Hyn/J	Cryopreserved - Ready for recovery
	Mice that are heterozygous for the mutant allele are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. However, homozygous mice have an embryonic lethal phenotype, and die by embryonic day 10. The somites of the mutant embryos are small, irregularly shaped, and less cohesive compared with those of their wild-type littermates, and the epithelial organization of the somites is partially disrupted. Undulation of the neural tube is also observed in the mutant embryos. The mesodermal and endodermal cell layers of the yolk sac are separated in the mutants. The most dramatic cell adhesion defect is observed in the primitive heart; although myocardial tissue forms initially, the myocytes subsequently dissociate and the heart tube fails to develop normally.
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
010538	STOCK Creb3l3^tm1.1Sad/J	Cryopreserved - Ready for recovery
	Mice that are homozygous for the targeted mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. In response to endoplasmic reticulum (ER) stress induced by tunicamycin, homozygous mice exhibit a reduced expression of the acute phase response proteins C-reactive protein, serum amyloid P-component and serum amyloid A3. This mutant mouse strain may be useful in studies of the systemic inflammatory response to ER stress.
007863	STOCK Dnahc5^hlb612/JClo	Cryopreserved - Ready for recovery
	The ENU generated hlb612 allele contains an in-frame deletion in a dynein gene (Dnahc5) commonly associated with human primary ciliary dyskinesia (PCD). Thirty-six percent of homozygotes exhibit situs inversus totalis and hydrocephaly and die between 2-4 weeks of age. Forty percent of homozygotes die before or shortly after birth and exhibit heterotaxy with structural heart defects and cardiovascular anomalies including discordant atrioventricular and ventricular outflow situs, atrial/pulmonary isomerisms, artery alignment defects, interrupted inferior vena cava and dextrocardia. Electronmicroscopy reveals that the outer dynein arms of the respiratory cilia are greatly reduced in number. Respiratory cilia exhibit a wide variation in orientation. Cilia in the airway epithelia are immotile or slow and dsykinetic. Heterozygous mice do not have situs defects, however, respiratory cilia exhibit some reduction in the number of outer dynein arms. This strain may be use ..... For more information please see the full phenotype on the strain data sheet
002857	STOCK Egfr^tm1Mag/J	Cryopreserved - Ready for recovery
	Mice homozygous for the Egfr^tm1Mag targeted mutation are recognizable at 2 to 3 days by curly whiskers. The first coat is waved but later coats are not; vibrissae usually remain curled and the guard hairs curved. Fertile mutant females have impaired lactation.
007674	STOCK Esrrb^tm1.1Nat/J	Cryopreserved - Ready for recovery
	Mice homozygous for this Nr3b2^CKO allele possess loxP sites flanking exon 2 of the targeted gene and are viable and fertile. When these mutant mice are bred to mice that express Cre recombinase, resulting offspring will have the exon containing the initiator methionine codon and encoding the N-terminal 132 amino acids (including part of the DNA-binding domain) deleted in the cre-expressing tissue(s). Of note, if the conditional Nr3b2^CKO is deleted by Cre recombinase in the placenta and embryo, embryonic lethality will result (placental defect). If the conditional Nr3b2^CKO is deleted by Cre recombinase only in the embryo, the resulting mice exhibit an inner ear defect (decreased endolymph production) resulting in deafness and defective balance. These Nr3b2^CKO mutant mice may be useful in generating conditional mutations to study disorders of hearing and balance, inner ear development (such as endolymph-producing epithelia withi ..... For more information please see the full phenotype on the strain data sheet
004655	STOCK Gata1^tm2Sho/J	Cryopreserved - Ready for recovery
	Mice that are homozygous for the targeted mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. Reduced levels of gene product (mRNA) is detected by RT-PCR analysis. Mutant mice are thrombocytopenic and anemic at birth. Adult mutant mice have enlarged spleens and exhibit thrombocytopenia due to arrested megakaryocyte maturation which results in increased megakaryocytes in spleen and bone marrow. Platelet number in adult mutant mice is only 10% of wildtype. Erythroblast and mast cell differentiation is defective as indicated by increased apoptotic rates and accumulation of progenitors. Mutant mice display an enhanced response and recovery to experimentally induced acute and chronic erythropoiesis stimulation. At 15 months of age, homozygous female and heterozygous male mutant mice begin to develop idiopathic myelofibrosis-like symptoms including: anemia, tear-drop poikilocytes, progenitor cells in the blood, collagen fibers and o ..... For more information please see the full phenotype on the strain data sheet
013124	STOCK Gt(ROSA)26Sor^tm3(Gli3)Amc/J	Cryopreserved - Ready for recovery
	These RosaGli3TFlag c/c mice contain a floxed-neomycin resistance (neo) cassette and polyadenylation signal, cDNA encoding a FLAG-tagged GLI-Kruppel family member (Gli3) repressor gene, an internal ribosome entry site (IRES), and a Venus yellow fluorescent protein (YFP) under control of the ubiquitous Gt(ROSA)26Sor locus. Breeding these mutant mice to mice that express Cre-recombinase will also result in Floxed-neo-stop excision. When these mice are crossed to mice containing Cre-recombinase under direction of a paired related homeobox 1 (Prrx1) promoter (see Stock No. 005584), active in early limb mesenchyme, the mice produce Gli3TFlag at levels that are comparable with the endogenous protein. Mice exhibited a variety of limb defects including a variable preaxial forelimb polydactyly, limb truncation, and reduced mineralization. These mice may be useful for understanding Sonic hedgehog signaling and iden ..... For more information please see the full phenotype on the strain data sheet
001743	STOCK Gtg1^dwg/J	Cryopreserved - Ready for recovery
	Mice homozgyous for the dwarf grey spontaneous mutation (Gtg1^dwg) are viable but do not breed. Homozygous mutant mice have grey coats, are smaller than littermates, and develop cataracts by 3-4 weeks of age. Additional characteristics include increased numbers of osteoclasts, reduced bone mass, reduced red pulp area of the spleen, and slightly reduced thyroxin levels.
006241	STOCK Hhip^tm1Amc/J	Cryopreserved - Ready for recovery
	Mice heterozygous for this targeted mutation are viable and fertile. Homozygotes die from respiratory failure shortly after birth. Expression of the "knocked-in" lacZ gene is detected in a pattern similar to the endogenous transcript (in lung, skeleton, stomach, duodenum, spleen, and pancreas), and serves as a faithful reporter for Hedgehog (Hh) signaling. Because Hh and fibroblast growth factor (Fgf) signaling are abnormal, homozygous mice have defects in many Hh target tissues. Although the primary lung buds form in homozygotes, lung branching morphogenesis is defect beginning at 10.5 days postcoitus (dpc), and fails to generate a complete respiratory tree. The single left lobe also is significantly reduced, and total lung size at birth is diminished 67-75% compared to wildtype. In addition, homozygous mice have delayed mineralization of the endochondral skeleton, as well as impaired pancreas morphogenesis, islet formation and endocrine cell proliferation. These mutant mice ma ..... For more information please see the full phenotype on the strain data sheet
003534	STOCK Inpp5d^tm1Dmt/J	Cryopreserved - Ready for recovery
	Inpp5d (commonly called SHIP) -deficient mice are viable and fertile. However, fertility rate is 10% lower in homozygotes and lifespan is shortened in comparison to controls. Inpp5d -deficient mice exhibit dramatic chronic hyperplasia of myeloid cells resulting in splenomegaly, lymphadenopathy and myeloid infiltration of vital organs. Histological and flow studies demonstrate a substantial increase in granulocyte-macrophage/monocyte populations in bone marrow, spleen and lymph nodes. Spleens and lymph nodes are severely enlarged compared to wildtype. The difference in spleen size is apparent as early as 4 weeks of age, and by 16 weeks of age, spleens from null mice are 10 fold greater than those of wildtype mice. Neutrophils and bone marrow-derived mast cells from these mice appear to be less susceptible to apoptotic stimuli.
007029	STOCK Krt18^tm1Tmm/J	Cryopreserved - Ready for recovery
	Mice homozygous for this targeted mutation are viable and fertile and do not display any gross physical or behavioral abnormalities. Hepatocytes are completely devoid of keratin filaments, but desmosomes are formed and maintained. At 18 months of age, mice consistently show a distinctive liver pathology with abnormal hepatocytes containing K8 (KRT8)-positive aggregates (Mallory bodies). No KRT18 protein is produced from the targeted gene, as determined by Western blot of liver tissue. This mutant mouse strain may be useful in studies pertaining to keratin 18 (Krt18) and its partner keratin 8 (Krt8) function in glandular tissues such as liver and pancreas.
002906	STOCK Mecom^tm1Mmor/J	Cryopreserved - Ready for recovery
	Heterozygous (Evi1+/-) mutant embryos die at E10.5 due to widespread hypocellularity, hemorrhaging, and disruption in the development of paraxial mesenchyme. In addition, defects in the heart, somites, and cranial ganglia were detected and the peripheral nervous system fails to develop.
010979	STOCK Mfng^tm1Seco/J	Cryopreserved - Ready for recovery
	These Mfng^-/- mutant mice have 898 nt surrounding the first Manic fringe (Mfng) coding exon replaced with a floxed PGK neo cassette, abolishing gene function. Mice that are homozygous for this allele are viable, fertile, with normal pancreatic development, morphology and physiology. There is no phenotypic difference observed between mutant mice and their wildtype littermates, suggesting a compensatory pathway may be operational in the embryonic development of this strain. These mice may be useful for studying embryonic development, and skeletal, limb, and hindbrain functions.
001253	STOCK Mitf^Mi-wh +/+ Wnt7a^px/J	Cryopreserved - Ready for recovery
	Mutations at the Mitf locus affect eye size, pigmentation, and the capacity for secondary bone resorption. MIce homozygous for the white allele (Mitf^Mi-wh) display an overall absence of pigment cells with the exception of the retina which expresses a few giving the eye a small amount of pigment. Homozygotes show slight microphthalmia but a normal skeleton. Heterozygotes (Mitf^Mi-wh/+) have a diluted coat color, light ears, a white belly spot, and in rare cases a dorsal spot. In addition, they display abnormalitites of both the cochlear and vestibular portions of the inner ear. Mice homozygous for the postaxial hemimelia spontaneous mutation (Wnt7a^px) have skeletal defects of the forelimbs. Digits 5, 4, and sometimes 3, are missing and there is a reduction or absence of the ulna. There is always a large oval foramen in the scapula. The hindlimbs are usually unaffected, but digit 5 may be absent, and occasionally the fibula is r ..... For more information please see the full phenotype on the strain data sheet
006578	STOCK Myoz2^tm1Eno/J	Cryopreserved - Ready for recovery
	Mice homozygous for this calsarcin-1 mutant allele are viable and fertile. Immunoblot of homozygous cardiac tissue shows no endogenous protein expression. Strong lacZ expression throughout all cardiac chambers mirrors the expression pattern of the endogenous gene, and marked skeletal muscles known to contain a high proportion of type I (slow) fibers. Homozygotes have skeletal muscle abnormalities in type I (slow) fibers and calcineurin activity. Echocardiography of homozygous mice reveals abnormal heart performance. Absence of gene function activates a cardiac hypertrophic fetal gene program (despite the absence of hypertrophy) and enhanced the cardiac growth response to pressure overload. These mutant mice may be useful in studying growth and gene expression of cardiac and skeletal muscle, as well as the pathogenesis of human cardiomyopathies. In an attempt to offer alleles on well-characterized or multiple genetic backgrounds, alleles are frequently moved to a genetic bac ..... For more information please see the full phenotype on the strain data sheet
005692	STOCK Nphs1^tm1Rkl/J	Cryopreserved - Ready for recovery
	Mice that are heterozygous for the Nephrin KO/GFP knock-in mutation are viable and fertile. Homozygous mice die within a few days after birth with massive glomerular vascular leak and an absence of glomerular epithelial slit diaphragms. No gene product is detected by Western blot of kidney tissue of homozygotes. Green fluorescent protein (GFP) is detected in glomeruli of homozygotes and heterozygotes. Newborn homozygotes show extensive proteinuria, while heterozygotes show none. These Nephrin KO/GFP knock-in mice may be useful in studying nephrotic syndrome or any of the diseases where plasma ultrafiltration is affected.
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
005707	STOCK Rag1^tm1Mom Tg(TIE2-lacZ)182Sato/J	Cryopreserved - Ready for recovery
	Mice homozygous for both the targeted mutation and the transgene are viable and fertile. The transgene beta-galactosidase is well expressed, reflects endogenous Tek/Tie2 activity, and is specific to the vascular endothelium. Mice homozygous for the Rag1 mutation are immunodeficient as they lack mature B and T lymphocytes. This double mutant mouse may be useful in studies of cancer, tumor-related angiogenesis, and as a recipient of xenografted tumors.
006083	STOCK Sfpi1^tm1.3Dgt/J	Cryopreserved - Ready for recovery
	Mice homozygous for this targeted deletion are viable and fertile as young animals. Mice on this stock (predominantly 129Sv) background often die between 3-8 months of age of a rapidly developing T cell lymphoma (64% penetrance) or between 6-12 months of acute myeloid lymphoma (AML) (29% penetrance). Homozygotes (termed PU.1 knockdown or UREdelta) have an 80% reduction of endogneous gene expression. This is associated with an accumulation of hematopoietic stem cell precursor cells and neutrophils in bone marrow and spleen. Bone marrow cells from homozygous mice have abnormal responses to myeloid cytokines, and malignant transformation is associated with clonal chromosomal abnormalities. Homozygous mice have abnormal B- and T-cell populations and lineage commitment. These mice may be useful in studing T cell lymphoma, AML and other cancers, transcription factors, and development of multiple cell lineages. Of note, the latency and penetrance of disease is slightly different from those ..... For more information please see the full phenotype on the strain data sheet
004964	STOCK Sftpa1^tm1Kor/J	Cryopreserved - Ready for recovery
	Mice that are homozygous for the targeted mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. No gene product (mRNA or protein) is detected by Northern or Western blot analysis of lung tissue from homozygous mice. Homozygotes are more susceptible (pneumonia and sepsis) to group B streptococcal, P. aeruginosa, and H. influenzae infections due to impaired bacteria clearance. Alveolar macrophages have impaired superoxide radical production. Administration of surfactant protein A increases phagocytosis of bacteria by macrophages. When experimentally infected with respiratory syncytial virus or influenza A, homozygotes have increased viral titer, pulmonary inflammatory cell infiltration and cytokine levels. This mutant mouse strain represents a model that may be useful in studies of host defense against respiratory pathogens and innate immune function. In an attempt to offer alleles on well-characterized or mul ..... For more information please see the full phenotype on the strain data sheet
012892	STOCK Slc26a1^tm1Mark/J	Cryopreserved - Ready for recovery
	Mice that are homozygous for the targeted mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. Although a mutant mRNA gene product is detected by RT-PCR analysis of kidney tissue, no protein activity is detected in any tissue analyzed from homozygotes. Homozygotes exhibit reduced oxalate and sulfate transport in in isolated basolateral membrane vesicles from intestine, kidney and liver; infiltration of leukocytes around renal cortical vessels; calcium oxalate crystals and stones in kidney and bladder; elevated plasma oxalate levels and urinary sulfate levels; and increased acetaminophen-induced liver toxicity. Idua, iduronidase, alpha-L-, gene product (mRNA and enzyme activity) is normal in mice homozygous for the targeted mutation.
006473	STOCK Smyd1^tm1Dsr/J	Cryopreserved - Ready for recovery
	Mice heterozygous for this targeted mutation are viable and fertile. Mice homozygous for this targeted allele, however, die between embryonic day (E) 9.5 and 10.5 due to cardiomyocyte maturation defects, including an enlarged heart, single left-side ventricular chamber with tremendous extra cellular matrix expansion between the myocardial and endocardial layers, and defective Hand2 expression. No mRNA transcripts from the targeted mutant gene are detected in cardiac tissue from E9.5 homozygotes. These mutant mice may be useful in studying cardiomyocyte differentiation and cardiac morphogenesis. In an attempt to offer alleles on well-characterized or multiple genetic backgrounds, alleles are frequently moved to a genetic background different from that on which an allele was first characterized. It should be noted that the phenotype could vary from that originally described. We will modify the strain description if necessary as published results become available.
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
008779	STOCK Th^tm1Srt/J	Cryopreserved - Ready for recovery
	Mice that are heterozygous for the targeted mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. A small amount of gene product (protein) is detected by Western blot analysis of heads of homozygotes embryonic day 14.5 in age. Homozygous mice have an embryonic lethal phenotype, begin to die at embryonic day 11.5 and fail to develop past embryonic day 14.5. Homozygous embryos exhibit abnormal heart development with dilated atria, thin atrial walls, ventricular hypoplasia and blood congestion, dying with symptoms of congestive heart failure. Catecholamine containing cells are not detected by glyoxylic acid-induced histofluorescence analysis of embryos. Administration of L-Dopa or +/- isoproterenol to pregnant heterozygous females rescues approximately 90% of the homozygous pups, which then survive up to 3 weeks after birth. Homozygous pups can also be rescued by exposuring the pregnant dam to high oxygen (33-60%). Norepinephrine, ..... For more information please see the full phenotype on the strain data sheet
010828	STOCK Tmpo^tm1.1Foi/J	Cryopreserved - Ready for recovery
	Mice that are homozygous for the targeted mutation are viable, fertile, normal in size and do not display any gross physical or behavioral abnormalities. No LAP2α gene product (mRNA or protein) is detected by Northern or Western blot analysis of primary fibroblasts from neonates. Expression of other TMPO isoforms was not significantly affected. A-type lamin localization is abnormal with decreased lamin in the nucleoplasm. Primary fibroblasts isolated from homozygotes exhibit delayed contact-mediated cell cycle arrest and attain a 1.5 fold increased density before cell cycle arrest compared to wildtype. Homozygotes display thickened plantar paw epidermis due to a twofold increase in proliferating cells. Hematocrit levels are increased. Mutants have a fourfold increased number of erythroid progenitor cells in the spleen and a smaller increase in erythroid progenitor cells in bone marrow. Large intestine crypts are lengthened in mutant mice. The colon epithelium has 20% mor ..... For more information please see the full phenotype on the strain data sheet
008469	STOCK Wnt9b^tm1.2Amc/J	Cryopreserved - Ready for recovery
	Mice homozygous for the Wnt9b^c allele are viable and fertile, with loxP sites flanking exon 2 of the targeted gene. When bred to mice that express Cre recombinase, the resulting offspring will have this region deleted in the cre-expressing tissue(s). Such deletion is predicted to result in out-of-frame splicing of exon 1 to exon 3, and consequently a mutant transcript that would encode a nonfunctional peptide comprising the first 27 amino acids of Wnt9b that includes the signal peptide. These Wnt9b^c mice may be useful in generating conditional mutations for studying the role of Wnt9b (and other Wnt family members) in development and canonical Wnt signaling cascades, including metanephric kidney and urogenital system development.
002506	STOCK Tg(CD3E)26Cpt-Rag1^tm1Mom/J	Cryopreserved - Ready for recovery
	Mice carrying both the (CD3E)26Cpt transgene (Stock No. 002194) and the Rag1^tm1Mom targeted mutation exhibits characteristics of both mutant strains. Double homozygous mutant mice produce no mature T, B, or NK cells. They have no CD3⁺ or T cell receptor (TCR) alpha-beta positive cells. The thymus of the mutant mice contains 15 to 130 times fewer cells than heterozygous or wildtype siblings. The thymocytes are CD8^-CD4^- and most are IL2 receptor positive. Neither the spleen nor bone marrow contain any IgM or IgD staining cells, indicating an absence of mature B cells. These and other data suggest that B cell and T cell development has been arrested at an early stage.
006619	STOCK Tg(Cga-LHB/CGB)94Jhn/J	Cryopreserved - Ready for recovery
	Hemizygous females are not fertile and hemizygous males are sub-fertile. Hemizygotes hypersecrete luteinizing hormone (LH) from pituitary gonadotropes under hypothalamic control. Inclusion of a bovine luteinizing hormone beta (LHB) sequence in the transgene results in a longer hormone half-life. Transgenic females display a range of reproductive and endocrine anomalies, while males are largely phenotypically normal. Transgenic males do not have elevated serum LH or testosterone when compared to wildtype animals, although their testes are significantly smaller. Transgenic females display elevated serum LH, androgens, and estrogens, with subsequent phenotypes including infertility with chronic anovulation and ovarian pathologies ranging from ovarian cysts to strain-dependent granulosa and theca-interstitial cell tumors. Tumors have been noted in mice from age 4 to 9 months. Other major phenotypes include hyperandrogenemia and precocious puberty, defects in uterine receptivity and mid-ges ..... For more information please see the full phenotype on the strain data sheet
001788	STOCK Tg(Fabp1-GH1)10Bir/J	Cryopreserved - Ready for recovery

001400	STOCK Tg(Fabp1-GH1)5Bir/J	Cryopreserved - Ready for recovery

001515	STOCK Tg(Fabp1-GH1)7Bir/J	Cryopreserved - Ready for recovery

001878	STOCK Tg(IFABP-GH)11Bir/J	Cryopreserved - Ready for recovery

001879	STOCK Tg(IFABP-GH)12Bir/J	Cryopreserved - Ready for recovery

001909	STOCK Tg(IFABP-GH)15Bir/J	Cryopreserved - Ready for recovery
	Obligate hemizygous F1 offspring from founder 54 carried approximately 60 copies of the transgene in tandem head-to-tail arrangement in a single insertion site. Expression of the reporter gene, human growth hormone, is appropriately restricted to the intestine where the duodenum and proximal jejunum show expression levels normal for intestinal fatty acid binding protein, but the distal small intestine shows reduced expression. Resultant serum human growth hormone levels were 6-38 ng/ml which is approximately 1000 times lower than in mice carrying a transgene with an extended I-FABP promoter which includes nucleotides -1178 to +28. Use of the extended (-1178 to +28) promoter also results in a more normal expression in the distal small intestine. (Sweetser et al., 1988.)
003262	STOCK Tg(Trp53A135V)L3Ber/J	Cryopreserved - Ready for recovery
	Mice homozygous for the (Trp53A135V)2Ber transgene are viable and fertile, but show a high incidence of tumors, particularly lung adenocarcinomas, osteosarcomas, and lymphomas. This strain may serve as a model for Li-Fraumeni syndrome.
007679	SWR.129X1(B6)-Apob^tm1.1Zc/J	Cryopreserved - Ready for recovery
	Mice homozygous for this apoB38.9 allele (apoB^38.9/38.9) are viable with impaired fertility, bearing a premature stop codon at residue 1767 of the targeted gene. As a result, homozygous plasma shows a truncated apoB38.9 as the sole apoB protein. Plasma from heterozygous (apoB^+/38.9) mice have reduced apoB100 and apoB48 compared to wildtype, with apoB38.9 representing 20% of total circulating apoB. This apoB38.9 truncation affects both apoB100 and apoB48 metabolism in mice, and mimics human Familial Hypobetalipoproteinemia (FHBL). Homozygous and, to a lesser extent, heterozygous mice exhibit symptoms of FHBL due to impaired lipoprotein export system/VLDL secretion, including elevated hepatic triglyceride (TG), cholesterol and free fatty acids (FFA), with decreased plasma TG and cholesterol. Because plasma and liver lipid profiles range from mild to severe in populations of heterozygous apoB38.9 mice on a mixed (C57BL/6J;129X1/SvJ) genetic background, apoB^+/38. ..... For more information please see the full phenotype on the strain data sheet
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 erythropoiesis, reticulo ..... For more information please see the full phenotype on the strain data sheet
000453	WB.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
000002	B6.C3-Pde6b^rd1 Hps4^le/J	Research Strain

013115	B6.Cg-Rag1^tm1Mom Tg(UBC-GFP)30Scha/J	Research Strain
	Tg(UBC-GFP)30Scha generates green fluorescent protein (GFP) expression in all cells of the body with cell lineage-specific variation in expression level. Hematopoetic cells have high expression levels compared with other cells and T cells have a 2-fold higher GFP expression level than that in CD19⁺B220⁺ B cells. The Rag1^tm1Mom targeted disruption, which blocks the intragenic recombination essential for T and B cell antigen receptor formation, leaves homozygous mice immunocompromised due to the inability to form functional, mature T and B cells. This strain, which combines this targeted mutation with this transgene, is a universal host that does not reject engraftment regardless of histoincompatibility and permits detection of host-derived embryos or tissues by detection of GFP, as long as the donor tissue is not also engineered to express GFP. Animals from this strain can also be used as sentinel mice in specific pathogen free environments. ..... For more information please see the full phenotype on the strain data sheet
003215	B6Pin.C3-Ap3b1^pe/J	Research Strain
	The homozygous pearl phenotype includes hypopigmentation of hair and eyes, prolonged bleeding times associated with platelet storage pool deficiency (SDP) and lysosomal accumulation of ceroid pigment. This combination of abnormalities is characteristic of a human hereditary disease, Hermansky-Pudlak syndrome. Pearl mice also exhibit reduced sensitivity in the dark-adapted state, altered somatostatin binding to the retina, and an increased rate of renal apoptosis, making them a potential model for human congenital stationary night blindness.
003423	BXSB.129P2(B6)-B2m^tm1Unc/Dcr	Research Strain
	BXSB mice develop spontaneous autoimmune disease characterized by moderate lymph node and spleen enlargement, hemolytic anemia, hypergammaglobulinemia, and immune complex glomerulonephritis. The disease process in BXSB is strikingly accelerated in males, which live little more than a third as long as females. The acceleration is due to the presence of the Yaa gene on the Y chromosome. Characteristics of mice homozygous for the B2m^tm1Unc targeted mutation include a lack of MHC class I protein expression on the cell surface. There are few CD8⁺ cytotoxic T-cells and under some circumstances a compensatory increase in CD4⁺ cytotoxic T-cells. Immune responses involving CD8⁺ T-cells are severely deficient providing a model to assess the role of CD8⁺ cells and class I MHC in various experimental systems. Hemachromatosis has been noted in certain genetic backgrounds (Rothenberg BE, Voland JR, Proc Natl Acad Sci USA 93: ..... For more information please see the full phenotype on the strain data sheet
002574	NOD.129P2(B6)-Il4^tm1Cgn/Dvs	Research Strain

004257	NOD.Cg-Prkdc^scid Tg(TcrLCMV)327Sdz/Dvs	Research Strain
	These mice do not develop diabetes; The presence of the T cell receptor expressing transgene does not alter the resistance to type 1 diabetes conferred to the NOD background by homozygosity for the scid mutation.
002313	NOD.Cg-Prkdc^scid Emv30^b/Dvs	Research Strain
	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

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New Strains Awaiting Transfer from the Donor

(See informational text following listing of strains)

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Please indicate your interest in purchasing any of the strains listed below when they become available for distribution by checking the box next to the strain(s) of interest and then selecting the "Continue" button which leads to an Interest Form.
View a Data sheet for New Strains Awaiting Transfer
Select the strain name to link to the strain data sheet.

Stock Number	Strain Name Strain Description	Standard Supply
018018	B10ScSn.Cg-Prkdc^scid Dmd^mdx/J	Awaiting Transfer from the Donor
MDX/SCID mice exhibit necrosis, centrally located nuclei and and the muscle degeneration characteristic of DMD and may be used a dystrophic model for the transplantation of human donor cells to evaluate skeletal muscle regeneration.
017591	B6(SJL)-Tardbp^tm1.1Pcw/J	Awaiting Transfer from the Donor
These floxed mice possess loxP sites flanking exon 3 of the Tardbp gene. Deletion results in premature death due to increased fat metabolism and leanness associated with ALS.
018054	B6.129P2(Cg)-Pitx2^tm1.1Dmm/J	Awaiting Transfer from the Donor
In this mutant strain, an IRES Tau-lacZ cassette abolishes expression of all three PITX2 isoforms. TaulacZ is expressed in neurons projecting from the mammillary tract of the hypothalamus.
017942	B6.129S7-Atxn1l^tm2.1Hzo/J	Awaiting Transfer from the Donor
Approximatley 50% of homozygous Atxn1l (ataxin 1-like) KO mice die before postnatal day 21. Hydrocephalus, omphalocele, and lung alveolar deficits are observed. This strain may be helpful in studies related to extracellular matrix remodeling and lung alveolarization.
017763	B6.Cg-Pax7^{tm1(cre/ERT2)Gaka}/J	Awaiting Transfer from the Donor
A CreER^T2 fusion protein sequence inserted downstream of the Pax7 stop codon allows endogenous PAX7 expression in these mice while permitting specific conditional labeling, manipulation, and deletion of satellite cells.
016541	B6N;129S6-Nkx3-1^tm2Mms/J	Awaiting Transfer from the Donor
In this Nkx3-1^lacZ mutant strain a β-galactosidase (lacZ) cassette disrupts the NK-3 transcription factor, locus 1 (Nkx3-1) gene, abolishing gene function. This strain may be useful for visualizing the differentiating prostate and the development of prostate tumors.
017620	NOD.Cg-Prkdc^scid Tg(CAG-DsRed*MST)1Nagy/KupwJ	Awaiting Transfer from the Donor
This compound mutant strain combines the immunodeficiency features of the Prkdc^scid mutation and widespread fluorescent cell labeling capabilities of CAG-DsRed on the NOD genetic background. These mice are effective recipients of allogeneic and xenogenic grafts, and are an excellent source of fluorescent-labeled cells for transfer experiments.
017606	STOCK Hopx^{tm2.1(cre/ERT2)Joe}/J	Awaiting Transfer from the Donor
These knockin mice harbor a tamoxifen-inducible CreER^T2 fusion gene in the 3' UTR of the Hopx gene. Cre activity is observed in intestinal epithelial stem cells.
017860	STOCK Kitl^tm1.1Sjm/J	Awaiting Transfer from the Donor
An EGFP reporter disrupts expression of the Kitl gene in this targeted mutation strain. EGFP is primarily expressed by perivascular endothelial and stromal cells throughout the bone marrow in heterozygotes.

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New Strains Awaiting Transfer from the Donor
Receive periodic updates on the status of the colony AWAITING TRANSFER

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The Jackson Laboratory serves as a worldwide distributor and national repository for common and rare strains of inbred mice and mice carrying spontaneous mutations or induced mutations (i.e., transgenic, targeted/"knockout", or chemically induced mutations). At any one time, we have over 100 strains at various stages of development and colony expansion.
It is VERY IMPORTANT that you register interest in strains Awaiting Transfer. The anticipated demand for a strain enables us to determine effectively the distribution plan for each strain. Registering interest also provides benefits to you (including advance notification of pending availability). Whether a strain is made available from a live colony OR from our cryopreservation repository, you may want to consider the option of Dedicated Supply. To learn more about Dedicated Supply, go to Services.

Additional Register Interest Strains

Please indicate your interest in purchasing any of the strains listed below when they become available for distribution by checking the box next to the strain(s) of interest and then selecting the "Continue" button which leads to an Interest Form.
View a Data sheet for a Strain
Select the strain name to link to the strain data sheet.

Stock Number	Strain Name Strain Description	Standard Supply
009109	B6.CBA-Tg(CAG-CYP27A1)23Etl/J	On Hold
These CYP27 overexpressor transgenic mice (or CYP27^overexp mice) have widespread expression of human cytochrome P450, family 27, subfamily A, polypeptide 1 directed by the CAG promoter. These mice may be useful in studying the conversion of cholesterol to bile acids (bile acid synthesis) by both the classical and alternate pathways, as well as lipid and cholesterol homeostasis research.
004606	NOD.Cg-Prkdc^scid H2-Ab1^tm1Doi Tg(HLA-DQA1,HLA-DQB1)1Dv/SzJ	On Hold
This strain which is MHC II deficient and has no functional T or B cells expresses a humanized transgenic HLA-DQ8 molecule that has been linked to IDDM development. This model is a valuable genetic tool for identifying the role of HLA-DQ8 in Type 1 Diabetes.
017788	129S-Hfe2^tm1Nca/J	In Progress
These Hfe2 knockout mice exhibit iron loading and have applications in studies of juvenile or Type2A hemochromatosis, iron homeostasis and iron-induced oxidative damage.
017785	129S-Hfe^tm2Nca/J	In Progress
These mice carry a targeted mutation of Hfe, hemochromatosis, exhibit iron loading, and have applications in studies of hereditary hemochromatosis, iron homeostasis and innate immune response
018066	B6.129-Gnmt^tm1Cwa/J	In Progress
In this strain a NEO cassette replaces exon1 and the promoter region of the Gnmt gene. This strain is a model for Glycine N-Methyltransferase Deficiency and has applications in studies of methionine metabolism, methylation and molecular markers for hepatocellular carcinoma.
017480	B6.129-Reg3g^tm1.1Lvh/J	In Progress
Reg3g (regenerating islet-derived 3 gamma) is a bactericidal C-type lectin that specifically targets Gram-positive bacteria. This knockout strain has been useful in studies of bacterial colonization of the small intestine and host intestinal-microbial homeostasis.
016937	B6.129S2-Lat^tm6(DTR)Mal/J	In Progress
Lat^fl-dtr mutant mice contain a loxP site downstream from exon 1, and an internal ribosome entry site (IRES), a human diphtheria toxin receptor, and an enhanced green fluorescent protein (EGFP) followed by a second loxP site downstream of the internal stop codon of the linker for activation of T cells (Lat) gene. These mice may be useful for studying the TCR signaling cascade and T cell homeostasis.
017588	B6.129X1-Cmah^tm1Avrk/J	In Progress
These CMAH KO mice may be useful for studying the hydroxylation of sialic acids required for protein/lipid synthesis and pancreatic beta cell function. In combination with other alleles, they may also have applications in studies realted to Duchenne muscular dystrophy.
012921	B6;129P2-Impad1^{Gt(RST634)Byg}/J	In Progress
Homozyous Impad1 (inositol monophosphatase domain containing 1; also called gPAPP) mutant mice die within 10 minutes of birth due to severe respiratory insufficiency and chondrodysplasia. Mutants have shortened limbs due to defects in endochondral ossification which are hypothesized to be due to an undersulfonation of chondroitin and heparin sulfate. This strain may be useful in studies of skeletal development and sulfation.
017971	B6N.129-Nlrp3^tm3Hhf/J	In Progress
These Nlrp3^D301NneoR mice serve as a constitutive knockout of the Nlrp3 gene. In the presence of cre recombinase however, a transcript encoding a D301N mutation is produced. This line may be useful in studying the role of cryopyrin in the regulation of autoinflammatory diseases.
017743	B6N;129S-Prom1^{tm1(cre/ERT2)Gilb}/J	In Progress
A CreER^T2 fusion protein and β-galactosidase (lacZ) gene knocked into the ATG start codon of Prom1 abolishes gene function in these mice. Useful applications include visualizing and tracking adult stem cell lineages.
017481	C57BL/6-Tg(Vil1-Myd88)1Lvh/J	In Progress
This Myd88 (myeloid differentiation primary response gene 88) transgene is expressed exclusively in the epithelium of the small intestine via a mouse Vil1 (villin 1) promoter. It has been useful in studies of bacterial colonization.
017343	STOCK Slc19a3^tm1Said/J	In Progress
This THTR-2^- knockout mouse line has a deletion of exons 1-2 of the Slc19a3 gene. These mice may be useful in studying the role of thiamin transporters in regulating thiamin homeostasis in different cells; including liver and kidney cells.
017784	B6.129S6-Hfe^tm2Nca/J	Under Development for Cryo
These mice carry a targeted mutation of Hfe, hemochromatosis, exhibit iron loading, and have applications in studies of hereditary hemochromatosis, iron homeostasis and innate immune response.
014550	B6.Cg-Thy1^a Tg(TcraCWM5,TcrbCWM5)1807Wuth/J	Under Development for Cryo
These Bd 1807 TCR transgenic mice feature a CD4+ T cell repertoire that are reactive to several types of dimorphic fungi that cause major systemic mycoses found in North America.
010939	B6.Cg-Tg(ACTB-UPF1*R844C)581Hcd/J	Under Development for Cryo
Human beta actin drives expression of the dominant negative R844C form of the human (UPF1)cDNA in these transgenic mice resulting in T cell-related defects.

(16 stocks) Back to Top

It is VERY IMPORTANT that you Register Interest. The anticipated demand for a strain enables us to determine effectively the distribution plan for each strain.

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JAX® Mice Strains

New Strains Awaiting Transfer from the Donor

Additional Register Interest Strains

JAX^® Mice Strains