- decreased susceptibility to experimental autoimmune encephalomyelitis / MGI
- decreased T cell proliferation / MGI
- abnormal digestive system physiology / MGI
- immune system phenotype / MGI
- abnormal T-helper 1 physiology / MGI
- abnormal T-helper 2 physiology / MGI
- abnormal ventral coat pigmentation / MGI
- decreased mast cell number / MGI
- abnormal mast cell physiology / MGI
- absent coat pigmentation / MGI
- small ovary / MGI
- small testis / MGI
- abnormal spermatogenesis / MGI
- infertility / MGI
- abnormal ovarian follicle number / MGI
- high mean erythrocyte cell number / MGI
- increased hematocrit / MGI
- irregular coat pigmentation / MGI
- abnormal coat/hair pigmentation / MGI
- variable body spotting / MGI
- reproductive system phenotype / MGI
- hematopoietic system phenotype / MGI
- decreased body weight / MGI
- prenatal lethality / MGI
- macrocytic anemia / MGI
- abnormal survival / MGI
- perinatal lethality, incomplete penetrance / MGI
- abnormal eye pigmentation / MGI
- postnatal lethality, complete penetrance / MGI
- altered response to myocardial infarction / MGI
- kidney inflammation / MGI
- decreased inflammatory response / MGI
- decreased airway responsiveness / MGI
- increased urine protein level / MGI
- increased myocardial infarction size / MGI
- decreased vascular permeability / MGI
- abnormal response/metabolism to endogenous compounds / MGI
- abnormal renal glomerulus morphology / MGI
- impaired neutrophil recruitment / MGI
- abnormal interferon level / MGI
- abnormal interleukin level / MGI
- increased sensitivity to induced morbidity/mortality / MGI
- increased erythrocyte protoporphyrin level / MGI
- glomerular crescent / MGI
- abnormal Sertoli cell morphology / MGI
- abnormal histamine physiology / MGI
- decreased susceptibility to induced arthritis / MGI
- abnormal body temperature / MGI
- decreased susceptibility to type I hypersensitivity reaction / MGI
- decreased basophil cell number / MGI
- hepatic steatosis / MGI
- preweaning lethality, incomplete penetrance / MGI
- increased papilloma incidence / MGI
- increased esophageal papilloma incidence / MGI
- peptic ulcer / MGI
- abnormal response to transplant / MGI
- abnormal muscle physiology / MGI
- abnormal interstitial cell of Cajal morphology / MGI
- increased sensitivity to xenobiotic induced morbidity/mortality / MGI
- prenatal lethality, complete penetrance / MGI
B6Rcc.Cg-Cd44tm1.1Ugu KitW/Cnrm
Status | Available to order |
EMMA ID | EM:04330 |
International strain name | B6Rcc.Cg-Cd44tm1.1Ugu KitW/Cnrm |
Alternative name | C57 BL/6RCC c-kitW CD44v6v7-/- |
Strain type | Spontaneous |
Allele/Transgene symbol | KitW, Cd44tm1.1Ugu |
Gene/Transgene symbol | Kit, Cd44 |
Information from provider
Provider | Ursula Günthert |
Provider affiliation | Institut für Pathologie, University of Basel |
Genetic information | Targeting construct was derived from 129 DNA. Cd44tm1.1Ugu(Cd44v6v7): targeted deletion of both exons, leaving the rest of the gene intact. Alternative splicing of all variant exons is intact, except for the missing exons v6 and v7. c-KitW/W mice (Cd117-/-) carry a G to A nucleotide exchange in the W allele, which affects the splice donor site of intron 10. This causes skipping of exon 10 (encoding the transmembrane domain) and missplicing of exon 9 to exon 11. The W mutant of c-Kit (Cd117) lacks the transmembrane domain and cannot be expressed on the surface. |
Phenotypic information | KitW(Cd117-/-): Macrocytic anaemia, reduced red blood cells number with increased volume. Cd44v6v7-/-: Strongly reduced symptoms in colitis, rheumatoid arthritis and experimental autoimmune encephalomyelitis, defects in haemopoiesis. |
Breeding history | Backcrossed for 10 generations onto C57BL/6Rcc; then bred as C57BL/6Rcc Cd117 +/? Cd44v6v7?/?. Only the Cd44v6v7 mutation is kept homozygous, Cd117 mutation has to be kept heterozygous. Cd117-/- are not viable. |
References |
|
Homozygous fertile | yes |
Homozygous viable | yes |
Homozygous matings required | yes |
Immunocompromised | no |
Information from EMMA
Archiving centre | CNR, Consiglio Nazionale delle Ricerche, Monterotondo, Italy |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Systemic mastocytosis with associated hematologic neoplasm / Orphanet_98849
- Isolated bone marrow mastocytosis / Orphanet_158778
- Acute myeloblastic leukemia with maturation / Orphanet_98834
- Gastrointestinal stromal tumor / Orphanet_44890
- Testicular seminomatous germ cell tumor / Orphanet_842
- Smoldering systemic mastocytosis / Orphanet_158775
- Piebaldism / Orphanet_2884
- Typical urticaria pigmentosa / Orphanet_158766
- Pseudoxanthomatous diffuse cutaneous mastocytosis / Orphanet_280794
- Plaque-form urticaria pigmentosa / Orphanet_158769
- Chronic mast cell leukemia / Orphanet_566396
- Telangiectasia macularis eruptiva perstans / Orphanet_90389
- Acute mast cell leukemia / Orphanet_566393
- Cutaneous mastocytoma / Orphanet_79455
- Bullous diffuse cutaneous mastocytosis / Orphanet_280785
- Nodular urticaria pigmentosa / Orphanet_158772
MGI phenotypes (allele matching)
MGI phenotypes (gene matching)
- decreased mast cell number / MGI
- altered response to myocardial infarction / MGI
- abnormal cell morphology / MGI
- decreased mast cell histamine storage / MGI
- abnormal uterus morphology / MGI
- thin epidermis / MGI
- abnormal lipid level / MGI
- abnormal vasculogenesis / MGI
- abnormal digestive system physiology / MGI
- impaired wound healing / MGI
- impaired macrophage phagocytosis / MGI
- liver inflammation / MGI
- lung inflammation / MGI
- abnormal definitive hematopoiesis / MGI
- no abnormal phenotype detected / MGI
- abnormal CD4-positive, alpha beta T cell morphology / MGI
- abnormal neutrophil physiology / MGI
- short tibia / MGI
- impaired skin barrier function / MGI
- delayed wound healing / MGI
- decreased myocardial infarction size / MGI
- abnormal leukocyte migration / MGI
- peritoneal inflammation / MGI
- decreased susceptibility to induced arthritis / MGI
- decreased tumor growth/size / MGI
- abnormal leukocyte adhesion / MGI
- abnormal physiological neovascularization / MGI
- increased susceptibility to induced arthritis / MGI
- enhanced coordination / MGI
- decreased cholesterol level / MGI
- abnormal vascular endothelial cell physiology / MGI
- decreased susceptibility to kidney reperfusion injury / MGI
- abnormal miniature excitatory postsynaptic currents / MGI
- decreased susceptibility to experimental autoimmune encephalomyelitis / MGI
- increased mean systemic arterial blood pressure / MGI
- abnormal CD8-positive, alpha beta T cell morphology / MGI
- abnormal response to infection / MGI
- increased susceptibility to parasitic infection / MGI
- impaired natural killer cell mediated cytotoxicity / MGI
- decreased acute inflammation / MGI
- increased acute inflammation / MGI
- decreased T cell proliferation / MGI
- digestive/alimentary phenotype / MGI
- immune system phenotype / MGI
- hematopoietic system phenotype / MGI
- abnormal CD4-positive, alpha-beta T cell physiology / MGI
- abnormal T-helper 1 physiology / MGI
- abnormal T-helper 2 physiology / MGI
- choroidal neovascularization / MGI
- decreased circulating creatinine level / MGI
- decreased blood urea nitrogen level / MGI
- abnormal vascular smooth muscle physiology / MGI
- decreased angiogenesis / MGI
- decreased susceptibility to type IV hypersensitivity reaction / MGI
- abnormal cell physiology / MGI
- abnormal vascular endothelial cell morphology / MGI
- abnormal involution of the mammary gland / MGI
- increased diameter of tibia / MGI
- abnormal osteoclast differentiation / MGI
- increased circulating tumor necrosis factor level / MGI
- decreased circulating tumor necrosis factor level / MGI
- increased tumor necrosis factor secretion / MGI
- abnormal interleukin secretion / MGI
- increased circulating interferon-gamma level / MGI
- increased circulating interleukin-2 level / MGI
- increased interleukin-1 beta secretion / MGI
- increased interleukin-10 secretion / MGI
- increased interleukin-6 secretion / MGI
- impaired neutrophil recruitment / MGI
- abnormal chemokine secretion / MGI
- decreased transforming growth factor level / MGI
- decreased sensitivity to induced cell death / MGI
- abnormal epidermal lamellar body morphology / MGI
- increased sensitivity to induced morbidity/mortality / MGI
- abnormal circulating chemokine level / MGI
- abnormal circulating cytokine level / MGI
- decreased activation-induced cell death of T cells / MGI
- increased mitochondria size / MGI
- abnormal mitochondrial crista morphology / MGI
- decreased fibroblast proliferation / MGI
- impaired leukocyte tethering or rolling / MGI
- abnormal ear pigmentation / MGI
- abnormal cochlea morphology / MGI
- abnormal organ of Corti morphology / MGI
- organ of Corti degeneration / MGI
- abnormal stria vascularis morphology / MGI
- decreased circulating LDL cholesterol level / MGI
- decreased circulating HDL cholesterol level / MGI
- decreased hematocrit / MGI
- abnormal erythropoiesis / MGI
- macrocytosis / MGI
- increased mast cell number / MGI
- decreased bone marrow cell number / MGI
- decreased mast cell number / MGI
- altered response to myocardial infarction / MGI
- head blaze / MGI
- diluted coat color / MGI
- irregular coat pigmentation / MGI
- belly spot / MGI
- alopecia / MGI
- abnormal digestive system morphology / MGI
- abnormal esophagus morphology / MGI
- abnormal cecum morphology / MGI
- enlarged spleen / MGI
- spleen hyperplasia / MGI
- spleen hypoplasia / MGI
- decreased thymocyte number / MGI
- abnormal female reproductive system morphology / MGI
- abnormal oocyte morphology / MGI
- abnormal ovary morphology / MGI
- small ovary / MGI
- ovary hyperplasia / MGI
- impaired ovarian folliculogenesis / MGI
- abnormal ovarian folliculogenesis / MGI
- abnormal ovarian follicle morphology / MGI
- constricted vagina orifice / MGI
- abnormal male reproductive system morphology / MGI
- small testis / MGI
- Leydig cell hyperplasia / MGI
- arrest of spermatogenesis / MGI
- abnormal spermatogenesis / MGI
- pigmentation phenotype / MGI
- hyperpigmentation / MGI
- absent skin pigmentation / MGI
- reddish skin / MGI
- decreased body weight / MGI
- distended abdomen / MGI
- abnormal eye pigmentation / MGI
- anemia / MGI
- abnormal erythrocyte cell number / MGI
- abnormal vascular permeability / MGI
- abnormal digestive system physiology / MGI
- postnatal growth retardation / MGI
- increased circulating luteinizing hormone level / MGI
- arrested B cell differentiation / MGI
- kidney inflammation / MGI
- decreased inflammatory response / MGI
- reduced fertility / MGI
- reduced male fertility / MGI
- reduced female fertility / MGI
- infertility / MGI
- male infertility / MGI
- female infertility / MGI
- decreased litter size / MGI
- testis hypoplasia / MGI
- deafness / MGI
- increased papilloma incidence / MGI
- ovary cysts / MGI
- abnormal coat/hair pigmentation / MGI
- prenatal lethality / MGI
- perinatal lethality / MGI
- postnatal lethality / MGI
- premature death / MGI
- abnormal skin pigmentation / MGI
- abnormal muscle physiology / MGI
- abnormal definitive hematopoiesis / MGI
- abnormal B cell differentiation / MGI
- abnormal T cell differentiation / MGI
- abnormal seminiferous tubule morphology / MGI
- decreased airway responsiveness / MGI
- abnormal proerythroblast morphology / MGI
- abnormal mast cell physiology / MGI
- abnormal erythrocyte morphology / MGI
- increased mean corpuscular volume / MGI
- decreased mean corpuscular volume / MGI
- high mean erythrocyte cell number / MGI
- low mean erythrocyte cell number / MGI
- increased mean platelet volume / MGI
- decreased basophil cell number / MGI
- increased hematocrit / MGI
- hepatic steatosis / MGI
- belted / MGI
- asthenozoospermia / MGI
- abnormal spermatogonia proliferation / MGI
- oligozoospermia / MGI
- absent ovarian follicles / MGI
- abnormal Sertoli cell morphology / MGI
- microcytic anemia / MGI
- macrocytic anemia / MGI
- abnormal cochlear ganglion morphology / MGI
- cochlear ganglion degeneration / MGI
- polycythemia / MGI
- decreased hemoglobin content / MGI
- decreased erythrocyte cell number / MGI
- abnormal melanocyte morphology / MGI
- abnormal otolith morphology / MGI
- white spotting / MGI
- head spot / MGI
- variable body spotting / MGI
- increased urine protein level / MGI
- abnormal primordial germ cell migration / MGI
- no phenotypic analysis / MGI
- increased myocardial infarction size / MGI
- decreased vascular permeability / MGI
- increased erythrocyte cell number / MGI
- increased erythroid progenitor cell number / MGI
- enlarged otoliths / MGI
- abnormal tectorial membrane morphology / MGI
- reversion by mitotic recombination / MGI
- intestinal obstruction / MGI
- increased esophageal papilloma incidence / MGI
- peptic ulcer / MGI
- decreased susceptibility to induced arthritis / MGI
- decreased tumor growth/size / MGI
- abnormal response/metabolism to endogenous compounds / MGI
- abnormal male reproductive system physiology / MGI
- pallor / MGI
- increased tumor growth/size / MGI
- belly blaze / MGI
- decreased fetal size / MGI
- vestibular hair cell degeneration / MGI
- cochlear hair cell degeneration / MGI
- thin stria vascularis / MGI
- abnormal strial basal cell morphology / MGI
- abnormal strial marginal cell morphology / MGI
- abnormal stria vascularis vasculature morphology / MGI
- abnormal cochlear outer hair cell morphology / MGI
- absent endocochlear potential / MGI
- absent oocytes / MGI
- decreased testis weight / MGI
- decreased male germ cell number / MGI
- decreased epididymis weight / MGI
- increased B cell number / MGI
- decreased B cell number / MGI
- increased susceptibility to parasitic infection / MGI
- abnormal melanosome morphology / MGI
- azoospermia / MGI
- absent coat pigmentation / MGI
- non-pigmented tail tip / MGI
- decreased circulating cholesterol level / MGI
- abnormal renal glomerulus morphology / MGI
- homeostasis/metabolism phenotype / MGI
- hearing/vestibular/ear phenotype / MGI
- growth/size/body region phenotype / MGI
- digestive/alimentary phenotype / MGI
- immune system phenotype / MGI
- reproductive system phenotype / MGI
- hematopoietic system phenotype / MGI
- abnormal action potential / MGI
- thrombocytosis / MGI
- abnormal body temperature / MGI
- increased mean corpuscular hemoglobin / MGI
- increased hemoglobin content / MGI
- decreased susceptibility to type I hypersensitivity reaction / MGI
- increased bleeding time / MGI
- increased mean corpuscular hemoglobin concentration / MGI
- abnormal response to transplant / MGI
- absent strial intermediate cells / MGI
- abnormal vestibular saccule morphology / MGI
- abnormal female germ cell morphology / MGI
- abnormal male germ cell morphology / MGI
- decreased Cajal-Retzius cell number / MGI
- abnormal ventral coat pigmentation / MGI
- increased megakaryocyte cell number / MGI
- abnormal primordial germ cell proliferation / MGI
- abnormal primordial germ cell morphology / MGI
- slow postnatal weight gain / MGI
- impaired neutrophil recruitment / MGI
- abnormal interferon level / MGI
- abnormal interleukin level / MGI
- increased mast cell degranulation / MGI
- decreased mast cell degranulation / MGI
- decreased survivor rate / MGI
- abnormal erythroid progenitor cell morphology / MGI
- abnormal ovarian follicle number / MGI
- increased physiological sensitivity to xenobiotic / MGI
- decreased physiological sensitivity to xenobiotic / MGI
- delayed female fertility / MGI
- meteorism / MGI
- abnormal primordial ovarian follicle morphology / MGI
- abnormal foot pigmentation / MGI
- enlarged cecum / MGI
- small cecum / MGI
- distended cecum / MGI
- distended ileum / MGI
- distended stomach / MGI
- increased gastrointestinal stromal tumor incidence / MGI
- abnormal interstitial cell of Cajal morphology / MGI
- interstitial cells of Cajal hyperplasia / MGI
- impaired behavioral response to xenobiotic / MGI
- increased sensitivity to induced morbidity/mortality / MGI
- increased sensitivity to xenobiotic induced morbidity/mortality / MGI
- abnormal melanoblast morphology / MGI
- abnormal melanoblast migration / MGI
- variable depigmentation / MGI
- increased gastrointestinal tumor incidence / MGI
- abnormal survival / MGI
- abnormal myenteric nerve plexus morphology / MGI
- lethality, incomplete penetrance / MGI
- lethality at weaning, incomplete penetrance / MGI
- postnatal lethality, complete penetrance / MGI
- postnatal lethality, incomplete penetrance / MGI
- neonatal lethality, complete penetrance / MGI
- neonatal lethality, incomplete penetrance / MGI
- perinatal lethality, complete penetrance / MGI
- perinatal lethality, incomplete penetrance / MGI
- prenatal lethality, complete penetrance / MGI
- embryonic lethality, complete penetrance / MGI
- embryonic lethality before implantation, complete penetrance / MGI
- embryonic lethality during organogenesis, complete penetrance / MGI
- lethality throughout fetal growth and development, complete penetrance / MGI
- prenatal lethality, incomplete penetrance / MGI
- embryonic lethality during organogenesis, incomplete penetrance / MGI
- preweaning lethality, incomplete penetrance / MGI
- increased erythroblast number / MGI
- increased erythrocyte protoporphyrin level / MGI
- decreased tail pigmentation / MGI
- decreased ear pigmentation / MGI
- glomerular crescent / MGI
- increased or absent threshold for auditory brainstem response / MGI
- abnormal circulating histamine level / MGI
Literature references
- Abrogation of experimental colitis correlates with increased apoptosis in mice deficient for CD44 variant exon 7 (CD44v7).;Wittig B M, Johansson B, Zöller M, Schwärzler C, Günthert U, ;2000;The Journal of experimental medicine;191;2053-64; 10859330
- Variant isoforms of CD44 are required in early thymocyte development.;Schwärzler C, Oliferenko S, Günthert U, ;2001;European journal of immunology;31;2997-3005; 11592076
Information on how we integrate external resources can be found here
INFRAFRONTIER® and European Mouse Mutant Archive - EMMA® are registered trademarks at the European Union Intellectual Property Office (EUIPO).