- 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
- immune system phenotype / 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 digestive system physiology / 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-KitW/Cnrm
Status | Available to order |
EMMA ID | EM:01989 |
Citation information | RRID:IMSR_EM:01989 Research Resource Identifiers (RRID) are persistent unique ID numbers assigned to help researchers cite key resources (e.g. antibodies, model organisms and software projects) in the biomedical literature to improve transparency and reproducibility in research. See https://www.rrids.org/ for more information. |
International strain name | B6Rcc.Cg-KitW/Cnrm |
Alternative name | C57 BL/6RCC c-kitW |
Strain type | Spontaneous |
Allele/Transgene symbol | KitW |
Gene/Transgene symbol | Kit |
Information from provider
Provider | Ursula Günthert |
Provider affiliation | Institut für Pathologie, University of Basel |
Genetic information | The KitW (KIT proto-oncogene; dominant spotting) allele, is a spontaneous mutation in the Kit (Cd117) gene which involves a G to A nucleotide exchange affecting the splice donor site of intron 10. This causes skipping of exon 10, the exon encoding the transmembrane domain, resulting in a protein that can not be expressed on the cell surface. |
Phenotypic information | Cd117-/-: Macrocytic anaemia, reduced red blood cells number with increased volume. Homozygous mice die at day 10 after birth. |
Breeding history | 10 generations backcrossed onto C57BL/6Rcc; currently bred as C57BL/6Rcc Cd117 +/-. |
References |
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Information from EMMA
Archiving centre | CNR, Consiglio Nazionale delle Ricerche, Monterotondo, Italy |
Disease and phenotype information
MGI allele-associated human disease models
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)
- 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
- Prevention of genetic anemias in mice by microinjection of normal hematopoietic stem cells into the fetal placenta.;Fleischman R A, Mintz B, ;1979;Proceedings of the National Academy of Sciences of the United States of America;76;5736-40; 42904
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