- 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 |
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)
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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