- 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 | Targeted Mutant Strains : Knock-out |
Allele/Transgene symbol | Cd44tm1.1Ugu, |
Gene/Transgene symbol | 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)
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
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