- decreased susceptibility to experimental autoimmune encephalomyelitis / MGI
- decreased T cell proliferation / 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
- 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-Cd44tm2.1Ugu KitW/Cnrm
Status | Available to order |
EMMA ID | EM:01988 |
International strain name | B6Rcc.Cg-Cd44tm2.1Ugu KitW/Cnrm |
Alternative name | C57 BL/6RCC c-kitW CD44v10-/- |
Strain type | Targeted Mutant Strains : Knock-out |
Allele/Transgene symbol | Cd44tm2.1Ugu, |
Gene/Transgene symbol | Cd44 |
Information from provider
Provider | Ursula Günthert |
Provider affiliation | Institut für Pathologie, University of Basel |
Genetic information | The mouse Cd44 variant region was isolated from a 129SV genomic library. Two 34 bp loxP sites were inserted in direct repeats into a single BstEII site 5' of exon v10 and at the 3' end of the neo resistance cassette, which was then inserted into the single BstXI site 3' of exon v10. The targeting vector was transfected in ES cells and homologous recombinant clones injected into C57BL/6 blastocysts. Chimaeric male offspring was then mated with C57BL/6 cre recombinaase deleter females to allow the removal of the loxP flanked region. Offspring was genotyped by PCR using exon v10 flanking oligos and analysing for the deletion of the loxP targeted region. 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 | Cd44v10-/-: Homozygous mice are viable and fertile, display strongly reduced symptoms in autoimmune diseases and defects in haemopoiesis. Cd117-/-: Macrocytic anaemia, reduced red blood cells number with increased volume. Homozygous mice die at day 10 after birth. |
Breeding history | 10 generations backcrossed to C57BL/6Rcc. Currently bred as C57BL/6Rcc Cd117+/- ; Cd44v10-/- |
References |
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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
- 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
- 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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