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Phenotypes Associated with This Genotype
Genotype
MGI:5442707
Allelic
Composition
Kittm4.1Bsm/Kit+
Genetic
Background
involves: 129S1/Sv * C57BL/6J * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Kittm4.1Bsm mutation (0 available); any Kit mutation (133 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Alopecia and 'red paw' in Kittm4.1Bsm/Kit+ mice

mortality/aging
• median survival is 14 months
• however, survival is improved compared to in Kittm5.1Bsm heterozygotes

hematopoietic system
• increased burst-forming unit erythroid (BFU-E) and erythroid (CFU-E) colonies and in the bone marrow and spleen
• smaller in diameter than wild-type cells
• microcytic erythrocytosis reminiscent of myeloproliferative neoplasms
• between 3 and 8 weeks of age
• compared with Kittm5.1Bsm heterozygotes; without an increase in platelet count
• more pronounced mast cell hyperplasia in the skin compared to in Kittm5.1Bsm heterozygotes
• half of male mice exhibit accumulation of mast cells around Leydig cells unlike in wild-type mice
• without an increase in platelet count
• 1.5-fold without gross alterations in splenic architecture

digestive/alimentary system
• more pronounced in the stomach and colon than in Kittm5.1Bsm heterozygotes
• reduced cecum length compared to in Kittm5.1Bsm heterozygotes
• mice develop cecal tumors that are smaller than in Kittm5.1Bsm

neoplasm
• mice develop cecal tumors that are smaller than in Kittm5.1Bsm
• smaller tumors than in Kittm5.1Bsm heterozygotes

integument
• intermittent partial alopecia between P15 and P40 associated with increased mast cells
• reddening of the paws from P40 onward

homeostasis/metabolism
• mice exhibit resistance to imatinib and dasatinib in vivo compared with Kittm5.1Bsm heterozygotes
• however, sunitinib and sorafenib overcomes resistance

immune system
• more pronounced mast cell hyperplasia in the skin compared to in Kittm5.1Bsm heterozygotes
• half of male mice exhibit accumulation of mast cells around Leydig cells unlike in wild-type mice
• 1.5-fold without gross alterations in splenic architecture

Mouse Models of Human Disease
OMIM ID Ref(s)
Gastrointestinal Stromal Tumor; GIST 606764 J:188434


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
05/17/2016
MGI 6.03
The Jackson Laboratory