Phenotypes Associated with This Genotype

Genotype
MGI:5442707

• Allelic Composition: Kit^tm4.1Bsm/Kit⁺
• Genetic Background: involves: 129S1/Sv * C57BL/6J * FVB/N

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

Alopecia and 'red paw' in Kit^tm4.1Bsm/Kit⁺ mice

mortality/aging

premature death ( J:188434 )

• median survival is 14 months

• however, survival is improved compared to in Kit^tm5.1Bsm heterozygotes

hematopoietic system

enlarged spleen ( J:188434 )

spleen hyperplasia ( J:188434 )

• 1.5-fold without gross alterations in splenic architecture

increased erythroid progenitor cell number ( J:188434 )

• increased burst-forming unit erythroid (BFU-E) and erythroid (CFU-E) colonies and in the bone marrow and spleen

abnormal erythrocyte morphology ( J:188434 )

• smaller in diameter than wild-type cells

increased erythrocyte cell number ( J:188434 )

polycythemia ( J:188434 )

• microcytic erythrocytosis reminiscent of myeloproliferative neoplasms

increased hematocrit ( J:188434 )

• between 3 and 8 weeks of age

decreased mean corpuscular volume ( J:188434 )

• compared with Kit^tm5.1Bsm heterozygotes; without an increase in platelet count

increased mast cell number ( J:188434 )

• more pronounced mast cell hyperplasia in the skin compared to in Kit^tm5.1Bsm heterozygotes

• half of male mice exhibit accumulation of mast cells around Leydig cells unlike in wild-type mice

increased mean platelet volume ( J:188434 )

• without an increase in platelet count

digestive/alimentary system

interstitial cells of Cajal hyperplasia ( J:188434 )

• more pronounced in the stomach and colon than in Kit^tm5.1Bsm heterozygotes

small cecum ( J:188434 )

• reduced cecum length compared to in Kit^tm5.1Bsm heterozygotes

increased gastrointestinal tumor incidence ( J:188434 )

• mice develop cecal tumors that are smaller than in Kit^tm5.1Bsm

neoplasm

increased gastrointestinal tumor incidence ( J:188434 )

• mice develop cecal tumors that are smaller than in Kit^tm5.1Bsm

decreased tumor growth/size ( J:188434 )

• smaller tumors than in Kit^tm5.1Bsm heterozygotes

integument

alopecia ( J:188434 )

• intermittent partial alopecia between P15 and P40 associated with increased mast cells

reddish skin ( J:188434 )

• reddening of the paws from P40 onward

homeostasis/metabolism

decreased physiological sensitivity to xenobiotic ( J:188434 )

• mice exhibit resistance to imatinib and dasatinib in vivo compared with Kit^tm5.1Bsm heterozygotes

• however, sunitinib and sorafenib overcomes resistance

immune system

enlarged spleen ( J:188434 )

spleen hyperplasia ( J:188434 )

• 1.5-fold without gross alterations in splenic architecture

increased mast cell number ( J:188434 )

• more pronounced mast cell hyperplasia in the skin compared to in Kit^tm5.1Bsm heterozygotes

• half of male mice exhibit accumulation of mast cells around Leydig cells unlike in wild-type mice

growth/size/body

enlarged spleen ( J:188434 )

spleen hyperplasia ( J:188434 )

• 1.5-fold without gross alterations in splenic architecture

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
gastrointestinal stromal tumor		DOID:9253	OMIM:606764	J:188434