Phenotypes Associated with This Genotype

Genotype
MGI:3773052

• Allelic Composition: Kit^tm1Shta/Kit^tm1Shta
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * FVB/N

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

mortality/aging

premature death ( J:130890 )

• mice die within 10 weeks of birth likely due to ileus

digestive/alimentary system

abnormal digestive system morphology ( J:130890 )

• unlike in wild-type, mice exhibit pronounced spindle-shaped cell proliferations in the lower esophagus, stomach, proximal duodenum and colon with more severe proliferations in the pylorus and proximal colon resulting in luminal narrowing

• however, small intestines are normal

abnormal esophagus morphology ( J:130890 )

• mice exhibit black lesions at the lower esophagus due to melanocyte aggregations in muscularis propria and adventitia

distended ileum ( J:130890 )

• mice often exhibit a distended ileum due to luminal narrowing

distended stomach ( J:130890 )

• mice often exhibit a distended stomach due to luminal narrowing

increased gastrointestinal stromal tumor incidence ( J:130890 )

• mice exhibit a large whitish, linear tumor that almost entirely replace the cecum

• mice develop cecal tumors at any age

neoplasm

increased gastrointestinal stromal tumor incidence ( J:130890 )

• mice exhibit a large whitish, linear tumor that almost entirely replace the cecum

• mice develop cecal tumors at any age

reproductive system

reproductive system phenotype ( J:130890 )

N • unlike mice carrying other alleles of this gene, mice exhibit normal spermatogenesis

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
gastrointestinal stromal tumor		DOID:9253	OMIM:606764	J:130890