All Phenotypes Kit<tm1Shta> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Kit^tm1Shta/Kit^tm1Shta	involves: 129S6/SvEvTac * C57BL/6 * FVB/N	MGI:3773052
ht2	Kit^tm1Shta/Kit⁺	involves: 129S6/SvEvTac * C57BL/6 * FVB/N	MGI:3773053

♀	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

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Kit^tm1Shta mutation (0 available); any Kit mutation (179 available)

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

digestive/alimentary system

abnormal digestive system morphology ( J:130890 )

• mice exhibit spindle-shaped cell proliferations in the lower esophagus, stomach, proximal duodenum and colon unlike in wild-type mice

• 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

increased gastrointestinal stromal tumor incidence ( J:130890 )

• mice exhibit a small but apparent whitish, linear tumor in the cecum

• mice develop cecal tumors at any age

neoplasm

increased gastrointestinal stromal tumor incidence ( J:130890 )

• mice exhibit a small but apparent whitish, linear tumor in the cecum

• mice develop cecal tumors at any age

reproductive system

reproductive system phenotype ( J:130890 )

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

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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