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Phenotypes Associated with This Genotype
Genotype
MGI:3773052
Allelic
Composition
Kittm1Shta/Kittm1Shta
Genetic
Background
involves: 129S6/SvEvTac * C57BL/6 * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Kittm1Shta mutation (0 available); any Kit mutation (138 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mice die within 10 weeks of birth likely due to ileus

digestive/alimentary system
• 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
• mice exhibit black lesions at the lower esophagus due to melanocyte aggregations in muscularis propria and adventitia
• mice often exhibit a distended ileum due to luminal narrowing
• mice often exhibit a distended stomach due to luminal narrowing
• mice exhibit a large whitish, linear tumor that almost entirely replace the cecum
• mice develop cecal tumors at any age

neoplasm
• mice develop cecal tumors at any age
• mice exhibit a large whitish, linear tumor that almost entirely replace the cecum

reproductive system
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


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
03/14/2017
MGI 6.08
The Jackson Laboratory