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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 (113 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 (J:130890)
• mice die within 10 weeks of birth likely due to ileus (J:130890)

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 (J:130890)
• however, small intestines are normal (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 (J:130890)
• however, small intestines are normal (J:130890)
• mice exhibit black lesions at the lower esophagus due to melanocyte aggregations in muscularis propria and adventitia (J:130890)
• mice exhibit black lesions at the lower esophagus due to melanocyte aggregations in muscularis propria and adventitia (J:130890)
• mice often exhibit a distended ileum due to luminal narrowing (J:130890)
• mice often exhibit a distended ileum due to luminal narrowing (J:130890)
• mice often exhibit a distended stomach due to luminal narrowing (J:130890)
• mice often exhibit a distended stomach due to luminal narrowing (J:130890)

tumorigenesis
• mice exhibit a large whitish, linear tumor that almost entirely replace the cecum (J:130890)
• mice develop cecal tumors at any age (J:130890)
• mice exhibit a large whitish, linear tumor that almost entirely replace the cecum (J:130890)
• mice develop cecal tumors at any age (J:130890)

reproductive system
N
• unlike mice carrying other alleles of this gene, mice exhibit normal spermatogenesis (J:130890)
• unlike mice carrying other alleles of this gene, mice exhibit normal spermatogenesis (J:130890)

Mouse Models of Human Disease
OMIM ID Ref(s)
Gastrointestinal Stromal Tumor; GIST 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
02/02/2016
MGI 6.02
The Jackson Laboratory