Mouse Genome Informatics
involves: 129S6/SvEvTac * C57BL/6 * FVB/N
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
• 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

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

Mouse Models of Human Disease
Gastrointestinal Stromal Tumor; GIST 606764 J:130890