Mutation of the Sry-related <i>Sox10</i> gene in <i>Dominant megacolon</i> , a mouse model for human Hirschsprung disease

Abstract excerpt

The spontaneous mouse mutant Dominant megacolon (Dom) is a valuable model for the study of human congenital megacolon (Hirschsprung disease). Here we report that the defect in the Dom mouse is caused by mutation of the gene encoding the Sry-related transcription factor Sox10. This assignment is based on (i) colocalization of the Sox10 gene with the Dom mutation on chromosome 15; (ii) altered Sox10 expression in...

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