Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | Notes | References

Symbol:	Sox10Dom
Name:	SRY (sex determining region Y)-box 10; dominant megacolon
MGI ID:	MGI:1857401
Synonyms:	Dom
Gene:	Sox10  Location: Chr15:79039113-79048690 bp, - strand  Genetic Position: Chr15, 37.7 cM
Alliance:	Sox10Dom page

Strain of Origin:

C57BL/6JLe

Allele Type:    Spontaneous (Dominant negative) Mutations:    Insertion, Single point mutation   Mutation details: Duplication of a G residue (C in forward strand) in the GGGG sequence overlapping codons G193 and E194 results in a translational frame shift in the postulated CDS, changing glutamic acid codon 194 to a glycine codon and replacing the putative activation domain with 99 novel amino acids ahead of a premature translational termination signal. Northern analysis using a Sox10 cDNA probe detected reduced amounts of transcript in E12.5 and E16.5 homozygous mutant embryos, compared to wild-type embryos (J:45117). A c.32A>T transversion in the CDS is predicted to cause a substitution of glutamate with valine at postion 11 (p.E11V). Whole mount in situ hybridization studies of homozygous mutant E10.5 embryos did not detect Sox10 expression in cranial ganglia and nerves, detected reduced expression along motor nerves, and detected expression in the trunk neural crest-derived dorsal root ganglia. In situ hybridization studies did not detect expression in intestine of homozygous mutant E14.5 embryos. (J:47640). In situ hybridization studies of E11.5 homozygous mutant embryos detected reduced numbers of cells that express the mutant allele in dorsal root ganglia and along the spinal nerves (J:67383). (J:45117, J:47640) Inheritance:    Semidominant

View phenotypes and curated references for all genotypes (concatenated display).

In Mice Carrying this Mutation:	160 assay results
In Structures Affected by this Mutation:	16 anatomical structure(s)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Sox10 Mutation:	33 strains or lines available

Original:	J:13909 Lane PW, Dominant megacolon (Dom). Mouse News Lett. 1982;66:66
All:	25 reference(s)