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Spontaneous Allele Detail
Symbol: Sox10Dom
Name: SRY (sex determining region Y)-box 10; dominant megacolon
MGI ID: MGI:1857401
Synonyms: Dom
Gene: Sox10  Location: Chr15:79154913-79164490 bp, - strand  Genetic Position: Chr15, 37.7 cM
Strain of Origin:  C57BL/6JLe
Allele Type:    Spontaneous
Mutations:    Insertion, Single point mutation
Mutation detailsInsertion of a guanine residue is predicted to result in a translational frame shift in the postulated ORF, replacing the putative activation domain with 99 novel amino acids ahead of a 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). An A32T transversion in the ORF is predicted to cause a substitution of glutamate by valine. 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)
Inheritance:    Semidominant
View phenotypes for all genotypes (concatenated display).
In Mice Carrying this Mutation: 3 assay results
Find Mice (IMSR)
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:  16 strains or lines available
Genbank ID for this mutation: AF047389

Original:  J:13909 Lane PW, Dominant megacolon (Dom). Mouse News Lett. 1982;66:66
All:  22 reference(s)

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MGI 6.03
The Jackson Laboratory