Sox10^Dom
Spontaneous Allele Detail

Summary

• Symbol: Sox10^Dom
• 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: Sox10^Dom page

Mutation origin

• Strain of Origin: C57BL/6JLe

Mutation description

• 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

Disease models

Expression

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

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: 33 strains or lines available

Notes

Genbank ID for this mutation: AF047389
Protein produced is a truncation that acts as a dominant negative see J:160219

References

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