Sox10^tm8.1Weg
Targeted Allele Detail

Summary

• Symbol: Sox10^tm8.1Weg
• Name: SRY (sex determining region Y)-box 10; targeted mutation 8.1, Michael Wegner
• MGI ID: MGI:6154154
• Synonyms: Sox10^377X
• Gene: Sox10 Location: Chr15:79039113-79048690 bp, - strand Genetic Position: Chr15, 37.7 cM
• Alliance: Sox10^tm8.1Weg page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:260791
• Parent Cell Line: E14.1 (ES Cell)
• Strain of Origin: 129P2/OlaHsd

Mutation description

• Allele Type: Targeted (Hypomorph)
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: The complete open reading frame for the Sox10 Q377X nonsense mutation was inserted into exon 3 in such a way that the translation start for the mutant is at the wild-type position, and replaced all wild-type sequences (exons 3-5) behind the translation start. In addition, a floxed neomycin cassette was inserted into intron 2. Cre-mediated recombination removed the selection cassette, resulting in expression of the mutant protein. Western blot analysis on spinal cord tissue at E18.5 confirmed the production of a truncated protein. This mutant lacks the complete carboxyterminal transactivation domain and was predicted to interfere with the function of wild-type Sox10 and exert a domiant effect but it did not and behaves like a hypomorph with limited residual function. (J:260791)

Expression

In Structures Affected by this Mutation:

3 anatomical structure(s)

Find Mice (IMSR)

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

References

• Original: J:260791 Truch K, et al., Analysis of the human SOX10 mutation Q377X in mice and its implications for genotype-phenotype correlation in SOX10-related human disease. Hum Mol Genet. 2018 Mar 15;27(6):1078-1092
• All: 1 reference(s)