Sox10^tm8.1Weg

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)