Pax3^Sp-1Xzg

ENU mutagenesis induces an A to G substitution that results in the amino acid substitution of aspartic acid for asparagine at position 269 (N269D). A synonymous mutation in exon 7 (C1154T) does not alter protein sequence. Western blot analysis confirmed the absence of protein expression in E13.5 embryo extracts. (J:196566)