Pax6^2Neu

The mutation was identified as a T to C substitution at nucleotide position 2 of the intron 9 donor splice site. The isolated cDNA was 87 bp longer than wild-type due to the destruction of the endogenous splice site and the use of a cryptic splice site. The resulting protein was wild-type up to codon 269 of exon 9 and included 23 amino acids and a stop codon from the inclusive inton. The mutation resides in the homeobox region of the protein. (J:73625)