Pax6^3Neu

The mutation was identified as the insertion of single nucleotide (A) In exon 7 following Nucleotide 598. The frameshift results in normal protein through codon 145 of exon 7 followed by 12 aberrant amino acids and a premature stop codon. The linker region, homeodomain, and P/S/T domains are all deleted in the resulting protein. (J:73625)