Pax2^Opdc

A single nucleotide change, a T-to-C transition in exon 2 at position 119 (numbering from RefSeq entry NM_011037.3), is present in the Opdc allele and is absent from the three background strains. This causes a non-conservative missense mutation, I40T, exchanging the hydrophobic amino acid isoleucine for the nucleophilic and hydrophilic amino acid threonine. The affected isoleucine is located in the first a-helix of the N-terminal subdomain of the DNA-binding paired domain and is conserved both among other members of the PAX family of transcription factors and across species. (J:166924)