Primary Identifier | MGI:2156812 | Allele Type | Chemically induced (ENU) |
Gene | Pax6 | Strain of Origin | (102 x C3H)F1 |
Is Recombinase | false | Is Wild Type | false |
description | Genbank Accession ID: Y19193 |
molecularNote | 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. |