Oca2^p-Btlr

The snowflake mutation corresponds to a C-to-T transition at nucleotide position 1506, in the 14th of 24 total exons, resulting in replacement of proline by leucine at amino acid 459 of the protein (P458L), in a highly conserved lumenal segment between the 5th and 6th transmembrane domains. (J:133621)