Alms1^m4Btlr

ENU-induced T to C transition at base pair 85,619,712 (v38) on chromosome 6, or base pair 32,214 in the GenBank genomic region NC_000072 encoding Alms1. The mutation corresponds to residue 1,634 in the NM_145223 mRNA sequence in exon 8 of 23 total exons. The mutation results in a serine to proline substitution at amino acid 507 (S507P) in the ALMS1 protein. (J:267551)