Alms1^m6Btlr

A to T transversion at base pair 85,620,369(v38) on chromosome 6, or base pair 32,871 in the GenBank genomic regionNC_000072encodingAlms1. The mutation corresponds to residue 2,291 in the NM_145223 mRNA sequence in exon 8 of 23 total exons. The mutation results in substitution of arginine 726 for a premature stop codon (R726*) in the ALMS1 protein. (J:274969)