Alms1^m3Btlr

ENU-induced C to T transition at base pair 85,627,934 (v38) on chromosome 6, or base pair 40,436 in the GenBank genomic region NC_000072 encoding Alms1. The mutation corresponds to residue 5,273 in the NM_145223.2 (c.5273C>T) mRNA sequence in exon 10 of 23 total exons. The mutation results in substitution of glutamine 1,720 to a premature stop codon (p.Q1720*) in the ALMS1 protein. (J:264649)