Smcr8^m2Btlr

A to G transition at base pair 60,778,028 (v38) on chromosome 11, or base pair 504 in the GenBank genomic region NC_000077 encoding Smcr8. The mutation corresponds to residue 504 (c.504A>G) in the mRNA sequence NM_001085440.1 within exon 1 of 2 total exons. The mutation results in a methionine (M) to valine (V) substitution at position 1 (M1V) in the SMCR8 protein (p.M1V). (J:268243)