ENU-induced T to A transversion at base pair 66,859,180 (v38) on chromosome 18, or base pair 1,308 in the GenBank genomic region NC_000084 for the Mc4r gene. The mutation corresponds to residue 1,308 in the mRNA sequence NM_016977 within exon 1 of 1 total exons. The mutation results in substitution of tyrosine 287 for a premature stop codon (Y287*). (J:265170)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count