ENU-induced C to A transition at base pair 101,792,023 (v38) on chromosome 4, or base pair 74,890 in the GenBank genomic region NC_000070. The mutation corresponds to residue 3,172 in the mRNA sequence NM_146146 within exon 18 of 19 total exons. The mutation results in a proline to threonine substitution at position 874 (P874T) in the LEPR protein. (J:267679)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count