ENU-induced T to A transversion at base pair 101,765,305 (v38) on chromosome 4, or base pair 48,018 in the GenBank genomic region NC_000070. The mutation corresponds to residue 1,832 in the mRNA sequence NM_146146 within exon 9 of 19 total exons. The mutation results in an aspartic acid to glutamic acid substitution at position 427 (D427E) in the LEPR protein. (J:272857)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count