ENU-induced C to A transversion at base pair 101,815,201 (v38) on chromosome 4, or base pair 98,068 in the GenBank genomic region NC_000070. The mutation corresponds to residue 3,973 in the mRNA sequence NM_146146 within exon 19 of 19 total exons. The mutation results in a glutamine to lysine substitution at position 1,141 (Q1141K) in the LEPR protein. (J:274729)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count