ENU-induced T to A transversion at base pair 133,012,651 (v38) on chromosome 1, or base pair 17,937 in the GenBank genomic region NC_000067 encoding Mdm4. The mutation corresponds to residue 416 in the mRNA sequence NM_008575 within exon 4 of 12 total exons. The mutation results in a phenylalanine to isoleucine substitution at amino acid 47 (F47I) in the MDM4 protein. (J:265262)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count