ENU-induced A to G transition at base pair 9,971,585 (v38) on chromosome 8, or base pair 6,097 in the GenBank genomic region NC_000074. The mutation corresponds to residue 2,516 in the mRNA sequence NM_176953 within exon 2 of 2 total exons. The mutation results in a threonine to alanine substitution at amino acid 732 (T732A) in the LIG4 protein. (J:267692)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count