ENU-induced A to G transition at base pair 70,567,833 (v38) on chromosome 14, or base pair 13,778 in the GenBank genomic region NC_000080 encoding Hr. The mutation corresponds to residue 3,708 in the mRNA sequence NM_021877 within exon 16 of 20 total exons. The mutation results in an aspartic acid to glycine substitution at position 1,005 (D1005G) in the HR protein. (J:264680)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count