ENU-induced T to A transversion at base pair 53,479,673 (v38) on chromosome 9, or base pair 57,144 in the GenBank genomic region NC_000075. The mutation corresponds to residue 5,739 in the mRNA sequence NM_007499 within exon 36 of 64 total exons. The mutation results in a leucine to glutamine substitution at amino acid 1,867 (L1867Q) in the ATM protein. (J:272824)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count