ENU-induced T to A transversion at base pair 11,000,855 (v38) on chromosome 15, or base pair 135 in the GenBank genomic region NC_000081 encoding Slc45a2. The mutation corresponds to residue 135 in the mRNA sequence NM_053077 within exon 1 of 7 total exons. The mutation results in substitution of tyrosine 13 for a premature stop codon (Y13*) in the SLC45A2 protein. (J:265205)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count