ENU-induced T to A transversion at base pair 141,395,158 (v38) on chromosome 4, or base pair 3,549 in the GenBank genomic region NC_000070 encoding Clcnka. The mutation corresponds to residue 592 in the mRNA sequence NM_024412 within exon 6 of 20 total exons. The mutation results in substitution of tyrosine 179 for a premature stop codon (Y179*). (J:271974)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count