ENU-induced T to A transversion at base pair 19,948,127 (v38) on chromosome 16, or base pair 34,923 in the GenBank genomic region NC_000082 encoding Klhl6. The mutation corresponds to residue 1,562 in the mRNA sequence NM_183390 within exon 6 of 7 total exons. The mutation results in a cysteine to serine substitution at position 506 (C506S) in the KLHL6 protein. (J:272394)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count