ENU-induced T to A transversion at base pair 19,957,043 (v38) on chromosome 16, or base pair 26,007 in the GenBank genomic region NC_000082 encoding Klhl6. The mutation corresponds to residue 810 in the mRNA sequence NM_183390 within exon 3 of 7 total exons. The mutation results in a valine to aspartic acid substitution at position 255 (V255D) in the KLHL6 protein. (J:267699)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count