ENU-induced A to T transversion at base pair 19,957,139 (v38) on chromosome 16, or base pair 25,911 in the GenBank genomic region NC_000082 encoding Klhl6. The mutation corresponds to residue 714 in the mRNA sequence NM_183390 within exon 3 of 7 total exons. The mutation results in an aspartic acid (D) to valine (V) substitution at position 233 (D223V) in the KLHL6 protein. (J:265168)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count