ENU-induced G to A transition at base pair 19,957,028 (v38) on chromosome 16, or base pair 26,082 in the GenBank genomic region NC_000082 encoding Klhl6. The mutation corresponds to residue 885 in the mRNA sequence NM_183390 within exon 3 of 7 total exons. The mutation results in an arginine to histidine substitution at position 260 (R260H) in the KLHL6 protein. (J:272396)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count