ENU-induced A to G transition at base pair 34,262,388 (v38) on chromosome 11, or base pair 521,522 in the GenBank genomic region NC_000077 for Dock2. The mutation corresponds to residue 3,834 in the mRNA sequence NM_178666 within exon 37 of 52 total exons. The mutation results in a lysine to arginine substitution at position 1,251 (K1251R) in the DOCK2 protein. (J:272437)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count