ENU-induced G to A transition at base pair 34,256,562 (v38) on chromosome 11, or base pair 527,348 in the GenBank genomic region NC_000077 for Dock2. The mutation corresponds to residue 4,115 in the mRNA sequence NM_178666 within exon 40 of 52 total exons. The mutation results in a glycine to arginine substitution at position 1,345 (G1345R) in the DOCK2 protein. (J:272438)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count