ENU-induced T to C transition at base pair 25,149,831 (v38) on chromosome 19, or base pair 150,321 in the GenBank genomic region NC_000085 encoding Dock8. The mutation corresponds to residue 3,294 in the mRNA sequence NM_028785 within exon 26 of 48 total exons. The mutation results in a tyrosine to histidine substitution at position 1,058 (Y1058H) in the DOCK8 protein. (J:272531)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count