ENU-induced A to G transition at base pair 71,678,773 (v38) on chromosome 8, or base pair 2,391 in the GenBank genomic region NC_000074 encoding Jak3. The mutation corresponds to residue 491 in the mRNA sequence NM_010589 within exon 3 of 25 total exons. The mutation results in an aspartic acid to glycine substitution at position 94 (D94G) in the JAK3 protein. (J:272401)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count