ENU-induced T to C transition at base pair 125,567,221 (v38) on chromosome 7, or base pair 14,940 in the GenBank genomic region NC_000073. The mutation corresponds to residue 377 in the mRNA sequence NM_001008700 within exon 4 of 11 total exons. The mutation results in a tryptophan to arginine substitution at position 46 (W46R) in the IL-4R protein. (J:267558)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count