ENU-induced G to A transition at base pair 94,387,193 (v38) on chromosome 3, or base pair 14,479 in the GenBank genomic region NC_000069. The mutation corresponds to residue 241 in the mRNA sequence NM_011281 within exon 3 of 11 total exons and residue x in the mRNA sequence NM_001293734 within exon 2 of 10 total exons. The mutation results in a cysteine (C) to tyrosine (Y) substitution at position 48 (C48Y) in the RAR-related orphan receptor gamma (RORgamma1) protein and a cysteine to tyrosine substitution at position 27 in the RORgammat protein. (J:234257)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count