ENU mutagenesis induced a T to A transversion at base pair 117,615,238 (v38) on chromosome 8, or base pair 116,948 in the GenBank genomic region NC_000074 encoding Plcg2. The mutation corresponds to residue 3,532 in the mRNA sequence NM_172285 within exon 4 of 33 total exons. The mutation results in a tryptophan (W) to arginine (R) substitution at position 1113 (W1113R) in the phospholipase C gamma 2 (PLCgamma-2) protein. (J:218966)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count