ENU-induced A to G transition at base pair 117,612,978 (v38) on chromosome 8, or base pair 114,704 in the GenBank genomic region NC_000074 encoding Plcg2. The mutation corresponds to residue 3,328 in the mRNA sequence NM_172285 within exon 28 of 33 total exons. The mutation results in a methionine to valine substitution at position 1,043 (M1043V) in the phospholipase C gamma 2 (PLC-2) protein. (J:272862)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count