ENU-induced A to T transversion at base pair 117,577,874 (v38) on chromosome 8, or base pair 79,600 in the GenBank genomic region NC_000074 encoding Plcg2. The mutation corresponds to residue 1,018 in the mRNA sequence NM_172285 within exon 10 of 33 total exons. The mutation results in an isoleucine to phenylalanine substitution at position 273 (I273F) in the phospholipase C gamma 2 (PLC-2) protein. (J:265101)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count