ENU-induced T to C transition at base pair 60,912,491 (v38) on chromosome 1, or base pair 3,467 in the GenBank genomic region NC_000067. The mutation corresponds to residue 324 in the mRNA sequence NM_009843 within exon 2 of 4 total exons. The mutation results in a tyrosine to histidine substitution at position 60 (Y60H) in the CTLA4 protein. (J:265263)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count