ENU-induced A to T transversion at base pair 138,083,567 (v38) on chromosome 1, or base pair 92,190 in the GenBank genomic region NC_000067 encoding Ptprc. The mutation corresponds to residue 1,960 in the mRNA sequence NM_011210 within exon 19 of 30 total exons. The mutation results in an asparagine to isoleucine substitution at position 747 (N747I) in variant 1 of the CD45 protein, an N608I substitution in variant 2, and an N584I substitution in variant 3. (J:272777)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count