ENU-induced T to G transversion at base pair 138,067,890 (v38) on chromosome 1, or base pair 107,867 in the GenBank genomic region NC_000067 encoding Ptprc. The mutation corresponds to residue 3,508 in the mRNA sequence NM_001111316 within exon 31 of 33 total exons. The mutation results in a cysteine to glycine substitution at position 1,157 (C1157G) in variant 1 of the CD45 protein. (J:265186)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count