ENU-induced G to T transversion at base pair 138,113,678 (v38) on chromosome 1, or base pair 62,079 in the GenBank genomic region NC_000067 encoding Ptprc. The mutation corresponds to residue 751 in the mRNA sequence NM_001111316 within exon 9 of 33 total exons, residue 432 in the mRNA sequence NM_011210 within exon 6 of 30 total exons, and residue 360 in the mRNA sequence NM_001268286 within exon 5 of 29 total exons. The mutation results in substitution of glutamic acid 238 for a premature stop codon (E238*) in variant 1 of the CD45 protein, a E99* substitution in variant 2, and a E75* substitution in variant 3. (J:267486)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count