ENU-induced T to A transversion at base pair 138,071,249 (v38) on chromosome 1, or base pair 104,508 in the GenBank genomic region NC_000067 encoding Ptprc. The mutation corresponds to residue 3,101 in the mRNA sequence NM_001111316 within exon 29 of 33 total exons. The mutated nucleotide is indicated in red. The mutation results in a methionine to lysine substitution at position 1,021 (M1021K) in variant 1 of the PTPRC protein. (J:265143)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count