ENU-induced G to A transition at base pair 138,067,885 (v38) on chromosome 1, or base pair 107,872 in the GenBank genomic region NC_000067 encoding Ptprc. The effect of the mutation at the cDNA and protein levels has not been examined, but the mutation is predicted to result in the use of a cryptic site in intron 31. The resulting transcript has 29-base pair insertion of intron 31, which would cause an in-frame insertion of 10 aberrant amino acids after amino acid 1099 of the protein (which is normally 1293 amino acids long). (J:274863)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count