ENU-induced T-to-A transversion at base pair 121,270,319 (GRCm38) on chromosome 2, or base pair 20,007 in the GenBank genomic region NC_000068 within intron 2 (10 base pairs from exon 3). 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 2. The resulting transcript would have a 60-base pair insertion of intron 2, which would cause an in-frame insertion of 19 aberrant amino acids beginning after amino acid 64. (J:254848)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count