| Primary Identifier | MGI:6305115 | Allele Type | Chemically induced (ENU) |
| Attribute String | Not Specified | Gene | Hcn2 |
| Inheritance Mode | Recessive | Strain of Origin | C57BL/6J |
| Is Recombinase | false | Is Wild Type | false |
| description | https://mutagenetix.utsouthwestern.edu/phenotypic/phenotypic_rec.cfm?pk=4268 |
| molecularNote | ENU-induced T to A transversion at base pair 79,729,113 (v38) on chromosome 10, or base pair 12,480 in the GenBank genomic region NC_000076 within the splice donor site of intron 4 (2-base pairs from exon 4 out of 8 total exons). 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 splice site in intron 4. The resulting transcript would have a 90-base pair insertion of intron 4, which would cause an in-frame insertion of 30 aberrant amino acids after amino acid 452 of the protein (which is normally 863 amino acids long). |
