| Primary Identifier | MGI:6285492 | Allele Type | Chemically induced (ENU) |
| Attribute String | Not Specified | Gene | Tg |
| Inheritance Mode | Recessive | Strain of Origin | C57BL/6J |
| Is Recombinase | false | Is Wild Type | false |
| Project Collection | Beutler Mutagenetix |
| description | https://mutagenetix.utsouthwestern.edu/phenotypic/phenotypic_rec.cfm?pk=3854 |
| molecularNote | ENU-induced G to A transition at base pair 66,758,006 (v38) on chromosome 15, or base pair 87,253 in the GenBank genomic region NC_000081 within the donor splice site of intron 36 (1-base pair from exon 36 [out of 48 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 skipping of the 135-base pair exon 36. The mutation would cause an in-frame deletion of 45 amino acids after amino acid 2,085; the wild-type protein is normally 2,766 amino acids in length. |
