| Primary Identifier | MGI:6286064 | Allele Type | Chemically induced (ENU) |
| Attribute String | Not Specified | Gene | Itgb2 |
| 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=3759 |
| molecularNote | ENU-induced G to T transversion at base pair 77,548,536 (v38) on chromosome 10, or base pair 18,208 in the GenBank genomic region NC_000076 within intron 5, 10-base pairs from exon 6 (out of 16 total exons). The effect of the mutation at the cDNA and protein levels has not been examined, but the mutation is not predicted to affect splicing. If the mutation does affect splicing, the most likely aberrant splicing will result in the use of a cryptic site in intron 5. The resulting transcript would have a 54-base pair insertion of intron 5, which would cause a frame-shifted protein product beginning after amino acid 167 of the protein (normally 770 amino acids long) and termination after the inclusion of 34 aberrant amino acids. |
