| Primary Identifier | MGI:6285549 | Allele Type | Chemically induced (ENU) |
| Attribute String | Not Specified | Gene | Itgam |
| 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=3758 |
| molecularNote | ENU-induced A to G transition at base pair 128,112,286 (v38) on chromosome 7, or base pair 49,647 in the GenBank genomic region NC_000073 within the splice donor site of intron 17 (4-base pairs from exon 17 [out of 30 total exons]. The effect of the mutation at the cDNA and protein level have not examined, but the mutation is predicted to result in the use of a cryptic site in intron 17. The resulting transcript would have a 62-base pair insertion of intron 17, which would cause a frame-shifted protein product beginning after amino acid 720 of the protein (normally 1,154 amino acids in length) and termination after the inclusion of 18 aberrant amino acids. |
