Primary Identifier | MGI:6113416 | Allele Type | Chemically induced (ENU) |
Attribute String | Not Specified | Gene | Itk |
Inheritance Mode | Recessive | Strain of Origin | C57BL/6J |
Is Recombinase | false | Is Wild Type | false |
Project Collection | Beutler Mutagenetix |
molecularNote | ENU-induced T to G transversion at base pair 46,338,099 (v38) on chromosome 11, or base pair 51,417 in the GenBank genomic region NC_000076 within the donor splice site of intron 12. The effect of the mutation at the cDNA and protein levels have not examined, but the mutation is predicted to result in the use of a cryptic site in intron 12. The resulting transcript would have a 5-base pair insertion of intron 12, causing a frame shifted protein product beginning after amino acid 410 of the protein, which is normally 619 amino acids in length. |