Primary Identifier | MGI:5806309 | 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 A to G transition at base pair 46,338,217 (GRCm38) on chromosome 11, or base pair 51,299 in the GenBank genomic region NC_000077. The mutation corresponds to residue 1,240 in the mRNA sequence NM_001281965, within 12 of 17 exons. The mutation results in a phenylalanine to leucine substitution at position 379 (F379L) in the protein (isoform 1). |