| Primary Identifier | MGI:6268374 | Allele Type | Chemically induced (ENU) |
| Attribute String | Not Specified | Gene | Fa2h |
| Inheritance Mode | Dominant | Strain of Origin | C57BL/6J |
| Is Recombinase | false | Is Wild Type | false |
| Project Collection | Beutler Mutagenetix |
| molecularNote | ENU-induced T to C transition at base pair 111,355,398 (v38) on chromosome 8, or base pair 38,424 in the GenBank genomic region NC_000074 encoding the Fa2h gene, within the donor splice site of intron 4. The effect of the mutation at the cDNA and protein level have not examined, but the mutation is predicted to result in skipping of the 107-base pair exon 4 (out of 7 total exons), resulting in a frame-shift after amino acid 168 of the encoded protein, and premature termination after the inclusion of 0 aberrant amino acids. |
