| Primary Identifier | MGI:6117465 | Allele Type | Targeted |
| Attribute String | Humanized sequence | Gene | Eif2b4 |
| Transmission | Germline | Strain of Origin | C57BL/6 |
| Is Recombinase | false | Is Wild Type | false |
| molecularNote | A C to T point mutation was introduced at position 1450 in exon 13 resulting in a tryptophan substitution for arginine at amino acid 484. In addition, a loxP site downstream of exon 12, a FRT-flanked neomycin cassette and a loxP site in exon 13 were introduced upstream of the mutation. This mutation corresponds to c.1447C>T, pArg148Trp in humans that is associated with the most severe forms of vanishing white matter. Cre-mediated recombination removed the floxed region which includes the neomycin cassette, leaving the R484W mutation in exon 13. |
