Primary Identifier | MGI:3850069 | Allele Type | Targeted |
Attribute String | Conditional ready | Gene | Nlrp3 |
Transmission | Germline | Strain of Origin | C57BL/6 |
Is Recombinase | false | Is Wild Type | false |
molecularNote | A arginine-to tryptophan mutation was introduced into the codon encoding the 258 amino acid (R258W). This corresponded to the R260W mutation in the human NLRP3 gene associated with the autoinflammatory condition known as Muckle-Wells syndrome. The CGA codon in the third exon of the locus was changed to TGG by homologous recombination. A FRT-flanked neomycin cassette and a loxP site were included upstream of exon 3 with an additional loxP site included downstream of the exon. Immunoblotting and quantitative RT-PCR of macrophages demonstrated mutant gene expression is similar to endogenous levels. Expression of cre recombinase was predicted to create a null allele by excising exon 3 and causing frameshift mutation. |