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Targeted Allele Detail
Symbol: Nlrp3tm1Wstr
Name: NLR family, pyrin domain containing 3; targeted mutation 1, Warren Strober
MGI ID: MGI:3850069
Synonyms: Nlrp3R258W
Gene: Nlrp3  Location: Chr11:59541568-59566955 bp, + strand  Genetic Position: Chr11, 37.73 cM, cytoband B1.3
Germline Transmission:  Earliest citation of germline transmission: J:150053
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  C57BL/6
Allele Type:    Targeted (Conditional ready)
Mutations:    Insertion, Nucleotide substitutions
Mutation detailsA 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. (J:150053)
View phenotypes for all genotypes (concatenated display).
Disease models
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Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Nlrp3 Mutation:  8 strains or lines available
Original:  J:150053 Meng G, et al., A mutation in the Nlrp3 gene causing inflammasome hyperactivation potentiates Th17 cell-dominant immune responses. Immunity. 2009 Jun 19;30(6):860-74
All:  5 reference(s)

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MGI 6.01
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