Nlrp3^tm1Wstr
Targeted Allele Detail

Summary

• Symbol: Nlrp3^tm1Wstr
• Name: NLR family, pyrin domain containing 3; targeted mutation 1, Warren Strober
• MGI ID: MGI:3850069
• Synonyms: Nlrp3^R258W
• Gene: Nlrp3 Location: Chr11:59432395-59457781 bp, + strand Genetic Position: Chr11, 37.73 cM, cytoband B1.3
• Alliance: Nlrp3^tm1Wstr page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:150053
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Targeted (Conditional ready)
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: 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. (J:150053)

Expression

In Structures Affected by this Mutation:

5 anatomical structure(s)

Find Mice (IMSR)

• 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: 61 strains or lines available

References

• 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: 10 reference(s)