Nlrp3^tm2Hhf
Targeted Allele Detail

Summary

• Symbol: Nlrp3^tm2Hhf
• Name: NLR family, pyrin domain containing 3; targeted mutation 2, Hal M Hoffman
• MGI ID: MGI:3850013
• Synonyms: Nlrp3^L351PneoR
• Gene: Nlrp3 Location: Chr11:59432395-59457781 bp, + strand Genetic Position: Chr11, 37.73 cM, cytoband B1.3
• Alliance: Nlrp3^tm2Hhf page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:150054
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129/Sv

Mutation description

• Allele Type: Targeted (Conditional ready, Humanized sequence, No functional change)
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: The leucine 353 to proline human mutation associated with familial cold autoinflammatory syndrome was produced in mice by changing the equivalent leucine at position 351 to a proline (L351P). A floxed neomycin cassette was inserted in the reverse orientation into intron 2, which is upstream of the point mutation in exon 3. Sequence analysis of transcripts isolated from heterozygote mice demonstrate the mutant allele is not expressed due to the presence of the neomycin cassette. In the presence of cre recombinase, the neomycin cassette is removed and the mutant allele is expressed. (J:150054)

Disease models

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Nlrp3 Mutation: 61 strains or lines available

References

• Original: J:150054 Brydges SD, et al., Inflammasome-mediated disease animal models reveal roles for innate but not adaptive immunity. Immunity. 2009 Jun 19;30(6):875-87
• All: 18 reference(s)