Nlrp3tm1Wstr
Targeted Allele Detail
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Symbol: |
Nlrp3tm1Wstr |
Name: |
NLR family, pyrin domain containing 3; targeted mutation 1, Warren Strober |
MGI ID: |
MGI:3850069 |
Synonyms: |
Nlrp3R258W |
Gene: |
Nlrp3 Location: Chr11:59432395-59457781 bp, + strand Genetic Position: Chr11, 37.73 cM, cytoband B1.3
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Alliance: |
Nlrp3tm1Wstr page
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Germline Transmission: |
Earliest citation of germline transmission:
J:150053
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Parent Cell Line: |
Not Specified (ES Cell)
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Strain of Origin: |
C57BL/6
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Allele Type: |
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Targeted (Conditional ready) |
Mutations: |
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Insertion, Nucleotide substitutions
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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)
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View phenotypes and curated references for all genotypes (concatenated display).
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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
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Carrying any Nlrp3 Mutation: |
64 strains or lines available
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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: |
11 reference(s) |
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