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Nlrp3tm2Hhf
Targeted Allele Detail
Nomenclature
Symbol: Nlrp3tm2Hhf
Name: NLR family, pyrin domain containing 3; targeted mutation 2, Hal M Hoffman
MGI ID: MGI:3850013
Synonyms: Nlrp3L351PneoR
Gene: Nlrp3  Location: Chr11:59541568-59566955 bp, + strand  Genetic Position: Chr11, 37.73 cM, cytoband B1.3
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 detailsThe 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)
Phenotypes
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View phenotypes for all genotypes (concatenated display).
Disease models
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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:  8 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:  2 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
06/23/2015
MGI 5.22
The Jackson Laboratory