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Nlrp3tm3.1Hhf
Targeted Allele Detail
Nomenclature
Symbol: Nlrp3tm3.1Hhf
Name: NLR family, pyrin domain containing 3; targeted mutation 3.1, Hal M Hoffman
MGI ID: MGI:5517707
Synonyms: D301N NLRP3, NOMID
Gene: Nlrp3  Location: Chr11:59541568-59566955 bp, + strand  Genetic Position: Chr11, 37.73 cM, cytoband B1.3
Nlrp3tm3.1Hhf/Nlrp3+ mice exhibit stunted skeletal growth and reduced bone mass

Show the 6 phenotype image(s) involving this allele.

Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:202147
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  129
Mutation
description
Allele Type:    Targeted (Humanized sequence)
Mutations:    Insertion, Single point mutation
 
Mutation detailsA targeting vector was designed to insert a loxP-flanked neomycin resistance (neo) cassette, in reverse orientation to the gene, into intron 2. A point mutation was introduced into exon 3, corresponding to human amino acid 303, resulting in a missense mutation, D301N, commonly found in humans with cryopyrin-associated periodic syndromes (CAPS). Cre-mediated recombination removed the neo cassette and allowed for the expression of the knock-in allele. (J:202147)
Generation of the Nlrp3tm3.1Hhf allele
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 11 anatomical structures
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:  34 strains or lines available
References
Original:  J:202147 Bonar SL, et al., Constitutively activated NLRP3 inflammasome causes inflammation and abnormal skeletal development in mice. PLoS One. 2012;7(4):e35979
All:  1 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
05/15/2018
MGI 6.12
The Jackson Laboratory