About   Help   FAQ
Nlrp3tm3.1Hhf
Targeted Allele Detail
Summary
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: Chr11:59432395-59457781 bp, + strand  Genetic Position: Chr11, 37.73 cM, cytoband B1.3
Alliance: Nlrp3tm3.1Hhf page
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
Loading...
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
Loading...
Expression
In Structures Affected by this Mutation: 11 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:202147 Bonar SL, et al., Constitutively activated NLRP3 inflammasome causes inflammation and abnormal skeletal development in mice. PLoS One. 2012;7(4):e35979
All:  4 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
03/19/2024
MGI 6.23
The Jackson Laboratory