Summary | Mutation origin | Mutation description | Phenotypes | Find Mice (IMSR) | References

Symbol:	Nlrp3tm3Hhf
Name:	NLR family, pyrin domain containing 3; targeted mutation 3, Hal M Hoffman
MGI ID:	MGI:5308094
Synonyms:	Nlrp3D301NneoR
Gene:	Nlrp3  Location: Chr11:59432395-59457781 bp, + strand  Genetic Position: Chr11, 37.73 cM, cytoband B1.3
Alliance:	Nlrp3tm3Hhf page

Germline Transmission:	Earliest citation of germline transmission: J:202147
Parent Cell Line:	Not Specified (ES Cell)
Strain of Origin:	129

Allele Type:    Targeted (Conditional ready, Humanized sequence, No functional change) Mutations:    Insertion, Single point mutation   Mutation details: A 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). (J:202147)

View phenotypes and curated references for all genotypes (concatenated display).

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

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:	11 reference(s)