Nlrp3^tm3.1Hhf
Targeted Allele Detail

Summary

• Symbol: Nlrp3^tm3.1Hhf
• 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: Nlrp3^tm3.1Hhf page

Nlrp3^tm3.1Hhf/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 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). Cre-mediated recombination removed the neo cassette and allowed for the expression of the knock-in allele. (J:202147)

Generation of the Nlrp3^tm3.1Hhf allele

Disease models

Expression

In Structures Affected by this Mutation:

10 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: 64 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)