Nlrp3^{tm3.1(NLRP3*)Bhk}
Targeted Allele Detail

Summary

• Symbol: Nlrp3^{tm3.1(NLRP3*)Bhk}
• Name: NLR family, pyrin domain containing 3; targeted mutation 3.1, Beverly H Koller
• MGI ID: MGI:5910172
• Synonyms: D305N
• Gene: Nlrp3 Location: Chr11:59432395-59457781 bp, + strand Genetic Position: Chr11, 37.73 cM, cytoband B1.3
• Alliance: Nlrp3^{tm3.1(NLRP3*)Bhk} page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:241705
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129S6/SvEvTac

Mutation description

• Allele Type: Targeted (Dominant negative, Humanized sequence, Inserted expressed sequence, Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Nlrp3^{tm3.1(NLRP3*)Bhk} expresses 1 gene
  Knock-in expresses:
  

  Organism

  Expressed Gene

  Homolog in Mouse

  Note

  human

  NLRP3 (114548)

  Nlrp3

  (MGI:2653833)

  engineered with point mutation associated with cryopyrin-associated periodic syndromes (CAPS)

• Mutation details: A Replacer vector containing a mutated loxP site and a mutated human ortholog of the mouse gene was injected into Nlrp3^tm1Bhk ES cells. In these ES cells the endogenous locus was replaced with an FRT site flanked neomycin resistance gene cassette which was then removed through flp-mediated recombination. The cells also contain the same mutated loxP site as the Replacer vector. The injected ES cells were subjected to cre-mediated recombination to integrate the vector into the genome. The resulting allele corrects the null allele of the ES cells by inserting the human ortholog into the location of the endogenous gene. The human gene was engineered with a G>A point mutation changing codon 303 from aspartic acid to asparagine (p.Asp303Asn), a variant or polymorphism associated with cryopyrin-associated periodic syndromes (CAPS). The inserted gene is flanked by an upstream mutated loxP site and a downstream FRT site. Expression of the inserted sequence was confirmed by qPCR. (J:241705)

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: 66 strains or lines available

References

• Original: J:241705 Snouwaert JN, et al., An NLRP3 Mutation Causes Arthropathy and Osteoporosis in Humanized Mice. Cell Rep. 2016 Dec 13;17(11):3077-3088
• All: 1 reference(s)