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Allele : Nlrp3<tm3.1Hhf> NLR family, pyrin domain containing 3; targeted mutation 3.1, Hal M Hoffman

Primary Identifier  MGI:5517707 Allele Type  Targeted
Attribute String  Humanized sequence Gene  Nlrp3
Transmission  Germline Strain of Origin  129
Is Recombinase  false Is Wild Type  false
molecularNote  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.
  • mutations:
  • Insertion,
  • Single point mutation
  • synonyms:
  • D301N NLRP3,
  • NOMID,
  • NOMID,
  • D301N NLRP3
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

0 Driven By

7 Publication categories

Trail: Allele