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Allele : Nlrp3<tm2Hhf> NLR family, pyrin domain containing 3; targeted mutation 2, Hal M Hoffman

Primary Identifier  MGI:3850013 Allele Type  Targeted
Attribute String  Conditional ready, Humanized sequence, No functional change Gene  Nlrp3
Transmission  Germline Strain of Origin  129/Sv
Is Recombinase  false Is Wild Type  false
molecularNote  The leucine 353 to proline human mutation associated with familial cold autoinflammatory syndrome was produced in mice by changing the equivalent leucine at position 351 to a proline (L351P). A floxed neomycin cassette was inserted in the reverse orientation into intron 2, which is upstream of the point mutation in exon 3. Sequence analysis of transcripts isolated from heterozygote mice demonstrate the mutant allele is not expressed due to the presence of the neomycin cassette. In the presence of cre recombinase, the neomycin cassette is removed and the mutant allele is expressed.
  • mutations:
  • Insertion,
  • Nucleotide substitutions
  • synonyms:
  • Nlrp3<L351PneoR>,
  • Nlrp3<L351PneoR>
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

2 Carried By

0 Driven By

23 Publication categories