|  Help  |  About  |  Contact Us

Allele : Nlrp3<tm1Wstr> NLR family, pyrin domain containing 3; targeted mutation 1, Warren Strober

Primary Identifier  MGI:3850069 Allele Type  Targeted
Attribute String  Conditional ready Gene  Nlrp3
Transmission  Germline Strain of Origin  C57BL/6
Is Recombinase  false Is Wild Type  false
molecularNote  A arginine-to tryptophan mutation was introduced into the codon encoding the 258 amino acid (R258W). This corresponded to the R260W mutation in the human NLRP3 gene associated with the autoinflammatory condition known as Muckle-Wells syndrome. The CGA codon in the third exon of the locus was changed to TGG by homologous recombination. A FRT-flanked neomycin cassette and a loxP site were included upstream of exon 3 with an additional loxP site included downstream of the exon. Immunoblotting and quantitative RT-PCR of macrophages demonstrated mutant gene expression is similar to endogenous levels. Expression of cre recombinase was predicted to create a null allele by excising exon 3 and causing frameshift mutation.
  • mutations:
  • Nucleotide substitutions,
  • Insertion
  • synonyms:
  • Nlrp3<R258W>,
  • Nlrp3<R258W>
Quick Links:
 
Quick Links:
 

1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

0 Driven By

14 Publication categories