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. |