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. |