Primary Identifier | MGI:4949224 | Allele Type | Targeted |
Attribute String | Humanized sequence | Gene | C1qtnf5 |
Transmission | Germline | Strain of Origin | C57BL/6 |
Is Recombinase | false | Is Wild Type | false |
molecularNote | A loxP site was inserted upstream of exon 2. Exon 3 was replaced with one in which a C to G transversion and a neo cassette flanked with FRT and loxP sites. Flp-mediated recombination removed the neo cassette. The point mutation replaces serine with an arginine at position 163 (S163R). This mutation corresponds with the human mutation associated with late-onset retinal macular degeneration (L-ORD). |