Primary Identifier | MGI:5309003 | Allele Type | Targeted |
Attribute String | Humanized sequence | Gene | C1qtnf5 |
Transmission | Germline | Strain of Origin | 129 |
Is Recombinase | false | Is Wild Type | false |
molecularNote | Exon 14 was replaced with a loxP site and a modified exon 14 in which a C to G transversion results in the amino acid substitution of arginine for serine at position 163 (S163R). An FRT-flanked neo cassette with a 3' loxP site was inserted downstream of the modified exon 14. This mutation is found in Late-Onset Retinal Macular Degeneration (L-ORMD) patients. Flp-mediated recombination removed the neo cassette. |