| First Author | Hawes NL | Year | 2004 |
| Journal | Invest Ophthalmol Vis Sci | Volume | 45 |
| Issue | 13 | Pages | 3590 |
| Mgi Jnum | J:167196 | Mgi Id | MGI:4867447 |
| Citation | Hawes NL, et al. (2004) A New Mouse Model Of Cone Photoreceptor Function Loss (Cpfl4). Invest Ophthalmol Vis Sci 45(13):3590 |
| abstractText | Purpose:To characterize the genetics and phenotype of a new mouse mutant with a progressive cone function loss, Cpfl4, that is associated with retinal white spots seen ophthalmoscopically. Methods: We have identified a new mouse model of a progressive cone electroretinographic photopic functional loss with retinal spots by screening mouse strains and stocks at The Jackson Laboratory for genetic mouse models of human ocular disorders. We characterized the clinical effects of this mutation using serial electroretinography (ERG), fundus photography, and histology, and performed genetic analysis including linkage studies. Results: This new mutation has been named cone photoreceptor function loss 4 (Cpfl4) since it is the fourth mutation in mice to affect cone function with dominant inheritance. Mice carrying the Cpfl4 mutation show retinal spots around the optic head at 5 months of age. The spots areas extend with age and cover the entire retina by 7 months of age. The coneÐmediated photoresponses start to decrease at 1 month of age and are gone by 4 months of age, but rodÐmediated photoresponses are normal from 3 weeks to 8 months of age. Histological results show large waves and rosettes in the central retina at 8 months of age. Genetic analysis shows that this disorder is caused by an autosomal dominant mutation that maps to mouse Chromosome 17. Conclusions: The phenotypic characteristics of Cpfl4 mice are similar to those observed in patients with incomplete achromatopsia and progressive cone dystrophy and this mutant may provide a mouse model for these diseases. Keywords: electroretinography: nonÐclinical ° gene mapping ° retina |
