RPE65 null mutant model of Leber's congenital amaurosis
Summary:
Analysis of retinas of RPE65 null mutants at 2, 4 and 6 months of age. RPE65 is highly expressed in retinal pigment epithelial cells. Mutations in REP65 cause 10-15% of Leber's congenital amaurosis (LCA) cases, a severe form of retinal dystrophy. Results provide insight into early LCA progression.
Cottet S, Michaut L, Boisset G, Schlecht U et al. Biological characterization of gene response in Rpe65-/- mouse model of Leber's congenital amaurosis during progression of the disease. FASEB J 2006 Oct;20(12):2036-49. PMID: 17012256
