Abstract：
:RPE65 is essential for both rod- and cone-mediated vision. So far, more than 120 disease-associated mutations have been identified in the human RPE65 gene. Differential clinical manifestations suggested that some patients suffer from null mutations while others retain residual RPE65 activity and some useful vision. To understand the mechanism of retinal degeneration or dysfunction caused by such hypomorphic RPE65 alleles, we generated an Rpe65 (R91W) knock-in mouse (R91W) that expresses a mutant RPE65 protein with reduced function. Data obtained suggested that the R91W mouse is highly suitable to study the impact of RPE65 insufficiency on rod pathophysiology. To study the impact on cones, we combined the R91W with the Nrl (-/-) mouse that develops an all-cone retina. Here we summarize the consequences of hypomorphic RPE65 function (reduced 11-cis-retinal synthesis) for rod and cone pathophysiology.
journal_name
Adv Exp Med Bioljournal_title
Advances in experimental medicine and biologyauthors
Samardzija M,Barben M,Geiger P,Grimm Cdoi
10.1007/978-3-319-17121-0_45subject
Has Abstractpub_date
2016-01-01 00:00:00pages
341-6eissn
0065-2598issn
2214-8019journal_volume
854pub_type
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