| Aipl1-/- mice have highly disorganized, short, fragmented photoreceptor outer segments and lack both rod and cone electroretinogram responses | |
knockdown of AIPL1 expression in mice produces a retinopathy with a reduction in the level of rod cGMP phosphodiesterase expression |
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Aipl1-/- mouse displays rapid retinal degeneration and massive Müler cell gliosis |
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mouse with rods expressing lowered amounts of AIPL1 delayed the photoresponse, decreased its amplification constant, slowed a rate-limiting step in its recovery, and limited the light-induced decrease in Ca2 |
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in mice lacking endogenous Aipl1, rod-specific expression of hAIPL1 protein completely rescues rod outer segment ultrastructure |
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restoration of cellular function and preservation of photoreceptor cells and retinal function in Aipl1 h/h mice following gene replacement therapy using an AAV2/2 vector and in the light accelerated Aipl1 h/h model and Aipl1-/- mice using an AAV2/8 vector |