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M.M. Sohocki, S.L. Donovan, J. Zhang, J.K. Gray, A. Ortiz, R. Tenney, S. Salari, J. Kong, R. Allikmets, M.A. Dyer; Characterization of Retinal Development in Aipl1 Deficient Mice . Invest. Ophthalmol. Vis. Sci. 2005;46(13):3182.
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© ARVO (1962-2015); The Authors (2016-present)
Our previous genetic analyses of LCA patients identified mutations in the aryl–hydrocarbon interacting protein–like 1 (AIPL1) gene. The presence of this disease from birth is consistent with a developmental defect; therefore, the characterization of retinal development in an animal model of Aipl1–associated blindness is especially important.
We combined several genetic approaches both in vitro and in our recently developed Aipl1–deficient mouse to characterize the role of Aipl1 in regulating proliferation, apoptosis, cell fate specification and differentiation in the retina.
Aipl1 misexpression altered retinal proliferation and cell fate specification; however, there was an absence of gross abnormalities in the early stage retinae of the Aipl1–deficient mouse. The absence of Aipl1 is lethal to photoreceptors in the final stages of cell differentiation, with the mouse displaying rapid retinal degeneration and massive Müller cell gliosis, resembling the phenotype of the rd mouse.
Other family members or proteins in the Aipl1 functional pathway might be performing redundant or compensatory roles in retinal proliferation but are unable to compensate for the absence of Aipl1 in later stages of retinal development.
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