Article
RPGRIP1 is essential for normal rod photoreceptor outer segment elaboration and morphogenesis.
Human molecular genetics - 15 Nov 2009
Won Jungyeon, Gifford Elaine, Smith Richard S, Yi Haiqing, Ferreira Paulo A, Hicks Wanda L, Li Tiansen, Naggert Jürgen K, Nishina Patsy M
Abstract excerpt
The function of the retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1) gene is currently not known. However, mutations within the gene lead to Leber Congenital Amaurosis and autosomal recessive retinitis pigmentosa in human patients. In a previously described knockout mouse model of the long splice variant of Rpgrip1, herein referred to as Rpgrip1(tm1Tili) mice, mislocalization of key outer...
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