Loss of CRB2 in the mouse retina mimics human retinitis pigmentosa due to mutations in the CRB1 gene

In humans, the Crumbs homolog-1 (CRB1) gene is mutated in progressive types of autosomal recessive retinitis pigmentosa and Leber congenital amaurosis. However, there is no clear genotype-phenotype correlation for CRB1 mutations, which suggests that other components of the CRB complex may influence...

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Bibliographic Details

Published in:	Human molecular genetics 2013-01, Vol.22 (1), p.35-50
Main Authors:	Alves, Celso Henrique, Sanz, Alicia Sanz, Park, Bokyung, Pellissier, Lucie P, Tanimoto, Naoyuki, Beck, Susanne C, Huber, Gesine, Murtaza, Mariyam, Richard, Fabrice, Sridevi Gurubaran, Iswariyaraja, Garcia Garrido, Marina, Levelt, Christiaan N, Rashbass, Penny, Le Bivic, André, Seeliger, Mathias W, Wijnholds, Jan
Format:	Article
Language:	eng
Subjects:	Animals Apoptosis Base Sequence DNA Primers Electroretinography Eye Proteins Eye Proteins - genetics Genetics Human health and pathology Humans Life Sciences Membrane Proteins Membrane Proteins - genetics Mice Mice, Inbred C57BL Mice, Knockout Mutation Nerve Tissue Proteins Nerve Tissue Proteins - genetics Photoreceptor Cells, Vertebrate Photoreceptor Cells, Vertebrate - pathology Polymerase Chain Reaction Retina Retina - growth & development Retina - metabolism Retinitis Pigmentosa Retinitis Pigmentosa - genetics Retinitis Pigmentosa - pathology Sensory Organs Tomography, Optical Coherence
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