Genomes and Genes
Gene Symbol: Crb1
Description: crumbs homolog 1 (Drosophila)
Alias: 7530426H14Rik, A930008G09Rik, protein crumbs homolog 1
- CRB1 is essential for external limiting membrane integrity and photoreceptor morphogenesis in the mammalian retinaAdrienne K Mehalow
The Jackson Laboratory, 600 Main Street, Bar Harbor, ME 04609, USA
Hum Mol Genet 12:2179-89. 2003Mutations within the CRB1 gene have been shown to cause human retinal diseases including retinitis pigmentosa and Leber congenital amaurosis...
- Human CRB1-associated retinal degeneration: comparison with the rd8 Crb1-mutant mouse modelTomas S Aleman
Scheie Eye Institute, Department of Ophthalmology, University of Pennsylvania, Philadelphia, Pennsylvania, USA
Invest Ophthalmol Vis Sci 52:6898-910. 2011To investigate the human disease due to CRB1 mutations and compare results with the Crb1-mutant rd8 mouse.
- Crumbs homologue 1 is required for maintenance of photoreceptor cell polarization and adhesion during light exposureSerge A van de Pavert
The Netherlands Ophthalmic Research Institute, Royal Netherlands Academy of Arts and Sciences, Meibergdreef 47, 1105 BA Amsterdam, The Netherlands
J Cell Sci 117:4169-77. 2004Loss of Crumbs homologue 1 (CRB1) function causes either the eye disease Leber congenital amaurosis or progressive retinitis pigmentosa, depending on the amount of residual CRB1 activity and the genetic background...
- Crb1 is a determinant of retinal apical Müller glia cell featuresSerge A van de Pavert
Department of Neuromedical Genetics, Netherlands Institute for Neuroscience, Royal Netherlands Academy of Arts and Sciences, Amsterdam, The Netherlands
Glia 55:1486-97. 2007Mutations in the human Crumbs homologue-1 (CRB1) gene cause retinal blinding diseases, such as Leber congenital amaurosis and retinitis pigmentosa...
- Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12)A I den Hollander
Department of Human Genetics, University Hospital Nijmegen, Geert Grooteplein 10, P O Box 9101, 6500 HB Nijmegen, The Netherlands
Nat Genet 23:217-21. 1999..This protein is homologous to the Drosophila melanogaster protein crumbs (CRB), and denoted CRB1 (crumbs homologue 1)...
- A single amino acid substitution (Cys249Trp) in Crb1 causes retinal degeneration and deregulates expression of pituitary tumor transforming gene Pttg1Serge A van de Pavert
Department of Neuromedical Genetics, Netherlands Institute for Neuroscience, Royal Netherlands Academy of Arts and Sciences, 1105 BA Amsterdam, The Netherlands
J Neurosci 27:564-73. 2007Different mutations in the human Crumbs homolog-1 (CRB1) gene cause a variety of retinal dystrophies, such as Leber congenital amaurosis, early onset retinitis pigmentosa (e.g...
- Pals1/Mpp5 is required for correct localization of Crb1 at the subapical region in polarized Muller glia cellsAgnes G S H van Rossum
Department of Neuromedical Genetics, The Netherlands Institute for Neuroscience, Royal Netherlands Academy of Arts and Sciences, Amsterdam, The Netherlands
Hum Mol Genet 15:2659-72. 2006Mutations in the human Crumbs homologue-1 (CRB1) gene cause retinal diseases including Leber's congenital amaurosis (LCA) and retinitis pigmentosa type 12...
- Repair of the degenerate retina by photoreceptor transplantationAmanda C Barber
Department of Genetics, University College London Institute of Ophthalmology, London EC1V 9EL, United Kingdom
Proc Natl Acad Sci U S A 110:354-9. 2013..Integration can increase (Prph2(+/Δ307)), decrease (Crb1(rd8/rd8), Gnat1(-/-), Rho(-/-)), or remain constant (PDE6β(rd1/rd1), Prph2(rd2/rd2)) with disease progression, ..
- Bcl-xL-mediated remodeling of rod and cone synaptic mitochondria after postnatal lead exposure: electron microscopy, tomography and oxygen consumptionGuy A Perkins
National Center for Microscopy and Imaging Research, University of California San Diego, La Jolla, CA, USA
Mol Vis 18:3029-48. 2012..Thus, our experiments investigated the structural and functional effects of environmentally relevant postnatal lead exposure on rod spherule and cone pedicle mitochondria and whether Bcl-xL overexpression provided neuroprotection...
- Autophagy protects the retina from light-induced degenerationYu Chen
Department of Pharmacology, Case Western Reserve University, Cleveland, Ohio 44106, USA
J Biol Chem 288:7506-18. 2013..Taken together, these observations provide novel evidence implicating an important role of autophagy and mitophagy in protecting the retina from all-trans-retinal- and light-induced degeneration...
- Autosomal recessive retinitis pigmentosa E150K opsin mice exhibit photoreceptor disorganizationNing Zhang
Department of Pharmacology, School of Medicine, Case Western Reserve University, 10900 Euclid Avenue, Cleveland, Ohio 44160, USA
J Clin Invest 123:121-37. 2013..Additionally, these results suggest that patients heterozygous for the E150K mutation should be periodically reevaluated for delayed-onset retinal degeneration...
- The Rd8 mutation of the Crb1 gene is present in vendor lines of C57BL/6N mice and embryonic stem cells, and confounds ocular induced mutant phenotypesMary J Mattapallil
Laboratory of Immunology, National Eye Institute, Bethesda, Maryland, USA
Invest Ophthalmol Vis Sci 53:2921-7. 2012..We set out to examine the prevalence of this mutation in induced mutant mouse lines, vendor C57BL/6 mice and in widely used embryonic stem cells...
- Survey of common eye diseases in laboratory mouse strainsBo Chang
The Jackson Laboratory, Bar Harbor, Maine 04609, USA
Invest Ophthalmol Vis Sci 54:4974-81. 2013..These eye diseases are retinal degeneration 1 (Pde6b(rd1)), retinal degeneration 8 (Crb1(rd8)), and cone photoreceptor function loss 3 (Gnat2(cpfl3)).
- Genetic ablation of Pals1 in retinal progenitor cells models the retinal pathology of Leber congenital amaurosisSeo Hee Cho
Pediatric Research Center, Department of Pediatrics, University of Texas Health Science Center, Houston TX 77030, USA
Hum Mol Genet 21:2663-76. 2012Mutation of the polarity gene Crumbs homolog 1 (CRB1) is responsible for >10% of Leber congenital amaurosis (LCA) cases worldwide; LCA is characterized by early-onset degenerative retinal dystrophy...
- Rd8 mutation in the Crb1 gene of CD11c-eYFP transgenic reporter mice results in abnormal numbers of CD11c-positive cells in the retinaXiangting Chen
Department of Anatomy and Developmental Biology, School of Biomedical Sciences, Faculty of Medicine, Nursing and Health Sciences, Monash University, Melbourne, Australia
J Neuropathol Exp Neurol 72:782-90. 2013..confirmed that the cause of the retinal dystrophic lesions in CD11c-eYFP transgenic mice was the occurrence of the Crb1(rd8) mutation, which affects all mice of the C57BL/6N strain but not the C57BL/6J strain...
- GFAP-driven GFP expression in activated mouse Müller glial cells aligning retinal blood vessels following intravitreal injection of AAV2/6 vectorsWendy M Aartsen
Department of Neuromedical Genetics, Netherlands Institute for Neuroscience, an institute of the Royal Netherlands Academy of Arts and Sciences, Amsterdam, The Netherlands
PLoS ONE 5:e12387. 2010..Because activated Müller glial cells span the entire retina and align areas of injury, they are ideal targets for therapeutic strategies, including gene therapy...
- Isolation of Crb1, a mouse homologue of Drosophila crumbs, and analysis of its expression pattern in eye and brainAnneke I den Hollander
Department of Human Genetics, University Medical Centre Nijmegen, P O Box 9101, 6500 HB Nijmegen, The Netherlands
Mech Dev 110:203-7. 2002Mutations in the human Crumbs homologue 1 (CRB1) gene cause severe retinal dystrophies. CRB1 is homologous to Drosophila Crumbs, a protein essential for establishing and maintaining epithelial polarity...
- Crumbs, the Drosophila homologue of human CRB1/RP12, is essential for photoreceptor morphogenesisMilena Pellikka
Department of Zoology, University of Toronto, Toronto, Ontario M5S 3G5, Canada
Nature 416:143-9. 2002..Loss-of-function mutations in the human homologue of Crumbs, CRB1 (RP12), cause recessive retinal dystrophies, including retinitis pigmentosa...
- Retinal degeneration mutants in the mouseB Chang
The Jackson Laboratory, 600 Main Street, Bar Harbor, ME, USA
Vision Res 42:517-25. 2002..cpfl1 mice may provide a model for congenital achromatopsia in humans...
- Expression of a novel secretory form (Crb1s) of mouse Crumbs homologue Crb1 in skin developmentTatsuya Watanabe
Department of Molecular Physiology, Kyoritsu University of Pharmacy, 1 5 30 Shiba koen, Minatoku, Tokyo 105 8512, Japan
Biochem Biophys Res Commun 313:263-70. 2004..We cloned a novel variant of mouse Crb1 and termed it Crb1s...
- Towards understanding CRUMBS function in retinal dystrophiesMélisande Richard
Institut fur Genetik, Heinrich Heine Universitat Dusseldorf, Universitatsstrasse 1, 40225 Dusseldorf, Germany
Hum Mol Genet 15:R235-43. 2006Mutations in the Crumbs homologue 1 (CRB1) gene cause autosomal recessive retinitis pigmentosa (arRP) and autosomal Leber congenital amaurosis (arLCA)...
- The FERM protein Epb4.1l5 is required for organization of the neural plate and for the epithelial-mesenchymal transition at the primitive streak of the mouse embryoJeffrey D Lee
Developmental Biology Program, Sloan Kettering Institute, 1275 York Avenue, New York, NY 10021, USA
Development 134:2007-16. 2007..We propose that mouse Lulu (Epb4.1l5) helps anchor the actin-myosin contractile machinery to the membrane to allow the dynamic rearrangements of epithelia that mediate embryonic morphogenesis...
- Noninvasive, in vivo assessment of mouse retinal structure using optical coherence tomographyM Dominik Fischer
Division of Ocular Neurodegeneration, Centre for Ophthalmology, Institute for Ophthalmic Research, University of Tuebingen, Tuebingen, Germany
PLoS ONE 4:e7507. 2009..Optical coherence tomography (OCT) is a novel method of retinal in vivo imaging. In this study, we assessed the potential of OCT to yield histology-analogue sections in mouse models of retinal degeneration...
- Cone and rod photoreceptor transplantation in models of the childhood retinopathy Leber congenital amaurosis using flow-sorted Crx-positive donor cellsJ Lakowski
Developmental Biology Unit, UCL Institute of Child Health, University College London, 30 Guilford Street, London, UK
Hum Mol Genet 19:4545-59. 2010..transplantation into the wild-type and degenerating retina of two genetic models of Leber congenital amaurosis, the Crb1(rd8/rd8) and Gucy2e(-/-) mouse...
- Composition and function of the Crumbs protein complex in the mammalian retinaIlse Gosens
Department of Human Genetics and Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Geert Grooteplein zuid 10, PO Box 9101, 6500 HB, Nijmegen, The Netherlands
Exp Eye Res 86:713-26. 2008..Mutations in the gene encoding human CRB1, the first one identified out of the three human orthologs, have been associated with a number of retinal ..
- Genetics of Age-Related CataractsBo Chang; Fiscal Year: 2007..abstract_text> ..
- Eye Mutant ResourceBo Chang; Fiscal Year: 2010..Further, these models can be used to identify treatment targets and to test therapeutic strategies. The EMR focuses on identifying, characterizing and distributing such models. ..