RGD Reference Report - A new CRB1 rat mutation links Müller glial cells to retinal telangiectasia.

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A new CRB1 rat mutation links Müller glial cells to retinal telangiectasia.
Authors:	Zhao, Min Andrieu-Soler, Charlotte Kowalczuk, Laura Paz Cortés, María Berdugo, Marianne Dernigoghossian, Marilyn Halili, Francisco Jeanny, Jean-Claude Goldenberg, Brigitte Savoldelli, Michèle El Sanharawi, Mohamed Naud, Marie-Christine van Ijcken, Wilfred Pescini-Gobert, Rosanna Martinet, Danielle Maass, Alejandro Wijnholds, Jan Crisanti, Patricia Rivolta, Carlo Behar-Cohen, Francine
Citation:	Zhao M, etal., J Neurosci. 2015 Apr 15;35(15):6093-106. doi: 10.1523/JNEUROSCI.3412-14.2015.
RGD ID:	13451131
Pubmed:	PMID:25878282 (View Abstract at PubMed)
PMCID:	PMC4397606 (View Article at PubMed Central)
DOI:	DOI:10.1523/JNEUROSCI.3412-14.2015 (Journal Full-text)
We have identified and characterized a spontaneous Brown Norway from Janvier rat strain (BN-J) presenting a progressive retinal degeneration associated with early retinal telangiectasia, neuronal alterations, and loss of retinal Müller glial cells resembling human macular telangiectasia type 2 (MacTel 2), which is a retinal disease of unknown cause. Genetic analyses showed that the BN-J phenotype results from an autosomal recessive indel novel mutation in the Crb1 gene, causing dislocalization of the protein from the retinal Müller glia (RMG)/photoreceptor cell junction. The transcriptomic analyses of primary RMG cultures allowed identification of the dysregulated pathways in BN-J rats compared with wild-type BN rats. Among those pathways, TGF-ß and Kit Receptor Signaling, MAPK Cascade, Growth Factors and Inflammatory Pathways, G-Protein Signaling Pathways, Regulation of Actin Cytoskeleton, and Cardiovascular Signaling were found. Potential molecular targets linking RMG/photoreceptor interaction with the development of retinal telangiectasia are identified. This model can help us to better understand the physiopathologic mechanisms of MacTel 2 and other retinal diseases associated with telangiectasia.

Annotation Click to see Annotation Detail View

Disease Annotations

Idiopathic Juxtafoveal Retinal Telangiectasia (IAGP,ISO)

Gene Ontology Annotations

Cellular Component

microvillus (IDA)

photoreceptor inner segment (IDA)

Phenotype Annotations

Mammalian Phenotype

abnormal Muller cell morphology (IAGP)

abnormal retina pigmentation (IAGP)

disorganized retina outer nuclear layer (IAGP)

Objects Annotated

Genes (Rattus norvegicus)

Crb1 (crumbs cell polarity complex component 1)

Crb1^m1 (crumbs 1, cell polarity complex component, mutant 1)

Genes (Mus musculus)

Crb1 (crumbs family member 1, photoreceptor morphogenesis associated)

Genes (Homo sapiens)

CRB1 (crumbs cell polarity complex component 1)

Strains

BN-Crb1^m1 (NA)

Additional Information

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A new CRB1 rat mutation links Müller glial cells to retinal telangiectasia.

Mammalian Phenotype