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

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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.

Disease Annotations    

Gene Ontology Annotations    

Cellular Component

Phenotype Annotations    

Mammalian Phenotype
Objects Annotated

Genes (Rattus norvegicus)
Crb1  (crumbs cell polarity complex component 1)
Crb1m1  (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)

BN-Crb1m1  (NA)

Additional Information