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Phenotyping of animal models of rare diseases with visual disability

20th national competition for scientific and technical research

Rare diseases

Senior Researcher : Lluís Montoliu José

Research Centre or Institution : Centro Nacional de Biotecnología (CNB). CSIC. Madrid



The main objective of this project is to complete the visual phenotypic analysis of several animal models, in mice, generated with the CRISPR genome editing tools to investigate the visual disability associated to a human rare disease known as albinism, a low prevalent genetic condition affecting 1:10.000/20.000 born in our country, and of which we currently know up to 22 different albinism types, each one of them associated to mutations in a specific gene. During this second year of work we have continued analysing the visual phenotype of the genome edited mouse models generated in the laboratory through CRISPR technology. Those cases correspond to ocular albinism types, such as OA1, caused by mutations in the GPR143 gene, or the FHONDA albinism, caused by mutations in the SLC38A8 gene. This work has been performed by Ana María Guardia Carrión, predoctoral researcher who is in the process of finalizaing her experimental studies leading to her PhD thesis, thanks to the economic support of this project. We have addressed the visual phenotyping experiments from three distinct methodological approaches. First, using histological analysis (with the optical microscope) and cytological analysis (with the electronic microscope) on retina sections of these animals. Second, and in collaboration with Dr. Alexandra Rebsam (Institut de la Vision, Paris, France) we have been able to analyse the neural connection between the retina and the brain nuclei in charge of visual processing, using molecular tracers and advanced microscopy enabling the inspection of the entire and intact visual system without dissecting it. Third and last, in collaboration with Prof. Nicolás Cuenca (Universidad de Alicante), we have been able to functionally assess the visual capacity of these mice through electroretinography methods, in light and dark conditions, and the optomotor test assays, meant to discriminate the visual acuity of these mouse models through this behavioural test.


Scientific Production
Magazine Articles 10
Communications at national conferences 3
Communications at international conferences 4


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