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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


This project aims to complete the visual phenotyping of a series of animal models generated with CRISPR gene editing tools for research on various types of the rare human disease globally known as albinism, of which we currently know 22 different types, associated with mutations in a similar number of genes. During this first year of work, which we formally began in May 2021, we have proceeded to analyse the visual phenotype of oculocutaneous albinism 1B (OCA1B) model mice with mutations in the Tyr gene (homologous to the human TYR gene). In particular, we have evaluated the visual capacity of genetically edited mice carrying the mutations S192Y and R402Q in homozygosis. The pathogenicity around these two amino acids is a subject of discussion in the field and, for this, the doctoral thesis of Andrea Montero Atalaya, successfully defended on September 24, 2021 at the UAM, with the title "Functional analysis of the variants S192Y and R402Q of the tyrosinase gene and its implication in Oculocutaneous Albinism type 1” was able to conclude that, indeed, there were statistically significant visual deficits between mice carrying these mutations and control pigmented mice. Therefore, we were able to deduce that, in effect, these are undoubtedly pathogenic mutations and should be considered as such when interpreting them in future genetic diagnoses. We completed the visual phenotyping in collaboration with the laboratory of Prof. Nicolás Cuenca (UA), where we carried out the optokinetic and electroretinographic tests, while we are awaiting to purchase a new apparatus for the optomotor test charged to the funds of this FRA funded project. 


Scientific Production
Magazine Articles 9
Communications at national conferences 5
Communications at international conferences 3


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