University of Pennsylvania ScholarlyCommons Departmental Papers (Vet) School of Veterinary Medicine 12-2010 Assessment of Canine BEST1 Variations Identifies New Mutations and Establishes an Independent Bestrophinopathy Model (cmr3) Barbara Zangerl University of Pennsylvania,
[email protected] Kaisa Wickström Julianna Slavik University of Pennsylvania Sarah J. Lindauer University of Pennsylvania Saija Ahonen See next page for additional authors Follow this and additional works at: https://repository.upenn.edu/vet_papers Part of the Veterinary Medicine Commons Recommended Citation Zangerl, B., Wickström, K., Slavik, J., Lindauer, S. J., Ahonen, S., Schelling, C., Lohi, H., Guziewicz, K. E., & Aguirre, G. D. (2010). Assessment of Canine BEST1 Variations Identifies New Mutations and Establishes an Independent Bestrophinopathy Model (cmr3). Molecular Vision, 16 2791-2804. Retrieved from https://repository.upenn.edu/vet_papers/76 This paper is posted at ScholarlyCommons. https://repository.upenn.edu/vet_papers/76 For more information, please contact
[email protected]. Assessment of Canine BEST1 Variations Identifies New Mutations and Establishes an Independent Bestrophinopathy Model (cmr3) Abstract Purpose: Mutations in bestrophin 1 (BEST1) are associated with a group of retinal disorders known as bestrophinopathies in man and canine multifocal retinopathies (cmr) in the dog. To date, the dog is the only large animal model suitable for the complex characterization and in-depth studies of Best-related disorders. In the first eporr t of cmr, the disease was described in a group of mastiff-related breeds (cmr1) and the Coton de Tulear (cmr2). Additional breeds, e.g., the Lapponian herder (LH) and others, subsequently were recognized with similar phenotypes, but linked loci are unknown.