BMC Seminar Thursday, 15th of March at 12:25 in room 343 Læknagarður
Speaker: Andrea García LLorca, PhD student of Thor Eysteinsson and Margrét Helga Ogmundsdóttir, Departments of Physiology, Biochemistry and Molecular Biology, Faculty of Medicine, University of Iceland.
Title: Microphthalmia-associated transcription factor (Mitf) as a regulator of eye phenotype in mice.
Abstract: The Mitf gene has proven to be crucial for the correct RPE development, which is essential for the proper eye morphogenesis and for the proper function of the photoreceptors. Loss of function mutations in this gene can cause ocular hypopigmentation, microphthalmia and blindness. We have selected mutations that have mild or intermediate effects on eye development in heterozygous, homozygous or in compound heterozygous conditions, resulting in a phenotypic series ranging from severe to mild effects. The purpose of this study was to analyze the retinal function, morphology of the eye and visible changes in the fundus of mice with specific mutations in the Mitf gene.