Article
A New Mouse Model for Complete Congenital Stationary Night Blindness Due to Gpr179 Deficiency.
International journal of molecular sciences - 23 Apr 2021
Orhan Elise, Neuillé Marion, de Sousa Dias Miguel, Pugliese Thomas, Michiels Christelle, Condroyer Christel, Antonio Aline, Sahel José-Alain, Audo Isabelle, Zeitz Christina
Abstract excerpt
Mutations in GPR179 lead to autosomal recessive complete congenital stationary night blindness (cCSNB). This condition represents a signal transmission defect from the photoreceptors to the ON-bipolar cells. To confirm the phenotype, better understand the pathogenic mechanism in vivo, and provide a model for therapeutic approaches, a Gpr179 knock-out mouse model was genetically and functionally characterized. We...
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