A missense mutation in Grm6 reduces but does not eliminate mGluR6 expression or rod depolarizing bipolar cell function
| Autor: | Ronald G. Gregg, Gobinda Pangeni, Laura G. Reinholdt, Neal S. Peachey, Samantha Burrill, Son Yong Karst, Bernard FitzMaurice, Maureen A. McCall, Nazarul Hasan, Marge Strobel, Melissa L. Berry, Bo Chang |
|---|---|
| Rok vydání: | 2017 |
| Předmět: |
0301 basic medicine
Retina Physiology General Neuroscience Cell Metabotropic glutamate receptor 6 Depolarization Biology Cell function Molecular biology 03 medical and health sciences 030104 developmental biology medicine.anatomical_structure Mutation (genetic algorithm) medicine Missense mutation Complete congenital stationary night blindness |
| Zdroj: | Journal of Neurophysiology. 118:845-854 |
| ISSN: | 1522-1598 0022-3077 |
| DOI: | 10.1152/jn.00888.2016 |
| Popis: | This article describes a mouse model of the human disease complete congenital stationary night blindness in which the mutation reduces but does not eliminate GRM6 expression and bipolar cell function, a phenotype distinct from that seen in other Grm6 mouse models. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|