Article
Cav1.4 IT mouse as model for vision impairment in human congenital stationary night blindness type 2.
Channels (Austin, Tex.) - 1 Jan 2000
Knoflach Dagmar, Kerov Vasily, Sartori Simone B, Obermair Gerald J, Schmuckermair Claudia, Liu Xiaoni, Sothilingam Vithiyanjali, Garcia Garrido Marina, Baker Sheila A, Glösmann Martin, Schicker Klaus, Seeliger Mathias, Lee Amy, Koschak Alexandra
Abstract excerpt
Mutations in the CACNA1F gene encoding the Cav1.4 Ca (2+) channel are associated with X-linked congenital stationary night blindness type 2 (CSNB2). Despite the increasing knowledge about the functional behavior of mutated channels in heterologous systems, the pathophysiological mechanisms that result in vision impairment remain to be elucidated. This work provides a thorough functional characterization of the...
Topics
- Animals
- Behavior, Animal
- Calcium Channels
- Calcium Channels, L-Type
- Disease Models, Animal
- Eye Diseases, Hereditary
- Gene Expression Regulation
- Genetic Diseases, X-Linked
- Humans