CACNA1F encodes the α1F subunit of an L-type voltage-gated calcium channel, Cav1.4. In photoreceptor synaptic terminals, Cav1.4 channels mediate glutamate release and postsynaptic responses associated with visual signal transmission [1]. This gene is also involved in the function of skeletal muscle as the Cav1.4 complex encoded by it impacts muscle functions [3].

In a Cacna1f-KO mouse model of congenital stationary night blindness 2A (CSNB2A), transgenic expression of Cacna1f rescued some visual function and restored wild-type-like photoreceptor and synaptic morphology, demonstrating the importance of Cacna1f in maintaining normal retinal function [2]. In a Cacna1f mutation rat model (Cacna1f(CSNB2) rat), the Cacna1f mutation reduced the function of slow-twitch skeletal muscle and affected synapse-associated protein expression, potentially blocking signal transmission in synaptic connectivity of the retina and skeletal muscle [3].

In conclusion, Cacna1f is crucial for visual signal transmission in the retina and for the normal function of skeletal muscle. Studies using gene-knockout mouse and rat models have revealed its role in congenital stationary night blindness and in modulating skeletal muscle function, providing insights into potential gene-therapy strategies for related diseases [2,3].

References:

1. Dai, Xufeng, Pang, Shiyi, Wang, Jieping, Pang, Jijing, Chang, Bo. 2018. Photoreceptor degeneration in a new Cacna1f mutant mouse model. In Experimental eye research, 179, 106-114. doi:10.1016/j.exer.2018.11.010. https://pubmed.ncbi.nlm.nih.gov/30445045/

2. Waldner, Derek M, Ito, Kenichi, Chen, Li-Li, Stell, William K, Bech-Hansen, N Torben. 2020. Transgenic Expression of Cacna1f Rescues Vision and Retinal Morphology in a Mouse Model of Congenital Stationary Night Blindness 2A (CSNB2A). In Translational vision science & technology, 9, 19. doi:10.1167/tvst.9.11.19. https://pubmed.ncbi.nlm.nih.gov/33117610/

3. An, Jing, Zhang, Lei, Jiao, Bo, Yu, Zhibin, Zhang, Zuoming. 2015. Cacna1f gene decreased contractility of skeletal muscle in rat model with congenital stationary night blindness. In Gene, 562, 210-9. doi:10.1016/j.gene.2015.02.073. https://pubmed.ncbi.nlm.nih.gov/25748727/