Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol CACNA1F contributors: shn/npt - updated : 26-05-2016
HGNC name calcium channel, voltage-dependent, L type, alpha 1F subunit
HGNC id 1393
ANIMAL & CELL MODELS
  • mouse with a loss-of-function mutation of Cacna1f gene has neither Cone ERG nor visual evoked potentials responses and has profound loss of photoreceptor synapses, and abnormal dendritic sprouting of second-order neurons in the photoreceptor layer (Mansergh et al, 2005)
  • in mice lacking Cav 1.4 channels, there are defects in the development of "ribbon" synapses formed between photoreceptors (PRs) and second-order neurons
  • Cacna1f-knockout mice show an apparent lack of visual function, gradual retinal degeneration, and disruption of photoreceptor synaptic terminals