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Article

Mutation of the calcium channel gene Cacna1f disrupts calcium signaling, synaptic transmission and cellular organization in mouse retina.

Human molecular genetics - 15 Oct 2005

Mansergh Fiona, Orton Noelle C, Vessey John P, Lalonde Melanie R, Stell William K, Tremblay Francois, Barnes Steven, Rancourt Derrick E, Bech-Hansen N Torben

Abstract excerpt

Retinal neural transmission represents a key function of the eye. Identifying the molecular components of this vital process is helped by studies of selected human genetic eye disorders. For example, mutations in the calcium channel subunit gene CACNA1F cause incomplete X-linked congenital stationary night blindness (CSNB2 or iCSNB), a human retinal disorder with abnormal electrophysiological response and visual...

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PMID: 16155113
DOI: 10.1093/hmg/ddi336

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ERG

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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Mutation of the calcium channel gene Cacna1f disrupts calcium signaling, synaptic transmission and cellular organization in mouse retina.PMID 16155113Read ↗

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