Photoreceptor degeneration in two mouse models for congenital stationary night blindness type 2.

doi:10.1371/journal.pone.0086769

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Article

Photoreceptor degeneration in two mouse models for congenital stationary night blindness type 2.

PloS one - 1 Jan 2014

Regus-Leidig Hanna, Atorf Jenny, Feigenspan Andreas, Kremers Jan, Maw Marion A, Brandstätter Johann Helmut

Abstract excerpt

Light-dependent conductance changes of voltage-gated Cav1.4 channels regulate neurotransmitter release at photoreceptor ribbon synapses. Mutations in the human CACNA1F gene encoding the α1F subunit of Cav1.4 channels cause an incomplete form of X-linked congenital stationary night blindness (CSNB2). Many CACNA1F mutations are loss-of-function mutations resulting in non-functional Cav1.4 channels, but some...

Topics

Animals
Calcium
Calcium Channels
Calcium Channels, L-Type
Electroretinography
Eye Diseases, Hereditary
Female
Genetic Diseases, X-Linked
Longitudinal Studies
Male
Membrane Potentials

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mice

Models, Animal

Mutation

Myopia

Night Blindness

Retinal Degeneration

Retinal Horizontal Cells

Source

Open in PubMed Open full text

Identifiers

PMID: 24466230
DOI: 10.1371/journal.pone.0086769
PMCID: PMC3897778

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