Article
Congenital stationary night blindness in mice - a tale of two Cacna1f mutants.
Advances in experimental medicine and biology - 1 Jan 2010
Lodha N, Bonfield S, Orton N C, Doering C J, McRory J E, Mema S C, Rehak R, Sauvé Y, Tobias R, Stell W K, Bech-Hansen N T
Abstract excerpt
BACKGROUND: Mutations in CACNA1F, which encodes the Ca(v)1.4 subunit of a voltage-gated L-type calcium channel, cause X-linked incomplete congenital stationary night blindness (CSNB2), a condition of defective retinal neurotransmission which results in night blindness, reduced visual acuity, and diminished ERG b-wave. We have characterized two putative murine CSNB2 models: an engineered null-mutant, with a stop...
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