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- W2024748322 abstract "Mutations in the CACNA1F gene encoding the Cav1.4 Ca (2+) channel are associated with X-linked congenital stationary night blindness type 2 (CSNB2). Despite the increasing knowledge about the functional behavior of mutated channels in heterologous systems, the pathophysiological mechanisms that result in vision impairment remain to be elucidated. This work provides a thorough functional characterization of the novel IT mouse line that harbors the gain-of-function mutation I745T reported in a New Zealand CSNB2 family. (1) Electroretinographic recordings in IT mice permitted a direct comparison with human data. Our data supported the hypothesis that a hyperpolarizing shift in the voltage-dependence of channel activation-as seen in the IT gain-of-function mutant (2)-may reduce the dynamic range of photoreceptor activity. Morphologically, the retinal outer nuclear layer in adult IT mutants was reduced in size and cone outer segments appeared shorter. The organization of the outer plexiform layer was disrupted, and synaptic structures of photoreceptors had a variable, partly immature, appearance. The associated visual deficiency was substantiated in behavioral paradigms. The IT mouse line serves as a specific model for the functional phenotype of human CSNB2 patients with gain-of-function mutations and may help to further understand the dysfunction in CSNB." @default.
- W2024748322 created "2016-06-24" @default.
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- W2024748322 date "2013-11-02" @default.
- W2024748322 modified "2023-09-30" @default.
- W2024748322 title "Cav1.4 IT mouse as model for vision impairment in human congenital stationary night blindness type 2" @default.
- W2024748322 cites W1503250866 @default.
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- W2024748322 cites W1977519047 @default.
- W2024748322 cites W1990463963 @default.
- W2024748322 cites W1993506358 @default.
- W2024748322 cites W1995284319 @default.
- W2024748322 cites W1998183942 @default.
- W2024748322 cites W2006559098 @default.
- W2024748322 cites W2016123897 @default.
- W2024748322 cites W2026743321 @default.
- W2024748322 cites W2027828789 @default.
- W2024748322 cites W2028954428 @default.
- W2024748322 cites W2031868957 @default.
- W2024748322 cites W2033231791 @default.
- W2024748322 cites W2036458630 @default.
- W2024748322 cites W2038835475 @default.
- W2024748322 cites W2041526316 @default.
- W2024748322 cites W2042901142 @default.
- W2024748322 cites W2047689131 @default.
- W2024748322 cites W2052908582 @default.
- W2024748322 cites W2052940564 @default.
- W2024748322 cites W2054309165 @default.
- W2024748322 cites W2055196796 @default.
- W2024748322 cites W2057934269 @default.
- W2024748322 cites W2063037439 @default.
- W2024748322 cites W2066055173 @default.
- W2024748322 cites W2067502143 @default.
- W2024748322 cites W2069872409 @default.
- W2024748322 cites W2076051875 @default.
- W2024748322 cites W2079022031 @default.
- W2024748322 cites W2081118860 @default.
- W2024748322 cites W2088677652 @default.
- W2024748322 cites W2091863239 @default.
- W2024748322 cites W2094840655 @default.
- W2024748322 cites W2095429245 @default.
- W2024748322 cites W2095674941 @default.
- W2024748322 cites W2103224021 @default.
- W2024748322 cites W2104301336 @default.
- W2024748322 cites W2105689617 @default.
- W2024748322 cites W2117316542 @default.
- W2024748322 cites W2118027752 @default.
- W2024748322 cites W2126379315 @default.
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- W2024748322 cites W2127564491 @default.
- W2024748322 cites W2129714795 @default.
- W2024748322 cites W2138447329 @default.
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- W2024748322 cites W2155814096 @default.
- W2024748322 cites W2158997359 @default.
- W2024748322 cites W2164468733 @default.
- W2024748322 cites W2165126772 @default.
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- W2024748322 doi "https://doi.org/10.4161/chan.26368" @default.
- W2024748322 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/4042485" @default.
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