{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,24]],"date-time":"2026-06-24T13:15:50Z","timestamp":1782306950871,"version":"3.54.5"},"reference-count":42,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2023,4,27]],"date-time":"2023-04-27T00:00:00Z","timestamp":1682553600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000053","name":"National Eye Institute","doi-asserted-by":"publisher","award":["R01 EY026817 and R01 EY020542"],"award-info":[{"award-number":["R01 EY026817 and R01 EY020542"]}],"id":[{"id":"10.13039\/100000053","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Mol. Neurosci."],"abstract":"<jats:p>The voltage-gated calcium channel, Cav1.4 is localized to photoreceptor ribbon synapses and functions both in molecular organization of the synapse and in regulating release of synaptic vesicles. Mutations in Cav1.4\u2009subunits typically present as either incomplete congenital stationary night blindness or a progressive cone-rod dystrophy in humans. We developed a cone-rich mammalian model system to further study how different Cav1.4 mutations affect cones. RPE65 R91W KI; Nrl KO \u201cConefull\u201d mice were crossed to Cav1.4 \u03b11F or \u03b12\u03b44 KO mice to generate the \u201cConefull:\u03b11F KO\u201d and \u201cConefull:\u03b12\u03b44 KO\u201d lines. Animals were assessed using a visually guided water maze, electroretinogram (ERG), optical coherence tomography (OCT), and histology. Mice of both sexes and up to six-months of age were used. Conefull: \u03b11F KO mice could not navigate the visually guided water maze, had no b-wave in the ERG, and the developing all-cone outer nuclear layer reorganized into rosettes at the time of eye opening with degeneration progressing to 30% loss by 2-months of age. In comparison, the Conefull: \u03b12\u03b44 KO mice successfully navigated the visually guided water maze, had a reduced amplitude b-wave ERG, and the development of the all-cone outer nuclear layer appeared normal although progressive degeneration with 10% loss by 2-months of age was observed. In summary, new disease models for studying congenital synaptic diseases due to loss of Cav1.4 function have been created.<\/jats:p>","DOI":"10.3389\/fnmol.2023.1155955","type":"journal-article","created":{"date-parts":[[2023,4,27]],"date-time":"2023-04-27T05:26:10Z","timestamp":1682573170000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":2,"title":["Mouse all-cone retina models of Cav1.4 synaptopathy"],"prefix":"10.3389","volume":"16","author":[{"given":"Joseph G.","family":"Laird","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ariel","family":"Kopel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Colten K.","family":"Lankford","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sheila A.","family":"Baker","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2023,4,27]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","first-page":"668","DOI":"10.1016\/j.ophtha.2015.09.045","article-title":"Mutations in CACNA2D4 cause distinctive retinal dysfunction in humans","volume":"123","author":"Ba-Abbad","year":"2016","journal-title":"Ophthalmology"},{"key":"ref2","doi-asserted-by":"publisher","first-page":"2072","DOI":"10.1016\/j.ophtha.2013.03.002","article-title":"Genotype and phenotype of 101 dutch patients with congenital stationary night blindness","volume":"120","author":"Bijveld","year":"2013","journal-title":"Ophthalmology"},{"key":"ref3","doi-asserted-by":"publisher","first-page":"204","DOI":"10.1016\/S0008-4182(00)80031-9","article-title":"Clinical variability among patients with incomplete X-linked congenital stationary night blindness and a founder mutation in CACNA1F","volume":"35","author":"Boycott","year":"2000","journal-title":"Can. 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