{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,30]],"date-time":"2026-07-30T06:09:38Z","timestamp":1785391778652,"version":"3.55.0"},"reference-count":66,"publisher":"MDPI AG","issue":"9","license":[{"start":{"date-parts":[[2021,4,23]],"date-time":"2021-04-23T00:00:00Z","timestamp":1619136000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Agence Nationale de la Recherche","award":["ANR-12-BSVS1-001201_GPR179"],"award-info":[{"award-number":["ANR-12-BSVS1-001201_GPR179"]}]},{"name":"Agence Nationale de la Recherche","award":["ANR-18-IAHU-01"],"award-info":[{"award-number":["ANR-18-IAHU-01"]}]},{"name":"Institut Clinique de la Souris-ICS, Illkirch, France","award":["GPR179"],"award-info":[{"award-number":["GPR179"]}]},{"name":"Prix Dalloz","award":["pour la recherche en ophtalmologie"],"award-info":[{"award-number":["pour la recherche en ophtalmologie"]}]},{"name":"Fondation Voir et Entendre","award":["Zeitz"],"award-info":[{"award-number":["Zeitz"]}]},{"name":"Fondation de l\u2019Oeil - Fondation de France","award":["Audo"],"award-info":[{"award-number":["Audo"]}]},{"name":"Ville de Paris and Region Ile de France","award":["Audo-Zeitz"],"award-info":[{"award-number":["Audo-Zeitz"]}]},{"name":"ANR-11-IDEX-0004-0","award":["ANR-10-LABX-65"],"award-info":[{"award-number":["ANR-10-LABX-65"]}]},{"name":"Fondation pour la Recherche M\u00e9dicale","award":["FRM DVS20131228918"],"award-info":[{"award-number":["FRM DVS20131228918"]}]},{"name":"F\u00e9d\u00e9ration des Aveugles et Handicap\u00e9s visuels de France","award":["Pugliese-Neuill\u00e9"],"award-info":[{"award-number":["Pugliese-Neuill\u00e9"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Mutations in GPR179 lead to autosomal recessive complete congenital stationary night blindness (cCSNB). This condition represents a signal transmission defect from the photoreceptors to the ON-bipolar cells. To confirm the phenotype, better understand the pathogenic mechanism in vivo, and provide a model for therapeutic approaches, a Gpr179 knock-out mouse model was genetically and functionally characterized. We confirmed that the insertion of a neo\/lac Z cassette in intron 1 of Gpr179 disrupts the same gene. Spectral domain optical coherence tomography reveals no obvious retinal structure abnormalities. Gpr179 knock-out mice exhibit a so-called no-b-wave (nob) phenotype with severely reduced b-wave amplitudes in the electroretinogram. Optomotor tests reveal decreased optomotor responses under scotopic conditions. Consistent with the genetic disruption of Gpr179, GPR179 is absent at the dendritic tips of ON-bipolar cells. While proteins of the same signal transmission cascade (GRM6, LRIT3, and TRPM1) are correctly localized, other proteins (RGS7, RGS11, and GNB5) known to regulate GRM6 are absent at the dendritic tips of ON-bipolar cells. These results add a new model of cCSNB, which is important to better understand the role of GPR179, its implication in patients with cCSNB, and its use for the development of therapies.<\/jats:p>","DOI":"10.3390\/ijms22094424","type":"journal-article","created":{"date-parts":[[2021,4,23]],"date-time":"2021-04-23T12:08:30Z","timestamp":1619179710000},"page":"4424","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["A New Mouse Model for Complete Congenital Stationary Night Blindness Due to Gpr179 Deficiency"],"prefix":"10.3390","volume":"22","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8306-5250","authenticated-orcid":false,"given":"Elise","family":"Orhan","sequence":"first","affiliation":[{"name":"Institut de la Vision, Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale, Centre National de la Recherche Scientifique, Sorbonne Universit\u00e9, F-75012 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marion","family":"Neuill\u00e9","sequence":"additional","affiliation":[{"name":"Institut de la Vision, Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale, Centre National de la Recherche Scientifique, Sorbonne Universit\u00e9, F-75012 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miguel","family":"de Sousa Dias","sequence":"additional","affiliation":[{"name":"Institut de la Vision, Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale, Centre National de la Recherche Scientifique, Sorbonne Universit\u00e9, F-75012 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Pugliese","sequence":"additional","affiliation":[{"name":"Institut de la Vision, Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale, Centre National de la Recherche Scientifique, Sorbonne Universit\u00e9, F-75012 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christelle","family":"Michiels","sequence":"additional","affiliation":[{"name":"Institut de la Vision, Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale, Centre National de la Recherche Scientifique, Sorbonne Universit\u00e9, F-75012 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christel","family":"Condroyer","sequence":"additional","affiliation":[{"name":"Institut de la Vision, Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale, Centre National de la Recherche Scientifique, Sorbonne Universit\u00e9, F-75012 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aline","family":"Antonio","sequence":"additional","affiliation":[{"name":"Institut de la Vision, Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale, Centre National de la Recherche Scientifique, Sorbonne Universit\u00e9, F-75012 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jos\u00e9-Alain","family":"Sahel","sequence":"additional","affiliation":[{"name":"Institut de la Vision, Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale, Centre National de la Recherche Scientifique, Sorbonne Universit\u00e9, F-75012 Paris, France"},{"name":"Centre Hospitalier National d\u2019Ophtalmologie des Quinze-Vingts, INSERM-DGOS CIC1423, F-75012 Paris, France"},{"name":"Fondation Ophtalmologique Adolphe de Rothschild, F-75019 Paris, France"},{"name":"Academie des Sciences, Institut de France, F-75006 Paris, France"},{"name":"Department of Ophthalmology, The University of Pittsburgh School of Medicine, Pittsburgh, PA 15213, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0698-5309","authenticated-orcid":false,"given":"Isabelle","family":"Audo","sequence":"additional","affiliation":[{"name":"Institut de la Vision, Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale, Centre National de la Recherche Scientifique, Sorbonne Universit\u00e9, F-75012 Paris, France"},{"name":"Centre Hospitalier National d\u2019Ophtalmologie des Quinze-Vingts, INSERM-DGOS CIC1423, F-75012 Paris, France"},{"name":"Institute of Ophthalmology, University College of London, London EC1V 9EL, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3510-1712","authenticated-orcid":false,"given":"Christina","family":"Zeitz","sequence":"additional","affiliation":[{"name":"Institut de la Vision, Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale, Centre National de la Recherche Scientifique, Sorbonne Universit\u00e9, F-75012 Paris, 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