{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T15:59:02Z","timestamp":1790438342388,"version":"4.1.0"},"reference-count":12,"publisher":"F1000 Research Ltd","license":[{"start":{"date-parts":[[2015,8,20]],"date-time":"2015-08-20T00:00:00Z","timestamp":1440028800000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["f1000research.com"],"crossmark-restriction":false},"short-container-title":["F1000Res"],"abstract":"<ns4:p>\n                    The study of primary cilia is of broad interest both in terms of disease pathogenesis and the fundamental biological role of these structures. Murine models of ciliopathies provide valuable tools for the study of these diseases. However, it is important to consider the precise phenotype of murine models and how dependant it is upon genetic background. Here we compare and contrast murine models of\n                    <ns4:italic>Cep290<\/ns4:italic>\n                    , a frequent genetic cause of Joubert syndrome in order to refine our concept of genotype-phenotype correlations.\n                  <\/ns4:p>","DOI":"10.12688\/f1000research.6959.1","type":"journal-article","created":{"date-parts":[[2015,8,20]],"date-time":"2015-08-20T10:10:02Z","timestamp":1440065402000},"page":"590","update-policy":"https:\/\/doi.org\/10.12688\/f1000research.crossmark-policy","source":"Crossref","is-referenced-by-count":13,"title":["Murine Cep290 phenotypes are modified by genetic backgrounds and provide an impetus for investigating disease modifier alleles"],"prefix":"10.12688","volume":"4","author":[{"given":"Simon A.","family":"Ramsbottom","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Colin","family":"Miles","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1881-3782","authenticated-orcid":false,"given":"John A.","family":"Sayer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"2560","published-online":{"date-parts":[[2015,8,20]]},"reference":[{"key":"ref-1","doi-asserted-by":"publisher","first-page":"5","DOI":"10.1186\/s13630-015-0014-0","article-title":"The more we know, the more we have to discover: an exciting future for understanding cilia and ciliopathies.","volume":"4","author":"A Benmerah","year":"2015","journal-title":"Cilia."},{"key":"ref-2","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2013.10","article-title":"Clinical utility gene card for: Joubert syndrome--update 2013.","volume":"21","author":"E Valente","year":"2013","journal-title":"Eur J Hum Genet."},{"key":"ref-3","doi-asserted-by":"publisher","first-page":"556-61","DOI":"10.1086\/507318","article-title":"Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis.","volume":"79","author":"A den Hollander","year":"2006","journal-title":"Am J Hum Genet."},{"key":"ref-4","doi-asserted-by":"publisher","first-page":"674-81","DOI":"10.1038\/ng1786","article-title":"The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4.","volume":"38","author":"J Sayer","year":"2006","journal-title":"Nat Genet."},{"key":"ref-5","doi-asserted-by":"publisher","first-page":"104-13","DOI":"10.1086\/519026","article-title":"CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders.","volume":"81","author":"F Brancati","year":"2007","journal-title":"Am J Hum Genet."},{"key":"ref-6","doi-asserted-by":"publisher","first-page":"45-52","DOI":"10.1002\/humu.20614","article-title":"Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome.","volume":"29","author":"V Frank","year":"2008","journal-title":"Hum Mutat."},{"key":"ref-7","doi-asserted-by":"publisher","first-page":"1097-108","DOI":"10.1002\/humu.21337","article-title":"CEP290, a gene with many faces: mutation overview and presentation of CEP290base.","volume":"31","author":"F Coppieters","year":"2010","journal-title":"Hum Mutat."},{"key":"ref-8","doi-asserted-by":"publisher","first-page":"291ra97","DOI":"10.1126\/scitranslmed.aaa5370","article-title":"Basal exon skipping and genetic pleiotropy: A predictive model of disease pathogenesis.","volume":"7","author":"T Drivas","year":"2015","journal-title":"Sci Transl Med."},{"key":"ref-9","doi-asserted-by":"publisher","first-page":"168-76","DOI":"10.1016\/j.tig.2010.01.006","article-title":"Functional modules, mutational load and human genetic disease.","volume":"26","author":"N Zaghloul","year":"2010","journal-title":"Trends Genet."},{"key":"ref-10","doi-asserted-by":"publisher","first-page":"3775-91","DOI":"10.1093\/hmg\/ddv123","article-title":"CEP290 alleles in mice disrupt tissue-specific cilia biogenesis and recapitulate features of syndromic ciliopathies.","volume":"24","author":"R Rachel","year":"2015","journal-title":"Hum Mol Genet."},{"key":"ref-11","doi-asserted-by":"publisher","first-page":"514-22","DOI":"10.1136\/jmedgenet-2015-103087","article-title":"Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.","volume":"52","author":"R Bachmann-Gagescu","year":"2015","journal-title":"J Med Genet."},{"key":"ref-12","doi-asserted-by":"publisher","first-page":"9893-8","DOI":"10.1073\/pnas.1322373111","article-title":"Murine Joubert syndrome reveals Hedgehog signaling defects as a potential therapeutic target for nephronophthisis.","volume":"111","author":"A Hynes","year":"2014","journal-title":"Proc Natl Acad Sci U S A."}],"container-title":["F1000Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/f1000research.com\/articles\/4-590\/v1\/xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/f1000research.com\/articles\/4-590\/v1\/pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/f1000research.com\/articles\/4-590\/v1\/iparadigms","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2018,12,5]],"date-time":"2018-12-05T07:12:01Z","timestamp":1543993921000},"score":1,"resource":{"primary":{"URL":"https:\/\/f1000research.com\/articles\/4-590\/v1"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,8,20]]},"references-count":12,"URL":"https:\/\/doi.org\/10.12688\/f1000research.6959.1","relation":{"has-review":[{"id-type":"doi","id":"10.5256\/f1000research.7495.r10029","asserted-by":"subject"},{"id-type":"doi","id":"10.5256\/f1000research.7495.r10185","asserted-by":"subject"},{"id-type":"doi","id":"10.5256\/f1000research.7495.r10029","asserted-by":"object"},{"id-type":"doi","id":"10.5256\/f1000research.7495.r10185","asserted-by":"object"}]},"ISSN":["2046-1402"],"issn-type":[{"value":"2046-1402","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,8,20]]},"assertion":[{"value":"Indexed","URL":"https:\/\/f1000research.com\/articles\/4-590\/v1#article-reports","order":0,"name":"referee-status","label":"Referee status","group":{"name":"current-referee-status","label":"Current Referee Status"}},{"value":"10.5256\/f1000research.7495.r10029, Eugen Boltshauser, Department of Pediatric Neurology, University Children's Hospital Zurich, Zurich, Switzerland, 25 Aug 2015, version 1, indexed","URL":"https:\/\/f1000research.com\/articles\/4-590\/v1#referee-response-10029","order":0,"name":"referee-response-10029","label":"Referee Report","group":{"name":"article-reports","label":"Article Reports"}},{"value":"10.5256\/f1000research.7495.r10185, Russell J. Ferland, Kiet Hua, Center for Neuropharmacology and Neuroscience and the Department of Neurology, Albany Medical College, Albany, NY, USA, 22 Sep 2015, version 1, indexed","URL":"https:\/\/f1000research.com\/articles\/4-590\/v1#referee-response-10185","order":1,"name":"referee-response-10185","label":"Referee Report","group":{"name":"article-reports","label":"Article Reports"}},{"value":"Work was funded by the Medical Research Council (MR\/M012212\/1), support to all authors. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.","order":2,"name":"grant-information","label":"Grant Information"},{"value":"This is an open access article distributed under the terms of the Creative Commons Attribution Licence, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.","order":0,"name":"copyright-info","label":"Copyright"}]}}