{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T05:48:48Z","timestamp":1790833728685,"version":"4.1.0"},"reference-count":14,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2010,3,1]],"date-time":"2010-03-01T00:00:00Z","timestamp":1267401600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genesis"],"published-print":{"date-parts":[[2010,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Mutations in <jats:italic>Interferon Regulatory Factor 6<\/jats:italic> (<jats:italic>IRF6<\/jats:italic>) have been identified in two human allelic syndromes with cleft lip and\/or palate: Van der Woude (VWS) and Popliteal Pterygium syndromes (PPS). Furthermore, common <jats:italic>IRF6<\/jats:italic> haplotypes and single nucleotide polymorphisms (SNP) alleles are strongly associated with nonsyndromic clefting defects in multiple ethnic populations. Mutations in the mouse often provide good models for the study of human diseases and developmental processes. We identified the <jats:italic>cleft palate 1<\/jats:italic> (<jats:italic>clft1<\/jats:italic>) mouse mutant in a forward genetic screen for phenotypes modeling human congenital disease. In the <jats:italic>clft1<\/jats:italic> mutant, we have identified a novel missense point mutation in the mouse <jats:italic>Irf6<\/jats:italic> gene, which confers an amino acid alteration that has been found in a VWS family. Phenotypic comparison of <jats:italic>clft1<\/jats:italic> mutants to previously reported <jats:italic>Irf6<\/jats:italic> mutant alleles demonstrates the <jats:italic>Irf6<\/jats:italic><jats:sup><jats:italic>clft1<\/jats:italic><\/jats:sup> allele is a hypomorphic allele. The cleft palate seen in these mutants appears to be due to abnormal adhesion between the palate and tongue. The <jats:italic>Irf6<\/jats:italic><jats:sup><jats:italic>clft1<\/jats:italic><\/jats:sup> allele provides the first mouse model for the study of an etiologic <jats:italic>IRF6<\/jats:italic> missense mutation observed in a human VWS family. genesis 48:303\u2013308, 2010. \u00a9 2010 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/dvg.20618","type":"journal-article","created":{"date-parts":[[2010,3,1]],"date-time":"2010-03-01T19:33:09Z","timestamp":1267471989000},"page":"303-308","source":"Crossref","is-referenced-by-count":11,"title":["Identification of a Van der Woude syndrome mutation in the <i>cleft palate 1<\/i> mutant mouse"],"prefix":"10.1002","volume":"48","author":[{"given":"R.W.","family":"Stottmann","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B.C.","family":"Bjork","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.B.","family":"Doyle","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.R.","family":"Beier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2010,5,6]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00335-008-9149-2"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.125.8.1541"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng812"},{"key":"e_1_2_1_5_1","volume-title":"Manipulating the mouse embryo","author":"Hogan B","year":"1994"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1903"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng985"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddn381"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.4563306"},{"key":"e_1_2_1_10_1","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1093\/oso\/9780195139068.003.0012","volume-title":"Cleft lip and palate. From origin to treatment","author":"Mossey PA","year":"2002"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.242"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1894"},{"key":"e_1_2_1_13_1","first-page":"81","article-title":"A preliminary gene map for the Van der Woude syndrome critical region derived from 900 kb of genomic sequence at 1q32\u2010q41","volume":"10","author":"Schutte BC","year":"2000","journal-title":"Genome Res"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e3181833793"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa032909"}],"container-title":["genesis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fdvg.20618","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/dvg.20618","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,21]],"date-time":"2023-11-21T07:05:45Z","timestamp":1700550345000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/dvg.20618"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,5]]},"references-count":14,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2010,5]]}},"alternative-id":["10.1002\/dvg.20618"],"URL":"https:\/\/doi.org\/10.1002\/dvg.20618","archive":["Portico"],"relation":{},"ISSN":["1526-954X","1526-968X"],"issn-type":[{"value":"1526-954X","type":"print"},{"value":"1526-968X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,5]]}}}