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Genetic interactions between members of the notch pathway have previously been shown to cause patterning defects not observed in single gene disruptions. We examined <jats:italic>Dll3\u2010Notch1<\/jats:italic> compound mouse mutants to screen for potential gene interactions. While mice heterozygous at either locus appeared normal, 30% of <jats:italic>Dll3\u2010Notch1<\/jats:italic> double heterozygous animals exhibited localized, segmental anomalies similar to human congenital vertebral defects. Unexpectedly, double heterozygous mice also displayed statistically significant reduction of mandibular height and elongation of maxillary hard palate. Examination of somite\u2010stage embryos and perinatal anatomy and histology did not reveal any organ defects, so we used microarray\u2010based analysis of <jats:italic>Dll3<\/jats:italic> and <jats:italic>Notch1<\/jats:italic> mutant embryos to identify gene targets that may be involved in notch\u2010regulated segmental or craniofacial development. Thus, <jats:italic>Dll3\u2010Notch1<\/jats:italic> double heterozygous mice model human congenital scoliosis and craniofacial disorders. Developmental Dynamics 236:2943\u20132951, 2007. \u00a9 2007 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/dvdy.21296","type":"journal-article","created":{"date-parts":[[2007,9,11]],"date-time":"2007-09-11T12:48:21Z","timestamp":1189514901000},"page":"2943-2951","source":"Crossref","is-referenced-by-count":37,"title":["<i>Dll3<\/i> and <i>Notch1<\/i> genetic interactions model axial segmental and craniofacial malformations of human birth defects"],"prefix":"10.1002","volume":"236","author":[{"given":"Kathleen M.","family":"Loomes","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stacey A.","family":"Stevens","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Megan L.","family":"O'Brien","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dorian M.","family":"Gonzalez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Matthew J.","family":"Ryan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michelle","family":"Segalov","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nicholas J.","family":"Dormans","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mizuho S.","family":"Mimoto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joshua D.","family":"Gibson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"William","family":"Sewell","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alyssa A.","family":"Schaffer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hyun\u2010Duck","family":"Nah","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eric F.","family":"Rappaport","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stephen C.","family":"Pratt","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sally L.","family":"Dunwoodie","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kenro","family":"Kusumi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2007,9,11]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0177(199904)214:4<291::AID-AJA2>3.0.CO;2-E"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2005.02.001"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/74307"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/dvdy.20821"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.121.5.1533"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.13.21.2801"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.124.16.3065"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.129.7.1795"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/hep.510290331"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1097\/01241398-200411000-00015"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.291004"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1070824"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature03940"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/dvdy.20850"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/jcp.10208"},{"key":"e_1_2_6_17_1","doi-asserted-by":"crossref","unstructured":"ItohF ItohS GoumansMJ ValdimarsdottirG IsoT DottoGP HamamoriY KedesL KatoM ten Dijke PtP.2004.Synergy and antagonism between Notch and BMP receptor signaling pathways in endothelial cells. 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