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TBX1, one of the deleted genes, is expressed throughout the pharyngeal arches and is considered a key gene, when mutated, for the arch artery defects. Pax9 is expressed in the pharyngeal endoderm and is downregulated in Tbx1 mutant mice. We show here that Pax9 deficient mice are born with complex cardiovascular malformations affecting the outflow tract and aortic arch arteries with failure of the 3rd and 4th pharyngeal arch arteries to form correctly. Transcriptome analysis indicated that Pax9 and Tbx1 may function together, and mice double heterozygous for Tbx1\/Pax9 presented with a significantly increased incidence of interrupted aortic arch when compared to Tbx1 heterozygous mice. Using a novel Pax9Cre allele we demonstrated that the site of this Tbx1-Pax9 genetic interaction is in the pharyngeal endoderm, therefore revealing that a Tbx1-Pax9-controlled signalling mechanism emanating from the pharyngeal endoderm is required for critical tissue interactions during normal morphogenesis of the pharyngeal arch artery system.<\/jats:p>","DOI":"10.1242\/dev.177618","type":"journal-article","created":{"date-parts":[[2019,8,23]],"date-time":"2019-08-23T15:19:00Z","timestamp":1566573540000},"source":"Crossref","is-referenced-by-count":34,"title":["<i>Pax9<\/i>\n                    is required for cardiovascular development and interacts with\n                    <i>Tbx1<\/i>\n                    in the pharyngeal endoderm to control 4th pharyngeal arch artery morphogenesis"],"prefix":"10.1242","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4513-9148","authenticated-orcid":false,"given":"Helen M.","family":"Phillips","sequence":"first","affiliation":[{"name":"Institute of Genetic Medicine, Newcastle University, Newcastle-upon-Tyne, NE1 3BZ, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine A.","family":"Stothard","sequence":"additional","affiliation":[{"name":"Institute of Genetic Medicine, Newcastle University, Newcastle-upon-Tyne, NE1 3BZ, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wasay Mohiuddin Shaikh","family":"Qureshi","sequence":"additional","affiliation":[{"name":"Institute of Genetic Medicine, Newcastle University, Newcastle-upon-Tyne, NE1 3BZ, UK"},{"name":"Current address: School of Biological Sciences, University of Manchester, Manchester, M13 9PT, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anastasia I.","family":"Kousa","sequence":"additional","affiliation":[{"name":"Memorial Sloan Kettering Cancer Center, NY 10065, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J. 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