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Abnormalities in these valves, such as bicuspid aortic valve (BAV), are common congenital anomalies. GATA6-inactivating variants cause cardiac OFT defects and BAV, but their mechanisms are unclear. We generated Gata6STOP\/+ mice using CRISPR-Cas9, which show highly penetrant BAV (70%) and membranous ventricular septal defects (43%). These mice exhibited decreased proliferation and increased ISL1-positive progenitor cells in the OFT, indicating abnormal cardiovascular differentiation. Gata6 deletion with the Mef2cCre driver line recapitulated Gata6STOP\/+ phenotypes, indicating a cell-autonomous role for Gata6 in the second heart field. Gata6STOP\/+ mice showed reduced OFT length and caliber, associated with deficient cardiac neural crest cell contribution, which may cause valvulo-septal defects. RNA-sequencing analysis showed depletion in pathways related to cell proliferation and migration, highlighting Cxcr7 (also known as Ackr3) as a candidate gene. Reduced mesenchymal cell migration and invasion were observed in Gata6STOP\/+ OFT tissue. CXCR7 agonists reduced mesenchymal cell migration and increased invasion in wild-type but not in Gata6STOP\/+ explants, indicating the GATA6-dependent role of CXCR7 in OFT development and its potential link to BAV.<\/jats:p>","DOI":"10.1242\/dmm.050934","type":"journal-article","created":{"date-parts":[[2024,9,10]],"date-time":"2024-09-10T07:42:39Z","timestamp":1725954159000},"source":"Crossref","is-referenced-by-count":4,"title":["Deficient GATA6\u2013CXCR7 signaling leads to bicuspid aortic valve"],"prefix":"10.1242","volume":"17","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4227-8484","authenticated-orcid":false,"given":"Rebeca","family":"Pi\u00f1eiro-Sabar\u00eds","sequence":"first","affiliation":[{"name":"Centro Nacional de Investigaciones Cardiovasculares (CNIC) 1 Intercellular Signaling in Cardiovascular Development and Disease Laboratory , , Melchor Fern\u00e1ndez Almagro 3, 28029 Madrid ,","place":["Spain"]},{"name":"Ciber de Enfermedades Cardiovasculares, Instituto de Salud Carlos III 2 , Melchor Fern\u00e1ndez Almagro 3, 28029 Madrid ,","place":["Spain"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2808-8422","authenticated-orcid":false,"given":"Donal","family":"MacGrogan","sequence":"additional","affiliation":[{"name":"Centro Nacional de Investigaciones Cardiovasculares (CNIC) 1 Intercellular Signaling in Cardiovascular Development and Disease Laboratory , , Melchor Fern\u00e1ndez Almagro 3, 28029 Madrid ,","place":["Spain"]},{"name":"Ciber de Enfermedades Cardiovasculares, Instituto de Salud Carlos III 2 , Melchor Fern\u00e1ndez Almagro 3, 28029 Madrid ,","place":["Spain"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6761-7265","authenticated-orcid":false,"given":"Jos\u00e9 Luis","family":"de la Pompa","sequence":"additional","affiliation":[{"name":"Centro Nacional de Investigaciones Cardiovasculares (CNIC) 1 Intercellular Signaling in Cardiovascular Development and Disease Laboratory , , Melchor Fern\u00e1ndez Almagro 3, 28029 Madrid ,","place":["Spain"]},{"name":"Ciber de Enfermedades Cardiovasculares, Instituto de Salud Carlos III 2 , Melchor Fern\u00e1ndez Almagro 3, 28029 Madrid ,","place":["Spain"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"237","published-online":{"date-parts":[[2024,9,10]]},"reference":[{"key":"2025061107063572700_DMM050934C1","doi-asserted-by":"publisher","first-page":"e13027","DOI":"10.1111\/eci.13027","article-title":"Variants in cardiac GATA genes associated with bicuspid aortic valve","volume":"48","author":"Alonso-Montes","year":"2018","journal-title":"Eur. 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