{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T09:33:25Z","timestamp":1790760805942,"version":"4.1.0"},"reference-count":51,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2021,3,27]],"date-time":"2021-03-27T00:00:00Z","timestamp":1616803200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["anatomypubs.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Developmental Dynamics"],"published-print":{"date-parts":[[2021,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Orofacial clefts (OFCs) are common birth defects with complex etiology. Genome wide association studies for OFC have identified SNPs in and near <jats:italic>MAFB<\/jats:italic>. MAFB is a transcription factor critical for structural development of digits, kidneys, skin, and brain. <jats:italic>MAFB<\/jats:italic> is also expressed in the craniofacial region. Previous sequencing of <jats:italic>MAFB<\/jats:italic> in a Filipino population revealed a novel missense variant significantly associated with an increased risk for OFC. This <jats:italic>MAFB<\/jats:italic> variant, leading to the amino acid change H131Q, was knocked into the mouse <jats:italic>Mafb<\/jats:italic>, resulting in the <jats:italic>Mafb<\/jats:italic><jats:sup><jats:italic>H131Q<\/jats:italic><\/jats:sup> allele. The <jats:italic>Mafb<\/jats:italic><jats:sup><jats:italic>H131Q<\/jats:italic><\/jats:sup> construct was engineered to allow for deletion of <jats:italic>Mafb<\/jats:italic> (\u201c<jats:italic>Mafb<\/jats:italic><jats:sup><jats:italic>del<\/jats:italic><\/jats:sup>\u201d).<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p><jats:italic>Mafb<\/jats:italic><jats:sup><jats:italic>del\/del<\/jats:italic><\/jats:sup> animals died shortly after birth. Conversely, <jats:italic>Mafb<\/jats:italic><jats:sup><jats:italic>H131Q\/H131Q<\/jats:italic><\/jats:sup> mice survived into adulthood at Mendelian ratios. <jats:italic>Mafb<\/jats:italic><jats:sup><jats:italic>del\/del<\/jats:italic><\/jats:sup> and <jats:italic>Mafb<\/jats:italic><jats:sup><jats:italic>H131Q\/H131Q<\/jats:italic><\/jats:sup> heads exhibited normal macroscopic and histological appearance at all embryonic time points evaluated. The periderm was intact based on expression of keratin 6, p63, and E\u2010cadherin. Despite no effect on craniofacial morphogenesis, H131Q inhibited the Mafb\u2010dependent promoter activation of Arhgap29 in palatal mesenchymal, but not ectodermal\u2010derived epithelial cells in a luciferase assay.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Mafb is dispensable for murine palatogenesis <jats:italic>in vivo<\/jats:italic>, and the cleft\u2010associated variant H131Q, despite its lack of morphogenic effect, altered the expression of <jats:italic>Arhgap29<\/jats:italic> in a cell\u2010dependent context.<\/jats:p><\/jats:sec>","DOI":"10.1002\/dvdy.327","type":"journal-article","created":{"date-parts":[[2021,3,14]],"date-time":"2021-03-14T06:47:20Z","timestamp":1615704440000},"page":"1463-1476","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["The <i>Mafb<\/i> cleft\u2010associated variant <scp>H131Q<\/scp> is not required for palatogenesis in the mouse"],"prefix":"10.1002","volume":"250","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5049-0680","authenticated-orcid":false,"given":"Brian J.","family":"Paul","sequence":"first","affiliation":[{"name":"Department of Anatomy and Cell Biology The University of Iowa  Iowa City Iowa USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristina J.","family":"Palmer","sequence":"additional","affiliation":[{"name":"The Jackson Laboratory  Bar Harbor Maine USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lindsey","family":"Rhea","sequence":"additional","affiliation":[{"name":"Department of Anatomy and Cell Biology The University of Iowa  Iowa City Iowa USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melissa","family":"Carlson","sequence":"additional","affiliation":[{"name":"Department of Anatomy and Cell Biology The University of Iowa  Iowa City Iowa USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jocelyn C.","family":"Sharp","sequence":"additional","affiliation":[{"name":"The Jackson Laboratory  Bar Harbor Maine USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C. Herbert","family":"Pratt","sequence":"additional","affiliation":[{"name":"The Jackson Laboratory  Bar Harbor Maine USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephen A.","family":"Murray","sequence":"additional","affiliation":[{"name":"The Jackson Laboratory  Bar Harbor Maine USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5182-8874","authenticated-orcid":false,"given":"Martine","family":"Dunnwald","sequence":"additional","affiliation":[{"name":"Department of Anatomy and Cell Biology The University of Iowa  Iowa City Iowa 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