{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T06:31:37Z","timestamp":1791268297965,"version":"4.1.0"},"reference-count":28,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2010,6,29]],"date-time":"2010-06-29T00:00:00Z","timestamp":1277769600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Birth Defects Research"],"published-print":{"date-parts":[[2010,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p><jats:bold>BACKGROUND:<\/jats:bold> Over 200 mouse genes are associated with neural tube defects (NTDs), including <jats:italic>Cecr2,<\/jats:italic> the bromodomain\u2010containing subunit of the CERF chromatin remodeling complex. <jats:bold>METHODS:<\/jats:bold> Gene\u2010trap mutation <jats:italic>Cecr2<\/jats:italic><jats:sup>Gt45Bic<\/jats:sup> results in 74% exencephaly (equivalent of human anencephaly) on the BALB\/c strain. Gene expression altered during cranial neural tube closure by the <jats:italic>Cecr2<\/jats:italic> mutation was identified through microarray analysis of 11\u201314 somites stage <jats:italic>Cecr2<\/jats:italic><jats:sup><jats:italic>Gt45Bic<\/jats:italic><\/jats:sup>embryos. <jats:bold>RESULTS:<\/jats:bold> Analysis of Affymetrix Mouse 430 2.0 chips detected 60 transcripts up\u2010regulated and 54 transcripts down\u2010regulated in the <jats:italic>Cecr2<\/jats:italic><jats:sup><jats:italic>Gt45Bic<\/jats:italic><\/jats:sup> embryos (fold &gt; 1.5, <jats:italic>p<\/jats:italic> &lt; 0.05). The <jats:italic>Cecr2<\/jats:italic> transcript was reduced only \u223c7\u2010 to 14\u2010fold from normal levels, suggesting the <jats:italic>Cecr2<\/jats:italic><jats:sup><jats:italic>Gt45Bic<\/jats:italic><\/jats:sup> is a hypomorphic mutation. We therefore generated a novel <jats:italic>Cecr2<\/jats:italic> null allele (<jats:italic>Cecr2<\/jats:italic>\n<jats:sup><jats:italic>tm1.1Hemc<\/jats:italic><\/jats:sup>). Resulting mutants displayed a stronger penetrance of exencephaly than <jats:italic>Cecr2<\/jats:italic><jats:sup><jats:italic>Gt45Bic<\/jats:italic><\/jats:sup> in both BALB\/c and FVB\/N strains, in addition to midline facial clefts and forebrain encephalocele in the FVB\/N strain. The <jats:italic>Cecr2<\/jats:italic> transcript is reduced 260\u2010fold in the <jats:italic>Cecr2<\/jats:italic><jats:sup><jats:italic>tm1.1Hemc<\/jats:italic><\/jats:sup> line. Subsequent qRT\u2010PCR using <jats:italic>Cecr2<\/jats:italic>\n<jats:sup><jats:italic>tm1.1Hemc<\/jats:italic><\/jats:sup> mutant heads confirmed downregulation of transcription factors <jats:italic>Alx1<\/jats:italic>\/<jats:italic>Cart1,<\/jats:italic>\n<jats:italic>Dlx5, Eya1,<\/jats:italic> and <jats:italic>Six1<\/jats:italic>. <jats:bold>CONCLUSIONS:<\/jats:bold> As both <jats:italic>Alx1<\/jats:italic>\/<jats:italic>Cart1<\/jats:italic> and <jats:italic>Dlx5<\/jats:italic> mouse mutations result in exencephaly, we hypothesize that changes in expression of these mesenchymal\/ectodermal transcription factors may contribute to NTDs associated with <jats:italic>Cecr2<\/jats:italic>. Birth Defects Research (Part A), 2010. \u00a9 2010 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/bdra.20695","type":"journal-article","created":{"date-parts":[[2010,6,29]],"date-time":"2010-06-29T14:51:23Z","timestamp":1277823083000},"page":"619-625","source":"Crossref","is-referenced-by-count":41,"title":["<i>Cecr2<\/i> mutations causing exencephaly trigger misregulation of mesenchymal\/ectodermal transcription factors"],"prefix":"10.1002","volume":"88","author":[{"given":"Nicholas A.","family":"Fairbridge","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine E.","family":"Dawe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Farshad H.","family":"Niri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Megan K.","family":"Kooistra","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kirst","family":"King\u2010Jones","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heather 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