{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,11]],"date-time":"2026-02-11T16:21:00Z","timestamp":1770826860513,"version":"3.50.1"},"reference-count":52,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2020,1,14]],"date-time":"2020-01-14T00:00:00Z","timestamp":1578960000000},"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":[[2020,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Splicing factor 3B subunit 4 (<jats:italic>SF3B4<\/jats:italic>) is a causative gene of an acrofacial dysostosis, Nager syndrome. Although in vitro analyses of <jats:italic>SF3B4<\/jats:italic> have proposed multiple noncanonical functions unrelated to splicing, less information is available based on in vivo studies using model animals.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We performed expression and functional analyses of <jats:italic>Sf3b4<\/jats:italic> in mice. The mouse <jats:italic>Sf3b4<\/jats:italic> transcripts were found from two\u2010cell stage, and were ubiquitously present during embryogenesis with high expression levels in several tissues such as forming craniofacial bones and brain. In contrast, expression of a pseudogene\u2010like sequence of mouse <jats:italic>Sf3b4<\/jats:italic> (<jats:italic>Sf3b4_ps<\/jats:italic>) found by in silico survey was not detected up to embryonic day 10. We generated a <jats:italic>Sf3b4<\/jats:italic> knockout mouse using CRISPR\u2010Cas9 system. The homozygous mutant mouse of <jats:italic>Sf3b4<\/jats:italic> was embryonic lethal. The heterozygous mutant of <jats:italic>Sf3b4<\/jats:italic> mouse (<jats:italic>Sf3b4<\/jats:italic><jats:sup>+\/\u2212<\/jats:sup>) exhibited smaller body size compared to the wild\u2010type from postnatal to adult period, as well as homeotic posteriorization of the vertebral morphology and flattened calvaria. The flattened calvaria appears to be attributable to mild microcephaly due to a lower cell proliferation rate in the forebrain.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Our study suggests that <jats:italic>Sf3b4<\/jats:italic> controls anterior\u2010posterior patterning of the axial skeleton and guarantees cell proliferation for forebrain development in mice.<\/jats:p><\/jats:sec>","DOI":"10.1002\/dvdy.148","type":"journal-article","created":{"date-parts":[[2020,1,3]],"date-time":"2020-01-03T22:30:15Z","timestamp":1578090615000},"page":"622-635","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":19,"title":["Heterozygous mutation of the splicing factor <scp><i>Sf3b4<\/i><\/scp> affects development of the axial skeleton and forebrain in mouse"],"prefix":"10.1002","volume":"249","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3496-9461","authenticated-orcid":false,"given":"Takahiko","family":"Yamada","sequence":"first","affiliation":[{"name":"Section of Molecular Craniofacial Embryology, Graduate School of Medical and Dental Sciences Tokyo Medical and Dental University (TMDU)  Tokyo Japan"},{"name":"Section of Maxillofacial Surgery, Graduate School of Medical and Dental Sciences Tokyo Medical and Dental University (TMDU)  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masaki","family":"Takechi","sequence":"additional","affiliation":[{"name":"Section of Molecular Craniofacial Embryology, Graduate School of Medical and Dental Sciences Tokyo Medical and Dental University (TMDU)  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Norisuke","family":"Yokoyama","sequence":"additional","affiliation":[{"name":"Section of Molecular Craniofacial Embryology, Graduate 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