{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,20]],"date-time":"2026-10-20T00:40:36Z","timestamp":1792456836864,"version":"4.5.0"},"reference-count":0,"publisher":"Oxford University Press (OUP)","license":[{"start":{"date-parts":[[2026,10,20]],"date-time":"2026-10-20T00:00:00Z","timestamp":1792454400000},"content-version":"am","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Pathogenic variants in SNRPB, a common core spliceosomal factor, cause Cerebrocostomandibular Syndrome (CCMS). Most CCMS-associated variants result in increased inclusion of a PTC-containing alternative exon 2 (AE2). Using CRISPR\/Cas9 we generated two mutant mice that carried a 46bp or a 61bp deletion upstream of Snrpb AE2. Mice and embryos carrying the 46bp deletion are normal. Whereas heterozygous and homozygous mutant embryos carrying the 61bp deletion (\u039461) exhibited smaller heads, micrognathia, malformations in the bones of the craniofacial region and ribs, and reduced survival, at low penetrance. Embryos homozygous for \u039461 showed a tendency towards increased inclusion of AE2 and reduced levels of Snrpb. In addition, this deletion increased the penetrance and severity of defects in Snrpbncc and Snrpbmes mutant embryos. Our findings indicate that this intronic region is important for SNRPB regulation in mice and should be investigated in CCMS patients that do not carry mutations in SNRPB coding exons.<\/jats:p>","DOI":"10.1093\/genetics\/iyag290","type":"journal-article","created":{"date-parts":[[2026,10,20]],"date-time":"2026-10-20T00:02:02Z","timestamp":1792454522000},"source":"Crossref","is-referenced-by-count":0,"title":["A Novel CCMS Model Reveals a Critical Intronic Sequence in the\n                    <i>Snrpb<\/i>\n                    Gene that is Required for Normal Development"],"prefix":"10.1093","author":[{"given":"Marie-Claude","family":"Beauchamp","sequence":"first","affiliation":[{"name":"McGill University Health Centre at Glen Site , Montreal, H4A 3J1, Quebec ,","place":["Canada"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sabrina","family":"Alam","sequence":"additional","affiliation":[{"name":"McGill University Health Centre at Glen Site , Montreal, H4A 3J1, Quebec ,","place":["Canada"]},{"name":"Department of Human Genetics, McGill University , Montreal, H3A 1Y2, Quebec ,","place":["Canada"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joshua","family":"Moore","sequence":"additional","affiliation":[{"name":"McGill University Health Centre at Glen Site , Montreal, H4A 3J1, Quebec ,","place":["Canada"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Harriet","family":"White","sequence":"additional","affiliation":[{"name":"Department of Anatomy and Cell Biology, McGill University , Montreal, H3A 0C7, Quebec ,","place":["Canada"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5047-4058","authenticated-orcid":false,"given":"Loydie A","family":"Jerome-Majewska","sequence":"additional","affiliation":[{"name":"McGill University Health Centre at Glen Site , Montreal, H4A 3J1, Quebec ,","place":["Canada"]},{"name":"Department of Human Genetics, McGill University , Montreal, H3A 1Y2, Quebec ,","place":["Canada"]},{"name":"Department of Anatomy and Cell Biology, McGill University , Montreal, H3A 0C7, Quebec ,","place":["Canada"]},{"name":"Department of Pediatrics, McGill University , Montreal, H4A 3J1 Quebec ,","place":["Canada"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2026,10,20]]},"container-title":["GENETICS"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/genetics\/advance-article-pdf\/doi\/10.1093\/genetics\/iyag290\/72116464\/iyag290.pdf","content-type":"application\/pdf","content-version":"am","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/genetics\/advance-article-pdf\/doi\/10.1093\/genetics\/iyag290\/72116464\/iyag290.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,10,20]],"date-time":"2026-10-20T00:02:03Z","timestamp":1792454523000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/genetics\/advance-article\/doi\/10.1093\/genetics\/iyag290\/8943750"}},"subtitle":[],"editor":[{"given":"Amy","family":"Ralston","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"editor"}]}],"short-title":[],"issued":{"date-parts":[[2026,10,20]]},"references-count":0,"URL":"https:\/\/doi.org\/10.1093\/genetics\/iyag290","relation":{},"ISSN":["1943-2631"],"issn-type":[{"value":"1943-2631","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,10,20]]},"article-number":"iyag290"}}