{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T03:06:40Z","timestamp":1777432000911,"version":"3.51.4"},"reference-count":32,"publisher":"Oxford University Press (OUP)","issue":"3","license":[{"start":{"date-parts":[[2008,11,1]],"date-time":"2008-11-01T00:00:00Z","timestamp":1225497600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2008,11,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>The auxiliary spliceosomal protein SCNM1 contributes to recognition of nonconsensus splice donor sites. SCNM1 was first identified as a modifier of the severity of a sodium channelopathy in the mouse. The most severely affected strain, C57BL\/6J, carries the variant allele SCNM1R187X, which is defective in splicing the mutated donor site in the Scn8amedJ transcript. To further probe the in vivo function of SCNM1, we constructed a floxed allele and generated a mouse with constitutive deletion of exons 3\u20135. The SCNM1\u03943-5 protein is produced and correctly localized to the nucleus, but is more functionally impaired than the C57BL\/6J allele. Deficiency of SCNM1 did not significantly alter other brain transcripts. We characterized an ENU-induced allele of Scnm1 and evaluated the ability of wild-type SCNM1 to rescue lethal mutations of I-mfa and Brunol4. The phenotypes of the Scnm1\u03943-5 mutant confirm the role of this splice factor in processing the Scn8amedJ transcript and provide a new allele of greater severity for future studies.<\/jats:p>","DOI":"10.1534\/genetics.108.094227","type":"journal-article","created":{"date-parts":[[2008,9,15]],"date-time":"2008-09-15T00:42:51Z","timestamp":1221439371000},"page":"1419-1427","source":"Crossref","is-referenced-by-count":8,"title":["A Targeted Deleterious Allele of the Splicing Factor SCNM1 in the Mouse"],"prefix":"10.1093","volume":"180","author":[{"given":"Viive M","family":"Howell","sequence":"first","affiliation":[{"name":"Department of Human Genetics, University of Michigan, Ann Arbor, Michigan 48109-5618"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Georgius","family":"de Haan","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, University of Michigan, Ann Arbor, Michigan 48109-5618"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sarah","family":"Bergren","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, University of Michigan, Ann Arbor, Michigan 48109-5618"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Julie M","family":"Jones","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, University of Michigan, Ann Arbor, Michigan 48109-5618"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cymbeline T","family":"Culiat","sequence":"additional","affiliation":[{"name":"Oak Ridge National Laboratory, Oak Ridge, Tennessee 37831-6445 and"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Edward J","family":"Michaud","sequence":"additional","affiliation":[{"name":"Oak Ridge National Laboratory, Oak Ridge, Tennessee 37831-6445 and"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wayne N","family":"Frankel","sequence":"additional","affiliation":[{"name":"The Jackson Laboratory, Bar Harbor, Maine 04609"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Miriam H","family":"Meisler","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, University of Michigan, Ann Arbor, Michigan 48109-5618"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2008,11,1]]},"reference":[{"key":"2022011503480263600_BIB1","doi-asserted-by":"crossref","first-page":"967","DOI":"10.1126\/science.1086187","volume":"301","year":"2003","journal-title":"Science"},{"key":"2022011503480263600_BIB2","doi-asserted-by":"crossref","first-page":"731","DOI":"10.1016\/S0092-8674(00)80148-8","volume":"86","year":"1996","journal-title":"Cell"},{"key":"2022011503480263600_BIB3","doi-asserted-by":"crossref","first-page":"2425","DOI":"10.1101\/gad.13.18.2425","volume":"13","year":"1999","journal-title":"Genes Dev."},{"key":"2022011503480263600_BIB4","doi-asserted-by":"crossref","first-page":"422","DOI":"10.1038\/sj.gene.6363802","volume":"2","year":"2001","journal-title":"Genes Immun."},{"key":"2022011503480263600_BIB5","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1002\/ana.21290","volume":"63","year":"2008","journal-title":"Ann. 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