| pubmed-article:18791226 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:18791226 | lifeskim:mentions | umls-concept:C0025914 | lld:lifeskim |
| pubmed-article:18791226 | lifeskim:mentions | umls-concept:C0026809 | lld:lifeskim |
| pubmed-article:18791226 | lifeskim:mentions | umls-concept:C0035687 | lld:lifeskim |
| pubmed-article:18791226 | lifeskim:mentions | umls-concept:C0002085 | lld:lifeskim |
| pubmed-article:18791226 | lifeskim:mentions | umls-concept:C1427938 | lld:lifeskim |
| pubmed-article:18791226 | lifeskim:mentions | umls-concept:C1521761 | lld:lifeskim |
| pubmed-article:18791226 | lifeskim:mentions | umls-concept:C0599894 | lld:lifeskim |
| pubmed-article:18791226 | lifeskim:mentions | umls-concept:C1521840 | lld:lifeskim |
| pubmed-article:18791226 | pubmed:issue | 3 | lld:pubmed |
| pubmed-article:18791226 | pubmed:dateCreated | 2008-11-12 | lld:pubmed |
| pubmed-article:18791226 | pubmed:abstractText | 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 Scn8a(medJ) transcript. To further probe the in vivo function of SCNM1, we constructed a floxed allele and generated a mouse with constitutive deletion of exons 3-5. The SCNM1Delta3-5 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 Scnm1Delta3-5 mutant confirm the role of this splice factor in processing the Scn8a(medJ) transcript and provide a new allele of greater severity for future studies. | lld:pubmed |
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| pubmed-article:18791226 | pubmed:language | eng | lld:pubmed |
| pubmed-article:18791226 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:18791226 | pubmed:citationSubset | IM | lld:pubmed |
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| pubmed-article:18791226 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:18791226 | pubmed:month | Nov | lld:pubmed |
| pubmed-article:18791226 | pubmed:issn | 0016-6731 | lld:pubmed |
| pubmed-article:18791226 | pubmed:author | pubmed-author:MeislerMiriam... | lld:pubmed |
| pubmed-article:18791226 | pubmed:author | pubmed-author:FrankelWayne... | lld:pubmed |
| pubmed-article:18791226 | pubmed:author | pubmed-author:MichaudEdward... | lld:pubmed |
| pubmed-article:18791226 | pubmed:author | pubmed-author:JonesJulie... | lld:pubmed |
| pubmed-article:18791226 | pubmed:author | pubmed-author:CuliatCymbeli... | lld:pubmed |
| pubmed-article:18791226 | pubmed:author | pubmed-author:HowellViive... | lld:pubmed |
| pubmed-article:18791226 | pubmed:author | pubmed-author:de... | lld:pubmed |
| pubmed-article:18791226 | pubmed:author | pubmed-author:BergrenSarahS | lld:pubmed |
| pubmed-article:18791226 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:18791226 | pubmed:volume | 180 | lld:pubmed |
| pubmed-article:18791226 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:18791226 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:18791226 | pubmed:pagination | 1419-27 | lld:pubmed |
| pubmed-article:18791226 | pubmed:dateRevised | 2011-10-10 | lld:pubmed |
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