| First Author | Howell VM | Year | 2008 |
| Journal | Genetics | Volume | 180 |
| Issue | 3 | Pages | 1419-27 |
| PubMed ID | 18791226 | Mgi Jnum | J:141236 |
| Mgi Id | MGI:3817801 | Doi | 10.1534/genetics.108.094227 |
| Citation | Howell VM, et al. (2008) A Targeted Deleterious Allele of the Splicing Factor SCNM1 in the Mouse. Genetics 180(3):1419-27 |
| 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 SCNM1(R187X), 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 SCNM1(Delta3-5) 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(Delta3-5) 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. |
