Article
A targeted deleterious allele of the splicing factor SCNM1 in the mouse.
Genetics - 1 Nov 2008
Howell Viive M, de Haan Georgius, Bergren Sarah, Jones Julie M, Culiat Cymbeline T, Michaud Edward J, Frankel Wayne N, Meisler Miriam H
Abstract excerpt
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...
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