SCNM1, a Putative RNA Splicing Factor That Modifies Disease Severity in Mice

The severity of many inherited disorders is influenced by genetic background. We describe a modifier interaction in C57BL/6J mice that converts a chronic movement disorder into a lethal neurological disease. The primary mutation ($med^J$) changes a splice donor site of the sodium channel gene Scn8a...

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Veröffentlicht in:	Science (American Association for the Advancement of Science) 2003-08, Vol.301 (5635), p.967-969
Hauptverfasser:	Buchner, David A., Trudeau, Michelle, Meisler, Miriam H.
Format:	Artikel
Sprache:	eng
Schlagworte:	Alleles Amino Acid Sequence Anatomy Animals Biological and medical sciences Carrier Proteins - chemistry Carrier Proteins - genetics Carrier Proteins - metabolism Chromosome Mapping Codon, Nonsense Codon, Terminator Disease Donors Exons Genes Genetic aspects Genetic disorders Genetic mutation Genetic Predisposition to Disease Genetics Heredity Humans Inbred strains Medical sciences Mice Mice, Inbred C57BL Mice, Inbred Strains Mice, Neurologic Mutants Mice, Transgenic Molecular Sequence Data Movement Disorders - genetics Movement Disorders - metabolism Mutation NAV1.6 Voltage-Gated Sodium Channel Nerve Tissue Proteins Nervous system (semeiology, syndromes) Nervous system as a whole Nervous system diseases Nervous System Diseases - genetics Nervous System Diseases - metabolism Neurological disorders Neurology Phenotype Phylogeny Proteins Reverse Transcriptase Polymerase Chain Reaction Ribonucleic acid RNA RNA Splicing RNA Splicing Factors RNA, Messenger - genetics RNA, Messenger - metabolism Rodents Sodium channels Sodium Channels - genetics Sodium Channels - metabolism Splicing Transcripts (Written Records) Transgenic animals Zinc Fingers
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