title: A novel gene causing a mendelian audiogenic mouse epilepsy.
abstract: Frings mice are a model of generalized epilepsy and have seizures in response to loud noises. This phenotype is due to the autosomal recessive inheritance of a single gene on mouse chromosome 13. Here we report the fine genetic and physical mapping of the locus. Sequencing of the region led to identification of a novel gene; mutant mice are homozygous for a single base pair deletion that leads to premature termination of the encoded protein. Interestingly, the mRNA levels of this gene in various tissues are so low that the cDNA has eluded detection by standard library screening approaches. Study of the MASS1 protein will lead to new insights into regulation of neuronal excitability and a new pathway through which dysfunction can lead to epilepsy.
authors.affiliation: Department of Pharmacology and Toxicology, University of Utah, Salt Lake City 84112, USA.
authors.forename: S L
authors.initials: SL
authors.lastname: Skradski
authors.forename: A M
authors.initials: AM
authors.lastname: Clark
authors.forename: H
authors.initials: H
authors.lastname: Jiang
authors.forename: H S
authors.initials: HS
authors.lastname: White
authors.forename: Y H
authors.initials: YH
authors.lastname: Fu
authors.forename: L J
authors.initials: LJ
authors.lastname: Ptácek
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D002874:Chromosome Mapping; D003001:Cloning, Molecular; D018076:DNA, Complementary; D020195:Epilepsy, Reflex / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D051379:Mice; D008810:Mice, Inbred C57BL; D008818:Mice, Neurologic Mutants / Q000235:genetics*; D008969:Molecular Sequence Data; D009419:Nerve Tissue Proteins / Q000235:genetics*; D043562:Receptors, G-Protein-Coupled
chemical_list: D018076:DNA, Complementary; D008565:Membrane Proteins; D009419:Nerve Tissue Proteins; D043562:Receptors, G-Protein-Coupled; C417525:ADGRV1 protein, human; C485949:Adgrv1 protein, mouse