A novel gene causing a mendelian audiogenic mouse epilepsy

Frings mice are a model of generalized epilepsy and have seizures in respon se to loud noises. This phenotype is due to the autosomal recessive inherit ance of a single gene on mouse chromosome 13. Here we report the fine genet ic and physical mapping of the locus. Sequencing of the region led to ident ification of a novel gene; mutant mice are homozygous for a single base pai r deletion that leads to premature termination of the encoded protein. Inte restingly, the mRNA levels of this gene in various tissues are so low that the cDNA has eluded detection by standard library screening approaches. Stu dy of the MASS1 protein will lead to new insights into regulation of neuron al excitability and a new pathway through which dysfunction can lead to epi lepsy.