A novel gene causing a mendelian audiogenic mouse epilepsy.
Neuron
; 31(4): 537-44, 2001 Aug 30.
Article
em En
| MEDLINE
| ID: mdl-11545713
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.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Epilepsia Reflexa
/
Receptores Acoplados a Proteínas G
/
Proteínas de Membrana
/
Camundongos Mutantes Neurológicos
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Proteínas do Tecido Nervoso
Tipo de estudo:
Prognostic_studies
Limite:
Animals
/
Female
/
Humans
/
Male
Idioma:
En
Ano de publicação:
2001
Tipo de documento:
Article