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| A novel gene causing a mendelian audiogenic mouse epilepsy |
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| Author(s): Skradski SL, Clark AM, Jiang HM, White HS, Fu YH, Ptacek LJ |
| Source: NEURON Volume: 31 Issue: 4 Pages: 537-544 Published: AUG 30 2001 |
| Times Cited: 83 References: 41 |
| 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. |
| Document Type: Article |
| Language: English |
| Reprint Address: Ptacek, LJ (reprint author), Univ Utah, Howard Hughes Med Inst, Salt Lake City, UT 84112 USA |
Addresses:
1. Univ Utah, Howard Hughes Med Inst, Salt Lake City, UT 84112 USA
2. Univ Utah, Dept Pharmacol & Toxicol, Salt Lake City, UT 84112 USA
3. Univ Utah, Dept Human Genet, Salt Lake City, UT 84112 USA
4. Univ Utah, Anticonvulsant Screening Project, Salt Lake City, UT 84112 USA
5. Univ Utah, Dept Neurobiol & Anat, Salt Lake City, UT 84112 USA
6. Univ Utah, Dept Neurol, Salt Lake City, UT 84112 USA
7. Univ Utah, Program Neurosci, Salt Lake City, UT 84112 USA |
| Publisher: CELL PRESS, 1100 MASSACHUSETTES AVE,, CAMBRIDGE, MA 02138 USA |
| Subject Category: Neurosciences |
| IDS Number: 468LM |
| ISSN: 0896-6273 |
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| | | | | | | | | Record from Web of Science® | | | | | | | | | |