Characterization of Ehhc1 conditional knockout mouse and understand the pathology of epilepsy

2014 Fiscal Year Final Research Report

• Project/Area Number: 24591689
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Psychiatric science
• Research Institution: The Institute of Physical and Chemical Research
• Principal Investigator: SUZUKI TOSHIMITSU 独立行政法人理化学研究所, 脳科学総合研究センター, 研究員 (20373318)
• Project Period (FY): 2012-04-01 – 2015-03-31
• Keywords: てんかん / ＥＦＨＣ１ / 若年性ミオクロニーてんかん / マウスモデル

Outline of Final Research Achievements

To address the putative relevance of EFHC1 in epilepsies, we characterized Efhc1-conditional knock-out mice. Efhc1 gene encodes a protein of 648 amino acids in mouse, named as myoclonin1 that harbors three tandemly repeated DM10 domains and one EF-hand motif at the C-terminus. We obtained mice with a floxed Efhc1 allele, containing two loxP cassettes placed on either side of coding exon. We next generated mice with heterozygous Efhc1 deletion in specific cell type by crossing Efhc1 floxed and Cre transgenic mouse that is expressed Cre recombinase in specific cell type. We confirmed that expression level of myoclonin1 was reduced at targeted cells. We next investigated the frequency of spontaneous myoclonus and the threshold of seizures induced by pentylenetetrazol. We are validating the result of seizure susceptibility in mutant mice.

Free Research Field

分子遺伝学