| Budget Amount *help |
¥5,330,000 (Direct Cost: ¥4,100,000、Indirect Cost: ¥1,230,000)
Fiscal Year 2014: ¥2,210,000 (Direct Cost: ¥1,700,000、Indirect Cost: ¥510,000)
Fiscal Year 2013: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
Fiscal Year 2012: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
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| 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.
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