Toshimitsu Suzuki, Hiroyuki Miyamoto, Takashi Nakahari, Ikuyo Inoue, Takahiro Suemoto, Bin Jiang, Yuki Hirota, Shigeyoshi Itohara, Takaomi C Saido, Tadaharu Tsumoto, Kazunobu Sawamoto, Takao K Hensch, Antonio V Delgado-Escueta, Kazuhiro Yamakawa
Mutations in EFHC1 gene have been previously reported in patients with epilepsies, including those with juvenile myoclonic epilepsy. Myoclonin1, also known as mRib72-1, is encoded by the mouse Efhc1 gene. Myoclonin1 is dominantly expressed in embryonic choroid plexus, post-natal ependymal cilia, tracheal cilia and sperm flagella. In this study, we generated viable Efhc1-deficient mice. Most of the mice were normal in outward appearance, and both sexes were found to be fertile. However, the ventricles of the brains were significantly enlarged in the null mutants, but not in the heterozygotes...
March 15, 2009: Human Molecular Genetics