Title:
EPILEPSY MODEL ANIMAL (CHRNA4:S284L)
Document Type and Number:
WIPO Patent Application WO/2005/084428
Kind Code:
A1
Abstract:
An epilepsy model animal (CHRNA4:S284L) which is a nonhuman animal obtained by the ontogenesis of a totipotent cell having a polynucleotide, which encodes a nonhuman CHRNA4 mutant corresponding to a human CHRNA4 mutant with the substitution of Ser at the 284-position in SEQ ID NO:1 by Leu, transferred thereinto or its offspring carrying the above polynucleotide in its somatic cell chromosome. This model animal has a genetic defect homologous with human chromosomal dominant night epilepsy and exhibits the same symptom (epileptic stroke during sleep) as human autosomal dominant night epilepsy.
Inventors:
HIROSE SHINICHI (JP)
KANEKO SUNAO (JP)
OKADA MOTOHIRO (JP)
SAITO RYO (JP)
KANEKO SUNAO (JP)
OKADA MOTOHIRO (JP)
SAITO RYO (JP)
Application Number:
PCT/JP2005/003430
Publication Date:
September 15, 2005
Filing Date:
February 23, 2005
Export Citation:
Assignee:
JAPAN SCIENCE & TECH AGENCY (JP)
HIROSE SHINICHI (JP)
KANEKO SUNAO (JP)
OKADA MOTOHIRO (JP)
SAITO RYO (JP)
HIROSE SHINICHI (JP)
KANEKO SUNAO (JP)
OKADA MOTOHIRO (JP)
SAITO RYO (JP)
International Classes:
A01K67/027; C12N15/09; (IPC1-7): A01K67/027; C12N15/09
Other References:
SAITO R. ET AL: "Characteristic of transgenic rats harboring a mutation underlying human autosomal dominant nacturnal frontal lobe epilepsy (ADNFLE).", J. PHARMACOL. SCI., vol. 94, no. 1, 23 February 2004 (2004-02-23), pages 102, XP002993549
HIROSE S. ET AL: "A novel mutation of CHRNA4 responsible for autosomal dominant nocturnal frontal lobe epilepsy.", NEUROLOGY., vol. 53, no. 8, 10 November 1999 (1999-11-10), pages 1749 - 1753, XP002993550
ROZYCKA A. ET AL: "Evidence for S284L mutation of the CHRNA4 in a whita family with autosomal dominant nocturnal frontal lobe epilepsy.", EPILEPSIA., vol. 44, no. 8, August 2003 (2003-08-01), pages 1113 - 1117, XP002993551
MATSUSHIMA M. ET AL: "Mutation (Ser284Leu) of neuronal nicotinic acetylcholine receptor a4 subunit associated with frontal lobe epilepsy causes faster desensitization of the rat receptor expressed in oocytes.", EPILEPSY RES., vol. 48, 2002, pages 181 - 186, XP002993552
TRIBOLLET E. ET AL: "Role of neuronal nicotinic receptors in the transmission and processing of information in neurons of the central nervous system.", PHARMACOL.BIOCHEM. BEHAV., vol. 70, 2001, pages 457 - 466, XP002993553
HIROSE S. ET AL: "A novel mutation of CHRNA4 responsible for autosomal dominant nocturnal frontal lobe epilepsy.", NEUROLOGY., vol. 53, no. 8, 10 November 1999 (1999-11-10), pages 1749 - 1753, XP002993550
ROZYCKA A. ET AL: "Evidence for S284L mutation of the CHRNA4 in a whita family with autosomal dominant nocturnal frontal lobe epilepsy.", EPILEPSIA., vol. 44, no. 8, August 2003 (2003-08-01), pages 1113 - 1117, XP002993551
MATSUSHIMA M. ET AL: "Mutation (Ser284Leu) of neuronal nicotinic acetylcholine receptor a4 subunit associated with frontal lobe epilepsy causes faster desensitization of the rat receptor expressed in oocytes.", EPILEPSY RES., vol. 48, 2002, pages 181 - 186, XP002993552
TRIBOLLET E. ET AL: "Role of neuronal nicotinic receptors in the transmission and processing of information in neurons of the central nervous system.", PHARMACOL.BIOCHEM. BEHAV., vol. 70, 2001, pages 457 - 466, XP002993553
Attorney, Agent or Firm:
Nishizawa, Toshio (11-1 Minami-Aoyama 6-chom, Minato-ku Tokyo, JP)
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