Title:
GENETICALLY MODIFIED NON-HUMAN ANIMAL, AND METHOD FOR SCREENING FOR THERAPEUTIC AGENT OR PROPHYLACTIC AGENT FOR SPINOCEREBELLAR DEGENERATION
Document Type and Number:
WIPO Patent Application WO/2019/163166
Kind Code:
A1
Abstract:
A genetically modified non-human animal is an animal in which, in a gene encoding T-type calcium channel Cav3.1 in one or both of the homologous chromosomes thereof, a triplet encoding arginine that is the seventh amino acid as counted from the N-terminal of an amino acid sequence represented by Arg-Ile-Met-Arg-Val-Leu-Arg-Ile-Ala-Arg as observed from the N-terminal to the C-terminal in S4 domain in repeat IV in the Cav3.1 is substituted by a triplet encoding an amino acid other than arginine.
Inventors:
KAWAKAMI HIDESHI (JP)
MORINO HIROYUKI (JP)
MATSUDA YUKIKO (JP)
MORINO HIROYUKI (JP)
MATSUDA YUKIKO (JP)
Application Number:
PCT/JP2018/031919
Publication Date:
August 29, 2019
Filing Date:
August 29, 2018
Export Citation:
Assignee:
UNIV HIROSHIMA (JP)
International Classes:
A01K67/027; C12N15/09; G01N33/15; G01N33/48; G01N33/50
Domestic Patent References:
| WO2015053402A1 | 2015-04-16 |
Other References:
MATSUDA, Y. ET AL.: "213.11/Q2- A mutation of the spinocerebellar ataxia gene CACNA1G induces cerebellar Purkinje cell death and ataxia in mice", NEUROSCIENCE, 12 November 2017 (2017-11-12), XP055632348, Retrieved from the Internet [retrieved on 20181109]
MORINO, TOYOYUKI ET AL.: "Clinic of SCA42 and molecular pathogenesis mechanism", NEUROLOGICAL THERAPEUTICS, vol. 34, no. 6, 2017, pages S111, XP055632381, ISSN: 0916-8443
MORINO, H. ET AL.: "A mutation in the low voltage-gated calcium channel CACNA1G alters the physiological properties of the channel, causing spinocerebellar ataxia", MOLECULAR BRAIN, vol. 8, no. 89, 2015, pages 1 - 9, XP055632388, ISSN: 1756-6606
COUTELIER, M. ET AL.: "A recurrent mutation in CACNA1G alters Cav3.1 T-type calcium-channel conduction and causes autosomal-dominant cerebellar ataxia", THE AMERICAN JOURNAL OF HUMAN GENETICS, vol. 97, no. 5, 2015, pages 726 - 737, XP055632393, ISSN: 0002-9297
MORINO, TOYOYUKI ET AL.: "Clinic of SCA42 and molecular pathogenesis mechanism", NEUROLOGICAL THERAPEUTICS, vol. 34, no. 6, 2017, pages S111, XP055632381, ISSN: 0916-8443
MORINO, H. ET AL.: "A mutation in the low voltage-gated calcium channel CACNA1G alters the physiological properties of the channel, causing spinocerebellar ataxia", MOLECULAR BRAIN, vol. 8, no. 89, 2015, pages 1 - 9, XP055632388, ISSN: 1756-6606
COUTELIER, M. ET AL.: "A recurrent mutation in CACNA1G alters Cav3.1 T-type calcium-channel conduction and causes autosomal-dominant cerebellar ataxia", THE AMERICAN JOURNAL OF HUMAN GENETICS, vol. 97, no. 5, 2015, pages 726 - 737, XP055632393, ISSN: 0002-9297
Attorney, Agent or Firm:
KIMURA Mitsuru (JP)
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