Title:
CONSTRUCTION OF MOUSE MODEL WITH IDIOPATHIC BASAL GANGLIA CALCIFICATION PATHOGENIC GENE MUTATION
Document Type and Number:
WIPO Patent Application WO/2019/227882
Kind Code:
A1
Abstract:
Disclosed are a mouse model with an idiopathic basal ganglia calcification pathogenic gene Slc20a2-c.[1805C>G; 1806C>G] mutation and a construction method therefor, wherein a mutant heterozygous mouse sperm Slc20a2-c.[1805C>G; 1806C>G] has been deposited at the China Center for Type Culture Collection at Wuhan University, with a deposit number of CCTCC NO: C2017256. Experiments have confirmed that the constructed mouse model with the idiopathic basal ganglia calcification pathogenic gene mutation has mimicked a series of clinical phenotypes of human idiopathic basal ganglia calcification (IBGC) patients, indicating the successful construction of the mouse model of the IBGC disease, and laying the foundation for the screening of drugs for treating the idiopathic basal ganglia calcification (IBGC) disease.
Inventors:
LIU JINGYU (CN)
XU XUAN (CN)
WANG CHENG (CN)
XU XUAN (CN)
WANG CHENG (CN)
Application Number:
PCT/CN2018/118843
Publication Date:
December 05, 2019
Filing Date:
December 03, 2018
Export Citation:
Assignee:
UNIV HUAZHONG SCIENCE TECH (CN)
International Classes:
C12N15/12; A61K35/52; C12N5/07
Foreign References:
| CN106834299A | 2017-06-13 | |||
| CN102888406A | 2013-01-23 |
Other References:
WANG, CHENG ET AL, HEREDITAS, vol. 37, no. 8, 31 August 2015 (2015-08-31), pages 731 - 740
HOZUMI, I.: "Inorganic phosphorus (Pi) in CSF is a biomarker for SLC20A2- associated idiopathic basal ganglia calcification (IBGC1)", JOURNAL OF THE NEUROLOGICAL SCIENCES, vol. 388, May 2018 (2018-05-01), pages 150 - 154, XP055659359
DING, Y. ET AL: "A Novel SLC20A2 Mutation Associated with Familial Idiopathic Basal Ganglia Calcification and Analysis of the Genotype-Phenotype Associa- tion in Chinese Patients", CHINESE MEDICAL JOURNAL, vol. 5, no. 131, 5 April 2018 (2018-04-05), pages 799 - 803, XP055659365
SEKINE SHIN-ICHIRO ET AL: "Induced pluripotent stem cells derived from a patient with familial idiopathic basal ganglia calcification (IBGC) caused by a mutation in SLC20A2 gene", STEM CELL RESEARCH, vol. 24, 1 October 2017 (2017-10-01), pages 40 - 43, XP055659426
HOZUMI, I.: "Inorganic phosphorus (Pi) in CSF is a biomarker for SLC20A2- associated idiopathic basal ganglia calcification (IBGC1)", JOURNAL OF THE NEUROLOGICAL SCIENCES, vol. 388, May 2018 (2018-05-01), pages 150 - 154, XP055659359
DING, Y. ET AL: "A Novel SLC20A2 Mutation Associated with Familial Idiopathic Basal Ganglia Calcification and Analysis of the Genotype-Phenotype Associa- tion in Chinese Patients", CHINESE MEDICAL JOURNAL, vol. 5, no. 131, 5 April 2018 (2018-04-05), pages 799 - 803, XP055659365
SEKINE SHIN-ICHIRO ET AL: "Induced pluripotent stem cells derived from a patient with familial idiopathic basal ganglia calcification (IBGC) caused by a mutation in SLC20A2 gene", STEM CELL RESEARCH, vol. 24, 1 October 2017 (2017-10-01), pages 40 - 43, XP055659426
Attorney, Agent or Firm:
HUAZHONG UNIVERSITY OF SCIENCE AND TECHNOLOGY PATENT AGENCY CENTER (CN)
Download PDF: