Invention Application
- Patent Title: GENETICALLY MODIFIED RAT HAVING PKHD1L1 GENE WITH POINT MUTATION AND METHODS FOR ITS CONSTRUCTION, DETECTION AND USE
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Application No.: US18948566Application Date: 2024-11-15
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Publication No.: US20250064034A1Publication Date: 2025-02-27
- Inventor: Peimin YU , Xiantao LI , Yimin SUN , Lan XU , Yue WANG
- Applicant: HUASHAN HOSPITAL AFFILIATED TO FUDAN UNIVERSITY
- Applicant Address: CN Shanghai
- Assignee: HUASHAN HOSPITAL AFFILIATED TO FUDAN UNIVERSITY
- Current Assignee: HUASHAN HOSPITAL AFFILIATED TO FUDAN UNIVERSITY
- Current Assignee Address: CN Shanghai
- Priority: CN202211558984.6 20221206,CN202310770803.4 20230628
- Main IPC: A01K67/0278
- IPC: A01K67/0278 ; A61B5/00 ; A61B5/383 ; C12N9/22 ; C12N15/11 ; C12N15/66 ; C12Q1/686 ; C12Q1/6888

Abstract:
A genetically-modified rat having a PKHD1L1 gene with a point or other mutation and a construction method thereof are disclosed. A CRISPR/Cas9 system knocks the PKHD1L1 gene into a mouse source, and a codon changes from TTA to TCA to construct the mutant PKHD1L1 gene. The genetically-modified rat can be applied to epilepsy pathogenesis studies and design and testing of new anti-epileptic drugs. Methods for detecting abnormal cortical excitability and detecting an epileptic phenotype of an animal can use the genetically-modified rat. A somatosensory evoked potential is used to detect whether the genetically-modified rat has an abnormal cortical excitability phenotype, so as to confirm whether the rat can be a successful model for testing anti-epileptic drugs. The method can detect abnormal cortical excitability and verify the effectiveness of anti-epileptic drugs or treatments.
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