Construction of a model of retinal pigment degeneration disease and application thereof
By introducing the c.253delC mutation of the Cnga1 gene and a humanized simulated sequence into non-human animal cells, a model of retinitis pigmentosa was constructed, which solved the problem that existing models do not match the human disease process and achieved stable and accurate disease simulation and drug screening results.
Patent Information
- Authority / Receiving Office
- CN · China
- Patent Type
- Applications(China)
- Current Assignee / Owner
- SHANGHAI FIRST PEOPLES HOSPITAL
- Filing Date
- 2026-04-10
- Publication Date
- 2026-06-05
AI Technical Summary
Existing animal models of retinitis pigmentosa cannot accurately simulate the human disease process, exhibiting problems such as phenotypic instability and mismatch between disease progression, making them difficult to use for effective mechanism research and drug screening.
By introducing specific point mutations in the Cnga1 gene, particularly the c.253delC mutation, into non-human animal cells, and combining them with humanized mimic sequences and tracer protein tags, a retinal lesion model was constructed using CRISPR/Cas9 technology to accurately simulate the progressive lesions of human retinitis pigmentosa.
It provides a stable animal model with consistent genetic traits, which can realistically replicate the pathological process of human retinitis pigmentosa, support drug screening and gene therapy validation, and improve the accuracy and efficiency of research.
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