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Construction of pathogenic Sec16a mutation mouse model using CRISPR/Cas9
Yaqiang Hu1, Zhiyang Zeng2, Xinyu Ming1
1Shanghai Frontiers Science Center of Genome Editing and Cell Therapy, Shanghai Key Laboratory of Regulatory Biology, Institute of Biomedical Sciences and School of Life Sciences, East China Normal University, Shanghai, China.
Animal Models and Experimental Medicine
|October 17, 2025
Summary
A new mouse model with a SEC16A mutation shows impaired learning and memory, along with clasping behavior. This model aids in understanding brain dysfunction caused by SEC16A gene mutations.
Area of Science:
- Molecular Biology
- Neuroscience
- Genetics
Background:
- SEC16A protein is crucial for protein transport from the endoplasmic reticulum to the Golgi apparatus.
- A specific mutation (c.4606C>G) in SEC16A was identified within a conserved region.
- SEC16A is integral to the COPII complex assembly.
Purpose of the Study:
- To develop a mouse model for studying the pathogenic mechanisms of SEC16A mutations.
- To investigate the role of SEC16A in neurological function and brain diseases.
Main Methods:
- Developed the Sec16aL1551V/L1551V mouse model using CRISPR/Cas9 technology.
- Aligned human and mouse protein sequences to guide model creation.
- Utilized behavioral experiments like novel object recognition and cued fear conditioning.
Main Results:
- Sec16aL1551V/L1551V mice exhibited impaired learning and memory.
- Mice displayed a characteristic limb clasping behavior during tail suspension.
- This phenotype suggests neurological impairment and potential neurodegeneration.
Conclusions:
- The Sec16aL1551V/L1551V mouse model is a valuable tool for studying SEC16A-related brain dysfunction.
- This model facilitates research into the pathogenic mechanisms of SEC16A gene mutations.
- Provides insights into neurodegenerative disease models.
