Article
Construction of pathogenic Sec16a mutation mouse model using CRISPR/Cas9.
Animal models and experimental medicine - 1 Mar 2026
Hu Yaqiang, Zeng Zhiyang, Ming Xinyu, Yin Shuming, Guan Yuting, Gao Liangcai, Li Dali
Abstract excerpt
BACKGROUND: SEC16A is a pivotal protein that facilitates the transport of proteins from the endoplasmic reticulum to the Golgi apparatus. Utilizing the protein structure function database, a potentially pathogenic mutation site (NM_014866.1: c.4606C>G(p.L1536V)) was pinpointed within the conserved central core region of the human SEC16A protein, a component integral to the COPII complex assembly. METHODS:...
Topics
- Animals
- CRISPR-Cas Systems
- Disease Models, Animal
- Mutation
- Mice
- Vesicular Transport Proteins
- Humans
- Mice, Inbred C57BL
- Male