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Updated: Jun 16, 2026
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Generation of Maternal Mutants Using zpc:cas9 Knock-in Zebrafish
Published on: July 22, 2025
Knockout of bcas3 gene causes neurodevelopment defects in zebrafish
Huihui Liu1, Nianyi Sun1, Zhenxing Liu1
1Key Laboratory of Molecular Biophysics of the Ministry of Education, College of Life Science and Technology, Center for Human Genome Research, Huazhong University of Science and Technology, Wuhan, 430074, China.
Biological Research
|June 6, 2025
Summary
Bcas3 gene mutations cause neurodevelopmental disorders. Zebrafish lacking Bcas3 show developmental delays and motor deficits, linked to increased apoptosis, offering a model for therapeutic research.
Area of Science:
- Neuroscience
- Developmental Biology
- Genetics
Background:
- Neurodevelopmental disorders present early with cognitive, motor, and social impairments.
- Mutations in the BCAS3 gene are linked to syndromic neurodevelopmental disorders, but mechanisms remain unclear.
Purpose of the Study:
- To investigate the pathological mechanisms of BCAS3 mutations using a zebrafish model.
- To explore the role of BCAS3 in early development and behavior.
Main Methods:
- Generated a bcas3 knockout zebrafish model using CRISPR/Cas9.
- Assessed developmental and morphological changes, and analyzed locomotor behaviors.
- Utilized transcriptome sequencing, Acridine Orange staining, Western blot, and RT-PCR to identify molecular pathways and apoptosis.
Main Results:
- Bcas3 knockout zebrafish displayed microcephaly, delayed development, and motor dysfunction, including social impairment and anxiety.
- Human BCAS3 expression rescued these developmental and behavioral defects.
- Downregulation of key developmental and neuronal genes and increased apoptosis in the brain were observed.
Conclusions:
- The bcas3 knockout zebrafish model effectively recapitulates human BCAS3 mutation phenotypes.
- Increased apoptosis in the brain is a potential mechanism underlying developmental and motor deficits.
- This model aids in identifying therapeutic targets for BCAS3-related disorders.
