Related Experiment Video
Updated: Dec 5, 2025
Visualization of Craniofacial Development in the sox10: kaede Transgenic Zebrafish Line Using Time-lapse Confocal Microscopy
Published on: September 30, 2013
Multiple Developmental Defects in sox11a Mutant Zebrafish with Features of Coffin-Siris Syndrome
Shaoting Jia1,2, Xingxing Wu1,2, Yunya Wu1,2
1State Key Laboratory of Freshwater Ecology and Biotechnology, Institute of Hydrobiology, Chinese Academy of Sciences, Wuhan 430072, China.
Abstract:
A previous study suggested that human Coffin-Siris syndrome is related to the mutation of SOX11. Since the homozygous SOX11 mutant mice died soon after birth, no suitable model was available for the study of the pathogenic mechanism of Coffin-Siris syndrome. To solve this problem, we generated two viable homozygous zebrafish mutants, sox11a and sox11b . We found that the sox11a mutant possessed Coffin-Siris syndrome features. The sox11a mutants exhibited growth deficiency from 3.3 hpf embryos to adulthood. Furthermore, the sox11a mutant also displayed microcephaly, narrow pupillary distance, achondroplasia, and bone deformity in adults. Growth deficiency could be rescued by the injection of sox11a mRNA at the one-cell stage. In addition, the expression levels of genes related to cartilage and bone were downregulated in the sox11a mutant, indicating that sox11a mainly affected the growth and development of zebrafish by regulating the expression of genes related to skeletal development. Our results indicate that sox11a mutant zebrafish offered a potential model system to help with the search for pathogenic mechanisms of human Coffin-Siris syndrome.
Insights
Researchers developed zebrafish models for Coffin-Siris syndrome by studying SOX11 gene mutations. The sox11a mutant zebrafish exhibit key syndrome features, offering a new model for studying this rare genetic disorder.
Area of Science:
- Genetics
- Developmental Biology
- Zebrafish Models
Background:
- Human Coffin-Siris syndrome is linked to SOX11 gene mutations.
- Previous mouse models with SOX11 mutations were not viable for studying disease mechanisms.
Purpose of the Study:
- To create a viable animal model for Coffin-Siris syndrome.
- To investigate the pathogenic mechanisms of SOX11 mutations in zebrafish.
Main Methods:
- Generated homozygous zebrafish mutants for sox11a and sox11b.
- Phenotypic analysis of sox11a mutants from embryonic to adult stages.
- Rescue experiment by injecting sox11a mRNA.
- Gene expression analysis of cartilage and bone-related genes.
Main Results:
- Homozygous sox11a mutant zebrafish displayed features consistent with Coffin-Siris syndrome, including growth deficiency, microcephaly, and skeletal deformities.
- sox11a mutant growth deficiency was rescued by sox11a mRNA injection.
- Downregulation of skeletal development genes was observed in sox11a mutants.
Conclusions:
- The sox11a mutant zebrafish is a viable model for studying Coffin-Siris syndrome.
- sox11a plays a crucial role in zebrafish skeletal development.
- This model can aid in understanding the pathogenesis of human Coffin-Siris syndrome.
