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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   m/m  and sox11b m/m  . We found that the sox11a m/m  mutant possessed Coffin-Siris syndrome features. The sox11a m/m  mutants exhibited growth deficiency from 3.3 hpf embryos to adulthood. Furthermore, the sox11a m/m  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 m/m  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 m/m  mutant zebrafish offered a potential model system to help with the search for pathogenic mechanisms of human Coffin-Siris syndrome.

Multiple Developmental Defects in sox11a Mutant Zebrafish with Features of Coffin-Siris Syndrome