International Journal of Marine Science, 2024, Vol.14, No.5, 332-340 http://www.aquapublisher.com/index.php/ijms 334 Syndrome have been used to study retinal dystrophy and other tissue-specific phenotypes, revealing distinct mechanisms depending on the affected gene (Figure 1) (Rusterholz et al., 2022). In nephronophthisis models, ciliary phenotypes are assessed in various developmental structures, such as Kupffer's vesicle, to understand the impact of gene knockdown on ciliary function. Advanced imaging techniques, including transmission electron microscopy (TEM) and electron tomography (ET), have been employed to characterize ciliary structures in zebrafish, providing high-resolution data on ciliary morphology and aiding in the validation of zebrafish as a model for primary ciliary dyskinesia (PCD) (Pinto et al., 2021). These phenotypic analyses are crucial for understanding the pathomechanisms of ciliopathies and developing potential therapeutic interventions. Figure 1 Various types of motile and immotile cilia in zebrafish show distinct acetylated tubulin or Arl13b signal patterns (Adopted from Rusterholz et al., 2022) Image caption: A: Wild-type zebrafish larvae; B: cc2d2a gene knockout mutant larvae; C: Wild-type embryo; D: togram1 gene knockout embryo; E: Wild-type adult zebrafish; F: togram1 gene knockout adult zebrafish; G: Neural cilia of wild-type zebrafish shown with green label (acetylated α-tubulin) and magenta label (Arl13b); H: Significant reduction and structural defects of cilia after togram1 knockout; I: Cross-section of wild-type zebrafish retina; J: Comparison between wild-type and armc9 gene knockout; K: Acetylated α-tubulin (green) and Arl13b (magenta) labeling in wild-type cilia; L: Corresponding labeling in togram1 knockout cilia, showing significantly weakened dual labeling signals; M: Immunofluorescence labeling in wild-type photoreceptor cells; N: Ciliary structure of photoreceptors after cc2d2agene knockout (Adapted from Rusterholz et al., 2022) 4 Molecular Mechanisms Underlying Ciliary Dysfunction 4.1 Defective ciliary structure and function Ciliary defects can lead to a variety of human diseases known as ciliopathies, which include conditions such as polycystic kidney disease, primary ciliary dyskinesia, and retinal degeneration. In zebrafish, the knockdown of
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