Figure 2

Figure 2

Phenotypic consequences of KDM5C variants and behavioral assays of zebrafish larvae in zebrafish models. (A, C) Representative phenotypic images of six groups at 72 hpf. Embryos expressing KDM5C c.3019del or KDM5C c.782-2A>T exhibited reduced body length, head size, and eye area compared with control and wild-type (WT) groups. Co-injection with WT KDM5C mRNA rescued these phenotypic defects. Scale bar = 500 μm. (B) Quantification of head area (n =10 per group). (D) Quantification of body length (n =10 per group). (E) Quantification of eye area (n =10 per group). (F) Representative Alcian blue staining images of six groups at 120 hpf. Both KDM5C variants significantly reduced cartilage size and disrupted cartilage morphology. Scale bar = 500 μm. (G) Quantification of Alcian blue–stained cartilage area (n =3 per group). Data are expressed as mean ± SD. no significant difference; ^*p < 0.05; ^**p < 0.01; ^***p < 0.001. (H) Representative locomotor tracking plots for six experimental groups at 120 hpf. (I) Quantification of total distance traveled by larvae (n =10 per group) over time. (J) Quantification of swimming speed for larvae (n =10 per group). ANOVA was used to compare data among groups. Data are expressed as mean ± SD. ns, no significant, ^*p < 0.05; ^**p < 0.01; ^***p < 0.001; ^****P < 0.0001.