Fig. 3
From: Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity
The morphological phenotypes of zebrafish ogdhl F0 knockouts. A Representative embryo images of uninjected, ogdhl F0 and ogdhl F0 co-injected with 200 picogram (pg) human OGDHL mRNA (F0 + OGDHL) at 3 dpf. Arrow denotes heart edema. B,C Size measurements for head (blue line) and eye (red line) as indicated from genotypes in A were calculated as a percentage difference compared to the mean value of the uninjected embryos. D The presence of heart edema (black arrow in A) was calculated as a percentage of total embryos of each group positive for edema. E Locomotor activities of zebrafish larvae in light and dark conditions at 5 dpf, n = 96 larvae for each group. The larvae were habituated in the dark for 30 min, followed by three cycles of 10-min periods of light and dark. Error bars represent the mean ± SEM. Dark period (D), light period (L). F Average cumulative distance traveled by each larva during three cycles of either light or dark periods. Error bars = mean ± SD. For B, C, and F, each dot represents one embryo, and the mean value of each group is indicated at the bottom of the respective bar in the figure. For B–D, the number of embryos for uninjected = 57, Cas9 protein-injected (Cas9 inj.) = 60, ogdhl F0 = 63, F0 + OGDHL (100 pg) = 34, F0 + OGDHL (150 pg) = 35 and F0 + OGDHL (200 pg) = 32. Error bars = mean ± SD. Statistical significance was calculated by Brown–Forsthye and Welch’s ANOVA with Dunnett’s T3 multiple comparisons test: not significant (ns) p ≥ 0.05, *p < 0.05, ***p < 0.001, and ****p < 0.0001