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Fig. 5 | Genome Medicine

Fig. 5

From: Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity

Fig. 5

Cell apoptosis was activated by ogdhl loss-of-function. A–C Representative image of uninjected, ogdhl F0 and ogdhl F0 co-injected with human OGDHL embryos at 3 dpf after TUNEL staining. Scale bars = 100 μm. A Lateral view of eyes. Anterior to the left and dorsal to the top. B Dorsal view of brains. Anterior to the left. C Lateral view of trunks. Anterior to the left and dorsal to the top. D–G Quantification of the number of TUNEL-positive cells in the eye, midbrain, hindbrain, and spinal cords. The mean value of each group is indicated at the bottom of the respective bar in the figure. TUNEL-positive cells were calculated as a percentage difference compared to the mean value of uninjected embryos. In D, each dot represents one eye. uninjected = 31, ogdhl F0 = 36 and F0 + OGDHL = 38 eyes. In E–G, each dot represents one animal. uninjected = 16, ogdhl F0 = 18 and F0 + OGDHL = 19 animals. 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 < 0.01, ***p < 0.001, and ****p < 0.0001

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