FIGURE

Figure 7

ID
ZDB-FIG-240317-7
Publication
Brugger et al., 2024 - Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy
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Figure 7

Zebrafish embryos injected with snf8 MO exhibit altered optic nerve and optic chiasm morphology at 48 hpf partially rescued by SNF8WT

(A) Representative confocal maximum intensity projections of fish fluorescently stained with the antibody against acetylated tubulin (cyan) from not injected (not inj., up), mild, moderate, and severe cases of fish injected with snf8 MO (center) and fish co-injected with snf8 MO and mRNA encoding SNF8WT (bottom). The white asterisks indicate the position of the eye.

(B) Quantification of the percentage of fish showing normal (white) or mild, moderate, or severely aberrant (gradients of cyan) ON phenotypes as described in the main text. n = 15 (not inj.), 15 (snf8 MO), and 12 (snf8 MO + SNF8WT). Two-tailed chi-squared test is used to assess statistical significance of the occurrence of the phenotype (moderate + severe) in a 2×2 contingency table: not inj. vs. snf8 MO, ∗∗∗p < 0.0001; snf8 MO vs. snf8 MO + SNF8WT, p = 0.0330.

(C and D) Quantification of the optic nerve length, measured as ON extension between two eyes and thickness, measured on both side of ON. In (C), n = 15 (not inj.), 15 (snf8 MO), and 12 (snf8 MO + SNF8WT). One-way ANOVA with Tukey’s post hoc test is used to assess statistical significance: not inj. vs. snf8 MO, ∗∗∗∗p < 0.0001; snf8 MO vs. snf8 MO + SNF8WT, ∗∗p = 0.0024. In (D), n = 15 (not inj.), 12 (snf8 MO), and 12 (snf8 MO + SNF8WT). Two-way ANOVA with Tukey’s post hoc test (not inj. vs. snf8 MO, ∗∗∗∗p < 0.0001; snf8 MO vs. snf8 MO + SNF8WT, ∗∗∗∗p < 0.0001).

(E) Quantification of the dimension of the angle formed by the optic chiasm (OC) in the midline. n = 15 (not inj.), 9 (snf8 MO), and 12 (snf8 MO + SNF8WT). One-way ANOVA with Tukey’s post hoc test is used to assess statistical significance: not inj. vs. snf8 MO, ∗∗p = 0.0039; snf8 MO vs. snf8 MO + SNF8WT, p = 0.0463. In (C)–(E) data are expressed as boxplots with mean ± SEM.

Expression Data

Expression Detail
Antibody Labeling
Phenotype Data
Fish:
Knockdown Reagents:
Observed In:
Stage: Long-pec

Phenotype Detail
Acknowledgments
This image is the copyrighted work of the attributed author or publisher, and ZFIN has permission only to display this image to its users. Additional permissions should be obtained from the applicable author or publisher of the image. Full text @ Am. J. Hum. Genet.