FIGURE

Fig. 5

ID

ZDB-FIG-250116-12

Publication

Li et al., 2024 - Homozygous variant in translocase of outer mitochondrial membrane 7 leads to metabolic reprogramming and microcephalic osteodysplastic dwarfism with moyamoya disease

Other Figures

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Fig. 5

Deletion of tomm7 caused developmental defects and cerebral vessel dysmorphism in zebrafish. (a) Immunoblotting with anti-tom7 antibody in brain lysate from adult zebrafish. (b) Representative pictures of zebrafish embryos at 96 hpf after PTU treatment. The black triangle indicates a recessed chin, and the white triangle indicates cardiac edema in knockout zebrafish. (c) Quantification of the size of the brain (indicated by dash lines) at 96 hpf. +/+, N = 19; +/Δ, N = 34; Δ/Δ, N = 13. Statistical analysis was performed using Kruskal–Wallis test with Dunn's multiple comparisons test. (d) Representative pictures of craniofacial cartilage elements at 96 hpf with Alcian blue staining. (e) Illustration of cartilages and measurements of length and angle of ceratohyal cartilages in zebrafish at 96 hpf. For the angle of ceratohyal cartilages: +/+, N = 6; +/Δ, N = 7; Δ/Δ, N = 4. For the length of ceratohyal cartilages: WT, N = 4; +/Δ, N = 19; Δ/Δ, N = 8. Statistical analysis was performed using the Kruskal–Wallis test followed by Dunn's multiple comparisons test. (f) Maximum projections of head vasculature in Tg (fli1a:EGFP); tomm7+/+, Tg (fli1a:EGFP); tomm7+/Δ and Tg (fli1a:EGFP); tomm7Δ/Δ zebrafish embryo at 96 hpf. Arrows indicate missing central arteries. Scale bars, 100 μm. (g) Oxygen consumption rate (OCR) measured by the Seahorse Mito Stress Test with Tg (fli1a:EGFP); tomm7+/+, Tg (fli1a:EGFP); tomm7+/Δ and Tg (fli1a:EGFP); tomm7Δ/Δ zebrafish embryo at 48 hpf. +/+, N = 13; +/Δ, N = 24; Δ/Δ, N = 13. Oligo., oligomycin; FCCP, carbonyl cyanide-p-trifluoromethoxyphenylhydrazone; Rot, rotenone; AA, antimycin A. (h) Basal respiration and ATP-coupled respiration were calculated from (g) and analyzed using the Kruskal–Wallis test followed by Dunn's multiple comparisons test. (i) Dotplot showing the ratio of enriched genes in representing 20 significantly activated and suppressed GO biological process terms in tomm7Δ/Δ adult zebrafish brain when compared with WT zebrafish brain. +/+, wild type, tomm7+/+; +/Δ, tomm7+/Δ; Δ/Δ, tomm7Δ/Δ. ∗P < 0.05.

Expression Data

Expression Detail

Antibody Labeling

Phenotype Data

Fish:	tomm7^zf4229/+; tomm7^zf4230/+ (AB) tomm7^zf4229/+; tomm7^zf4230/+; zf544Tg
Observed In:	brain ceratohyal cartilage dentary heart hindbrain central artery trunk whole organism mitochondrion
Stage Range:	Long-pec to Day 4

Phenotype Detail

Acknowledgments

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