FIGURE

Fig. 5

ID
ZDB-FIG-251117-15
Publication
Erkut et al., 2025 - A cardiovascular, craniofacial, and neurodevelopmental disorder caused by loss-of-function variants in the eIF3 complex component genes EIF3A and EIF3B
Other Figures
All Figure Page
Back to All Figure Page
Fig. 5

eif3s10 and eif3ba loss-of-function mutants exhibit extracardiac abnormalities including reduced brain size, coloboma, reduced eye size, and craniofacial cartilage defects (A) Immunofluorescent staining for a pan-neuronal marker (HuC/HuD) reveals reduced brain size in mutants compared to WT siblings at 3 dpf. Quantification revealed a significant decrease in brain area for both eif3s10 and eif3ba mutants. Significance was determined by one-way ANOVA with Tukey multiple comparisons test; ∗p ≤ 0.05, ∗∗p ≤ 0.01, ∗∗∗p ≤ 0.001, and ∗∗∗∗p ≤ 0.0001. Each data point is one embryo, and n = 5–8 embryos. All scale bars: 100 μm. (B) Dorsal view of Alcian blue-stained embryos reveals a lack of facial cartilage (including jaw and pharyngeal arches) in mutant embryos compared to WT at 5 dpf. White arrowheads indicate otic vesicles, and white arrows indicate pharyngeal arches. All scale bars: 100 μm. (C) Mutant embryos have small eyes and coloboma at 3 dpf, with white arrowheads marking incomplete closure of the optic fissure. Quantification revealed a significant decrease in eye area and minimum Feret's diameter. All scale bars: 100 μm. Significance was determined by one-way ANOVA with Tukey multiple comparisons test; ∗p ≤ 0.05, ∗∗p ≤ 0.01, ∗∗∗p ≤ 0.001, and ∗∗∗∗p ≤ 0.0001. Each data point is one embryo (right eye measured only), and n = 3–7 embryos.

Expression Data

Expression Detail
Antibody Labeling
Phenotype Data

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.