FIGURE

Fig. 5

ID

ZDB-FIG-220706-101

Publication

Yang et al., 2022 - A novel de novo missense mutation in EFTUD2 identified by whole-exome sequencing in mandibulofacial dysostosis with microcephaly

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Fig. 5

p.Gly224Val mutation leads to loss of function of EFTUD2 in the zebrafish model. p.Gly224Val mutation caused a loss of gene function of EFTUD2 during zebrafish embryogenesis. The EFTUD2 p.Gly224Val mutant mRNA decreased percentage of abnormality of embryonic neurodevelopment and cardiac development compared to EFTUD2 WT mRNA. Expression of pax2a and sox3 at 24 hpf, myl7 at 48 hpf, embryos at 24 hpf shown are lateral views with anterior to the left, embryos at 48 hpf shown are ventral view with the anterior at the top. Arrows point to the signal generated by detected marker genes. The percentage and numbers indicated in each image are the ratio for the number of affected embryos with phenotype similar to what is shown in the picture

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 @ J Clin Lab Anal