FIGURE

FIGURE 4

ID

ZDB-FIG-230319-38

Publication

Sheppard et al., 2023 - Novel SMAD3 variant identified in a patient with familial aortopathy modeled using a zebrafish embryo assay

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FIGURE 4

Assessment of SMAD3 VUS pathogenicity using a zebrafish embryonic assay. (A) Diagram of the spatial distribution of specific VUS mutations examined. (B) Confocal images of the tail aorta/vein labeled in Tg[kdrl:mCherry] in 48hpf embryos. White dashed boxes indicate the enlargement regions used to highlight differences in diameter (white dashed lines). Embryos imaged were either control, injected with smad3a^WT mRNA or smad3a^P124T, smad3a^R287W, smad3a^L296P or smad3a^A349P. (C) Quantification of diameter counts. Each point represents an individual embryo measured. Standard deviation is depicted in red. Variants were compared to WT: *p < 0.05, **p < 0.01. (D) Summary of VUS classification changes based on the zebrafish embryonic assay results. P, pathogenic, LP, likely pathogenic.

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 @ Front Cardiovasc Med