FIGURE

Fig. 5

ID

ZDB-FIG-240828-48

Publication

De Bortoli et al., 2024 - Somatic loss-of-function PIK3R1 and activating non-hotspot PIK3CA mutations associated with Capillary Malformation with Dilated Veins (CMDV)

Other Figures

All Figure Page

Back to All Figure Page

Fig. 5

Endothelial-specific overexpression of mutated PIK3R1 in Tg(fli1a:Gal4FFub53;UAS:RFP)-positive zebrafish embryos. Normal and inverted images are shown. EGFP+ cells (magenta) contain the injected plasmid. CV (red), DA (yellow), and CP (blue) are shown. (a) Embryos with normal development of trunk vasculature. (b, c) Embryos injected with pUAS-p2A-H2b-EGFP (EV) and pUAS-PIK3R1WT-p2A-H2b-EGFP: normal development of trunk vasculature. (d?f) Embryos injected with pUAS-PIK3R1-p2A-H2b-EGFP expressing mutated PIK3R1: CV enlargement and CP disruption. (g) Quantification of area between CV and DA occupied by the capillary bed: ratio between intravessel and intervessel space. (h) Quantification of CV diameter. (i) Quantification of plasmid integration rate in zebrafish endothelium: EGFP+ cells found in capillary?venous plexus. Plotted are averages normalized on the number of embryos for each condition. Each blue dot corresponds to 1 embryo. Bar = 50 ?M. Error bars are shown as measure of variability and represent the SD. Number of biological replicates: uninjected, n = 19; EV, n = 10; PIK3R1WT, n = 9; PIK3R1N564D, n = 4; PIK3R1L570P, n = 8; and PIK3R1L573P, n = 9. Embryos in which the CV was not readily distinguishable were discarded. CV, caudal vein; CP, capillary plexus; DA, dorsal aorta; EV, empty vector; ns, not significant.

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. Invest. Dermatol.