Adult engmu130 fish display cutaneous and retinal vascular malformations similar to those in patients with hereditary haemorrhagic telangiectasia and an enlarged heart. (A) Adult 5- to 6-month-old engmu130 zebrafish display cutaneous vascular malformations (black arrows). Scale bars: 1 cm. (B) Representative engmu130 and wild-type (WT) hearts (n=5/group). Scale bars: 500 μm. (C) Body weight of adult WT and engmu130 zebrafish. (D) Cardiac ventricle weight/body weight of WT and engmu130 zebrafish. (E) Fluorescent micrographs of whole-mount retinae from Tg(kdrl:Hsa.HRAS-mCherry)s916 zebrafish, showing abnormal vessel communications in engmu130 (white arrowheads). Scale bars: 500 μm. (F) Schematic diagram of a 5- to 6-month-old zebrafish retinal vasculature. Figure created with BioRender. (G) Number of retinal vascular branches in WT and engmu130 homozygous siblings. (H) Optic artery diameter in WT and engmu130 homozygous siblings. (I) Inter-capillary distance in WT and engmu130 homozygous siblings. **P<0.01, ****P<0.0001 (unpaired two-tailed Student's t-test, 8-10 animals/group).
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