Supplementary Materials

Supplementary Material for:

Somatic activating mutations in Pik3ca cause sporadic venous malformations in mice and humans

Sandra D. Castillo,* Elena Tzouanacou, May Zaw-Thin, Inma M. Berenjeno, Victoria E.R. Parker, Iñigo Chivite, Maria Milà-Guasch, Wayne Pearce, Isabelle Solomon, Ana Angulo-Urarte, Ana M. Figueiredo, Robert E. Dewhurst, Rachel G. Knox, Graeme R. Clark, Cheryl L. Scudamore, Adam Badar, Tammy L. Kalber, Julie Foster, Daniel J. Stuckey, Anna L. David, Wayne A. Phillips, Mark F. Lythgoe, Valerie Wilson, Robert K. Semple, Neil J. Sebire, Veronica A. Kinsler, Mariona Graupera, Bart Vanhaesebroeck*

*Corresponding author. E-mail: sandra.castillo{at}ucl.ac.uk (S.D.C.); bart.vanh{at}ucl.ac.uk (B.V.)

Published 30 March 2016, Sci. Transl. Med. 8, 332ra43 (2016)
DOI: 10.1126/scitranslmed.aad9982

This PDF file includes:

  • Fig. S1. Cre-mediated mosaic recombination in the T-CreERT2 mouse line.
  • Fig. S2. Body weight and organ size of WT and MosMes-Pik3caH1047R mice.
  • Fig. S3. Whole-mount endomucin staining of E9.5 embryos dosed with 170 μg of 4-OHT at E7.5.
  • Fig. S4. MosMes-Pik3caH1047R mouse with a subcutaneous vascular malformation and dilated vein.
  • Fig. S5. Immunostaining for lymphatic markers in VMs of MosMes-Pik3caH1047R mice.
  • Fig. S6. Genetic strategy for activating Pik3caH1047R in ECs.
  • Fig. S7. Expression of VE-Cadherin in P6 EC-Pik3caH1047R retinas.
  • Fig. S8. Apoptosis in P9 EC-Pik3caH1047R retinas.
  • Fig. S9. Expression of Pdgfb and arteriovenous markers in EC-Pik3caH1047R lungs.
  • Fig. S10. Treatment of MosMes-Pik3caH1047R mice with rapamycin.
  • Table S1. List of organs and tissues subjected to histological examination.
  • Table S2. Percentage of MosMes-Pik3caH1047R mice with VMs after dosing with different doses of 4-OHT.
  • Table S3. Percentage of live WT and MosMes-Pik3caH1047R offspring after different doses of 4-OHT.

[Download PDF]