6. Cell lines and model organisms for studying BHD syndrome

Model systems are crucial for fundamental studies, providing insight into the mechanisms of pathogenesis underlying BHD syndrome in vivo and can provide an excellent base for drug development.

Contact information regarding these model organisms can be found in Lab Essentials: BHD Animal Models

The following sections outline the published cell lines and model organisms currently used in BHD syndrome research.


Cell lines

Yeast models

C. elegans model

Drosophila model

Mouse models

  • FLCN mouse models
  • FNIP1 mouse models

Rat model

Dog models

  • FLCN dog model
  • FNIP2 dog models