Licensing status

Publication and contact information

Disease models

Transgenic mouse models of Netherton syndrome expressing human kallikrein-related peptidase 5 (KLK5)

Transgenic mice expressing human KLK5 in the epidermis could be used to study the biology of Netherton syndrome and screen for drugs to treat the indication. Netherton syndrome is a severe form of ichthyosis caused by mutations in serine peptidase inhibitor Kazal type 5 (SPINK5; LEKT1), an inhibitor of KLK5. The transgenic mice survived longer than Spink5-deficient mice and recapitulated symptoms of Netherton syndrome including reddened, scaling skin; hyperkeratosis; detachment of the skin's outer epidermal layer from the underlying granular layer; and skin barrier and hair defects. The transgenic mice also had enlarged lymph nodes and increased levels of allergy-associated cells and T helper type 2 (Th2) proinflammatory molecules in the skin and increased serum levels of IgE compared with wild-type controls. Future studies could include evaluating potential Netherton syndrome therapies in the model.

SciBX 7(10); doi:10.1038/scibx.2014.297
Published online March 13, 2014

Patent and licensing status unavailable

Furio, L. et al. J. Exp. Med.; published online Feb. 17, 2014;
Contact: Alain Hovnanian, University Paris Descartes-Sorbonne, Paris, France