ABSTRACT OF RESEARCH BEING UNDERTAKEN

A spontaneous mutation arose in the mouse colony at the laboratory, that resulted in a blistering skin disease. A colony of mice carrying this mutation, referred to a jeb, was established. These mice are essentially normal and live well into adulthood. However, their skin develops blisters that never fully heal.

Analysis of biopsies confirmed that this mouse disease is very similar to one form of the human condition, epidermolysis bullosa. The location of the mutant gene was mapped to the part of the genome that contains the mouse equivalent of the human LAMC2 gene. Mutations in this human gene are associated with junctional EB (JEB) and there is a high probability that this mouse jeb mutation mimics the form of JEB in which affected people survive beyond infancy.

The project intends to further characterise this mouse to determine the specific subtype of JEB that these mice develop, define the specific mutation in the DNA that causes JEB in mice, and search for other genes that change the clinical features, and especially severity, in patients.

An important use of these jeb mice that survive into adulthood is that they provide an ideal model to test new therapeutic approaches for JEB. Since the Jackson Laboratory is not only a basic science research institution but a repository and distribution centre for mutant mice (and has a programme to develop interactions with pharmaceutical companies to use this and other mouse models for specific human disease to screen new drugs), the laboratory is in an ideal position to make these mice available to the biomedical research community, once they are characterised, to encourage progress on understanding and better treating this condition.