MOUSE MODELS FOR GENETIC DISEASES

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Gaucher disease (GD) is the most common lysosomal storage disorder. The disease is caused by an inherited functional deficiency of the lysosomal enzyme glucocerebrosidase (GC). Presently, there is no animal model for Gaucher disease; it would be advantageous to have a rodent model of Gaucher's disease to further its study and therapy. The availability of clones for the human and mouse genes for GC presents the possibility that a transgenic animal could be developed which manifests the enzyme deficiency and reproduces the pathologic complications of Gaucher disease. The long-term objective of this proposal is to develop animal models for a variety of human genetic diseases using transgenic mice produced by either homologous recombination or an antisense cDNA construct that are introduced into the mouse germline. The animal models could be used to evaluate the potential of therapeutic approaches, such as gene therapy in autologous bone marrow transplantation or allogeneic bone marrow transplantation.