Mouse Models for the Study of Gaucher Disease and Therapeutic Development
This technology includes mouse models for both mild and severe Gaucher disease. Gba-L444P and Gba-L444P A456P mice, respectively, carry common gene mutations for milder or severe Gaucher disease, a lysosomal storage disease. Gaucher Disease is caused by mutations in the lysosomal enzyme, glucocerebrosidase. Deficiency of enzyme activity leads to the accumulation of glucosylceramide in liver, spleen, bone, and in the most severe cases, the central nervous system.