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| a natural canine model of Gaucher disease  mice homozygous for the RecNciI mutation had little GC enzyme activity and accumulated glucosylceramide in brain and liver, mice homozygous for the L444P mutation had higher levels of GC activity and no detectable accumulation of glucosylceramide in brain and liver, both point mutation mice died within 48 hr of birth | |
mouse with strong reduction in GCase activity in all tissues except the skin exhibit rapid motor dysfunction associated with severe neurodegeneration and apoptotic cell death within the brain |