Targeted disruption of the acid alpha-glucosidase gene in mice causes an illness with critical features of both infantile and adult human glycogen storage disease type II.

Abstract excerpt

We have used gene targeting to create a mouse model of glycogen storage disease type II, a disease in which distinct clinical phenotypes present at different ages. As in the severe human infantile disease (Pompe Syndrome), mice homozygous for disruption of the acid alpha-glucosidase gene (6(neo)/...

Topics

• Alleles
• Animals
• Disease Models, Animal
• Exons
• Female
• Gene Targeting
• Glycogen Storage Disease Type II
• Humans
• Locomotion
• Mice
• Mice, Inbred C57BL
• Mice, Knockout