The glycogen storage disease type II (GSD II) is a rare, multisystemic disease with variable rates of disease progression that is also called Pompe disease. It is caused by alterations in the acid α-glucosidase (GAA) gene, resulting in reduced levels of this enzyme that in turn leads to a reduced degradation and thus accumulation of glycogen mostly in different muscle tissues. Most common symptoms include cardiac dysfunction, muscle weakness, hypotonia, respiratory problems and a strongly reduced life expectancy.
The 6neo mouse model has a Gaa knockout resulting in reduced GAA enzyme levels and thus a progressive accumulation of glycogen in different muscle tissues.
Starting at 3 weeks:
- Reduced GAA activity in brain, spinal cord, liver, and muscle
- Glycogen accumulations in brain, spinal cord, heart, skeletal muscle, and diaphragm (PAS reaction)
- Reduced number of myofibrils
- Damaged muscle structure
- Reduced mobility
- Progressive muscle weakness
- Reduced body weight
- Reduced motor coordination
- Reduced muscle strength
QPS Neuropharmacology offers a custom-tailored study design for this model and we are flexible to accommodate to your special interest. 6neo mice show relevant features of Pompe disease already at young age. This allows for extraordinarily fast turn-around times.
We would be happy to test your compounds in the 6neo mouse model! The most common readouts are:
- Enzyme levels in neuronal and visceral tissues
- Substrate levels in neuronal and visceral tissues
- Muscle weakness
You might be also interested in these related topics:
- 4L/PS-NA Gaucher disease mouse model
- CBE-induced Gaucher disease mouse model
- GBA D409V KI mouse model