GM2 Gangliosidoses Model
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GM2 gangliosidoses, a subset of lysosomal storage disorders, is caused by a deficiency of the glycohydrolase, β-N-acetylhexosaminidase, and includes the closely related Tay–Sachs and Sandhoff diseases. The enzyme deficiency prevents the normal, stepwise degradation of ganglioside, which accumulates unchecked within the cellular lysosome, particularly in neurons.
● Genetically Engineered GM2 gangliosidoses Mouse Model
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Strain No.
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Strain Name | Strain Type | Description |
|---|---|---|---|
| T017692 | Hexb-KO | Knockout | Homozygous Hexb-KO mice show tremor, muscle weakness and an ataxic gait at 15 weeks old, with GM2 ganglioside storage and positive staining of polysaccharide substrate in the brain |