homeostasis/metabolism
behavior/neurological
• head tremor presents as a results of neurodegeneration with a median time of onset on the C67BL/6J background of 3.8 months
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cellular
• cytoplasmic vacuolation is found in CNS and peripheral neurons, epithelia of the gall bladder, bile duct, denial vesicle, epididymides, renal tubes and bronchia, and in splenic phagocytes
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• neuronal cytoplasm has many lysosomes distended with inspissated material
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nervous system
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
Sandhoff disease | DOID:3323 |
OMIM:268800 |
J:301674 |