mortality/aging
behavior/neurological
• paresis progresses to paralysis typically by 9 months of age
• paralysis is spastic in nature
|
• develop rear limb paresis by 8 months of age
• paresis is spastic in nature
|
nervous system
astrocytosis
(
J:47292
)
• by 6 months of age increasing numbers of hypertrophic astrocytes are seen in the cerebral cortex, thalamus and brain stem indicative of reactive gliosis
|
• many profiles of degenerating myelin sheaths and axons are seen in the white matter of the spinal cord
• lesions in the spinal cord are consistent with Wallerian degeneration
• however, no necrotic or apoptotic nuclei are detected in the central nervous system
|
• many profiles of degenerating myelin sheaths and axons are seen in the white matter of the spinal cord
• lesions in the spinal cord are consistent with Wallerian degeneration
|
• at 11 days of age, accumulation of luxol fast blue staining material is seen in inclusions in neurons in all parts of the brain and spinal cord
• amount of inclusion material increases with age
|
vision/eye
• begins around 4 months of age
• by 5 - 6 months of age, the outer nuclear layer is reduced to 5-6 cell layers compared to 11 in controls
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
neuronal ceroid lipofuscinosis 6A | DOID:0110729 |
OMIM:601780 |
J:73923 |