Analysis Tools
homeostasis/metabolism
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• mice exhibit increased total glycogen levels in the heart muscle, skeletal muscle, and brain compared with wild-type mice
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• mice exhibit increased total glycogen levels in the heart muscle
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• mice exhibit increased total glycogen levels in brain
• brain glycogen levels in the insoluble pellet is increased compared to in wild-type mice
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• mice exhibit increased total glycogen levels in skeletal muscle
(J:165994)
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muscle
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• mice exhibit increased total glycogen levels in the heart muscle
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• mice exhibit increased total glycogen levels in skeletal muscle
(J:165994)
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behavior/neurological
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• mice show spontaneous hippocampal seizures accompanied on occasion by myoclonus after a single injection of kainic acid unlike wild-type mice
• the presence of seizures reduces the amplitude and slope of fEPSPs evoked at the CA3-CA1 synapse
• train stimulation of Schaffer collaterals evokes long-lasting after-discharges in mutants but not wild-type mice
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• mice are hyperactive at 11 months of age and show an increase in exploratory behavior, indicating reduced anxiety
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• mice are hyperactive at 11 months of age and show an increase in exploratory behavior
• however, mice show normal gait and normal behavior in the rotarod or beam walking tests
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nervous system
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• mice show spontaneous hippocampal seizures accompanied on occasion by myoclonus after a single injection of kainic acid unlike wild-type mice
• the presence of seizures reduces the amplitude and slope of fEPSPs evoked at the CA3-CA1 synapse
• train stimulation of Schaffer collaterals evokes long-lasting after-discharges in mutants but not wild-type mice
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• at 16 months of age, mutant brains accumulate similar but larger and more abundant PAS- and muscle glycogen synthase (MGS)-positive polyglucosan bodies (PGBs) in the hippocampus, cerebellum, and piriform cortex than age-matched wild-type brains
(J:216806)
• age-related PGBs resemble corpora amylacea (polysaccharide-based aggregates observed in aged human brain) and are also positive for other glycogen-binding proteins, such as laforin and BGP (the glycogen-degrading enzyme), stress-response proteins (such as ubiquitin, HSP70, and advanced glycation end products), parvalbumin and alpha-synuclein
(J:216806)
• at 16 months of age, PGB distribution among astrocytes and neuronal cells is similar to than in aged wild-type brains
(J:216806)
• Laforin bodies are seen in several areas of the brain, most abundantly in the hippocampus and cerebellum, with glycogen-content increased 2-fold in whole brain of 11 month old mice
(J:218959)
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• mice exhibit increased total glycogen levels in brain
• brain glycogen levels in the insoluble pellet is increased compared to in wild-type mice
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• Laforin bodies accumulate in glial cells by 11 months of age
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• astrocytes often show Laforin bodies in their cytoplasm by 4 months of age
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• 11 month old mice show an increase in GFAP+ cells in the hippocampus, indicating gliosis
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• Laforin bodies accumulate in neurons by 11 months of age, in the neuronal somata of hippocampal PV+ interneurons and occasionally in their dendritic processes
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• degeneration of PV+ interneurons in the hippocampus, with mice showing a reduction in the number of PV+ neurons at 11 months of age
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• mice exhibit increased Lafora bodies in the heart muscle, skeletal muscle, and brain compared with wild-type mice
(J:165994)
• however, no Lafora bodies are detected in the liver
(J:165994)
• Laforin body inclusions increase in number and size with age
(J:218959)
• Laforin bodies accumulate in glial cells and neurons
(J:218959)
• Laforin bodies are also seen in some fibers of skeletal muscle and heart
(J:218959)
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• mice exhibit larger fEPSP amplitudes at higher stimulus intensities at the CA1 area, suggesting an enhanced synaptic excitability
• however, short-term plastic processes are not affected
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• mice show larger and longer-lasting LTPs
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cardiovascular system
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• mice exhibit increased total glycogen levels in the heart muscle
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Lafora disease | DOID:3534 |
OMIM:254780 |
J:165994 , J:218959 | |
