Analysis Tools
mortality/aging
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• increase in adult mortality within 1 year of age
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behavior/neurological
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• 8 month old mice perform less well on the accelerating rotarod than controls
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• mice exhibit everted paws during walking resulting in a gait defect at 3 months of age
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• mice exhibit significant performance variability on a treadmill with belt speed of 30 cm/s at 4 months of age and dramatic decrease in performance at 3 months of age and an inability to remain on the belt at 9 months of age
• mice however are able to execute the test with mild exercise for long distances at a belt speed of 15 cm/s for 350 m, although performance is worse than in controls
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homeostasis/metabolism
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• mice exhibit significant performance variability on a treadmill with belt speed of 30 cm/s at 4 months of age and dramatic decrease in performance at 3 months of age and an inability to remain on the belt at 9 months of age
• mice however are able to execute the test with mild exercise for long distances at a belt speed of 15 cm/s for 350 m, although performance is worse than in controls
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• adult fed mice exhibit lower basal blood glucose levels
• however, serum triglycerides and total cholesterol levels are normal
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• after 16 hours of fasting, glycemia is reduced in mutants compared to wild-type mice
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• high levels in 3 and 12 month old fed mice; levels increase with age
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• high levels in 3 and 12 month old fed mice; levels remain steadily higher
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• high levels in 3 and 12 month old fed mice; levels increase with age
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• serum CK is higher at 3 and 12 months of age
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• increase in glycogen content in skeletal muscle including the diaphragm, liver, heart, and brain tissue of adults
• glycogen accumulation is seen in tongue tissue of 4 and 18 month old mice
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• slight increase of glycogen content in brain frontal cortex, in the granular layer of the cerebellum adjacent to the Purkinje cell layer
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• glycogen accumulation is seen in hepatocytes at 4, 8, 12, and 18 months of age
• glycogen in the liver has an abnormal structure
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• glycogen granules are dispersed among the myofibrils in 4 month old muscles
• 12 month old muscle fibers contain large glycogen collections that are localized at the subsarcolemmal level and at intracytoplasmic sites and disrupt contractile units
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liver/biliary system
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• livers are dark red in color compared to lighter coloring in wild-type
• however, cirrhosis or adenomas are not seen and liver does not exhibit fibrosis, even in older mice
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• 3 month old livers are increased to over 9% of total body weight and to 11% at 12 months of age, compared to 5 and 6% of total body weight in wild-type mice at these ages, respectively
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• glycogen accumulation is seen in hepatocytes at 4, 8, 12, and 18 months of age
• glycogen in the liver has an abnormal structure
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• hepatocytes appear enlarged due to glycogen deposition
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muscle
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• glycogen granules are dispersed among the myofibrils in 4 month old muscles
• 12 month old muscle fibers contain large glycogen collections that are localized at the subsarcolemmal level and at intracytoplasmic sites and disrupt contractile units
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respiratory system
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• older mice show an accelerated respiratory rate at basal conditions
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skeleton
nervous system
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• slight increase of glycogen content in brain frontal cortex, in the granular layer of the cerebellum adjacent to the Purkinje cell layer
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cardiovascular system
growth/size/body
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• 3 month old livers are increased to over 9% of total body weight and to 11% at 12 months of age, compared to 5 and 6% of total body weight in wild-type mice at these ages, respectively
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| glycogen storage disease III | DOID:2748 |
OMIM:232400 |
J:218471 | |
