Analysis Tools
mortality/aging
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• if glucose therapy is started within 24 hours of birth, 77% of mice survive weaning
|
behavior/neurological
growth/size/body
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• largest disparity of weight between homozygotes and contols was observed around weaning (22 to 24 days of age)
• mice were 60% the weight of wild-type at 60 days of age
|
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• glycogen accumulation in the kidney resulted in enlargement and compression of the glomeruli
|
|
• glycogen accumulation in hepatocytes
• the liver had uniform mosaic architecture with compression of the sinusoids, similar to that seen in patients with glycogen storage disease Ib
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hematopoietic system
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• increased number of myeloid colony forming progenitor cells
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• during the first 3 postnatal weeks
• by 6 weeks of age, the average number of neutrophils reached 95% that observed in wild-type, though 2 of 11 mice still exhibited neutropenia
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• delayed increase in peripheral blood lymphocyte counts during postnatal development
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small spleen
(
J:86005
)
|
• white pulp is not evident at all until 2 weeks of age and still not well formed at 6 weeks of age
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• impaired respiratory burst activity
• impaired calcium flux response
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• impaired chemotaxis
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homeostasis/metabolism
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• elevated circulating levels of uric acid and lactic acid relative to those of wild-type
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hypoglycemia
(
J:86005
)
|
• fasting hypoglycemia
• mice undergo hypoglycemic seizures unless treated with glucose
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• progressive glycogen accumulation in the kidney, first evident at 2 days of age
|
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• progressive glycogen accumulation in the liver, first evident at 2 days of age
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• 5.4-fold higher than that of wild-type at 2 to 3 weeks of age
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• 22-fold higher than that of wild-type at 2 to 3 weeks of age
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immune system
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• increased number of myeloid colony forming progenitor cells
|
|
• during the first 3 postnatal weeks
• by 6 weeks of age, the average number of neutrophils reached 95% that observed in wild-type, though 2 of 11 mice still exhibited neutropenia
|
|
• delayed increase in peripheral blood lymphocyte counts during postnatal development
|
small spleen
(
J:86005
)
|
• white pulp is not evident at all until 2 weeks of age and still not well formed at 6 weeks of age
|
|
• impaired respiratory burst activity
• impaired calcium flux response
|
|
• impaired chemotaxis
|
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• depressed local production of chemokines and neutrophil trafficking
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liver/biliary system
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• glycogen accumulation in hepatocytes
• the liver had uniform mosaic architecture with compression of the sinusoids, similar to that seen in patients with glycogen storage disease Ib
|
|
• progressive glycogen accumulation in the liver, first evident at 2 days of age
|
renal/urinary system
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• glycogen accumulation in the kidney resulted in enlargement and compression of the glomeruli
|
|
• progressive glycogen accumulation in the kidney, first evident at 2 days of age
|
skeleton
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• reduced in size relative to that of wild-type
|
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• reduced in size relative to that of wild-type
|
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• reduced in size relative to that of wild-type
|
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• narrowed medullary cavities of the femoral and tibia bones evident during the first 3 weeks of life
• the medullary cavities were similar to those of wild-type by 6 weeks of age when the blood leukocyte counts were closer to normal
|
nervous system
cellular
|
• impaired chemotaxis
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| glycogen storage disease Ia | DOID:2749 |
OMIM:232200 |
J:86005 | |
