Analysis Tools
homeostasis/metabolism
|
• the serum/plasma concentrations of calcium and phosphate are normal, but the inorganic pyrophosphate is approximately 80% lower than normal resulting in a reduction of the PPi/Pi ratio from 4.2 to 0.88
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calcinosis
(
J:215824
)
|
• extensive arterial mineralization is found by 3 months of age in the descending thoracic aorta, carotid artery, eyes, and a number of internal organs including the heart, spleen, lung, and kidney
• feeding a high phosphorous/low magnesium diet from 4 weeks of age until assessment at 12 weeks of age increases the calcium deposits throughout all of the affected tissues and additionally in the liver and this is more severe than the response to the same treatment in mice homozygous for the ages with stiffened joints allele, which was assessed on the C57BL/6J backgroud
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skeleton
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• progressive mineralization of the joints, especially in the front feet
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• stiffened joints due to increased minerization of the joints, most pronounced in the front feet
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integument
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• the dermal sheath of vibrissae are mineralized
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• the muzzle skin,as well as the juxta-articular connective tissues, spinal and intercostal tissues, and various arteries, has extensive mineralization
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cardiovascular system
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• extensive arterial mineralization is found by 3 months of age in the descending thoracic aorta, carotid artery, and a number of internal organs including the heart, spleen, lung, and kidney
|
renal/urinary system
behavior/neurological
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• the whole body appears stiffened by approximately 12 weeks of age, with stiffening of the front paws being the most pronounced
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• by 8 weeks of age
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• slow, hobbling gait due to stiffened joints worsens with age
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| arterial calcification of infancy | DOID:0050644 |
OMIM:208000 OMIM:614473 |
J:215824 | |
