Analysis Tools
mortality/aging
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• die by 36 weeks of age, with males surviving a median of 27.6 weeks
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growth/size/body
weight loss
(
J:206001
)
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• body weight decreases gradually after 15 weeks of age
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• kidney weight is about 1.2-fold higher than in controls
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behavior/neurological
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• daily water intake of male is greater in 15 week old mice
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• mice tuck their hindlimbs to their bodies when lifted by the tail
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• mice begin to develop a rounded back at 20 weeks of age
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• mice begin to show slow movements at 20 weeks of age
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• mice begin to show gait disturbances at 20 weeks of age
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homeostasis/metabolism
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• BUN levels are normal in 5 week old males, but rise progressively from 15 weeks of age onwards
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• lower urine osmolality from 5 weeks of age onward
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albuminuria
(
J:206001
)
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• albuminuria is already seen in 3 week old mice and urinary albumin concentration increases until 9 weeks of age and decreases slightly thereafter
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• beta2-microglobulin is seen in the urine indicating proximal tubule impairment
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nervous system
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• lipid inclusions are seen in neurons and cells around blood vessels in the brain
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renal/urinary system
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• kidney weight is about 1.2-fold higher than in controls
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• lower urine osmolality from 5 weeks of age onward
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albuminuria
(
J:206001
)
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• albuminuria is already seen in 3 week old mice and urinary albumin concentration increases until 9 weeks of age and decreases slightly thereafter
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• beta2-microglobulin is seen in the urine indicating proximal tubule impairment
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• a small number of lipid inclusions are seen in podocytes
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• enlarged kidney tubular cells, however Bowman's capsule is normal
• large lipid inclusions with electron-dense concentric lamellar structures in the proximal and distal convoluted tubules and collecting ducts in 25 week old mice
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• urine volume is higher in at 10 and 20 weeks of age; highest urine volume is seen at 15 weeks of age
• males injected with enzyme replacement therapy of recombinant human GLA show reductions in urine volume and albumin concentration, however urine osmolality increases
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vision/eye
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• moderate whitish granular deposits and diffuse posterior capsular cataract are seen in 7 week old mice
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Fabry disease | DOID:14499 |
OMIM:301500 |
J:206001 | |
