Analysis Tools
mortality/aging
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• shortened lifespan of 10-12 months compared to herterozygotes and wild-type mice
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• 35-50% of homozygous nulls die by the age of weaning of unknown cause
• however, the rest reached adulthood
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renal/urinary system
kidney cyst
(
J:119488
)
|
• at 8 weeks of age multiple cysts are observed at, predominantly at the cortico-medullary boundary
• most cysts arise from glomerular tissue (66%) with smaller fractions originating from collecting ducts (11%) and proximal (3%) and distal (4%) tubules, and the rest (16%) being of unknown origin
• severity and progression of cysts are variable but cysts increase in number and size with age
• largest cysts are found in the juxtamedullary region
• fewer cells lining cysts have cilia and the remaining cilia are shorter with structural defects
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• at 8 weeks of age multiple cysts are observed at, predominantly at the cortico-medullary boundary
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• around E15.5 dilation of Bowman's space between visceral podocytes and the parietal cell layer of Bowman's capsule occurs
• by E16.5, dilation results in degeneration of glomerular morphology, atrophy of tufts, and cyst formation
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• by E16.5, dilation results in atrophy of capillary tufts
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• parietal and tubular basement membrane thickening, thinning and folding
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• significantly fewer cells lining dilated or cystic ducts are ciliated
• cilia facing dilated tubules or cysts are often short with apparent structural defects
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• dilation observed by E16.5
• by P9, both proximal and distal tubules are affected
• fewer cells lining dilated tubules have cilia and the remaining cilia are shorter with structural defects
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• by P9, both proximal and distal tubules are affected
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• by P9, both proximal and distal tubules are affected
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pale kidney
(
J:119488
)
|
• anemic kidney
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• progressive deterioration of renal function
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homeostasis/metabolism
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• 2-fold higher blood nitrogen urea in 4- to 6- month old nulls compared to heterozygous and wild-type
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growth/size/body
kidney cyst
(
J:119488
)
|
• at 8 weeks of age multiple cysts are observed at, predominantly at the cortico-medullary boundary
• most cysts arise from glomerular tissue (66%) with smaller fractions originating from collecting ducts (11%) and proximal (3%) and distal (4%) tubules, and the rest (16%) being of unknown origin
• severity and progression of cysts are variable but cysts increase in number and size with age
• largest cysts are found in the juxtamedullary region
• fewer cells lining cysts have cilia and the remaining cilia are shorter with structural defects
|
|
• at 8 weeks of age multiple cysts are observed at, predominantly at the cortico-medullary boundary
|
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• slightly smaller stature
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reproductive system
skeleton
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• minor skeletal anomalies
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• minor anomalies in ossification
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immune system
cellular
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• significantly fewer cells lining dilated or cystic ducts are ciliated
• cilia facing dilated tubules or cysts are often short with apparent structural defects
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| nephronophthisis | DOID:12712 |
OMIM:PS256100 |
J:119488 | |
