Analysis Tools
mortality/aging
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• 41% die perinatally
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• 58% die before 21 days of age
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growth/size/body
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• the heart-to-body weight ratio exceeds controls by 105%
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kidney cyst
(
J:67735
)
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• mutants that survive to adulthood display kidneys that often contain 1-5 simple renal cysts
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• mutants that die before 21 days of age are typically half the size of control littermates
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cardiovascular system
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• mutants crossed to a beta-galactosidase transgene in pericytes show that retinas contain highly disorganized vasculature, prominent areas of hemorrhaging and a paucity of pericytes both at the center and out toward the periphery of the tissue
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• 9 of 11 exhibit kidney microaneurysms
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• exhibit loss of pericytes at the retinal microvasculature
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• myofibers are highly disorganized
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• the heart-to-body weight ratio exceeds controls by 105%
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• show thickening of the left ventricle
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• show distension of the right ventricle
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hemorrhage
(
J:67735
)
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• most likely die due to hemorrhaging as autopsy often shows clots of blood surrounding the heart
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• retinas contain prominent areas of hemorrhaging
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renal/urinary system
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• 9 of 11 exhibit kidney microaneurysms
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kidney cyst
(
J:67735
)
|
• mutants that survive to adulthood display kidneys that often contain 1-5 simple renal cysts
|
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• 9 of 11 exhibit many abnormal glomeruli (60-80%) that lack the formation of a capillary tuft at E18.5
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• mesangial cell development is inhibited
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• 30-60% of glomeruli are damaged by glomerulosclerosis; observe as early as 28 days after birth and fully penetrant by 3 months of age
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vision/eye
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• as early as 27 days following birth, observe a cotton-like opacity in the center of the eye and develop a proliferative retinopathy
|
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• mutants crossed to a beta-galactosidase transgene in pericytes show that retinas contain highly disorganized vasculature, prominent areas of hemorrhaging and a paucity of pericytes both at the center and out toward the periphery of the tissue
|
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• retinas contain prominent areas of hemorrhaging
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• retina is detached from the posterior of the eye, migrates into the vitreous body, and loses its normal layered appearance, a phenotype that resembles diabetic retinopathy
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muscle
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• myofibers are highly disorganized
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cellular
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• mesangial cell development is inhibited
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