Analysis Tools
mortality/aging
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• homozygotes are born at the expected ratios but all die within 24 hours of birth
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homeostasis/metabolism
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• homozygous neonates show significantly higher serum creatinine concentrations (0.567 mg/dl) than heterozygous littermates (0.400 mg/dl)
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renal/urinary system
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• neonatal kidneys display punctate surface hemorrhages
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• significantly higher numbers of apoptotic nuclei are observed in homozygous kidneys vs heterozygous kidneys; increased numbers are predominantly found in the renal epithelium rather than in the glomerular region
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• kidneys have a dystrophic appearance
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• neonatal kidneys display cyst formation, primarily in the area of proximal tubuli
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• mutant kidneys have reduced number of normal foot processes
• podocyte foot processes are fused and do not interdigitate whereas kidneys from wild-type and heterozygous mice show discrete foot processes
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• mutant kidneys have fewer mature glomeruli
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• kidneys display both proximal and distal tubular dysgenesis
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cardiovascular system
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• neonatal kidneys display punctate surface hemorrhages
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hearing/vestibular/ear
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• homozygous neonates display cystic malformation of the inner ear; heterozygotes do not
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immune system
| N |
• macrophage phagocytic activity is normal in mutants
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cellular
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• significantly higher numbers of apoptotic nuclei are observed in homozygous kidneys vs heterozygous kidneys; increased numbers are predominantly found in the renal epithelium rather than in the glomerular region
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growth/size/body
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• homozygous neonates display cystic malformation of the inner ear; heterozygotes do not
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• neonatal kidneys display cyst formation, primarily in the area of proximal tubuli
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