Analysis Tools
mortality/aging
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• mutant pups are born at near Mendelian ratios but die within 24 hours of birth
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renal/urinary system
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• at P0, overtly cystic proximal tubules exhibit abnormal cilium shape and length relative to controls
• however, cilia of non-cystic proximal tubules appear grossly normal in structure and number
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• at E17.5, a 2-fold increase in apoptosis is observed in derivatives of metanephric mesenchyme, i.e. condensed mesenchyme, renal vesicles and comma and s-shaped bodies relative to controls
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• despite overall renal hypoplasia, a 2-fold increase in proliferation is observed in E17.5 proximal tubular epithelium, as revealed by Ki67 staining
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• at P0, all mice exhibit cystic structures of proximal tubule origin, with nuclear crowding and areas of multi-layered epithelium
• no cysts are observed in the ureteric bud and collecting ducts
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• at the capillary loop stage, podocytes often fail to completely surround the developing vasculature
• in some cases, podocytes form multiple rosettes rather than a single oval sphere
• however, slit-diaphragms are formed despite reduced R-cadherin levels
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• at P0, many, but not all, glomeruli appear smaller and disorganized with loss of podocyte and endothelial patterning, unlike in controls
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• at P0, mice exhibit normal glomerular density with a mild decrease in total glomerular number relative to controls
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• at E17.5, mice exhibit cyst formation within proximal tubules, decreased cadherin levels, and abnormal morphologies of early tubule structures and developing glomeruli
• however, no differences in the % of fusions of the ureteric bud to mesenchymally derived epithelia are observed
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• at E17.5, a significant number of abnormal comma-shaped and s-shaped (10%) structures are observed, unlike in controls
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small kidney
(
J:171425
)
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• mice produce urine but exhibit significantly smaller kidneys at E17.5 and P0
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• mice exhibit hypoplastic cystic kidneys at P0
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• at E17.5, mice exhibit mild luminal widening in distal tubules
• in contrast, thick ascending limb tubules, ureteric bud epithelia, and collecting ducts are not dilated
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• at E17.5, proximal tubules display cysts, an increased diameter, and decreased total length
• at E17.5, proximal tubules exhibit impaired cytoskeletal organization, with increased apical actin filaments in non-cystic epithelia and abundant actin bundles in cystic epithelia, unlike in control tubules
• a 2-fold increase in proliferation is observed in E17.5 proximal tubular epithelium, as revealed by Ki67 staining
• however, gross apical-basolateral polarity is intact despite low cadherin levels
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• at E17.5, even tubules that are not overtly cystic have increased diameters
• dilated tubules are noted as early as E15.5
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cellular
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• at P0, overtly cystic proximal tubules exhibit abnormal cilium shape and length relative to controls
• however, cilia of non-cystic proximal tubules appear grossly normal in structure and number
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• at P0, luminal cells are frequently observed within proximal tubule cysts, suggesting a cell adhesion defect
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• at E17.5, a 2-fold increase in apoptosis is observed in derivatives of metanephric mesenchyme, i.e. condensed mesenchyme, renal vesicles and comma and s-shaped bodies relative to controls
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• despite overall renal hypoplasia, a 2-fold increase in proliferation is observed in E17.5 proximal tubular epithelium, as revealed by Ki67 staining
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growth/size/body
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• at P0, all mice exhibit cystic structures of proximal tubule origin, with nuclear crowding and areas of multi-layered epithelium
• no cysts are observed in the ureteric bud and collecting ducts
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