All Phenotypes Ctnnd1<tm1Lfr> MGI Mouse

neonatal lethality, complete penetrance ( J:171425 )

• mutant pups are born at near Mendelian ratios but die within 24 hours of birth

abnormal renal tubule epithelial cell primary cilium morphology ( J:171425 )

• 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

• 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

increased kidney cell proliferation ( J:171425 )

• despite overall renal hypoplasia, a 2-fold increase in proliferation is observed in E17.5 proximal tubular epithelium, as revealed by Ki67 staining

kidney cortex cyst ( J:171425 )

• 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

abnormal podocyte morphology ( J:171425 )

• 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

abnormal renal glomerulus morphology ( J:171425 )

• at P0, many, but not all, glomeruli appear smaller and disorganized with loss of podocyte and endothelial patterning, unlike in controls

decreased renal glomerulus number ( J:171425 )

• at P0, mice exhibit normal glomerular density with a mild decrease in total glomerular number relative to controls

abnormal kidney development ( J:171425 )

• 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

abnormal metanephros morphology ( J:171425 )

• at E17.5, a significant number of abnormal comma-shaped and s-shaped (10%) structures are observed, unlike in controls

small kidney ( J:171425 )

• mice produce urine but exhibit significantly smaller kidneys at E17.5 and P0

renal hypoplasia ( J:171425 )

• mice exhibit hypoplastic cystic kidneys at P0

dilated distal convoluted tubule ( J:171425 )

• 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

abnormal proximal convoluted tubule morphology ( J:171425 )

• 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

dilated proximal convoluted tubule ( J:171425 )

• at E17.5, even tubules that are not overtly cystic have increased diameters

• dilated tubules are noted as early as E15.5