Mouse Genome Informatics
hm
    Upk3atm1Tsun/Upk3atm1Tsun
either: (involves: 129S/SvEv) or (involves: 129S/SvEv * Swiss Webster)
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       

Urothelium lacks the umbrella cells and is leaky in Upk3atm1Tsun/Upk3atm1Tsun mice

renal/urinary system
• urine pH of about 15% of mutants is greater than or equal to 8 compared to 5-7 in wild-type
• renal pelvis of many mutants is enlarged with dilated collecting ducts and distal tubules, but minimally perturbed renal cortex
• enlarged ureteral orifices, allowing backflow of urine
• urothelium is almost twice as thick as wild-type due to an increase in nuclear tiers four to five and does not posses a typical umbrella cell layer, showing a change of the superficial squamous cells to cuboidal or even columnar cells
• the apical cells of the urothelium are only 15-25 um in diameter compared to 150 um in wild-type, they frequently contract and detach, their cytoplasm lacks mature fusiform vesicles, and their apical surface is relatively smooth with abnormally small crystalline plaques interspersed by wide, particle-free hinge areas
• decrease in the surface area covered by urothelial plaques
• vesicoureteral reflux pressure occurs at about 15 cm-H2O, which is significantly lower than in controls
• bladder is leaky to methylene blue
• mutants urinate almost twice as frequently as controls

homeostasis/metabolism
• serum creatinine levels are 1.36 times higher than in controls
• blood urea nitrogen levels are 1.4 times higher than in controls
• urine pH of about 15% of mutants is greater than or equal to 8 compared to 5-7 in wild-type

Mouse Models of Human Disease
OMIM IDRef(s)
Vesicoureteral Reflux 1; VUR1 193000 J:77653