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Loss of Function

Polycystic kidney disease

  • Genotype

    pkd1/pkd2

  • Mechanism

    Loss of Function

  • Phenotype

    Locomotor activity, Fatigue, Motor coordination, Touch evoke escape response, Depression,Exploratory behavior 

  • Biomarker

    Creatinine, Blood Urea Nitrogen, Electrolytes, Polycystin-1, 2

  • Gene Expression Markers

    pkd1, pkd2, ift88, kif3a, il1β, tnfα, tgfβ1, col1a1

  • Physiology Changes

    Electrolyte dysregulation, Cyst growth, Kidney enlargement

  • Histology Grading Endpoint

    Dilated pronephric tubules, Loss of tubular architecture, Cyst formation, Reduced cilia / abnormal cilia morphology

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