Loss of Function
Alport syndrome
Genotype
Col4a3 knockout
Mechanism
Loss of Function
Phenotype
Locomotor activity, Fatigue, Stress, Anxiety
Biomarker
Creatinine, Blood Urea Nitrogen, Nephrin
Gene Expression Markers
lama5, nphs1, TNF-α, col1a1, mmp9, nrf2, casp3
Physiology Changes
Proteinuria, Edema, Osmoregulation, Hypertension, Lethargy
Histology Grading Endpoint
Glomerular basement membrane thinning, Increased mesangial matrix, Tubular atrophy, Increased fibronectin