Mouse Genome Informatics
hm
    Cd151tm1Nki/Cd151tm1Nki
involves: 129P2/OlaHsd * FVB/N
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       

Glomerular basement membrane abnormalities and foot process effacement in kidneys of mildly affected Cd151tm1Nki/Cd151tm1Nki and Itga3tm1Son/Itga3tm1Son Tg(NPHS2-cre)295Lbh/0 mice

growth/size/body
• exhibit substantial loss of body weight before 9 months of age

renal/urinary system
• develop proteinuria before 3 weeks of age which progresses to massive proteinuria with age
• the onset and degree of proteinuria are variable
• urinary albumin increases with age and reaches a plateau at 6 wks of age
• focal interstitial inflammation in close proximity to interlobular blood vessels
• mice exhbit renal abnormalities that are seen in patients with nephropathy with pretibial epidermolysis bullosa and deafness, however do no develop the typical skin or hearing abnormalities
• exhibit interstitial and periglomerular fibrosis
• capsules are granulated because of cortical degeneration in severely affected kidneys
• exhibit loss of podocyte foot processes
• foot processes in contact with the abnormal GBM are effaced
• exhibit complete loss of glomerular epithelial slit diaphragm architecture
• glomerulosclerosis precedes the loss of glomerular epithelial slit diaphragm components
• glomerular basement membrane (GBM) of some capillary loops is disorganized, laminated, abnormally thick and forms extensive spikes
• GBM of some capillary loops is abnormally thick
• capillary collapse in severely affected kidneys
• the capillary endothelium is swollen
• fenestrations are occasionally lost
• mesangial hypercellularity
• show expansion of the mesangial matrix
• exhibit focal glomerulosclerosis; glomeruli are segmentally or globally sclerosed with extensive deposits of basement membrane components
• parietal epithelial crescents in severely affected kidneys
• tuft adhesions to Bowman's capsule with extracapillary cell proliferation and fibrosis are observed
• severely affected kidneys are contracted
• proximal tubules either show degeneration of varying severity or are dilated
• proximal tubules are either dilated or show degeneration of varying severity
• in severe cases, proximal tubules exhibit protein casts indicative of proteinuria
• severely affected kidneys have a granular surface while mildly affected kidneys show a relatively smooth and intact surface
• capsules are granulated because of cortical degeneration in severely affected kidneys
• proximal tubules may show degeneration of varying severity
• develop severe renal failure, caused by progressive abnormalities of the glomerular basement membrane, loss of podocyte foot processes, glomeruloscelrosis, and cystic tubular dilation

homeostasis/metabolism
• develop proteinuria before 3 weeks of age which progresses to massive proteinuria with age
• the onset and degree of proteinuria are variable
• urinary albumin increases with age and reaches a plateau at 6 wks of age
• exhibit interstitial and periglomerular fibrosis

immune system
• focal interstitial inflammation in close proximity to interlobular blood vessels

cardiovascular system
• capillary collapse in severely affected kidneys
• the capillary endothelium is swollen
• fenestrations are occasionally lost

hearing/vestibular/ear
N
• do not exhibit a hearing impairment (J:114988)

integument
N
• skin integrity is not impaired (J:114988)

Mouse Models of Human Disease
OMIM IDRef(s)
Nephropathy with Pretibial Epidermolysis Bullosa and Deafness 609057 J:114988