renal/urinary system
• increase in the number of apoptotic cells in the glomeruli
|
• mutants exhibit excretion of high molecular weight proteins in the urine
|
albuminuria
(
J:168799
)
• mutants exhibit excretion of albumin in the urine
|
• females develop severe nephropathy at 4-6 months of age
|
• kidney hypertrophy
|
• increase in kidney weight due to glomerulomegaly
|
• nephrons exhibit coarsening and fusion of podocyte foot processes
|
• cell destruction in the glomeruli is indicated by the accumulation of electrolucent material in podocyte foot processes
|
• fusion of podocyte foot processes
|
• glomerular basement membrane thickening
|
• increase in glomerular cell number
|
• mesangial hypercellularity
|
• severe glomerular inflammation associated with increased renal macrophage infiltration
|
• mesangial matrix expansion
|
• glomerulomegaly; glomeruli are enlarged in focal regions within the kidneys
|
homeostasis/metabolism
• mutants exhibit excretion of high molecular weight proteins in the urine
|
albuminuria
(
J:168799
)
• mutants exhibit excretion of albumin in the urine
|
immune system
• peritoneal macrophages exhibit defective phagocytosis resulting in impaired apoptotic cell uptake and an accumulation of apoptotic cells
|
• peritoneal macrophages exhibit lower phagosome content and smaller filopodia than control macrophages
|
• mutants exhibit a marked deposition of IgG in the mesangial matrix
|
• mutants exhibit a marked deposition of IgM in the mesangial matrix
|
• apoptotic cells in mutants cannot reduce proinflammatory response as in controls, indicating enhanced proinflammatory macrophage activation within the kidney glomeruli
|
• mutants develop autoantibodies against nuclear proteins, ssDNA, and dsDNA
|
• severe glomerular inflammation associated with increased renal macrophage infiltration
|
hematopoietic system
• peritoneal macrophages exhibit defective phagocytosis resulting in impaired apoptotic cell uptake and an accumulation of apoptotic cells
|
• peritoneal macrophages exhibit lower phagosome content and smaller filopodia than control macrophages
|
• mutants exhibit a marked deposition of IgG in the mesangial matrix
|
• mutants exhibit a marked deposition of IgM in the mesangial matrix
|
• apoptotic cells in mutants cannot reduce proinflammatory response as in controls, indicating enhanced proinflammatory macrophage activation within the kidney glomeruli
|
cellular
• mesangial hypercellularity
|
• increase in the number of apoptotic cells in the glomeruli
|
• peritoneal macrophages exhibit defective phagocytosis resulting in impaired apoptotic cell uptake and an accumulation of apoptotic cells
|
growth/size/body
• kidney hypertrophy
|
• increase in kidney weight due to glomerulomegaly
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
systemic lupus erythematosus | DOID:9074 |
OMIM:152700 OMIM:300809 OMIM:605480 OMIM:608437 OMIM:609903 OMIM:609939 OMIM:610065 OMIM:610066 OMIM:612254 OMIM:612378 OMIM:613145 OMIM:614420 |
J:168799 |