renal/urinary system
• increased mesangial cell proliferation at 12 weeks of age
|
• podocyte detachment at 12 weeks of age
|
albuminuria
(
J:333727
)
• progressive albuminuria, starting at 6 weeks after birth
• however, no increase in proteinuria is detected at birth
|
• TEM analysis showed pronounced widening and misconfiguration (effacement) of podocyte foot processes at 8 and 12 weeks of age
• 3D SIM microscopy showed reduced filtration slit density (FSD), indicating aberrant foot process architecture at 8 weeks of age
• SEM revealed marked simplification, reduced branching, and misconfiguration of podocyte foot processes
|
• marked rarefaction and loss of slit diaphragms at 12 weeks of age
|
• progressive podocyte loss
|
• mesangial sclerosis at 12 weeks of age
|
• mice develop a nephrotic syndrome with a late-onset focal segmental glomerulosclerosis (FSGS)-like phenotype in adulthood
• a significantly increased glomerulosclerosis score is noted at 8 and 12 weeks of age
|
• tubular dilation at 12 weeks of age
|
renal cast
(
J:333727
)
• formation of proteinaceous casts at 12 weeks of age
|
• progressive loss of filtration-barrier function, starting at 6 weeks after birth
|
cellular
• increased mesangial cell proliferation at 12 weeks of age
|
• podocyte detachment at 12 weeks of age
|
homeostasis/metabolism
albuminuria
(
J:333727
)
• progressive albuminuria, starting at 6 weeks after birth
• however, no increase in proteinuria is detected at birth
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
focal segmental glomerulosclerosis | DOID:1312 |
OMIM:PS603278 |
J:333727 |