vision/eye
• rod and cone signals are not transmitted effectively
|
• vascular development on the vitreal face of the retina is retarded
• retinal mural cells are thinner and lower in density than in controls
|
• electroretinogram a wave is relatively normal
• electroretinogram b wave is markedly reduced
|
behavior/neurological
• rod and cone signals are not transmitted effectively
|
• rod and cone signals are not transmitted effectively
|
nervous system
• progressive reduction in vascular density in the cerebellum
• misshapen capillaries in the cerebellum
• endothelial projections into the capillary lumen in the cerebellum
• leakage of IgG into the cerebellum
• frequent cerebellar hemorrhage but not in cerebral cortex
|
• cerebellar degeneration observed
|
cardiovascular system
• progressive reduction in vascular density in the cerebellum
• misshapen capillaries in the cerebellum
• endothelial projections into the capillary lumen in the cerebellum
• leakage of IgG into the cerebellum
• frequent cerebellar hemorrhage but not in cerebral cortex
|
• vascular development on the vitreal face of the retina is retarded
• retinal mural cells are thinner and lower in density than in controls
|
renal/urinary system
small kidney
(
J:170839
)
• at E18.5
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
exudative vitreoretinopathy | DOID:0050535 |
OMIM:PS133780 |
J:158585 |