cardiovascular system
• delayed superficial blood vessel growth in retina
• reduced vascular density in retina
|
hemorrhage
(
J:328283
)
• extensive blood leakage in retina
|
vision/eye
• delayed superficial blood vessel growth
• reduced vascular density
• extensive blood leakage
|
• changes related to degeneration are more prominent in the outer layers of the retina (photoreceptor layers) and least pronounced in the inner layers
|
• loss of ganglion cell nuclei, especially large ganglion cells, is seen in some degenerating retinas
|
• degeneration of the photoreceptors is seen in some degenerating retinas
|
• thinning and vacuolation of the pigment epithelium layer are seen in some degenerating retinas
|
• disorganization of the inner nuclear layer is seen in some degenerating retinas
|
• thinning of the inner plexiform layer is seen in some degenerating retinas
|
• gliosis of the retinal nerve fiber layer is seen in some degenerating retinas
|
• thinning, disorganization, and pyknosis of the outer nuclear layer are seen in some degenerating retinas
|
• thinning and disorganization of the outer plexiform layer, sometimes with juxtaposition of the photoreceptor nuclei and the bipolar cell or inner nuclear layer, are seen in some degenerating retinas
|
• at 7 weeks of age mild to severe retinal degeneration is seen and at 10 months of age all homozygotes display moderate to severe retinal degeneration
• severity of degeneration usually differs between the two eyes of affected homozygotes
|
retina fold
(
J:101679
)
• retinal folds are seen in some degenerating retinas
|
behavior/neurological
• homozygotes spend significantly less time in the central region in an open field test
|
• homozygotes travel less total distance in an open field test
|
nervous system
• gliosis of the retinal nerve fiber layer is seen in some degenerating retinas
|
• loss of ganglion cell nuclei, especially large ganglion cells, is seen in some degenerating retinas
|
• degeneration of the photoreceptors is seen in some degenerating retinas
|
pigmentation
• thinning and vacuolation of the pigment epithelium layer are seen in some degenerating retinas
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
exudative vitreoretinopathy | DOID:0050535 |
OMIM:PS133780 |
J:328283 |