Analysis Tools
vision/eye
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• increased apoptosis is detected in the outer plexiform layer, inner nuclear layer, and ganglion cell layer, indicating that apoptosis is not limited to photoreceptor cells
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• GS and IBA-1+ cells are more prevalent in the retina and show migratory behavior towards the photoreceptor layers, targeting the outer nuclear layer and outer segments, indicating microglial and Muller cells activation
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• the retinal fundus exhibits a pigmented retina, a narrow fundus vascular diameter, and pale papilla
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• narrow fundus vascular diameter
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• number of retinal ganglion cells, which ramify in multiple layers of the inner plexiform layer, is decreased
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• mice show decreased numbers of photoreceptor cells
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• decrease in number of ON bipolar cells, accompanied by axonal failure at P30
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• decrease in both length and density of dendritic processes of rod bipolar cells in the outer plexiform layer
• somas of bipolar cells lack the highly organized packing and their axons are shrunk in length
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• horizontal cell somas and dendrites show irregular protrusions and loss of dense plexus of processes
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• structural organization of cone photoreceptors is disrupted accompanied by a loss of their regular parallel alignment within the retinal layers
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• rods show disrupted structural integrity and sparse pedicles
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• rapid and progressive degeneration of photoreceptor cells, with severe thinning by P30
• changes in thickness of inner segment/outer segment and outer nuclear layer are the most apparent
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• cones labeled by anti-arrestin antibodies have lightly stained somas and the axons are not visible indicating loss of cones
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• thickness of each layer of the retina is reduced at P30
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• at P30, the retinal thickness is reduced by nearly half that of controls
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• scotopic a-wave of the combined rod-cone response is reduced by 69.6% at P30
• the scotopic b-wave, which reflects response from rod bipolar cells, is reduced by 86.7% at a light intensity of 10 cd s/m2 at P30
• the photopic a-wave response is reduced by 55% at P30
• the photopic b-wave is reduced by 81.3% at a light intensity of 100 cd s/m2 at P30
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• at most light intensities, the scotopic and photopic ERG a/b wave amplitudes exhibit a significant decrease
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• at most light intensities, the scotopic and photopic ERG a/b wave amplitudes exhibit a significant decrease
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• visual dysfunction; both the a-wave and b-wave are almost completely extinguished indicating dysfunction of both photoreceptor cells and bipolar cells
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nervous system
astrocytosis
(
J:377711
)
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• GFAP immunoreactivity in the retina indicates increased reactive gliosis of astrocytes
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• GS and IBA-1+ cells are more prevalent in the retina and show migratory behavior towards the photoreceptor layers, targeting the outer nuclear layer and outer segments, indicating microglial and Muller cells activation
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• GS and IBA-1+ cells are more prevalent in the retina and show migratory behavior towards the photoreceptor layers, targeting the outer nuclear layer and outer segments, indicating microglial and Muller cells activation
|
|
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• number of retinal ganglion cells, which ramify in multiple layers of the inner plexiform layer, is decreased
|
|
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• mice show decreased numbers of photoreceptor cells
|
|
|
• decrease in number of ON bipolar cells, accompanied by axonal failure at P30
|
|
|
• decrease in both length and density of dendritic processes of rod bipolar cells in the outer plexiform layer
• somas of bipolar cells lack the highly organized packing and their axons are shrunk in length
|
|
|
• horizontal cell somas and dendrites show irregular protrusions and loss of dense plexus of processes
|
|
|
• structural organization of cone photoreceptors is disrupted accompanied by a loss of their regular parallel alignment within the retinal layers
|
|
|
• rods show disrupted structural integrity and sparse pedicles
|
|
|
• rapid and progressive degeneration of photoreceptor cells, with severe thinning by P30
• changes in thickness of inner segment/outer segment and outer nuclear layer are the most apparent
|
|
|
• cones labeled by anti-arrestin antibodies have lightly stained somas and the axons are not visible indicating loss of cones
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• mice exhibit synaptic defects including shortened synaptic ribbons and loss of invaginated triads
• synaptic contacts between photoreceptors and ON bipolar cells show loss of the typical horseshoe-shaped morphology, characterized by an irregular shape and position of the rod bipolar cell apical dendrites
• dendrites of horizontal cells are flattened and narrowed, and the number of synaptic junctions between photoreceptors and horizontal cells is reduced
• only a few residual ribbon synapses characterized by shortened lengths and blurred structural boundaries are seen
• postsynaptic sties lack the typical invaginating synaptic structure
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immune system
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• GS and IBA-1+ cells are more prevalent in the retina and show migratory behavior towards the photoreceptor layers, targeting the outer nuclear layer and outer segments, indicating microglial and Muller cells activation
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hematopoietic system
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• GS and IBA-1+ cells are more prevalent in the retina and show migratory behavior towards the photoreceptor layers, targeting the outer nuclear layer and outer segments, indicating microglial and Muller cells activation
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cellular
astrocytosis
(
J:377711
)
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• GFAP immunoreactivity in the retina indicates increased reactive gliosis of astrocytes
|
|
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• increased apoptosis is detected in the outer plexiform layer, inner nuclear layer, and ganglion cell layer, indicating that apoptosis is not limited to photoreceptor cells
|
|
|
• GS and IBA-1+ cells are more prevalent in the retina and show migratory behavior towards the photoreceptor layers, targeting the outer nuclear layer and outer segments, indicating microglial and Muller cells activation
|
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• GS and IBA-1+ cells are more prevalent in the retina and show migratory behavior towards the photoreceptor layers, targeting the outer nuclear layer and outer segments, indicating microglial and Muller cells activation
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cardiovascular system
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• narrow fundus vascular diameter
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| choroideremia | DOID:9821 |
OMIM:303100 |
J:377711 | |
