Analysis Tools
vision/eye
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• rhodopsin is mislocated to the inner segment and outer nuclear layer of the retina compared to being only at the outer segment in controls
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• lipid droplets are detected in the inner segment
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• lipid droplets are detected in the outer segment
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• rod photoreceptor outer segment is shortened and sparse in 12-month-old mice
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• the density of the cone photoreceptor outer segment is reduced in the retina at 12 months of age
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• photoreceptor cells are atrophied and there are many intervals between the inner segment/outer segment junction at 12 months of age
• cones degenerate later than rods
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• the retinal pigment epithelium is damaged in 12-month-old mice
• the boundary of retinal pigment epithelium cells is obscure in 12-month-old retina
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• lipid droplets are detected in the inner nuclear layer
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• lipid droplets are detected in the inner plexiform layer
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• the outer nuclear layer begins to thin at 10 months of age and is reduced to 50% at 12 months of age
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• mice show progressive retinal degeneration
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• progressive reduction in retinal thickness, especially in the outer nuclear layer from 10 to 18 months of age
• light treatment of 6-week-old mice accelerates disease progression, with a greater reduction in retinal thickness
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• crystal deposits are first seen at 6 weeks of age, with an increase in crystals at 12 weeks and by 28 weeks, the fundus is completely filled with large and round crystals
• crystals are deposited in the superficial and deep retinal layers
• light treatment of 6-week-old mice accelerates disease progression, with increased crystal deposition in the fundus
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• a cloud of lipid droplets is seen in the sclera of 12-month-old mice
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• anomalous lipid metabolism in the ocular tissue
• Muller cells in retina exhibit neuronal stress at 12 months of age
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• the diminution in responses of photopic and flicker ERG is detected from the age of 7 months, indicating that cones degenerate later than rods
• at 12 months, the responses of scotopic, photopic and flicker ERG are decreased
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• amplitude of scotopic a-wave is reduced generally from the age of 5 months
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• amplitude of scotopic b-wave is reduced generally from the age of 5 months
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homeostasis/metabolism
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• anomalous lipid metabolism in the ocular tissue
• levels of C20:3N3, C20:3N6, C20:4N6, C22:0, C22:5N3, and C22:5N6 free fatty acids are higher in ocular tissue
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cellular
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• Muller cells and microglia cells in the retina exhibit oxidative stress
• light treatment of 6-week-old mice accelerates oxidative stress of microglial cells
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hematopoietic system
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• activated microglia cells are seen not only in the inner plexiform layer and outer plexiform layer, but also extend into the photoreceptor outer segments and RPE at 12 months of age
• when mild atrophy occurs in the outer nuclear layer, some microglia cells in the inner plexiform layer exhibit some extended cell processes into the outer nuclear layer convergently in 10-month-old mice
• total number of CD68+ microglia cells is increased in the retina
• light treatment of 6-week-old mice accelerates disease progression, with increased activation of microglial cells and Muller cells
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immune system
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• activated microglia cells are seen not only in the inner plexiform layer and outer plexiform layer, but also extend into the photoreceptor outer segments and RPE at 12 months of age
• when mild atrophy occurs in the outer nuclear layer, some microglia cells in the inner plexiform layer exhibit some extended cell processes into the outer nuclear layer convergently in 10-month-old mice
• total number of CD68+ microglia cells is increased in the retina
• light treatment of 6-week-old mice accelerates disease progression, with increased activation of microglial cells and Muller cells
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nervous system
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• lipid droplets are detected in the inner segment
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• lipid droplets are detected in the outer segment
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• rod photoreceptor outer segment is shortened and sparse in 12-month-old mice
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• the density of the cone photoreceptor outer segment is reduced in the retina at 12 months of age
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• photoreceptor cells are atrophied and there are many intervals between the inner segment/outer segment junction at 12 months of age
• cones degenerate later than rods
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• Muller cells in retina exhibit neuronal stress, with fibers extending into the outer nuclear layer at 12 months of age
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• activated microglia cells are seen not only in the inner plexiform layer and outer plexiform layer, but also extend into the photoreceptor outer segments and RPE at 12 months of age
• when mild atrophy occurs in the outer nuclear layer, some microglia cells in the inner plexiform layer exhibit some extended cell processes into the outer nuclear layer convergently in 10-month-old mice
• total number of CD68+ microglia cells is increased in the retina
• light treatment of 6-week-old mice accelerates disease progression, with increased activation of microglial cells and Muller cells
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pigmentation
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• the retinal pigment epithelium is damaged in 12-month-old mice
• the boundary of retinal pigment epithelium cells is obscure in 12-month-old retina
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Bietti crystalline corneoretinal dystrophy | DOID:0050664 |
OMIM:210370 |
J:321817 | |
