Analysis Tools
vision/eye
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• display altered levels of long-fatty chain n-3 fatty acids in the eyeballs of P0 pups with no photoreceptors
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• display altered levels of long-fatty chain n-3 fatty acids in the retina at 6 months of age
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• structural abnormalities at the outer/inner segment interface are seen as early as 2 months of age
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• by 10 months of age, but not earlier, the length of rod outer segments and the thickness of the outer nuclear layer appears thin
• rod outer segment length at the far periphery and mid periphery is significantly shorter at 10 months of age, but no difference in the central region
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• develop progressive photoreceptor degeneration from 2 months of age
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• significant cone photoreceptor loss by 6 months of age, with a further decrease by 18 months
• decrease in the number of cones expressing S opsin but not M opsin in mutants 6 months or older
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• loss of rod photoreceptors after 10 months of age
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• abnormalities are seen as early as 2 months of age and include increased thickness, undigested outer segment packets, lipofuscin, vacuoles, and deposits of pigmented debris in the subretinal space
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• by 10 months of age, the outer nuclear layer appears thin and contains fewer cells
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• the outer plexiform layer contains gaps and exhibits areas surrounding the rod spherules that appear to be empty and lack the extracellular matrix
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• at 8 months of age, b- and a-wave amplitudes are higher in dark- and light-adapted responses
• the implicit time of the b-wave in the dark-adapted responses is significantly delayed
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• the b-wave amplitudes are higher in the cone-driven light-adapted responses at 8 and 15 months of age
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homeostasis/metabolism
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• display altered levels of long-fatty chain n-3 fatty acids in the eyeballs of P0 pups with no photoreceptors and in the retina at 6 months of age
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nervous system
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• structural abnormalities at the outer/inner segment interface are seen as early as 2 months of age
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• by 10 months of age, but not earlier, the length of rod outer segments and the thickness of the outer nuclear layer appears thin
• rod outer segment length at the far periphery and mid periphery is significantly shorter at 10 months of age, but no difference in the central region
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• develop progressive photoreceptor degeneration from 2 months of age
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• significant cone photoreceptor loss by 6 months of age, with a further decrease by 18 months
• decrease in the number of cones expressing S opsin but not M opsin in mutants 6 months or older
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• loss of rod photoreceptors after 10 months of age
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pigmentation
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• abnormalities are seen as early as 2 months of age and include increased thickness, undigested outer segment packets, lipofuscin, vacuoles, and deposits of pigmented debris in the subretinal space
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Stargardt disease | DOID:0050817 |
OMIM:248200 OMIM:600110 OMIM:603786 |
J:114752 | |
