Analysis Tools
vision/eye
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• 12-month-old retinas show an increase in CD45high, CD11b, and CD169 immunopositive populations, indicating microglial inflammation and/or recruitment of monocytes and macrophages
• an increase in activated immune-related cells (CD11b+CD11chighMHC class II+) is seen at 3, 6, 9, and 12 months
• the CD169+ population is increased at 12 months of age, indicating an increase in pathogenic phagocytes in the retina
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• 1-month-old mice exhibit an increase in the paracellular space in the interphotoreceptor matrix
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• inner segments of cones are swollen
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• 1-month-old mice show disorganized and shorter inner segments
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• 1-month-old mice show disorganized and shorter inner segments
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• one of the most abnormal structures seen in the outer segments is a pattern of spirals or concentric circles that contain darker stained membranes
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• marker analysis suggests a loss of compartmentalization of the disc membranes
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• 1-month-old mice show disorganized and shorter outer segments
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• cone outer segments are practically missing
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• retinas exhibit membranous aggregations of outer segments that are completely disorganized
• 1-month-old mice show disorganized and shorter outer segments and inner segments
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• unusual intracellular vacuoles in the retinal pigment epithelium are seen in 1-month-old mice
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• increase in inner nuclear layer thickness is seen at 20 months of age
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• differences in outer nuclear layer thickness start to be significant from 3 months of age and the outer nuclear layer continues to degenerate over time
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• retinas show a decrease in synaptic contacts between photoreceptors and horizontal cells and between photoreceptors and ON rod bipolar cells in the outer plexiform layer indicating aberrant synaptic connectivity within this layer
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• total retinal thickness is thinner by 3 months of age
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• retinas exhibit elevated reactive gliosis not only at the inner margin but also throughout the entire length of Muller cells
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• ERG responses progressively diminish with age, with responses being more severely affected than in heterozygotes
• photopic ERG responses show a progressive age-dependent diminution in a- and b-wave values compared to wild-type mice
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• the maximum scotopic a-wave values decrease from 1 month of age (34% reduction) to almost diminished (83% reduction) at 9 months of age
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• the maximum scotopic b-wave responses are reduced, although the reduction is seen later than the a-wave reduction indicating that loss of function is earlier and more marked in the outer retina than in the inner retina
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• visual acuity progressively decreases with age; mice show 29% reduction in visual acuity at 3 months of age and 78% reduction at 12 months of age
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hematopoietic system
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• retinas exhibit an increased number of Iba1+ cells with an ameboid shape, indicating microglial activation
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immune system
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• retinas exhibit an increased number of Iba1+ cells with an ameboid shape, indicating microglial activation
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• 12-month-old retinas show an increase in CD45high, CD11b, and CD169 immunopositive populations, indicating microglial inflammation and/or recruitment of monocytes and macrophages
• an increase in activated immune-related cells (CD11b+CD11chighMHC class II+) is seen at 3, 6, 9, and 12 months
• the CD169+ population is increased at 12 months of age, indicating an increase in pathogenic phagocytes in the retina
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nervous system
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• retinas exhibit an increased number of Iba1+ cells with an ameboid shape, indicating microglial activation
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• 1-month-old mice exhibit an increase in the paracellular space in the interphotoreceptor matrix
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• inner segments of cones are swollen
|
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• 1-month-old mice show disorganized and shorter inner segments
|
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• 1-month-old mice show disorganized and shorter inner segments
|
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• one of the most abnormal structures seen in the outer segments is a pattern of spirals or concentric circles that contain darker stained membranes
|
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• marker analysis suggests a loss of compartmentalization of the disc membranes
|
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• 1-month-old mice show disorganized and shorter outer segments
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• cone outer segments are practically missing
|
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• retinas exhibit membranous aggregations of outer segments that are completely disorganized
• 1-month-old mice show disorganized and shorter outer segments and inner segments
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• mice show aberrant synaptic connectivity within the retina outer plexiform layer
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pigmentation
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• unusual intracellular vacuoles in the retinal pigment epithelium are seen in 1-month-old mice
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| partial central choroid dystrophy | DOID:9822 |
OMIM:613105 |
J:342243 | |
