Analysis Tools
vision/eye
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• an increase in Muller cell reactive gliosis is seen
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• the bipolar cells appear expanded or disorganized
• cells counts indicate an increase in the proportion of bipolar cells greater than expected from rod loss alone (22% vs 16% expected from rod loss)
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• photoreceptor numbers are about 13% of wild-type, exceeding the predicted loss of rods alone
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• the number of cones is reduced
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• at P12 cone morphology is abnormal
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• a central to peripheral loss of photoreceptors was seen beginning at P12
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• cell counts indicate a loss of 70% cells in the retina through rod death
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• at P12 the outer nuclear layer is thinner than normal
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• at P12, ribbon synapse formation in the outer plexiform layer is disrupted
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• electroretinography shows less than 1% of normal rod activity with both the a- and b-waves absent
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nervous system
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• an increase in Muller cell reactive gliosis is seen
|
|
• photoreceptor numbers are about 13% of wild-type, exceeding the predicted loss of rods alone
|
|
• the number of cones is reduced
|
|
• the bipolar cells appear expanded or disorganized
• cells counts indicate an increase in the proportion of bipolar cells greater than expected from rod loss alone (22% vs 16% expected from rod loss)
|
|
• at P12 cone morphology is abnormal
|
|
• a central to peripheral loss of photoreceptors was seen beginning at P12
|
|
• cell counts indicate a loss of 70% cells in the retina through rod death
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Leber congenital amaurosis 4 | DOID:0110332 |
OMIM:604393 |
J:94655 | |
