vision/eye
• pericellular varicosities in the retina are significantly reduced compared to in wild-type mice indicating a disturbance in the dopaminergic network
|
• between P10 and P17, mice exhibit a loss of amacrine cells
• adult mice exhibit a 34% reduction in the number of amacrine cells found in the peripheral retina compared to in wild-type mice
• mice exhibit a reduction in the number of multiple subtypes of amacrine neurons compared to in wild-type mice
• however, embryonic development of amacrine cells is normal
|
• loss of horizontal cells after P5
• adult mice exhibit a 37% decrease in horizontal cells compared to in wild-type retinas
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• cellularity is reduced 15% while the number of ganglion cells is normal
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• cellularity is reduced 25% with the numbers of Muller, bipolar and photoreceptor cells are normal
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• the b-wave is reduced 30% at the five highest light intensities tested compared to in wild-type mice
• oscillatory potentials are reduced in amplitude at multiple light intensities compared to in wild-type mice
• however, the a-wave is normal
|
nervous system
• between P10 and P17, mice exhibit a loss of amacrine cells
• adult mice exhibit a 34% reduction in the number of amacrine cells found in the peripheral retina compared to in wild-type mice
• mice exhibit a reduction in the number of multiple subtypes of amacrine neurons compared to in wild-type mice
• however, embryonic development of amacrine cells is normal
|
• loss of horizontal cells after P5
• adult mice exhibit a 37% decrease in horizontal cells compared to in wild-type retinas
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
alpha thalassemia-X-linked intellectual disability syndrome | DOID:0110030 |
OMIM:301040 |
J:145002 |