vision/eye
• at E18.5, there is dramatic increase in apoptotic retinal ganglion cells compared to heterozygous retinas
• apoptotic cells are more numerous at P1, P6, and P12 than in controls but differences are less than at E18
• more apoptotic cells are also detected in the ganglion cell layer, inner nuclear layer and outer nuclear layer but differences from controls are not significant after P12
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• density of retinal ganglion cell (RGC) axon bundles is notably reduced
• orientation of RGC axons towards optic disk is abnormal
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• 30% reduction in number of retinal ganglion cell RGC axons in peripheral and central regions of the retina compared to heterozygotes
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• in adults, optic nerves are 30% smaller than heterozygous controls
• few axons are myelinated compared to control optic nerves; where present, myelin ensheathment is thinner, disorganized, and loosely packed
• some neurites show smaller diameters than normal axons and contain large numbers of microtubules instead of neurofilaments
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• thickness is slightly reduced relative to controls
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nervous system
• density of retinal ganglion cell (RGC) axon bundles is notably reduced
• orientation of RGC axons towards optic disk is abnormal
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• 30% reduction in number of retinal ganglion cell RGC axons in peripheral and central regions of the retina compared to heterozygotes
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• in adults, optic nerves are 30% smaller than heterozygous controls
• few axons are myelinated compared to control optic nerves; where present, myelin ensheathment is thinner, disorganized, and loosely packed
• some neurites show smaller diameters than normal axons and contain large numbers of microtubules instead of neurofilaments
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cellular
• at E18.5, there is dramatic increase in apoptotic retinal ganglion cells compared to heterozygous retinas
• apoptotic cells are more numerous at P1, P6, and P12 than in controls but differences are less than at E18
• more apoptotic cells are also detected in the ganglion cell layer, inner nuclear layer and outer nuclear layer but differences from controls are not significant after P12
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