mortality/aging
• most mutant pups die during the early postnatal period
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vision/eye
• apoptosis is increased at postnatal stages, especially in the ectopic projections of the outer nuclear layer
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• the number of amacrine cells is significantly reduced
• amacrine cells are not produced during early retinogenesis at E14.5 and E17.5
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• horizontal cells are absent at P8 and P20
• horizontal cells are not produced during early retinogenesis at E17.5
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• at P8 and P20 the retinas are thinner than normal, particularly in the inner nuclear, inner plexiform, and ganglion cell layers
• at P20 the outer plexiform layer is absent, however the outer nuclear layer is thicker than normal and has ectopic projections
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• expression of a marker for rods and cones is significantly increased
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• retinal ganglion cells are abnormally located within the inner margin of the inner nuclear layer
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• abnormal retinal progenitor proliferation; proliferation of retinal progenitors is reduced about 25% at E15.5 and E17.5
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nervous system
• the number of amacrine cells is significantly reduced
• amacrine cells are not produced during early retinogenesis at E14.5 and E17.5
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• expression of a marker for rods and cones is significantly increased
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• retinal ganglion cells are abnormally located within the inner margin of the inner nuclear layer
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• horizontal cells are absent at P8 and P20
• horizontal cells are not produced during early retinogenesis at E17.5
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cellular
• apoptosis is increased at postnatal stages, especially in the ectopic projections of the outer nuclear layer
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