Analysis Tools
behavior/neurological
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• an unsteady gait can be observed in mutant mice at approximately 6-9 weeks of age
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cellular
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• between 3 and 4 weeks of age progressive apoptosis of neurons in the inner granule layer is found, between 5 and 8 weeks of age apoptosis of granule cells in the dentate gyrus, CA2 pyramidal neurons, and layer IV cortical neurons are found, and many neorons in the retina including photoreceptors and amacrine, horizontal, and ganglion cells degenerate during this time
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• the point mutation in n-Tr20 results in decreased levels of processed n-Tr20 and increased levels of immature n-Tr20 over time, particularly in the cerebellum, and the reduction in the available pool of this isodecoder results in ribosomal stalling at AGA codons, which is exacerbated in the absence of functional GTPBP2
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mortality/aging
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• homozygotes die at 8 to 9 weeks of age
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nervous system
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• between 3 and 4 weeks of age progressive apoptosis of neurons in the inner granule layer is found, between 5 and 8 weeks of age apoptosis of granule cells in the dentate gyrus, CA2 pyramidal neurons, and layer IV cortical neurons are found, and many neorons in the retina including photoreceptors and amacrine, horizontal, and ganglion cells degenerate during this time
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• increased pyknotic nuclei are found in pyramidal neurons in the CA2 but not CA1 region of the hippocuampus
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• progressive apoptosis of inner granule layer neurons is found between 3 and 4 weeks of age
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vision/eye
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• degeneration of many neurons in the retina occurs by 2 months of age, including photoreceptors, amacrine cells, horizontal cells, and ganglion cells
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homeostasis/metabolism
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• the point mutation in n-Tr20 results in decreased levels of processed n-Tr20 and increased levels of immature n-Tr20 over time, particularly in the cerebellum, and the reduction in the available pool of this isodecoder results in ribosomal stalling at AGA codons, which is exacerbated in the absence of functional GTPBP2
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