behavior/neurological
• at 12 weeks of age, homozygotes display hyperactivity when placed in a new cage
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• at 10-14 weeks of age, 65% of homozygotes clasp their hindlimbs when lifted by the tail, unlike wild-type controls
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• at 10-11 weeks of age, homozygotes show gait abnormalities in footprint analysis, with significantly shorter sway and stance length relative to wild-type controls
• however, stride length is not significantly altered
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• at 12 weeks of age, homozygotes display hyperactivity in a new cage relative to wild-type controls
• in the open field assay, homozygotes show a 2-fold increase in spontaneous hyperactivity relative to wild-type and heterozygous controls, as measured by the total number of squares crossed during 30 s
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nervous system
• at 12-14 weeks of age, homozygotes display stunted growth of the dendritic trees in Purkinje cells
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• in the cerebellum, both acetylcholine and choline levels are significantly decreased, whereas dipalmitoylphosphatidylcholine (DPPC) levels are markedly increased relative to those in wild-type controls
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• acetylcholine levels are significantly decreased in the cerebellum
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