Analysis Tools
mortality/aging
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• less than 10% of homozygotes survive past weaning
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• no homozygotes seen at weaning; stage of lethality not specified
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• authors state that ~90% of homozygotes exhibit embryonic or perinatal lethality
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growth/size/body
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• surviving homozygotes are smaller than littermate controls
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• at P20, homozygotes show a 30-40% reduction in body weight relative to controls
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behavior/neurological
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• at P45, surviving homozygotes fall immediately off the accelerating rod
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nervous system
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• homozygotes exhibit an early-onset, progressive Purkinje cell degeneration in a consistent, specific pattern
• at P20, only a few areas of Purkinje cell loss are noted, most evident in lobes 8 and 11; by P45 and P60, degeneration has progressed, affecting other lobes
• however, surviving Purkinje cells cluster in consistent lobes and appear normal with no differences in molecular layer morphology
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• at P20, the cerebellum is smaller, with a 42% reduction in cross-sectional area measured at the midline relative to heterozygous and wild-type controls
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• at P20, gliosis is detected in areas of Purkinje cell loss; by P60, large areas of gliosis are observed
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homeostasis/metabolism
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• in the neonatal cerebellum, phosphatase activity is decreased toward soluble phosphoinositol substrates
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