Analysis Tools
behavior/neurological
digestive/alimentary system
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• mice exhibit an intestinal motility defect showing a delay in intestinal transit
• however, mice do not exhibit alterations in smooth muscle of the bowel wall
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• mice develop intestinal pseudo-obstruction
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• enterocolitis is seen in some symptomatic mice
• however, ganglionitis is not seen
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growth/size/body
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• prior to death, mice develop abdominal distension, with marked dilatation of the proximal colon and distal, and sometimes proximal, small intestine
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immune system
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• enterocolitis is seen in some symptomatic mice
• however, ganglionitis is not seen
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mortality/aging
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• males die between 12 and 21 weeks of age
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nervous system
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• mice show progressive loss of enteric neurons
• enteric neuron loss is predominantly of Nos1 expressing (inhibitory motor fibers) ganglion cell bodies that do not exhibit Atxn7-positive inclusions
• residual Nos1+ neurons have enlarged cell bodies and some of their axons are unusually thick and tortuous with abnormal varicosities
• calretinin-immunoreactive neurons in myenteric ganglia are reduced in density
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• reduction in thickness of tertiary branches of nerve fibers to the muscularis propria
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• enteric neuronal intranuclear inclusions in numerous myenteric and submucosal ganglion cells; inclusions are positive for Atxn7 and Sumo1
• about 50% of neurons in the distal ileum from 4 and 15 week old males contain inclusions
• loss of ganglion cells with Atxn7+ inclusions is not seen and the proportion of Atxn7+ inclusion-positive ChAT+ cells increases with age
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