behavior/neurological
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• females exhibit deficits in visuospatial memory in the hippocampus-dependent object placement test at 20-22 weeks of age, failing to display a preference for a relocated object
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• females exhibit motor coordination defects on the balance beam
• however, no females exhibit obvious ataxia at 32-34 weeks of age and females do not differ in track length, rears, or anxiety-like behavior
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homeostasis/metabolism
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• GM2 ganglioside accumulation in neurons of hippocampal CA3/CA4 regions and the amygdala
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nervous system
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• GM2 ganglioside accumulation in neurons of the amygdala
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• GM2 ganglioside accumulation in neurons of hippocampal CA3/CA4 regions
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• GM2 ganglioside accumulation in neurons of hippocampal CA3/CA4 regions
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• progressive cerebellar Purkinje cell degeneration that is already seen in 4 week old mice
• 32 week old females show a lower extent of Purkinje cell degeneration than males
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• 5 month old mice exhibit decreased Purkinje cell density
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• females exhibit secondary gliosis in the molecular layer of lobules affected by Purkinje cell degeneration but to a lower degree than in males
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
Christianson syndrome | DOID:0060825 |
OMIM:300243 |
J:229166 |