Analysis Tools
mortality/aging
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• the stress of supplemental feeding by oral gavage results in death in mutants which is not seen in controls
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• about 50% of mice die by the third postnatal week; mice surviving past 3 weeks show normal lifespan
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growth/size/body
weight loss
(
J:247570
)
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• mice develop weight loss by 2 weeks of age, however, mice that survive past the third week show near normal adult weights
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behavior/neurological
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• mild stresses such as handling or being placed in a novel environment exacerbates motor coordination defects
• motor performance is impaired in situations which are novel, with mice having less activity in the novel open field test, performing worse on the first day of accelerating rotarod but normal performance on subsequent days, and more mice unable to perform the task in a novel environment of a motorized treadmill
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• mice exhibit freezing
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• poor performance is sometimes accompanied by dystonic-like abnormal tail postures and slower uncoordinated hindlimb movements
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• mice show impaired motor coordination by 2 weeks of age, with mice most phenotypically affected in the P14-P21 period
• in the wire hang task, mice perform more poorly than controls, indicating difficulties in coordinated movement as grip strength is normal
• in the accelerating rotarod, adults perform worse than controls only on the initial day of training and mice improve upon repeated daily testing indicating that motor learning and ability to ambulate are intact
• in a novel environment of a motorized treadmill, a higher proportion of mice are unable to perform the task at treadmill speeds that are tolerated by wild-type mice
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trunk curl
(
J:247570
)
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• poor performance is sometimes accompanied by trunk hunching
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• mice exhibit abnormal ambulation
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• surviving adults placed in a novel, but standard open field arena, exhibit lower activity than wild-type mice, with this difference lessening over time with the new environment
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muscle
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• poor performance is sometimes accompanied by dystonic-like abnormal tail postures and slower uncoordinated hindlimb movements
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nervous system
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• brain volume is 10% smaller at a time when body weight is normal
• lower brain volume is seen in the anterior olfactory nuclei, interstitial nucleus of Cajal, red nucleus, superior colliculus, tegmentum, median raphe nuclei, inferior colliculus, pons, reticular medullary nuclei, cerebellum, commissure of the superior colliculus, and the decussation of the superior cerebellar peduncles
• fractional anisotrophy is increased in areas of corpus callosum, pontine structures, medial lemniscus, medial longitudinal fasciculus, hippocampus, border of visual cortex near corpus callosum, inferior colliculus, and medial lateral orbital cortices
• fractional anisotrophy is decreased for corpus callosum in areas below the cingulate cortex, motor cortices, parietal association cortex and S1, deep cerebellar white matter, brachium of superior colliculus, inferior cerebellar peduncles and medial amygdaloid nucleus
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• reduction in volume for white matter tracts including a 8.94% reduction in the superior and 10.1% reduction in the middle cerebellar peduncles
• fractional anisotrophy is reduced in some white matter tracts and enhanced in other white matter tracts
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• reduction in volume for gray matter structures like a 13.5% reduction of the deep mesencephalic, an 11% reduction of the pontine, and 8.73% reduction of the raphe nuclei
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• mice show reduced long-term depression (LTD) of corticostriatal synapses, indicating impairments in corticostriatal plasticity
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| focal dystonia | DOID:0050836 | J:247570 | ||
