Analysis Tools
mortality/aging
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• mutants begin to die around 3-4 weeks of age
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behavior/neurological
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• shortly after the appearance of the motor disorder, the forelimbs and hindlimbs display mild dystonia-like movements
(J:228781)
• mice rigidly extend their hindlimbs and often twist their limbs and bodies in hyperextended positions
(J:228781)
• when suspended by the tail, mutants often keep their hindlimbs stretched straight backward compared to wild-type mice which stretch their forelimbs to the floor and their hindlimbs almost perpendicular to the body
(J:228781)
• dystonic movements become progressively more uncontrolled until the mice are 3 weeks of age, when hindlimbs begin to show severe signs of muscle atrophy
(J:228781)
• at 3 weeks of age, the tail is often thin and fixed in a kinked posture and the paws are often twisted
(J:228781)
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• abnormalities in limb coordination and movement typically begin around P11 and progress rapidly
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• almost all mice show frequent dystonic postures at P21, with mice frequently flattened against the cage bottom with twisted forelimbs, rigidly extended hindlimbs, and scarcely lift their head and bodies up
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muscle
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• shortly after the appearance of the motor disorder, the forelimbs and hindlimbs display mild dystonia-like movements
(J:228781)
• mice rigidly extend their hindlimbs and often twist their limbs and bodies in hyperextended positions
(J:228781)
• when suspended by the tail, mutants often keep their hindlimbs stretched straight backward compared to wild-type mice which stretch their forelimbs to the floor and their hindlimbs almost perpendicular to the body
(J:228781)
• dystonic movements become progressively more uncontrolled until the mice are 3 weeks of age, when hindlimbs begin to show severe signs of muscle atrophy
(J:228781)
• at 3 weeks of age, the tail is often thin and fixed in a kinked posture and the paws are often twisted
(J:228781)
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nervous system
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• all mice show abnormal neurofilament accumulations in the brainstem
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• lower number of NeuN+ neurons in the motor trigeminal nucleus
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• neurofilament-positive neuron cell bodies are only seen in the brainstem, specifically in the gigantocellular reticular nucleus, spinal trigeminal nucleus, and vestibular nucleus of the pons, and in the gigantocellular reticular nucleus and areas including intermediate-, parvocellular- and dorsal paragigantocellular nuclei, and the spinal trigeminal nucleus of the medulla oblongata
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• thinner and irregularly shaped myelin is seen in almost all trigeminal axons in 5 week old mice
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• dorsal root ganglia is smaller in size at 2 weeks of age, with fewer neurons per dorsal root ganglia
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• neurofilament accumulation is seen in the cell bodies of large and medium-sized neurons in the spinal cord
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• mice exhibit postnatal sensory neurodegeneration
(J:228781)
• sensory neurodegeneration
(J:251779)
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• neurofilament positive spheroids are seen throughout the brain, including in the primary motor and sensory cortex, as well as in the higher-order- and associated-cortex, in the parafascicular nucleus of the thalamus, in the deeper layer of the superior colliculus, mecencephalic reticular nucleus, inferior colliculus, and parvo- and magno-cellular region of the red nucleus of the midbrain, in the gigantocellular reticular nucleus, spinal trigeminal nucleus, and vestibular nucleus of the pons, and in the gigantocellular reticular nucleus and areas including intermediate-, parvocellular- and dorsal paragigantocellular nuclie, and the spinal trigeminal nucleus of the medulla oblongata
• round, smaller diameter spheroids are mainly seen in layers III-VI of the cortex
• a small number of neurofilament positive spheroids are seen in other thalamic areas including the lateral dorsal thalamic nucleus, central lateral thalamic nucleus, ventral lateral thalamic nucleus, thalamic reticular nucleus, and zona incerta
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• myelin breakdown in the trigeminal nerve
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• decrease in neuronal activities in the cerebellar-thalamo-striatal circuit
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