atxn1 Phenotypes

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Phenotypes

Gene Literature (0)

Nucleotides (122)

Interactants (491)

XB-GENEPAGE-982143

Gene Symbol: atxn1 Gene Name: ataxin 1

Monarch Ortholog Phenotypes These phenotypes are associated with this gene with a has phenotype relation via Monarch.
Human (66 sources): Abnormal brainstem morphology, Abnormal flash visual evoked potentials, Abnormality of extrapyramidal motor function, Abnormality of eye movement, Abnormality of masticatory muscle, Abnormality of peripheral nerve conduction, Abnormality of somatosensory evoked potentials, Areflexia, Atrophy/Degeneration affecting the brainstem, Babinski sign, Bradykinesia, Bulbar palsy, Bulbar signs, Cerebellar atrophy, Chorea, Cognitive impairment, Decreased amplitude of sensory action potentials, Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Dilated fourth ventricle, Distal amyotrophy, Dorsal column degeneration, Dysarthria, Dysdiadochokinesis, Dysmetria, Dysmetric saccades, Dysphagia, Dystonia, Fasciculations, Gait disturbance, Gait imbalance, Gaze-evoked nystagmus, Generalized hypotonia, Hyperactive deep tendon reflexes, Hypermetric saccades, Hyperreflexia, Hyporeflexia, Hypotonia, Impaired horizontal smooth pursuit, Impaired proprioception, Impaired vibratory sensation, Inertia, Limb ataxia, Loss of Purkinje cells in the cerebellar vermis, Memory impairment, Nystagmus, Olivopontocerebellar atrophy, Ophthalmoparesis, Optic atrophy, Optic disc pallor, Peripheral neuropathy, Postural tremor, Progressive cerebellar ataxia, Respiratory insufficiency, Scanning speech, Skeletal muscle atrophy, Slow saccadic eye movements, Slurred speech, Spasticity, Spinocerebellar atrophy, Spinocerebellar tract degeneration, Staring gaze, Supranuclear ophthalmoplegia, Truncal ataxia, Upgaze palsy, Urinary bladder sphincter dysfunction [+]
Mouse (17 sources): abnormal Purkinje cell dendrite morphology, abnormal associative learning, abnormal cued conditioning behavior, abnormal excitatory postsynaptic potential, abnormal spatial learning, abnormal spatial working memory, decreased Purkinje cell number, decreased brain weight, decreased exploration in new environment, decreased locomotor activity, decreased paired-pulse facilitation, limb grasping, muscle degeneration, neuronal intranuclear inclusions, premature death, reduced long term potentiation, slow postnatal weight gain [+]
View all ortholog results at Monarch