atxn3 Phenotypes

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Phenotypes

Gene Literature (2)

Nucleotides (236)

Interactants (516)

XB-GENEPAGE-971500

Gene Symbol: atxn3 Gene Name: ataxin 3

Monarch Ortholog Phenotypes These phenotypes are associated with this gene with a has phenotype relation via Monarch.
Human (61 sources): Abnormal autonomic nervous system physiology, Abnormal electrooculogram, Abnormal lower motor neuron morphology, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Abnormality of temperature regulation, Absent Achilles reflex, Ataxia, Babinski sign, Bradykinesia, Cerebellar atrophy, Chronic pain, Clumsiness, Degeneration of anterior horn cells, Degeneration of the striatum, Delayed speech and language development, Dementia, Dilated fourth ventricle, Diplopia, Distal amyotrophy, Distal lower limb amyotrophy, Distal muscle weakness, Dysarthria, Dysmetric saccades, Dysphagia, Dystonia, EMG abnormality, External ophthalmoplegia, Facial-lingual fasciculations, Fasciculations, Gaze-evoked nystagmus, Gliosis, Hyperreflexia, Impaired horizontal smooth pursuit, Impaired vibratory sensation, Limb ataxia, Memory impairment, Muscle spasm, Neurogenic bladder, Nystagmus, Parkinsonism, Peripheral axonal neuropathy, Peripheral neuropathy, Postural instability, Progressive cerebellar ataxia, Progressive external ophthalmoplegia, Progressive gait ataxia, Proptosis, Ptosis, Rigidity, Skeletal muscle atrophy, Sleep disturbance, Spasticity, Spinocerebellar tract degeneration, Substantia nigra gliosis, Supranuclear ophthalmoplegia, Truncal ataxia, Upper motor neuron dysfunction, Urinary bladder sphincter dysfunction, Vestibular dysfunction, Vocal cord paralysis [+]
Mouse (10 sources): abnormal circulating aspartate transaminase level, behavior/neurological phenotype, decreased circulating fructosamine level, decreased circulating iron level, decreased exploration in new environment, decreased vertical activity, increased anti-nuclear antigen antibody level, increased circulating aspartate transaminase level, neuronal cytoplasmic inclusions, neuronal intranuclear inclusions
View all ortholog results at Monarch