atxn2 Phenotypes

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Phenotypes

Gene Literature (0)

Nucleotides (249)

Interactants (55)

XB-GENEPAGE-920189

Gene Symbol: atxn2 Gene Name: ataxin 2

Monarch Ortholog Phenotypes These phenotypes are associated with this gene with a has phenotype relation via Monarch.
Human (52 sources): Abnormal cell morphology, Abnormal cortical gyration, Abnormal substantia nigra morphology, Abnormality of the spinocerebellar tracts, Action tremor, Bradykinesia, Cerebellar Purkinje layer atrophy, Cerebral cortical atrophy, Cerebral white matter atrophy, Chorea, Dementia, Dilated fourth ventricle, Distal amyotrophy, Dysarthria, Dysdiadochokinesis, Dysmetria, Dysmetric saccades, Dysphagia, Dystonia, Eczematoid dermatitis, Fasciculations, Gait ataxia, Gaze-evoked nystagmus, Generalized hypotonia, Hyperactive deep tendon reflexes, Hyporeflexia, Hypotonia, Impaired horizontal smooth pursuit, Impaired vibratory sensation, Ischemic stroke, Kinetic tremor, Limb ataxia, Muscle spasm, Myoclonus, Nystagmus, Oculomotor apraxia, Olivopontocerebellar atrophy, Olivopontocerebellar hypoplasia, Ophthalmoparesis, Ophthalmoplegia, Parkinsonism, Postural instability, Postural tremor, Progressive cerebellar ataxia, Rigidity, Rod-cone dystrophy, Slow saccadic eye movements, Spasticity, Spinal cord posterior columns myelin loss, Spinocerebellar tract degeneration, Supranuclear ophthalmoplegia, Urinary bladder sphincter dysfunction [+]
Mouse (15 sources): abnormal Purkinje cell morphology, abnormal abdominal fat pad morphology, abnormal lipid level, behavior/neurological phenotype, decreased circulating glucose level, decreased litter size, enlarged seminal vesicle, increased gonadal fat pad weight, increased insulin secretion, increased pancreatic beta cell number, increased susceptibility to weight gain, nervous system phenotype, pancreatic islet hyperplasia, prenatal lethality, incomplete penetrance, reduced fertility [+]
View all ortholog results at Monarch