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Symbol
Name
ID
Setx
senataxin
MGI:2443480
Phenotype annotations related to nervous system
Darker colors indicate more annotations
Human Phenotypes
Dysphagia
Oculomotor apraxia
Spastic paraplegia
Difficulty walking
Degeneration of anterior horn cells
Abnormal lower motor neuron morphology
Amyotrophic lateral sclerosis
Diffuse axonal swelling
Peripheral axonal degeneration
Axonal degeneration
Peripheral axonal neuropathy
Chronic axonal neuropathy
Pontocerebellar atrophy
Cerebellar vermis atrophy
Cerebellar atrophy
Pallor of dorsal columns of the spinal cord
Atrophy of the spinal cord
Ataxia
Gait ataxia
Progressive gait ataxia
Limb ataxia
Choreoathetosis
Chorea
Clonus
Tremor
Postural tremor
Head tremor
Abnormal pyramidal sign
Babinski sign
Decreased motor nerve conduction velocity
Decreased compound muscle action potential amplitude
Dysarthria
Hyperreflexia
Reduced tendon reflexes
Areflexia
Hyporeflexia
Dystonia
Gait disturbance
Gait imbalance
Muscle fibrillation
Polyneuropathy
Sensorimotor neuropathy
Somatic sensory dysfunction
Impaired distal tactile sensation
Impaired proprioception
Impaired distal vibration sensation
Disease(s) Associated with SETX
amyotrophic lateral sclerosis type 4
spinocerebellar ataxia with axonal neuropathy 2

Mouse Phenotypes
increased susceptibility to neuronal excitotoxicity
abnormal motor neuron morphology
motor neuron degeneration
abnormal neuromuscular synapse morphology
abnormal neuron physiology
Availability Mouse Genotype
Setxtm1.1Als/Setx+

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
05/21/2024
MGI 6.23
The Jackson Laboratory