Symbol Name ID |
Stub1
STIP1 homology and U-Box containing protein 1 MGI:1891731 |
Darker colors indicate more annotations |
Human Phenotypes | Ankle clonus |
Dysphagia |
Spasticity |
Cerebellar hypoplasia |
Cerebellar atrophy |
Ataxia |
Dysmetria |
Gait ataxia |
Limb ataxia |
Truncal ataxia |
Parkinsonism |
Chorea |
Tremor |
Babinski sign |
Dysarthria |
Depression |
Irritability |
Anxiety |
Cognitive impairment |
Mental deterioration |
Insomnia |
Hyperreflexia |
Dystonia |
Unsteady gait |
Bilateral tonic-clonic seizure |
Disease(s) Associated with STUB1 | |||||||||||||||||||||||||
autosomal recessive spinocerebellar ataxia 16 | |||||||||||||||||||||||||
cerebellar ataxia type 48 |
Mouse Phenotypes | abnormal cerebellum morphology |
Purkinje cell degeneration |
abnormal Purkinje cell dendrite morphology |
tau protein deposits |
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Availability | Mouse Genotype | ||||
Stub1tm1Atak/Stub1tm1Atak | |||||
Stub1tm1Cpat/Stub1tm1Cpat |
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 08/02/2024 MGI 6.24 |
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