|
Symbol Name ID |
Sqstm1
sequestosome 1 MGI:107931 |
| Darker colors indicate more annotations |
| Human Phenotypes | Facial palsy |
Absent Achilles reflex |
Dysphagia |
Oculomotor apraxia |
Bulbar palsy |
Abnormal lower motor neuron morphology |
Amyotrophic lateral sclerosis |
Cerebral cortical atrophy |
Cerebellar atrophy |
Ataxia |
Dysdiadochokinesis |
Dysmetria |
Gait ataxia |
Limb ataxia |
Fasciculations |
Tremor |
Abnormal pyramidal sign |
Babinski sign |
Dysarthria |
Mutism |
Language impairment |
Apathy |
Personality changes |
Disinhibition |
Cognitive impairment |
Mental deterioration |
Frontotemporal dementia |
Hyperreflexia |
Hyporeflexia |
Dyskinesia |
Dystonia |
Gait disturbance |
Steppage gait |
| Disease(s) Associated with SQSTM1 | |||||||||||||||||||||||||||||||||
| distal myopathy with rimmed vacuoles | |||||||||||||||||||||||||||||||||
| frontotemporal dementia and/or amyotrophic lateral sclerosis 3 | |||||||||||||||||||||||||||||||||
| neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset |
| Mouse Phenotypes | increased neuron number |
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| Availability | Mouse Genotype | |
| Sqstm1tm1Keta/Sqstm1tm1Keta | ||
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 04/30/2024 MGI 6.23 |
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