Symbol Name ID |
Synj1
synaptojanin 1 MGI:1354961 |
Darker colors indicate more annotations |
Human Phenotypes | Eyelid apraxia |
Dysphagia |
Spastic tetraplegia |
Cerebral cortical atrophy |
Thin corpus callosum |
Bradykinesia |
Parkinsonism |
Involuntary movements |
Tremor |
Hypsarrhythmia |
Dysarthria |
Mental deterioration |
Progressive neurologic deterioration |
Intellectual disability, profound |
Dystonia |
Gait disturbance |
Shuffling gait |
Short stepped shuffling gait |
Postural instability |
Stooped posture |
Epileptic encephalopathy |
Global developmental delay |
Seizure |
Bilateral tonic-clonic seizure |
Convulsive status epilepticus |
Epileptic spasm |
Myoclonic seizure |
Tonic seizure |
Disease(s) Associated with SYNJ1 | ||||||||||||||||||||||||||||
developmental and epileptic encephalopathy 53 | ||||||||||||||||||||||||||||
Parkinson's disease 20 |
Mouse Phenotypes | convulsive seizures |
increased synaptic depression |
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Availability | Mouse Genotype | ||
Synj1tm1Pdc/Synj1tm1Pdc |
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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