|
Symbol Name ID |
Synj1
synaptojanin 1 MGI:1354961 |
| Darker colors indicate more annotations |
| Human Phenotypes | Hyposmia |
Eyelid apraxia |
Dysphagia |
Spasticity |
Spastic tetraplegia |
Cerebral cortical atrophy |
Thin corpus callosum |
Bradykinesia |
Parkinsonism |
Involuntary movements |
Tremor |
Hypsarrhythmia |
Dysarthria |
Depression |
Anxiety |
Panic attack |
Hallucinations |
Apathy |
Reduced social reciprocity |
Impulsivity |
Agitation |
Restless legs |
Cognitive impairment |
Mental deterioration |
Dementia |
Frontal lobe dementia |
Progressive neurologic deterioration |
Short attention span |
Intellectual disability, profound |
Insomnia |
Hyperreflexia |
Dyskinesia |
Dystonia |
Gait disturbance |
Gait imbalance |
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 |
Abnormal autonomic nervous system physiology |
| Disease(s) Associated with SYNJ1 | ||||||||||||||||||||||||||||||||||||||||||||||||
| developmental and epileptic encephalopathy 53 | ||||||||||||||||||||||||||||||||||||||||||||||||
| Parkinson's disease | ||||||||||||||||||||||||||||||||||||||||||||||||
| Parkinson's disease 20 |
| Mouse Phenotypes | convulsive seizures |
increased synaptic depression |
|
| 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) |
||
|
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support. |
last database update 04/30/2024 MGI 6.23 |
|
|
|
||
Analysis Tools