Symbol Name ID |
Stxbp1
syntaxin binding protein 1 MGI:107363 |
* | Aspects of the system are reported to show a normal phenotype. |
Darker colors indicate more annotations |
Human Phenotypes | Spastic paraplegia |
Spastic tetraplegia |
Abnormality of the nervous system |
Cerebral hypomyelination |
Delayed CNS myelination |
Hypoplasia of the corpus callosum |
Cerebral atrophy |
Choreoathetosis |
Myoclonus |
Tremor |
EEG with burst suppression |
Hypsarrhythmia |
Absent speech |
Intellectual disability, profound |
Intellectual disability, severe |
Epileptic encephalopathy |
Infantile encephalopathy |
Developmental regression |
Severe global developmental delay |
Bilateral tonic-clonic seizure |
Generalized myoclonic seizure |
Generalized tonic seizure |
Epileptic spasm |
Infantile spasms |
Status epilepticus |
Disease(s) Associated with STXBP1 | |||||||||||||||||||||||||
developmental and epileptic encephalopathy 4 | |||||||||||||||||||||||||
West syndrome |
Mouse Phenotypes | nervous system phenotype |
decreased Purkinje cell number |
neuron degeneration |
neurodegeneration |
axon degeneration |
abnormal synaptic transmission |
abnormal neurotransmitter secretion |
|
Availability | Mouse Genotype | |||||||
Stxbp1tm1Sud/Stxbp1tm1Sud | * | |||||||
Stxbp1tm1Mver/Stxbp1tm1Mver Tg(Pcp2-cre)2Mpin/0 (conditional) |
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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