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Symbol
Name
ID

Stxbp1
syntaxin binding protein 1
MGI:107363

Phenotype annotations related to nervous system

*	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	nervous system phenotype	decreased Purkinje cell number	neuron degeneration	neurodegeneration	axon degeneration	abnormal synaptic transmission	abnormal neurotransmitter secretion
	Stxbp1^tm1Sud/Stxbp1^tm1Sud	*
	Stxbp1^tm1Mver/Stxbp1^tm1Mver Tg(Pcp2-cre)2Mpin/0 (conditional)

Contributing Projects: 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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