Symbol Name ID |
Syt2
synaptotagmin II MGI:99666 |
Darker colors indicate more annotations |
Human Phenotypes | Frontalis muscle weakness |
Dysphagia |
Difficulty walking |
Easy fatigability |
Bulbar palsy |
Fatigable weakness |
Ataxia |
EEG with polyspike wave complexes |
Compound muscle action potential amplitude facilitation |
Decreased compound muscle action potential amplitude |
Choking episodes |
Intellectual disability |
Central sleep apnea |
Obstructive sleep apnea |
Areflexia |
Hyporeflexia |
Tip-toe gait |
Waddling gait |
Motor delay |
Motor polyneuropathy |
Seizure |
Distal sensory impairment |
Disease(s) Associated with SYT2 | ||||||||||||||||||||||
congenital myasthenic syndrome | ||||||||||||||||||||||
congenital myasthenic syndrome 7 |
Mouse Phenotypes | abnormal CNS synaptic transmission |
abnormal excitatory postsynaptic currents |
prolonged excitatory postsynaptic current rise time |
abnormal inhibitory postsynaptic currents |
abnormal miniature excitatory postsynaptic currents |
abnormal miniature endplate potential |
abnormal neurotransmitter secretion |
decreased neurotransmitter release |
enhanced paired-pulse facilitation |
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Availability | Mouse Genotype | |||||||||
Syt2m1Ingm/Syt2m1Ingm | ||||||||||
Syt2tm1Sud/Syt2tm1Sud |
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 04/16/2024 MGI 6.23 |
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