Symbol Name ID |
Gabbr2
gamma-aminobutyric acid type B receptor subunit 2 MGI:2386030 |
Darker colors indicate more annotations |
Human Phenotypes | Drooling |
Ventriculomegaly |
Ataxia |
Multifocal epileptiform discharges |
Hypsarrhythmia |
Absent speech |
Self-injurious behavior |
Intellectual disability |
Sleep abnormality |
Inability to walk |
Epileptic encephalopathy |
Bilateral tonic-clonic seizure |
Focal impaired awareness seizure |
Focal clonic seizure |
Infantile spasms |
Tonic seizure |
Disease(s) Associated with GABBR2 | ||||||||||||||||
developmental and epileptic encephalopathy 59 |
Mouse Phenotypes | seizures |
clonic seizures |
tonic-clonic seizures |
abnormal hippocampus CA1 region morphology |
abnormal synapse morphology |
abnormal hippocampus physiology |
abnormal nervous system electrophysiology |
abnormal brain wave pattern |
abnormal synaptic plasticity |
abnormal synaptic transmission |
abnormal excitatory postsynaptic currents |
abnormal inhibitory postsynaptic currents |
abnormal inhibitory postsynaptic potential |
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Availability | Mouse Genotype | |||||||||||||
Gabbr2tm1.1Stmo/Gabbr2tm1.1Stmo | ||||||||||||||
Gabbr2tm1Arca/Gabbr2tm1Arca | ||||||||||||||
Gabbr2tm1Bet/Gabbr2tm1Bet |
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 04/30/2024 MGI 6.23 |
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