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Symbol Name ID |
Prrt2
proline-rich transmembrane protein 2 MGI:1916267 |
| * | Aspects of the system are reported to show a normal phenotype. |
| Darker colors indicate more annotations |
| Human Phenotypes | Paroxysmal choreoathetosis |
Orofacial dyskinesia |
Paroxysmal dystonia |
Migraine |
Neurodevelopmental abnormality |
Seizure |
Bilateral tonic-clonic seizure |
Focal impaired awareness seizure |
Febrile seizure (within the age range of 3 months to 6 years) |
Infantile spasms |
| Disease(s) Associated with PRRT2 | ||||||||||
| benign familial infantile seizures 2 | ||||||||||
| episodic kinesigenic dyskinesia 1 |
| Mouse Phenotypes | nervous system phenotype |
increased susceptibility to pharmacologically induced seizures |
audiogenic seizures |
thin cerebral cortex |
abnormal synapse morphology |
abnormal excitatory synapse morphology |
abnormal inhibitory synapse morphology |
abnormal synaptic plasticity |
abnormal excitatory postsynaptic currents |
decreased excitatory postsynaptic current amplitude |
abnormal inhibitory postsynaptic currents |
abnormal miniature excitatory postsynaptic currents |
|
| Availability | Mouse Genotype | ||||||||||||
| Prrt2tm1a(KOMP)Wtsi/Prrt2tm1a(KOMP)Wtsi | * | ||||||||||||
| Prrt2tm1d(KOMP)Wtsi/Prrt2tm1d(KOMP)Wtsi | |||||||||||||
| Prrt2tm1d(KOMP)Wtsi/Prrt2+ | |||||||||||||
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 04/23/2024 MGI 6.23 |
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