|
Symbol Name ID |
Kcnq2
potassium voltage-gated channel, subfamily Q, member 2 MGI:1309503 |
| * | Aspects of the system are reported to show a normal phenotype. |
| Darker colors indicate more annotations |
| Human Phenotypes | Cerebral edema |
Spastic tetraparesis |
Abnormal globus pallidus morphology |
Abnormal cerebral white matter morphology |
Hypoplasia of the corpus callosum |
Cerebral atrophy |
Poor gross motor coordination |
EEG with burst suppression |
Hypsarrhythmia |
Intellectual disability |
Dystonia |
Inability to walk |
Myokymia |
Epileptic encephalopathy |
Global developmental delay |
Profound global developmental delay |
Motor delay |
Seizure |
Bilateral tonic-clonic seizure |
Focal clonic seizure |
Generalized tonic seizure |
Febrile seizure (within the age range of 3 months to 6 years) |
Epileptic spasm |
| Disease(s) Associated with KCNQ2 | |||||||||||||||||||||||
| benign neonatal seizures | |||||||||||||||||||||||
| developmental and epileptic encephalopathy 7 |
| Mouse Phenotypes | nervous system phenotype |
increased susceptibility to pharmacologically induced seizures |
seizures |
abnormal seizure response to electrical stimulation |
clonic seizures |
tonic-clonic seizures |
increased corpus callosum size |
increased superior colliculus size |
abnormal hippocampus morphology |
abnormal primary motor cortex morphology |
abnormal somatosensory cortex morphology |
abnormal nervous system electrophysiology |
abnormal action potential |
abnormal afterhyperpolarization |
abnormal brain wave pattern |
abnormal neuron physiology |
decreased prepulse inhibition |
|
| Availability | Mouse Genotype | |||||||||||||||||
| Kcnq2Nmf134/Kcnq2Nmf134 | ||||||||||||||||||
| Kcnq2tm1.1Naas/Kcnq2tm1.1Naas | ||||||||||||||||||
| Kcnq2tm1Dgen/Kcnq2tm1Dgen | ||||||||||||||||||
| Kcnq2tm1Hsa/Kcnq2tm1Hsa | * | |||||||||||||||||
| Kcnq2tm2.1Snhr/Kcnq2tm2.1Snhr | ||||||||||||||||||
| Kcnq2Nmf134/Kcnq2+ | * | |||||||||||||||||
| Kcnq2tm1.1Lvi/Kcnq2+ | ||||||||||||||||||
| Kcnq2tm1.1Naas/Kcnq2+ | ||||||||||||||||||
| Kcnq2tm1Dgen/Kcnq2+ | ||||||||||||||||||
| Kcnq2tm1Hsa/Kcnq2+ | ||||||||||||||||||
| Kcnq2tm2.1Snhr/Kcnq2+ | ||||||||||||||||||
| Kcnq2tm3.1Snhr/Kcnq2+ | ||||||||||||||||||
| Emx1tm1(cre)Krj/? Kcnq2tm1.1Avtz/Kcnq2tm1.1Avtz (conditional) |
||||||||||||||||||
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
||
|
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support. |
last database update 04/30/2024 MGI 6.23 |
|
|
|
||
Analysis Tools