|
Symbol Name ID |
Cacnb4
calcium channel, voltage-dependent, beta 4 subunit MGI:103301 |
| * | Aspects of the system are reported to show a normal phenotype. |
| Darker colors indicate more annotations |
| Human Phenotypes | Ataxia |
Episodic ataxia |
Truncal ataxia |
Myoclonus |
Morning myoclonic jerks |
EEG with generalized spikes |
EEG with spike-wave complexes |
EEG with polyspike wave complexes |
Dysarthria |
Intellectual disability |
Postural instability |
Bilateral tonic-clonic seizure |
Bilateral tonic-clonic seizure on awakening |
Generalized non-motor (absence) seizure |
Atypical absence seizure |
Typical absence seizure |
Generalized tonic seizure |
Febrile seizure (within the age range of 3 months to 6 years) |
| Disease(s) Associated with CACNB4 | ||||||||||||||||||
| episodic ataxia type 5 | ||||||||||||||||||
| idiopathic generalized epilepsy 9 |
| Mouse Phenotypes | nervous system phenotype |
seizures |
convulsive seizures |
clonic seizures |
tonic seizures |
pituitary gland hyperplasia |
abnormal motor neuron morphology |
abnormal neuromuscular synapse morphology |
abnormal brain wave pattern |
abnormal nerve conduction |
decreased nerve conduction velocity |
abnormal CNS synaptic transmission |
|
| Availability | Mouse Genotype | ||||||||||||
| Cacnb4lh-2J/Cacnb4lh-2J | |||||||||||||
| Cacnb4lh/Cacnb4lh | * | ||||||||||||
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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