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Symbol
Name
ID

Cacna1e
calcium channel, voltage-dependent, R type, alpha 1E subunit
MGI:106217

Phenotype annotations related to nervous system

Darker colors indicate more annotations

Human Phenotypes

Spastic tetraplegia

Cerebral cortical atrophy

Corpus callosum atrophy

Myoclonus

EEG abnormality

Hypsarrhythmia

Absent speech

Hyperreflexia

Dystonia

Inability to walk

Hyperkinetic movements

Epileptic encephalopathy

Developmental regression

Status epilepticus

Disease(s) Associated with CACNA1E

developmental and epileptic encephalopathy 69

Mouse Phenotypes		abnormal channel response	decreased channel response intensity	increased channel response threshold
Availability	Mouse Genotype	abnormal channel response	decreased channel response intensity	increased channel response threshold
	Cacna1e^tm1.1Beck/Cacna1e^tm1.1Beck
	Cacna1e^tm1Hssh/Cacna1e^tm1Hssh

Contributing Projects: 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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