Symbol
Name
ID

Cacna2d1
calcium channel, voltage-dependent, alpha2/delta subunit 1
MGI:88295

Phenotype annotations related to nervous system

Darker colors indicate more annotations

Human Phenotypes

Microcephaly

Spasticity

Hypoplasia of the corpus callosum

Chorea

Continuous spike and waves during slow sleep

Absent speech

Bruxism

Intellectual disability, profound

Obstructive sleep apnea

Orofacial dyskinesia

Profound global developmental delay

Focal impaired awareness hemiclonic seizure

Generalized non-motor (absence) seizure

Pain insensitivity

Disease(s) Associated with CACNA2D1

developmental and epileptic encephalopathy 110

Mouse Phenotypes		abnormal CNS synaptic transmission	decreased prepulse inhibition	decreased channel response intensity	increased channel response threshold
Availability	Mouse Genotype	abnormal CNS synaptic transmission	decreased prepulse inhibition	decreased channel response intensity	increased channel response threshold
	Cacna2d1^em1(IMPC)Mbp/Cacna2d1^em1(IMPC)Mbp
	Cacna2d1^tm1Aschw/Cacna2d1^tm1Aschw
	Cacna2d1^tm1Cptl/Cacna2d1^tm1Cptl

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)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 04/16/2024 MGI 6.23