Symbol
Name
ID

Cacng2
calcium channel, voltage-dependent, gamma subunit 2
MGI:1316660

Phenotype annotations related to nervous system

*	Aspects of the system are reported to show a normal phenotype.
	Darker colors indicate more annotations

Human Phenotypes	Intellectual disability, moderate	Brain imaging abnormality	Seizure
Disease(s) Associated with CACNG2
autosomal dominant intellectual developmental disorder 10

Mouse Phenotypes

nervous system phenotype

absence seizures

abnormal neuron differentiation

abnormal vestibular hair cell morphology

abnormal type I vestibular cell

abnormal thalamus morphology

abnormal hippocampal mossy fiber morphology

loss of hippocampal neurons

abnormal innervation

abnormal Purkinje cell innervation

abnormal CNS synapse formation

decreased CNS synapse formation

abnormal motor neuron morphology

abnormal synapse morphology

abnormal neuromuscular synapse morphology

abnormal synaptic vesicle morphology

abnormal synaptic vesicle number

abnormal brain wave pattern

abnormal CNS synaptic transmission

decreased excitatory postsynaptic current amplitude

abnormal AMPA-mediated synaptic currents

absence of AMPA-mediated synaptic currents

reduced AMPA-mediated synaptic currents

abnormal miniature excitatory postsynaptic currents

decreased miniature excitatory postsynaptic current amplitude

increased miniature excitatory postsynaptic current amplitude

decreased miniature excitatory postsynaptic current frequency

Availability

Mouse Genotype

Cacng2^em1Tern/Cacng2^em1Tern

Cacng2^stg-3J/Cacng2^stg-3J

Cacng2^stg-wag/Cacng2^stg-wag

Cacng2^stg/Cacng2^stg

Cacng2^tm1.1Mwa/Cacng2^tm1.1Mwa

Cacng2^tm1.1Suto/Cacng2^tm1.1Suto

Cacng2^tm2.1Suto/Cacng2^tm2.1Suto

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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