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Symbol
Name
ID
Cacna1g
calcium channel, voltage-dependent, T type, alpha 1G subunit
MGI:1201678
Phenotype annotations related to nervous system
Darker colors indicate more annotations
Human Phenotypes
Dysphagia
Spastic gait
Atrophy/Degeneration affecting the brainstem
Hyperintensity of cerebral white matter on MRI
Abnormal cerebellum morphology
Cerebellar vermis atrophy
Loss of Purkinje cells in the cerebellar vermis
Cerebellar atrophy
Alzheimer disease
Ataxia
Gait ataxia
Spastic ataxia
Tremor
Upper limb postural tremor
Resting tremor
Head tremor
Abnormal pyramidal sign
Babinski sign
Dysarthria
Depression
Cognitive impairment
Hyperreflexia
Unsteady gait
Eyelid myokymia
Reduced brain N-acetyl aspartate level by MRS
Neurodevelopmental abnormality
Impaired vibration sensation at ankles
Disease(s) Associated with CACNA1G
cerebellar ataxia type 42

Mouse Phenotypes
decreased susceptibility to pharmacologically induced seizures
abnormal spike wave discharge
abnormal cerebellar cortex morphology
Purkinje cell degeneration
thin cerebellar molecular layer
astrocytosis
neurodegeneration
abnormal nervous system physiology
abnormal action potential
impaired ability to fire action potentials
abnormal afterhyperpolarization
abnormal single cell response
abnormal neuron physiology
abnormal channel response
Availability Mouse Genotype
Cacna1gem1Ftan/Cacna1gem1Ftan
Cacna1gtm1.1Stl/Cacna1gtm1.1Stl
Cacna1gtm1.3Ksak/Cacna1gtm1.3Ksak
Cacna1gtm1Hssh/Cacna1gtm1Hssh
Cacna1gem1Ftan/Cacna1g+

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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last database update
04/30/2024
MGI 6.23
The Jackson Laboratory