Symbol Name ID |
Cacna1g
calcium channel, voltage-dependent, T type, alpha 1G subunit MGI:1201678 |
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 |
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Availability | Mouse Genotype | ||||||||||||||
Cacna1gem1Ftan/Cacna1gem1Ftan | |||||||||||||||
Cacna1gtm1.1Stl/Cacna1gtm1.1Stl | |||||||||||||||
Cacna1gtm1.3Ksak/Cacna1gtm1.3Ksak | |||||||||||||||
Cacna1gtm1Hssh/Cacna1gtm1Hssh | |||||||||||||||
Cacna1gem1Ftan/Cacna1g+ |
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 07/05/2024 MGI 6.24 |
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