Symbol
Name
ID

Cacna1s
calcium channel, voltage-dependent, L type, alpha 1S subunit
MGI:88294

Phenotype annotations related to homeostasis/metabolism

Darker colors indicate more annotations

Human Phenotypes

Hyperkalemia

Hypokalemia

Episodic hypokalemia

Hyperphosphatemia

Elevated circulating creatine kinase concentration

Elevated creatine kinase after exercise

Mildly elevated creatine kinase

Postprandial hyperglycemia

Metabolic acidosis

Fever

Malignant hyperthermia

Increased intramyocellular lipid droplets

Myoglobinuria

Disease(s) Associated with CACNA1S

congenital myopathy 18

hypokalemic periodic paralysis

malignant hyperthermia

Mouse Phenotypes		decreased aerobic running capacity	decreased circulating glucose level	cyanosis	edema	extremity edema	abnormal calcium ion homeostasis	abnormal enzyme/coenzyme activity
Availability	Mouse Genotype	decreased aerobic running capacity	decreased circulating glucose level	cyanosis	edema	extremity edema	abnormal calcium ion homeostasis	abnormal enzyme/coenzyme activity
	Cacna1s^mdg/Cacna1s^mdg
	Cacna1s^{tm1.1(KOMP)Vlcg}/Cacna1s^{tm1.1(KOMP)Vlcg}
	Cacna1s^tm1.1Arte/Cacna1s^tm1.1Arte
	Cacna1s^{tm1.1(KOMP)Vlcg}/Cacna1s⁺

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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