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Symbol
Name
ID

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

Phenotype annotations related to muscle

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

Human Phenotypes

Abnormality of masseter muscle

Increased intramyocellular lipid droplets

Hypotonia

EMG abnormality

Exercise-induced muscle fatigue

Intermittent painful muscle spasms

Muscle stiffness

Muscle weakness

Axial muscle weakness

Fatigable weakness of respiratory muscles

Episodic flaccid weakness

Late-onset proximal muscle weakness

Respiratory paralysis

Myotonia

Abnormal muscle fiber morphology

Increased variability in muscle fiber diameter

Centrally nucleated skeletal muscle fibers

Increased endomysial connective tissue

Fatty replacement of skeletal muscle

Myopathy

Necrotizing myopathy

Acute rhabdomyolysis

Exercise-induced rhabdomyolysis

Disease(s) Associated with CACNA1S

congenital myopathy 18

hypokalemic periodic paralysis

malignant hyperthermia

Mouse Phenotypes

muscle phenotype

abnormal skeletal muscle fiber mitochondrial morphology

abnormal tongue muscle morphology

abnormal muscle morphology

abnormal muscle development

abnormal muscle fiber morphology

abnormal sarcomere morphology

abnormal Z line morphology

dilated sarcoplasmic reticulum

abnormal skeletal muscle fiber morphology

centrally nucleated skeletal muscle fibers

abnormal diaphragm morphology

thin diaphragm muscle

abnormal skeletal muscle fiber type ratio

decreased skeletal muscle mass

absent skeletal muscle

muscle degeneration

abnormal muscle physiology

abnormal muscle contractility

impaired muscle contractility

impaired skeletal muscle contractility

abnormal muscle electrophysiology

myopathy

Availability

Mouse Genotype

Cacna1s^mdg/Cacna1s^mdg

Cacna1s^tm1.1Arte/Cacna1s^tm1.1Arte

*

Cacna1s^tm1.1Cann/Cacna1s^tm1.1Cann

Cacna1s^tm1.1Cann/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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