Symbol Name ID |
Cacna1s
calcium channel, voltage-dependent, L type, alpha 1S subunit MGI:88294 |
* | 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 | |||||||||||||||||||||||
Cacna1smdg/Cacna1smdg | ||||||||||||||||||||||||
Cacna1stm1.1Arte/Cacna1stm1.1Arte | * | |||||||||||||||||||||||
Cacna1stm1.1Cann/Cacna1stm1.1Cann | ||||||||||||||||||||||||
Cacna1stm1.1Cann/Cacna1s+ |
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 |
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