cacna1s Phenotypes

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Phenotypes

Gene Literature (8)

Nucleotides (130)

Interactants (61)

XB-GENEPAGE-5823873

Gene Symbol: cacna1s Gene Name: calcium channel, voltage-dependent, L type, alpha 1S subunit

Expression Phenotypes Gene expression phenotype annotations where the gene of interest has been disrupted (manipulated) or is the gene assayed (assayed). Computed annotations are derived from differential expression analysis from Xenbase processed GEO data with the criteria of a TPM >= 1, FDR <= 0.05 and an absolute LogFC >= 2.
Computed annotations: cacna1s assayed (5 sources)

Monarch Ortholog Phenotypes These phenotypes are associated with this gene with a has phenotype relation via Monarch.
Human (17 sources): Abnormal muscle fiber morphology, Adrenocortical adenoma, EMG abnormality, Episodic flaccid weakness, Episodic hypokalemia, Exercise-induced muscle fatigue, Fatigable weakness of respiratory muscles, Hypokalemia, Increased intramyocellular lipid droplets, Late-onset proximal muscle weakness, Mildly elevated creatine kinase, Muscle weakness, Myopathy, Paralysis, Periodic hypokalemic paresis, Postprandial hyperglycemia, Respiratory paralysis [+]
Mouse (53 sources): abnormal Z line morphology, abnormal calcium ion homeostasis, abnormal cervical vertebrae morphology, abnormal diaphragm morphology, abnormal dorsal root ganglion morphology, abnormal embryo size, abnormal fetal size, abnormal innervation pattern to muscle, abnormal mandible morphology, abnormal mitochondrial physiology, abnormal muscle contractility, abnormal muscle development, abnormal muscle electrophysiology, abnormal muscle fiber morphology, abnormal phrenic nerve morphology, abnormal placenta vasculature, abnormal sarcomere morphology, abnormal skeletal muscle fiber type ratio, abnormal spinal cord ventral horn morphology, abnormal spine curvature, abnormal sternebra morphology, abnormal sternum morphology, abnormal thoracic cavity morphology, abnormal tongue muscle morphology, abnormal vertebral column morphology, absent deltoid tuberosity, absent skeletal muscle, decreased aerobic running capacity, decreased grip strength, decreased mitochondrial size, decreased skeletal muscle mass, dilated mitochondria, dilated sarcoplasmic reticulum, enlarged interparietal bone, enlarged occipital bone, extremity edema, impaired muscle contractility, impaired skeletal muscle contractility, increased brown adipose tissue amount, limb grasping, long ribs, muscle degeneration, muscle phenotype, no spontaneous movement, perinatal lethality, complete penetrance, preweaning lethality, complete penetrance, respiratory system phenotype, short mandible, small clavicle, small mandibular condyloid process, small mandibular coronoid process, sternebra fusion, thin diaphragm muscle [+]
View all ortholog results at Monarch