cav3.1 Phenotypes

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Phenotypes

Gene Literature (34)

Nucleotides (41)

Interactants (144)

XB-GENEPAGE-962904

Gene Symbol: cav3.1 Gene Name: caveolin 3, gene 1

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: cav3.1 assayed (2 sources)

Monarch Ortholog Phenotypes These phenotypes are associated with this gene with a has phenotype relation via Monarch.
Human (57 sources): Abnormal T-wave, Abnormal autonomic nervous system physiology, Abnormal cardiac exercise stress test, Abnormal circulating creatine kinase concentration, Abnormal muscle fiber morphology, Abnormal muscle fiber protein expression, Abnormality of metabolism/homeostasis, Abnormality of prenatal development or birth, Abnormality of the ear, Abnormality of the musculature, Arrhythmia, Asymmetric septal hypertrophy, Calf muscle hypertrophy, Calf muscle hypoplasia, Calf muscle pseudohypertrophy, Cardiac arrest, Clumsiness, Congestive heart failure, EMG abnormality, EMG: myopathic abnormalities, Elevated circulating creatine kinase concentration, Exercise-induced muscle cramps, Exercise-induced muscle stiffness, Exercise-induced myalgia, Fatigue, Hepatic fibrosis, Hypercholesterolemia, Hypokalemia, Increased muscle fatiguability, Increased variability in muscle fiber diameter, Inflammatory myopathy, Intrinsic hand muscle atrophy, Mitochondrial myopathy, Muscle hyperirritability, Muscle mounding, Muscle spasm, Muscular dystrophy, Myalgia, Myopathy, Neck muscle weakness, Palpitations, Percussion-induced rapid rolling muscle contractions, Pes cavus, Progressive distal muscle weakness, Progressive pes cavus, Prolonged QT interval, Prolonged QTc interval, Seizure, Sinus bradycardia, Skeletal muscle hypertrophy, Subvalvular aortic stenosis, Sudden cardiac death, Syncope, Torsade de pointes, Ventricular arrhythmia, Ventricular fibrillation, Weakness of the intrinsic hand muscles [+]
Mouse (31 sources): abnormal atrium myocardial trabeculae morphology, abnormal bone mineralization, abnormal heart echocardiography feature, abnormal muscle development, abnormal muscle fiber morphology, abnormal myocardial fiber morphology, abnormal nitric oxide homeostasis, abnormal prepulse inhibition, abnormal sarcolemma morphology, abnormal seminal vesicle morphology, absent caveolae, absent liver, cardiac fibrosis, cardiac hypertrophy, decreased body size, decreased heart left ventricle size, decreased ventricle muscle contractility, dilated heart left ventricle, enlarged myocardial fiber, hindlimb paralysis, increased heart weight, increased prepulse inhibition, increased variability of skeletal muscle fiber size, increased ventricle muscle contractility, muscle degeneration, muscle phenotype, myocardial fiber disarray, skeletal muscle fiber degeneration, skeletal muscle fiber necrosis, thick interventricular septum, thick ventricular wall [+]
View all ortholog results at Monarch