cav1 Phenotypes

Summary

Expression

Phenotypes

XB-GENEPAGE-490007

Gene Symbol: cav1 Gene Name: caveolin 1

Anatomical Phenotypes Phenotypes manually curated with terms from the Xenopus phenotype ontology covering anatomical, gene ontology, and neurobehavioral phenotypes.
abnormal actin filament morphology (4 sources), abnormal muscle morphology (4 sources), abnormal motor neuron morphology (3 sources), abnormal swimming behavior (3 sources), abnormal filopodium morphology (2 sources), abnormal head morphology (2 sources), abnormal spinal neuron morphology (2 sources), abnormally decreased number of spinal neuron (2 sources), decreased length of anterior-posterior axis (2 sources), edematous pharyngeal region (2 sources), abnormal sarcomere morphology (1 source)

Anatomical Phenotypes

Phenotypes manually curated with terms from the Xenopus phenotype ontology covering anatomical, gene ontology, and neurobehavioral phenotypes.

abnormal actin filament morphology (4 sources), abnormal muscle morphology (4 sources), abnormal motor neuron morphology (3 sources), abnormal swimming behavior (3 sources), abnormal filopodium morphology (2 sources), abnormal head morphology (2 sources), abnormal spinal neuron morphology (2 sources), abnormally decreased number of spinal neuron (2 sources), decreased length of anterior-posterior axis (2 sources), edematous pharyngeal region (2 sources), abnormal sarcomere morphology (1 source)

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: cav1 assayed (10 sources)

Experiments (Reagents) These are short form descriptions of experiments using reagents targeting the gene of interest.
Xla Wt + cav1 MO (6 sources), Xla Wt + cav1 MO (4 sources), Xla Wt + cav1 MO (2 sources), Xla Wt + cav1 MO + neural tube explant (1 source), Xla Wt + cav1 MO + neural tube explant (1 source)

Monarch Ortholog Phenotypes These phenotypes are associated with this gene with a has phenotype relation via Monarch.
Human (98 sources): Abnormal circulating creatine kinase concentration, Abnormal foot morphology, Abnormal hair morphology, Abnormal oral cavity morphology, Abnormality of skeletal muscle fiber size, Abnormality of skin pigmentation, Abnormality of the face, Absence of subcutaneous fat, Acanthosis nigricans, Accelerated skeletal maturation, Arrhythmia, Arterial stenosis, Atherosclerosis, Atlantoaxial dislocation, Atrial fibrillation, Babinski sign, Bone cyst, Bradycardia, Broad foot, Cirrhosis, Clonus, Congestive heart failure, Decreased adipose tissue around neck, Decreased circulating IgA level, Decreased response to growth hormone stimulation test, Delayed skeletal maturation, Developmental cataract, Diabetes mellitus, Distal sensory impairment, Dysmenorrhea, Dysmetria, Dyspnea, Elevated circulating growth hormone concentration, Elevated hepatic transaminase, Elevated pulmonary artery pressure, Exercise-induced myalgia, Failure to thrive, Flexion contracture, Gait ataxia, Generalized hirsutism, Glomerulopathy, Glucose intolerance, Hepatic failure, Hepatic steatosis, Hepatomegaly, Hirsutism, Hypercholesterolemia, Hyperhidrosis, Hyperinsulinemia, Hyperlordosis, Hyperreflexia, Hypertriglyceridemia, Hypertrophic cardiomyopathy, Immunodeficiency, Impaired glucose tolerance, Increased pulmonary vascular resistance, Insulin resistance, Intellectual disability, Lack of facial subcutaneous fat, Large hands, Lipoatrophy, Lipodystrophy, Loss of subcutaneous adipose tissue in limbs, Lower limb muscle weakness, Mandibular prognathia, Muscle stiffness, Muscle weakness, Myalgia, Myocardial infarction, Myopathy, Nephropathy, Nystagmus, Oligomenorrhea, Orthostatic hypotension, Osteopenia, Osteoporosis, Palpitations, Pancreatitis, Peripheral neuropathy, Pigmentary retinopathy, Polycystic ovaries, Precocious puberty, Progressive proximal muscle weakness, Prolonged QTc interval, Prominent supraorbital ridges, Pulmonary arterial hypertension, Pyloric stenosis, Recurrent fractures, Recurrent infections, Renal insufficiency, Scoliosis, Secondary amenorrhea, Skeletal muscle hypertrophy, Spinal rigidity, Splenomegaly, Thickened skin, Ventricular hypertrophy, Ventriculomegaly [+]
Mouse (158 sources): abnormal CNS glial cell morphology, abnormal actin cytoskeleton morphology, abnormal adipose tissue physiology, abnormal astrocyte morphology, abnormal blood homeostasis, abnormal bone mineralization, abnormal brain internal capsule morphology, abnormal brain vasculature morphology, abnormal brown fat cell morphology, abnormal cell cytoskeleton morphology, abnormal cell morphology, abnormal cellular respiration, abnormal chondrocyte physiology, abnormal circulating free fatty acids level, abnormal costochondral joint morphology, abnormal cytokine level, abnormal dendrite morphology, abnormal dentate gyrus morphology, abnormal fat cell morphology, abnormal fibroblast chemotaxis, abnormal free fatty acids level, abnormal gonadal fat pad morphology, abnormal hippocampus CA1 region morphology, abnormal hyaline cartilage morphology, abnormal involuntary movement, abnormal lactation, abnormal lipid homeostasis, abnormal lipid level, abnormal locomotor behavior, abnormal long bone epiphyseal plate morphology, abnormal long bone epiphyseal plate proliferative zone, abnormal long bone hypertrophic chondrocyte zone, abnormal long bone metaphysis morphology, abnormal lung vasculature morphology, abnormal macrophage physiology, abnormal mammary fat pad morphology, abnormal mammary gland duct morphology, abnormal mammary gland epithelium morphology, abnormal mammary gland growth during pregnancy, abnormal mammary gland morphology, abnormal microtubule organizing center morphology, abnormal myocardium layer morphology, abnormal nitric oxide homeostasis, abnormal osteoclast morphology, abnormal pulmonary alveolar parenchyma morphology, abnormal pulmonary elastic fiber morphology, abnormal pulmonary endothelial cell surface, abnormal renal calcium reabsorption, abnormal respiratory electron transport chain, abnormal respiratory mechanics, abnormal respiratory quotient, abnormal skeletal muscle morphology, abnormal thyroid follicular cell morphology, abnormal triglyceride level, abnormal type II pneumocyte morphology, abnormal uterus physiology, abnormal vascular endothelial cell morphology, abnormal vascular wound healing, abnormal vasoconstriction, abnormal vasodilation, abnormal vesicle-mediated transport, absent caveolae, amyloid beta deposits, brain ischemia, cardiac fibrosis, cardiac hypertrophy, cellular phenotype, decreased CNS synapse formation, decreased brain size, decreased brain weight, decreased cardiac muscle contractility, decreased circulating adiponectin level, decreased circulating glucose level, decreased circulating glycerol level, decreased core body temperature, decreased exploration in new environment, decreased fatty acids level, decreased fibroblast chemotaxis, decreased grip strength, decreased hepatocyte proliferation, decreased liver glycogen level, decreased liver triglyceride level, decreased locomotor activity, decreased lung compliance, decreased susceptibility to diet-induced obesity, decreased susceptibility to endotoxin shock, decreased susceptibility to hepatic steatosis, decreased vasoconstriction, decreased ventricle muscle contractility, decreased white adipose tissue amount, decreased white fat cell lipid droplet size, dilated heart left ventricle, enhanced gluconeogenesis, enhanced lipolysis, enlarged endometrial glands, epidermal hyperplasia, hippocampal neuron degeneration, homeostasis/metabolism phenotype, impaired adaptive thermogenesis, impaired exercise endurance, impaired lipolysis, impaired liver regeneration, impaired neutrophil recruitment, impaired wound healing, increased airway resistance, increased bone strength, increased bone trabecula number, increased brown adipose tissue amount, increased brown fat cell lipid droplet size, increased cerebral infarct size, increased circulating CXCL10 level, increased circulating VLDL triglyceride level, increased circulating alanine transaminase level, increased circulating interferon-gamma level, increased circulating interleukin-6 level, increased circulating tumor necrosis factor level, increased compact bone area, increased endometrial gland number, increased food intake, increased incidence of tumors by chemical induction, increased kidney weight, increased liver weight, increased long bone epiphyseal plate size, increased lung elastance, increased lung endothelial cell proliferation, increased mammary gland tumor incidence, increased mean corpuscular hemoglobin, increased oxygen consumption, increased respiratory quotient, increased sensitivity to induced morbidity/mortality, increased susceptibility to bacterial infection induced morbidity/mortality, increased systemic arterial blood pressure, increased trabecular bone thickness, increased triglyceride level, increased vascular permeability, increased vasodilation, limb grasping, liver/biliary system phenotype, mammary gland duct hyperplasia, mammary gland hyperplasia, myocardial fiber disarray, premature bone ossification, premature death, pulmonary hyperemia, pulmonary interstitial fibrosis, reduced fertility, renal/urinary system phenotype, reproductive system phenotype, short stride length, slow postnatal weight gain, tau protein deposits, thick interventricular septum, thick pulmonary interalveolar septum, thick ventricular wall, thin interventricular septum, thin ventricular wall, urolithiasis, uterus cyst [+]
View all ortholog results at Monarch