Monarch Ortholog Phenotypes
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Human (44 sources):
Abnormal circulating creatine kinase concentration,
Areflexia,
Cardiomyopathy,
Cholecystitis,
Chronic pancreatitis,
Congestive heart failure,
Delayed ability to walk,
Diabetes mellitus,
Difficulty running,
Difficulty walking,
Easy fatigability,
Elevated circulating creatine kinase concentration,
Elevated circulating hepatic transaminase concentration,
Exercise intolerance,
Fasciculations,
Fatty replacement of skeletal muscle,
Foot dorsiflexor weakness,
Generalized hypotonia,
Generalized limb muscle atrophy,
Gowers sign,
Hand muscle weakness,
Hepatic steatosis,
Hepatomegaly,
Hypertriglyceridemia,
Hypotonia,
Increased circulating lactate dehydrogenase concentration,
Increased intramyocellular lipid droplets,
Increased muscle lipid content,
Intellectual disability, mild,
Motor delay,
Myalgia,
Myopathy,
Neck muscle weakness,
Pelvic girdle muscle weakness,
Pineal cyst,
Progressive distal muscle weakness,
Progressive proximal muscle weakness,
Proximal muscle weakness,
Reduced left ventricular ejection fraction,
Rimmed vacuoles,
Sensorineural hearing impairment,
Short stature,
Shoulder girdle muscle weakness,
Very long chain fatty acid accumulation
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Mouse (59 sources):
abnormal adipose tissue physiology,
abnormal brown adipose tissue morphology,
abnormal cardiomyocyte apoptosis,
abnormal cholangiocyte morphology,
abnormal gas homeostasis,
abnormal hepatocyte morphology,
abnormal lipid homeostasis,
abnormal lipid level,
abnormal myocardial fiber morphology,
abnormal myocardial fiber physiology,
abnormal myocardium layer morphology,
abnormal oxygen consumption,
abnormal respiratory quotient,
abnormal white adipose tissue morphology,
cardiac edema,
cardiac fibrosis,
cardiac hypertrophy,
cardiovascular system phenotype,
decreased adipocyte glucose uptake,
decreased basal metabolism,
decreased circulating VLDL triglyceride level,
decreased circulating free fatty acids level,
decreased circulating glucose level,
decreased fatty acid oxidation,
decreased oxygen consumption,
decreased triglyceride level,
decreased ventricle muscle contractility,
dilated heart left ventricle,
impaired adaptive thermogenesis,
impaired lipolysis,
improved glucose tolerance,
increased body mass index,
increased brown adipose tissue amount,
increased brown fat cell size,
increased cardiac muscle glycogen level,
increased circulating alanine transaminase level,
increased fatty acids level,
increased gonadal fat pad weight,
increased heart weight,
increased inguinal fat pad weight,
increased insulin sensitivity,
increased interscapular fat pad weight,
increased left ventricle weight,
increased liver triglyceride level,
increased liver weight,
increased renal fat pad weight,
increased respiratory quotient,
increased susceptibility to diet-induced obesity,
increased susceptibility to weight gain,
increased total fat pad weight,
increased triglyceride level,
increased white adipose tissue amount,
increased white fat cell size,
integument phenotype,
macrovesicular hepatic steatosis,
microvesicular hepatic steatosis,
premature death,
pulmonary vascular congestion,
thick interventricular septum
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View all ortholog results at Monarch
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