| Monarch Ortholog Phenotypes
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Human (17 sources):
Areflexia,
Areflexia of lower limbs,
Decreased amplitude of sensory action potentials,
Decreased number of large peripheral myelinated nerve fibers,
Distal amyotrophy,
Distal lower limb muscle weakness,
Distal muscle weakness,
Distal sensory impairment,
EMG: chronic denervation signs,
EMG: neuropathic changes,
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Mouse (26 sources):
abnormal Z line morphology,
abnormal action potential,
abnormal cellular respiration,
abnormal muscle fiber morphology,
abnormal myocardium layer morphology,
abnormal oxidative phosphorylation,
abnormal sciatic nerve morphology,
abnormal skeletal muscle morphology,
amyloid beta deposits,
behavior/neurological phenotype,
cardiac fibrosis,
cardiac hypertrophy,
decreased cardiac muscle contractility,
decreased circulating interleukin-6 level,
decreased grip strength,
decreased ventricle muscle contractility,
impaired autophagy,
increased heart left ventricle size,
increased left ventricle diastolic pressure,
increased lung weight,
increased sensitivity to induced morbidity/mortality,
muscular atrophy,
nervous system phenotype,
preweaning lethality, incomplete penetrance,
skeletal muscle fiber degeneration,
thick interventricular septum
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View all ortholog results at Monarch
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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.