| Monarch Ortholog Phenotypes
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Human (31 sources):
Areflexia,
Basal lamina onion bulb formation,
Decreased motor nerve conduction velocity,
Decreased number of large peripheral myelinated nerve fibers,
Decreased number of peripheral myelinated nerve fibers,
Difficulty walking,
Distal amyotrophy,
Distal muscle weakness,
Distal sensory impairment,
Foot dorsiflexor weakness,
Generalized hypotonia,
Hammertoe,
Hypertrophic nerve changes,
Hyporeflexia,
Hypotonia,
Increased CSF protein,
Kyphoscoliosis,
Limb muscle weakness,
Motor delay,
Nystagmus,
Onion bulb formation,
Peripheral demyelination,
Pes cavus,
Scoliosis,
Segmental peripheral demyelination/remyelination,
Sensory ataxia,
Skeletal muscle atrophy,
Split hand,
Steppage gait,
Ulnar claw,
Vocal cord paresis
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Mouse (14 sources):
abnormal Schwann cell morphology,
abnormal action potential,
abnormal internode morphology,
abnormal respiratory mechanics,
abnormal touch/ nociception,
absent Cajal-Retzius cell,
aphagia,
behavior/neurological phenotype,
decreased thermal nociceptive threshold,
hyporesponsive to tactile stimuli,
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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.