| Monarch Ortholog Phenotypes
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Human (25 sources):
Ataxia,
Cerebellar atrophy,
Cerebellar hypoplasia,
Diplopia,
Dysarthria,
Episodic ataxia,
Gaze-evoked nystagmus,
Generalized hypotonia,
Headache,
Hemiparesis,
Hemiplegia,
Hypometric saccades,
Migraine,
Motor delay,
Nausea,
Nausea and vomiting,
Nystagmus,
Phonophobia,
Photophobia,
Reduced visual acuity,
Seizure,
Slurred speech,
Truncal ataxia,
Vertigo,
Vomiting
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Mouse (22 sources):
abnormal Purkinje cell morphology,
abnormal auditory brainstem response waveform shape,
abnormal electroretinogram waveform feature,
abnormal excitatory postsynaptic currents,
abnormal kindling response,
abnormal retina ganglion layer morphology,
abnormal retina inner nuclear layer morphology,
abnormal sleep behavior,
abnormal synaptic glutamate release,
behavior/neurological phenotype,
cochlear inner hair cell degeneration,
decreased retina ganglion cell number,
increased cellular sensitivity to hydrogen peroxide,
increased lactate dehydrogenase level,
increased or absent threshold for auditory brainstem response,
increased susceptibility to noise-induced hearing loss,
increased susceptibility to ototoxicity-induced hearing loss,
increased susceptibility to pharmacologically induced seizures,
nervous system phenotype,
optic nerve cupping,
optic nerve degeneration,
vision/eye phenotype
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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.