| Monarch Ortholog Phenotypes
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Human (10 sources):
Absent speech,
Cerebral hypomyelination,
Epileptic encephalopathy,
Global developmental delay,
Hyperreflexia,
Myopia,
Reduced eye contact,
Seizure,
Severe muscular hypotonia,
Spasticity
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Mouse (22 sources):
abnormal aerobic respiration,
abnormal cellular respiration,
abnormal dopamine level,
abnormal GABAergic neuron morphology,
abnormal synaptic dopamine release,
convulsive seizures,
decreased gamma-aminobutyric acid level,
decreased serotonin level,
decreased striatum size,
enhanced behavioral response to amphetamine,
enlarged lateral ventricles,
hunched posture,
hyperresponsive,
impaired balance,
impaired limb coordination,
increased anxiety-related response,
increased taurine level,
increased thigmotaxis,
increased vertical activity,
limb grasping,
oxidative stress,
postnatal lethality, complete penetrance
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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.