| Monarch Ortholog Phenotypes
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Human (28 sources):
Absent speech,
Cerebellar atrophy,
Edema,
Epicanthus,
Feeding difficulties,
Full cheeks,
Global developmental delay,
Hyperreflexia,
Hypoplasia of the corpus callosum,
Hypsarrhythmia,
Infantile encephalopathy,
Intellectual disability, profound,
Lissencephaly,
Myoclonus,
Narrow forehead,
Neonatal hypotonia,
Open mouth,
Optic atrophy,
Pachygyria,
Polymicrogyria,
Progressive microcephaly,
Retrognathia,
Seizure,
Severe muscular hypotonia,
Short nose,
Sloping forehead,
Status epilepticus,
Ventriculomegaly
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Mouse (30 sources):
abnormal GABAergic neuron morphology,
abnormal dendritic spine morphology,
abnormal dentate gyrus morphology,
abnormal excitatory postsynaptic currents,
abnormal habituation to a new environment,
abnormal long term object recognition memory,
abnormal neocortex morphology,
abnormal neuron differentiation,
abnormal neuronal precursor cell migration,
abnormal olfactory bulb development,
abnormal olfactory bulb glomerular layer morphology,
abnormal olfactory bulb granule cell layer morphology,
abnormal olfactory bulb mitral cell layer morphology,
abnormal olfactory bulb subventricular zone morphology,
abnormal retina vasculature morphology,
abnormal rostral migratory stream morphology,
decreased angiogenesis,
decreased brain size,
decreased locomotor activity,
decreased neuron number,
decreased prepulse inhibition,
growth/size/body region phenotype,
impaired contextual conditioning behavior,
impaired spatial learning,
nervous system phenotype,
postnatal lethality, complete penetrance,
premature death,
reduced long term potentiation,
reduced sensorimotor gating,
small olfactory bulb
[+]
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View all ortholog results at Monarch
|
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.