| Monarch Ortholog Phenotypes
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Human (13 sources):
Autistic behavior,
Developmental regression,
EEG abnormality,
Epileptic encephalopathy,
Generalized hypotonia,
Global developmental delay,
Hypotonia,
Intellectual disability,
Language impairment,
Microcephaly,
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Mouse (33 sources):
abnormal CNS synaptic transmission,
abnormal dendrite morphology,
abnormal dendritic spine morphology,
abnormal discrimination learning,
abnormal excitatory postsynaptic currents,
abnormal excitatory postsynaptic potential,
abnormal glutamate-mediated receptor currents,
abnormal hippocampus pyramidal cell morphology,
abnormal miniature excitatory postsynaptic currents,
abnormal miniature inhibitory postsynaptic currents,
abnormal motor capabilities/coordination/movement,
abnormal spatial learning,
abnormal spatial working memory,
abnormal suckling behavior,
audiogenic seizures,
behavior/neurological phenotype,
decreased anxiety-related response,
decreased body size,
decreased brain size,
decreased prepulse inhibition,
enhanced AMPA-mediated synaptic currents,
impaired cued conditioning behavior,
impaired synaptic plasticity,
increased horizontal stereotypic behavior,
increased neuron apoptosis,
increased startle reflex,
increased susceptibility to pharmacologically induced seizures,
nervous system phenotype,
postnatal lethality, complete penetrance,
postnatal lethality, incomplete penetrance,
reduced long term potentiation,
social withdrawal,
weakness
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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.