| Monarch Ortholog Phenotypes
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Human (17 sources):
Absent speech,
Cerebellar hypoplasia,
Dysphagia,
Facial asymmetry,
Generalized hypotonia,
Global developmental delay,
Headache,
Hypoplasia of the brainstem,
Hypoplasia of the corpus callosum,
Involuntary movements,
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Mouse (31 sources):
abnormal cerebral cortex morphology,
abnormal cerebral hemisphere morphology,
abnormal dentate gyrus morphology,
abnormal electroretinogram waveform feature,
abnormal hippocampal commissure morphology,
abnormal hippocampus pyramidal cell layer,
abnormal photoreceptor connecting cilium morphology,
abnormal retina bipolar cell morphology,
abnormal retina development,
abnormal retina neuronal layer morphology,
abnormal retina photoreceptor layer morphology,
abnormal stratification in cerebral cortex,
absent b-wave,
absent mesoderm,
absent photoreceptor inner segment,
absent photoreceptor outer segment,
decreased a-wave amplitude,
decreased b-wave amplitude,
decreased keratinocyte migration,
delayed wound healing,
ectopic hippocampus pyramidal cells,
embryonic growth arrest,
embryonic lethality between implantation and somite formation, complete penetrance,
failure of primitive streak formation,
increased keratinocyte adhesion,
neonatal lethality, complete penetrance,
nervous system phenotype,
retina photoreceptor degeneration,
small lateral ventricles,
thin cerebral cortex,
thin retina outer nuclear layer
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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.