| Monarch Ortholog Phenotypes
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Human (17 sources):
Aggressive behavior,
Autistic behavior,
Behavioral abnormality,
Bruxism,
Cleft palate,
Delayed speech and language development,
Generalized hypotonia,
Hyperactivity,
Hypotonia,
Intellectual disability,
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Mouse (21 sources):
Purkinje cell degeneration,
abnormal Purkinje cell morphology,
abnormal action potential,
abnormal axon initial segment morphology,
abnormal axon morphology,
abnormal brain wave pattern,
abnormal bronchus epithelium morphology,
abnormal hippocampus neuron morphology,
abnormal kidney collecting duct epithelium morphology,
abnormal node of Ranvier morphology,
abnormal paranodal axoglial junction morphology,
convulsive seizures,
decreased Purkinje cell number,
decreased locomotor activity,
impaired ability to fire action potentials,
postnatal lethality,
postnatal lethality, complete penetrance,
premature death,
prenatal lethality, incomplete penetrance,
small cerebellum,
thin cerebellar molecular 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.