| Monarch Ortholog Phenotypes
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Human (15 sources):
Abnormal cerebral white matter morphology,
Aggressive behavior,
Areflexia,
Delayed puberty,
Developmental cataract,
Dysarthria,
Gait disturbance,
Intellectual disability,
Intellectual disability, borderline,
Intellectual disability, moderate,
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Mouse (23 sources):
abnormal blood flow velocity,
abnormal circulating chloride level,
abnormal circulating sodium level,
abnormal coping response,
abnormal muscle electrophysiology,
abnormal neurotransmitter secretion,
abnormal synaptic norepinephrine release,
abnormal vascular endothelial cell physiology,
cardiac fibrosis,
decreased circulating free fatty acids level,
decreased circulating glycerol level,
decreased grip strength,
decreased mean corpuscular hemoglobin concentration,
decreased mean corpuscular volume,
hematopoietic system phenotype,
homeostasis/metabolism phenotype,
impaired smooth muscle contractility,
improved glucose tolerance,
increased bone mineral content,
increased cerebral infarct size,
increased neurotransmitter release,
increased susceptibility to ischemic brain injury,
spleen fibrosis
[+]
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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.