| Monarch Ortholog Phenotypes
|
Human (22 sources):
Abnormal autonomic nervous system physiology,
Abnormal muscle tone,
Axonal degeneration,
Bilateral tonic-clonic seizure,
Decreased activity of mitochondrial complex I,
Decreased activity of mitochondrial complex III,
Delayed myelination,
Diffuse cerebellar atrophy,
Gastrointestinal dysmotility,
Gastrojejunal tube feeding in infancy,
Global brain atrophy,
Increased circulating lactate concentration,
Increased CSF lactate,
Increased CSF protein concentration,
Myoclonic spasms,
Neurodegeneration,
Optic neuropathy,
Poor coordination,
Primary microcephaly,
Retinopathy,
Severe global developmental delay,
Subependymal cysts
[+]
|
|
Mouse (5 sources):
abnormal cellular respiration,
decreased embryo size,
embryonic lethality during organogenesis, complete penetrance,
incomplete rostral neuropore closure,
increased embryonic tissue cell apoptosis
|
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.