| Monarch Ortholog Phenotypes
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Human (27 sources):
Blindness,
CNS demyelination,
Cerebral hypomyelination,
Cessation of head growth,
Decreased circulating progesterone,
Delusions,
Developmental regression,
Dysarthria,
Emotional lability,
Fever,
Gait disturbance,
Generalized hypotonia,
Gliosis,
Hypotonia,
Lethargy,
Leukoencephalopathy,
Macrocephaly,
Memory impairment,
Optic atrophy,
Personality changes,
Premature ovarian insufficiency,
Primary amenorrhea,
Primary gonadal insufficiency,
Secondary amenorrhea,
Seizure,
Spasticity,
Unsteady gait
[+]
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Mouse (8 sources):
abnormal grip strength,
abnormal mean corpuscular hemoglobin,
decreased grip strength,
decreased mean corpuscular hemoglobin,
embryonic lethality prior to organogenesis,
embryonic lethality prior to tooth bud stage,
increased thigmotaxis,
preweaning lethality, complete penetrance
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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.