| Monarch Ortholog Phenotypes
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Human (21 sources):
Abnormality of movement,
Apnea,
Ataxia,
Exaggerated startle response,
Fasciculations,
Gait disturbance,
Gastroesophageal reflux,
Hernia,
Hiatus hernia,
Hip dislocation,
Hyperreflexia,
Intellectual disability,
Joint dislocation,
Joint stiffness,
Muscle stiffness,
Myoclonus,
Rigidity,
Seizure,
Sleep disturbance,
Spasticity,
Umbilical hernia
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Mouse (31 sources):
abnormal CNS synaptic transmission,
abnormal craniofacial morphology,
abnormal embryo size,
abnormal forebrain development,
abnormal hindbrain development,
abnormal inhibitory postsynaptic currents,
abnormal mean corpuscular hemoglobin concentration,
abnormal midbrain development,
abnormal miniature inhibitory postsynaptic currents,
abnormal neuromuscular synapse morphology,
abnormal neuron physiology,
abnormal pericardium morphology,
abnormal seminal vesicle morphology,
abnormal sleep behavior,
abnormal survival,
behavior/neurological phenotype,
decreased body size,
impaired righting response,
increased grooming behavior,
increased mean corpuscular hemoglobin concentration,
lethality at weaning, incomplete penetrance,
lethality, incomplete penetrance,
limb grasping,
muscle hypertonia,
nervous system phenotype,
postnatal lethality, complete penetrance,
premature death,
preweaning lethality, complete penetrance,
reduced fertility,
slow postnatal weight gain,
tonic seizures
[+]
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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.