| Monarch Ortholog Phenotypes
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Human (5 sources):
Bilateral tonic-clonic seizure,
Cognitive impairment,
Dementia,
Intellectual disability,
Myoclonus
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Mouse (30 sources):
Purkinje cell degeneration,
abnormal Purkinje cell dendrite morphology,
abnormal anxiety-related response,
abnormal digestive system morphology,
abnormal kidney morphology,
abnormal left-right axis patterning,
abnormal lipid homeostasis,
abnormal lipid level,
abnormal motor learning,
abnormal response to novel object,
abnormal spatial working memory,
behavior/neurological phenotype,
decreased Purkinje cell number,
decreased body size,
decreased brain weight,
decreased locomotor activity,
impaired balance,
increased neuron apoptosis,
lethality throughout fetal growth and development, incomplete penetrance,
lipofuscinosis,
neonatal lethality, complete penetrance,
nervous system phenotype,
neuron degeneration,
premature death,
prenatal lethality, incomplete penetrance,
preweaning lethality, incomplete penetrance,
reduced cerebellar foliation,
right pulmonary isomerism,
situs inversus,
small cerebellum
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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.