| Monarch Ortholog Phenotypes
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Human (11 sources):
Cerebral visual impairment,
Global developmental delay,
Intellectual disability,
Nystagmus,
Optic atrophy,
Optic disc pallor,
Reduced visual acuity,
Strabismus,
Tapered finger,
Visual field defect,
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Mouse (30 sources):
abnormal axon guidance,
abnormal axon morphology,
abnormal barrel cortex morphology,
abnormal brain commissure morphology,
abnormal cerebral cortex morphology,
abnormal cingulate gyrus morphology,
abnormal cochlear hair cell development,
abnormal craniofacial morphology,
abnormal embryo size,
abnormal glossopharyngeal ganglion morphology,
abnormal hearing physiology,
abnormal hippocampal commissure morphology,
abnormal organ of Corti supporting cell differentiation,
abnormal orientation of inner hair cell stereociliary bundles,
abnormal orientation of outer hair cell stereociliary bundles,
abnormal primary somatosensory cortex morphology,
absent barrels in primary somatosensory cortex,
increased Deiters cell number,
increased cochlear hair cell number,
increased cochlear inner hair cell number,
increased cochlear outer hair cell number,
neonatal lethality, incomplete penetrance,
nervous system phenotype,
no abnormal phenotype detected,
no swallowing reflex,
perinatal lethality, complete penetrance,
preweaning lethality, complete penetrance,
respiratory system phenotype,
short scala media,
vision/eye phenotype
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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.