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Summary Expression Phenotypes Gene Literature (347) GO Terms (5) Nucleotides (229) Proteins (110) Interactants (1576) Wiki

pax6     paired box 6

Anatomical Phenotypes
Phenotypes manually curated with terms from the Xenopus phenotype ontology covering anatomical, gene ontology, and neurobehavioral phenotypes.
absent lens (3 sources), abnormal visual behavior (2 sources), absent intestine (2 sources), decreased size of the photoreceptor layer (2 sources), decreased size of the retinal inner nuclear layer (2 sources), decreased size of the retinal pigmented epithelium (2 sources), abnormal eye morphology (1 source), absent retinal ganglion cell layer (1 source), absent retinal outer nuclear layer (1 source), decreased size of the retinal ganglion cell layer (1 source), decreased size of the retinal outer nuclear layer (1 source)
Expression Phenotypes
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.
Manual annotations: pax6 manipulated (2 sources), pax6 assayed (54 sources)
Computed annotations: pax6 assayed (12 sources)
Diseases from the human disease ontology (DO) manually associated with phenotypes from disease models. Sources are grouped by anatomical (AP) and expression (EP) phenotypes.
cataract (1AP source), quadriplegia (1AP source)
Experiments (Reagents)
These are short form descriptions of experiments using reagents targeting the gene of interest.
Xla. Wt + pax6 CRISPR (5 sources), test (2 sources), Xla Wt + pax6 MO (1 source)
Monarch Ortholog Phenotypes
These phenotypes are associated with this gene with a has phenotype relation via Monarch.
Human (61 sources): Abnormal best corrected visual acuity test, Abnormal involuntary eye movements, Abnormality of movement, Abnormality of the optic disc, Abnormality of the orbital region, Abnormality of the pulmonary artery, Abnormality of vision, Aniridia, Anterior synechiae of the anterior chamber, Aplasia/Hypoplasia of the iris, [+]
Mouse (130 sources): abnormal Bowman membrane morphology, abnormal CNS synaptic transmission, abnormal brain commissure morphology, abnormal brain development, abnormal brain internal capsule morphology, abnormal cell cycle checkpoint function, abnormal cerebellar granule cell morphology, abnormal cerebellum external granule cell layer morphology, abnormal cerebellum vermis morphology, abnormal cerebral cortex morphology, [+]

View all ortholog results at Monarch