pax6 Phenotypes

Summary

Expression

Phenotypes

Gene Literature (364)

XB-GENEPAGE-484087

Gene Symbol: pax6 Gene Name: 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), 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)

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), 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 (1 source), pax6 assayed (61 sources)
Computed annotations: pax6 assayed (10 sources)

Diseases 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)

Experiments (Reagents) These are short form descriptions of experiments using reagents targeting the gene of interest.
Xla. Wt + pax6 CRISPR (5 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 speech or vocalization, Abnormality of the orbital region, Abnormality of the pulmonary artery, Abnormality of vision, Abnormal optic disc morphology, Aniridia, Anterior synechiae of the anterior chamber, Aplasia/Hypoplasia of the iris, Aplasia/Hypoplasia of the macula, Ataxia, Cataract, Central opacification of the cornea, Cerebellar hypoplasia, Chorioretinal coloboma, Congenital nystagmus, Corneal opacity, Developmental glaucoma, EEG abnormality, Generalized hyperpigmentation, Glaucoma, Global developmental delay, Glucose intolerance, Growth delay, Hearing abnormality, Hypoplasia of the corpus callosum, Hypoplasia of the fovea, Hypoplasia of the iris, Hypotonia, Increased proinsulin:insulin ratio, Intellectual disability, Keratitis, Macular coloboma, Mask-like facies, Motor delay, Neurodevelopmental delay, Nystagmus, Opacification of the corneal stroma, Optic atrophy, Optic disc hypoplasia, Optic nerve aplasia, Optic nerve hypoplasia, Peripheral vitreous opacities, Peters anomaly, Polymicrogyria, Postural tremor, Presenile cataracts, Pseudopapilledema, Reduced visual acuity, Scanning speech, Slurred speech, Strabismus, Subcapsular cataract, Thinning of Descemet membrane, Unilateral microphthalmos, Ventriculomegaly, Vesicoureteral reflux, Visual impairment, Visual loss [+]
View all ortholog results at Monarch

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 speech or vocalization, Abnormality of the orbital region, Abnormality of the pulmonary artery, Abnormality of vision, Abnormal optic disc morphology, Aniridia, Anterior synechiae of the anterior chamber, [+]

View all ortholog results at Monarch