pax6 Phenotypes

Summary

Expression

Phenotypes

Gene Literature (347)

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), 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)

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 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, 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, Neurological speech impairment, 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 [+]
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, abnormal cornea anterior stroma morphology, abnormal corneal stroma morphology, abnormal cortical ventricular zone morphology, abnormal craniofacial bone morphology, abnormal craniofacial development, abnormal craniofacial morphology, abnormal diencephalon morphology, abnormal embryonic/fetal subventricular zone morphology, abnormal endocrine pancreas development, abnormal eye development, abnormal eye size, abnormal face development, abnormal forebrain development, abnormal hormone level, abnormal intraocular muscle morphology, abnormal iridocorneal angle, abnormal iris stroma morphology, abnormal lateral nasal prominence morphology, abnormal lens development, abnormal lens epithelium morphology, abnormal lens fiber morphology, abnormal lens induction, abnormal lens vesicle development, abnormal maxillary shelf morphology, abnormal medial nasal prominence morphology, abnormal mitosis, abnormal nasal bone morphology, abnormal nasal capsule morphology, abnormal nasal cavity morphology, abnormal neuron differentiation, abnormal neuron physiology, abnormal olfactory epithelium morphology, abnormal olfactory nerve morphology, abnormal optic cup morphology, abnormal optic placode morphology, abnormal optic vesicle formation, abnormal pallium development, abnormal postnatal subventricular zone morphology, abnormal pretectal region morphology, abnormal respiratory system development, abnormal retina development, abnormal retina ganglion layer morphology, abnormal retina layer morphology, abnormal retina photoreceptor layer morphology, abnormal retina pigment epithelium morphology, abnormal retina progenitor cell morphology, abnormal spinal cord interneuron morphology, abnormal submandibular gland morphology, abnormal telencephalon development, abnormal telencephalon morphology, abnormal vitreous body morphology, absent Schlemm's canal, absent amacrine cells, absent ciliary body, absent eye anterior chamber, absent lens vesicle, absent nasal pit, absent nasal placodes, absent olfactory bulb, absent optic placodes, absent pancreatic alpha cells, absent pancreatic beta cells, absent trabecular meshwork, aphakia, belly spot, corneal-lenticular stalk, craniofacial phenotype, decreased adrenocorticotropin level, decreased birth body size, decreased body length, decreased body size, decreased cell proliferation, decreased circulating growth hormone level, decreased corneal epithelium thickness, decreased embryo size, decreased eye pigmentation, decreased fetal size, decreased pancreatic alpha cell number, decreased total retina thickness, delayed eyelid fusion, disorganized pancreatic islets, ectopic Purkinje cell, embryonic lethality before implantation, incomplete penetrance, embryonic lethality between implantation and somite formation, complete penetrance, embryonic lethality, complete penetrance, embryonic lethality, incomplete penetrance, eye opacity, fused cornea and lens, increased alimentary system tumor incidence, increased circulating ketone body level, increased intestinal adenoma incidence, increased lens epithelium apoptosis, increased retina apoptosis, increased stomach tumor incidence, increased susceptibility to induced pancreatitis, increased tumor incidence, irregularly shaped pupil, neonatal lethality, complete penetrance, neonatal lethality, incomplete penetrance, nervous system phenotype, no abnormal phenotype detected, ocular hypertension, opacity of vitreous body, optic nerve degeneration, perinatal lethality, complete penetrance, perinatal lethality, incomplete penetrance, postnatal lethality, complete penetrance, postnatal lethality, incomplete penetrance, premature death, prenatal lethality, complete penetrance, prenatal lethality, incomplete penetrance, preweaning lethality, complete penetrance, reduced female fertility, renal/urinary system phenotype, small thalamus, submandibular gland hypoplasia, thin cerebral cortex, thin cortical plate, vision/eye phenotype, white spotting [+]
View all ortholog results at Monarch