otx2 Phenotypes

Summary

Expression

Phenotypes

Gene Literature (550)

XB-GENEPAGE-485219

Gene Symbol: otx2 Gene Name: orthodenticle homeobox 2

Anatomical Phenotypes Phenotypes manually curated with terms from the Xenopus phenotype ontology covering anatomical, gene ontology, and neurobehavioral phenotypes.
abnormal gastrulation (7 sources), abnormal eye morphology (6 sources), abnormal retina morphology (5 sources), absent eye (5 sources), duplicated main body axis (5 sources), decreased size of the eye (4 sources), duplicated head (4 sources), abnormal head morphology (2 sources), absent head (2 sources), decreased size of the notochord (2 sources), duplicated eye (2 sources), abnormal anterior-posterior axis, curved ventral (1 source), abnormal convergent extension (1 source), abnormal embryo morphology (1 source), abnormal forebrain (1 source), abnormal foregut morphology (1 source), abnormal incomplete closing of the blastopore (1 source), abnormal neural tube closure (1 source), abnormal tail morphology (1 source), abnormally delayed closure of blastopore (1 source), absent optic stalk (1 source), decreased length of trunk (1 source), decreased size of the forebrain (1 source), decreased size of the head (1 source), decreased size of the midbrain-hindbrain boundary (1 source), decreased size of the tail (1 source)

Anatomical Phenotypes

Phenotypes manually curated with terms from the Xenopus phenotype ontology covering anatomical, gene ontology, and neurobehavioral phenotypes.

abnormal gastrulation (7 sources), abnormal eye morphology (6 sources), abnormal retina morphology (5 sources), absent eye (5 sources), duplicated main body axis (5 sources), decreased size of the eye (4 sources), duplicated head (4 sources), abnormal head morphology (2 sources), absent head (2 sources), decreased size of the notochord (2 sources), duplicated eye (2 sources), abnormal anterior-posterior axis, curved ventral (1 source), abnormal convergent extension (1 source), abnormal embryo morphology (1 source), abnormal forebrain (1 source), abnormal foregut morphology (1 source), abnormal incomplete closing of the blastopore (1 source), abnormal neural tube closure (1 source), abnormal tail morphology (1 source), abnormally delayed closure of blastopore (1 source), absent optic stalk (1 source), decreased length of trunk (1 source), decreased size of the forebrain (1 source), decreased size of the head (1 source), decreased size of the midbrain-hindbrain boundary (1 source), decreased size of the tail (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: otx2 manipulated (12 sources), otx2 assayed (63 sources)
Computed annotations: otx2 assayed (32 sources)

Experiments (Reagents) These are short form descriptions of experiments using reagents targeting the gene of interest.
Xla Wt + otx2 (12 sources), Xla Wt + tle1 + gsc + otx2 + ssbp3 + ldb1 + lhx1 mRNA (3 sources), Xtr Wt + otx2 MO + crx MO + gsc MO + lhx1 MO (3 sources), Xla Wt + lhx1 MO + otx2 MO (2 sources), Xla Wt + lhx1 + otx2 (1 source), Xla Wt + lhx1 + otx2 + sia1 MO + sia2 MO (1 source), Xla Wt + lhx1 MO + otx2 MO (1 source), Xla Wt + otx2 + ssbp3 + ldb1 + lhx1 (1 source), Xla Wt + otx2 + ssbp3 + ldb1 + lhx1 mRNA (1 source), Xla Wt + otx2 MO (1 source), Xla Wt + otx2 MO (1 source), Xla Wt + otx2 MO (1 source), Xla Wt + otx2-VP16 (1 source), Xla Wt + tle1 + otx2 + gsc mRNA (1 source), Xtr Wt + crx MO + otx2 MO (1 source), Xtr Wt + crx MO + otx2 MO + lhx1 MO (1 source), Xtr Wt + gsc MO + crx MO + otx2 MO (1 source), Xtr wt + otx2 MO (1 source), Xtr Wt + irx3 + otx2 + animal cap explant (0 sources), Xtr Wt + otx2 + animal cap explant (0 sources)

Experiments (Reagents)

These are short form descriptions of experiments using reagents targeting the gene of interest.

Xla Wt + otx2 (12 sources), Xla Wt + tle1 + gsc + otx2 + ssbp3 + ldb1 + lhx1 mRNA (3 sources), Xtr Wt + otx2 MO + crx MO + gsc MO + lhx1 MO (3 sources), Xla Wt + lhx1 MO + otx2 MO (2 sources), Xla Wt + lhx1 + otx2 (1 source), Xla Wt + lhx1 + otx2 + sia1 MO + sia2 MO (1 source), Xla Wt + lhx1 MO + otx2 MO (1 source), Xla Wt + otx2 + ssbp3 + ldb1 + lhx1 (1 source), Xla Wt + otx2 + ssbp3 + ldb1 + lhx1 mRNA (1 source), Xla Wt + otx2 MO (1 source), Xla Wt + otx2 MO (1 source), Xla Wt + otx2 MO (1 source), Xla Wt + otx2-VP16 (1 source), Xla Wt + tle1 + otx2 + gsc mRNA (1 source), Xtr Wt + crx MO + otx2 MO (1 source), Xtr Wt + crx MO + otx2 MO + lhx1 MO (1 source), Xtr Wt + gsc MO + crx MO + otx2 MO (1 source), Xtr wt + otx2 MO (1 source), Xtr Wt + irx3 + otx2 + animal cap explant (0 sources), Xtr Wt + otx2 + animal cap explant (0 sources)

Monarch Ortholog Phenotypes These phenotypes are associated with this gene with a has phenotype relation via Monarch.
Human (99 sources): Abnormal cardiovascular system morphology, Abnormal cranial nerve morphology, Abnormal digit morphology, Abnormal prolactin level, Abnormality of secondary sexual hair, Abnormality of the hypothalamus-pituitary axis, Abnormality of the orbital region, Abnormality of the outer ear, Absence of secondary sex characteristics, Absent nares, Absent septum pellucidum, Agenesis of corpus callosum, Aglossia, Amenorrhea, Anophthalmia, Anosmia, Anterior pituitary agenesis, Anterior pituitary hypoplasia, Aplasia/Hypoplasia involving the nose, Aplasia/Hypoplasia of the breasts, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the eyebrow, Autism, Cataract, Cleft palate, Coloboma, Conductive hearing impairment, Constipation, Cryptorchidism, Cyclopia, Decreased cervical spine mobility, Decreased circulating ACTH level, Decreased response to growth hormone stimulation test, Decreased testicular size, Delayed puberty, Delayed skeletal maturation, Depressed nasal ridge, Diabetes insipidus, Downslanted palpebral fissures, Dry skin, Ectopic anterior pituitary gland, Ectopic posterior pituitary, Esophageal atresia, Fatigue, Generalized hypotonia, Global developmental delay, Growth delay, Hemiplegia/hemiparesis, Holoprosencephaly, Hypoglycemia, Hypogonadotropic hypogonadism, Hypohidrosis, Hypopituitarism, Hypoplasia of penis, Hypoplasia of the epiglottis, Hypotension, Hypotonia, Infertility, Intellectual disability, Laryngeal hypoplasia, Low-set, posteriorly rotated ears, Mandibular aplasia, Maternal diabetes, Median cleft lip and palate, Microcornea, Microglossia, Micrognathia, Micropenis, Microphthalmia, Narrow internal auditory canal, Narrow mouth, Nystagmus, Obesity, Optic disc hypoplasia, Optic nerve hypoplasia, Osteopenia, Osteoporosis of vertebrae, Pituitary dwarfism, Pituitary hypothyroidism, Polydactyly, Polydipsia, Polyhydramnios, Psychomotor retardation, Respiratory distress, Retinal dystrophy, Seizure, Sensorineural hearing impairment, Septo-optic dysplasia, Severe global developmental delay, Short finger, Short stature, Situs inversus totalis, Sleep disturbance, Strabismus, Synotia, Tracheoesophageal fistula, Tracheomalacia, Visual impairment, obsolete Joint laxity [+]
Mouse (154 sources): abnormal Meckel's cartilage morphology, abnormal adenohypophysis morphology, abnormal alisphenoid bone morphology, abnormal allantois morphology, abnormal amnion morphology, abnormal anterior head development, abnormal axial mesoderm morphology, abnormal basisphenoid bone morphology, abnormal brain development, abnormal cephalic neural fold morphology, abnormal cerebral cortex morphology, abnormal ciliary ganglion morphology, abnormal cone electrophysiology, abnormal craniofacial development, abnormal craniofacial morphology, abnormal cranium morphology, abnormal developmental patterning, abnormal diencephalon morphology, abnormal ectoderm development, abnormal embryo development, abnormal embryonic neuroepithelium morphology, abnormal embryonic tissue morphology, abnormal extraocular muscle morphology, abnormal eye development, abnormal eye distance/ position, abnormal first pharyngeal arch morphology, abnormal forebrain development, abnormal gastrulation, abnormal gonadotroph morphology, abnormal hindbrain development, abnormal incus morphology, abnormal inferior colliculus morphology, abnormal malleus morphology, abnormal mandible morphology, abnormal maxillary prominence morphology, abnormal mesendoderm development, abnormal mesoderm development, abnormal midbrain development, abnormal midbrain-hindbrain boundary development, abnormal midbrain-hindbrain boundary morphology, abnormal motor capabilities/coordination/movement, abnormal nasal capsule morphology, abnormal nasal cavity morphology, abnormal nasal septum morphology, abnormal nervous system development, abnormal neuron differentiation, abnormal neuronal precursor proliferation, abnormal notochord morphology, abnormal oculomotor nerve morphology, abnormal olfactory epithelium morphology, abnormal palate morphology, abnormal presphenoid bone morphology, abnormal pretectal region morphology, abnormal primitive node morphology, abnormal primitive streak elongation, abnormal primitive streak formation, abnormal pterygoid bone morphology, abnormal retina bipolar cell morphology, abnormal retina horizontal cell morphology, abnormal retina layer morphology, abnormal retina pigment epithelium morphology, abnormal rod electrophysiology, abnormal rostral-caudal axis patterning, abnormal sclera morphology, abnormal snout morphology, abnormal somite development, abnormal somite shape, abnormal tegmentum morphology, abnormal temporal bone tympanic part morphology, abnormal third ventricle morphology, abnormal trigeminal V mesencephalic nucleus morphology, abnormal trochlear nerve morphology, abnormal visceral yolk sac endoderm morphology, abnormal visceral yolk sac mesenchyme morphology, abnormal visceral yolk sac morphology, abnormal vomeronasal organ morphology, absent choroid plexus, absent cornea, absent diencephalon, absent embryonic telencephalon, absent forebrain, absent foregut, absent heart, absent mandible, absent mandibular coronoid process, absent maxilla, absent metencephalon, absent nasal capsule, absent nasal placodes, absent nasopharynx, absent olfactory bulb, absent optic vesicle, absent orbitosphenoid bone, absent pharyngeal arches, absent prechordal mesoderm, absent tongue, absent vomeronasal organ, acephaly, aphakia, basisphenoid bone foramen, craniofacial phenotype, decreased body size, decreased dopaminergic neuron number, decreased embryo size, decreased embryonic neuroepithelium thickness, decreased forebrain size, decreased gonadotroph cell number, decreased inferior colliculus size, decreased litter size, decreased midbrain size, decreased retina cone cell number, decreased retina ganglion cell number, decreased retina inner nuclear layer thickness, decreased retina photoreceptor cell number, decreased susceptibility to dopaminergic neuron neurotoxicity, decreased testis weight, decreased visual acuity, embryo phenotype, embryonic growth arrest, embryonic growth retardation, embryonic lethality during organogenesis, complete penetrance, embryonic-extraembryonic boundary constriction, failure of intramembranous bone ossification, forebrain hypoplasia, frontal bone foramen, fused somites, impaired somite development, increased susceptibility to dopaminergic neuron neurotoxicity, loss of dopaminergic neurons, midbrain hypoplasia, neonatal lethality, complete penetrance, neonatal lethality, incomplete penetrance, nervous system phenotype, no abnormal phenotype detected, open neural tube, otocephaly, perinatal lethality, incomplete penetrance, postnatal lethality, postnatal lethality, complete penetrance, postnatal lethality, incomplete penetrance, premature death, prenatal lethality, complete penetrance, preweaning lethality, incomplete penetrance, reduced fertility, reduced male fertility, reproductive system phenotype, retina pigment epithelium hyperplasia, rostral body truncation, small cranium, small heart, small mandible, small tectum, thin retina outer nuclear layer, vision/eye phenotype [+]
View all ortholog results at Monarch