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Symbol Name ID |
Pitx2
paired-like homeodomain transcription factor 2 MGI:109340 |
| Darker colors indicate more annotations |
| Human Phenotypes | Abnormal anterior chamber morphology |
Abnormal cornea morphology |
Abnormal corneal limbus morphology |
Abnormally prominent line of Schwalbe |
Posterior embryotoxon |
Megalocornea |
Microcornea |
Corneal astigmatism |
Ectopia pupillae |
Polycoria |
Aplasia/Hypoplasia of the iris |
Aniridia |
Hypoplasia of the iris |
Rieger anomaly |
Optic atrophy |
Hypertelorism |
Strabismus |
Nystagmus |
Visual impairment |
Amblyopia |
Blindness |
Visual loss |
Glaucoma |
| Disease(s) Associated with PITX2 | |||||||||||||||||||||||
| Arts syndrome | |||||||||||||||||||||||
| Axenfeld-Rieger syndrome | |||||||||||||||||||||||
| Axenfeld-Rieger syndrome type 1 | |||||||||||||||||||||||
| ring dermoid of cornea |
| Mouse Phenotypes | abnormal eye muscle morphology |
abnormal extraocular muscle morphology |
absent extraocular muscles |
abnormal eye muscle development |
abnormal optic disk morphology |
optic nerve cupping |
abnormal iris pigmentation |
abnormal eye morphology |
abnormal pupil morphology |
abnormal placement of pupils |
anisocoria |
irregularly shaped pupil |
anterior iris synechia |
abnormal cornea morphology |
absent cornea endothelium |
increased cornea epithelium thickness |
cornea opacity |
absent eye anterior chamber |
enlarged eye anterior chamber |
abnormal lens morphology |
abnormal lens development |
cataract |
abnormal eye development |
abnormal optic fissure closure |
delayed optic fissure closure |
abnormal eye distance/ position |
enophthalmos |
macrophthalmia |
microphthalmia |
abnormal retina layer morphology |
decreased total retina thickness |
decreased b-wave amplitude |
abnormal eye electrophysiology |
abnormal cone electrophysiology |
abnormal rod electrophysiology |
ocular hypertension |
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| Availability | Mouse Genotype | ||||||||||||||||||||||||||||||||||||
| Pitx2egl1/Pitx2egl1 | |||||||||||||||||||||||||||||||||||||
| Pitx2tm1Jfm/Pitx2tm1Jfm | |||||||||||||||||||||||||||||||||||||
| Pitx2tm1Kki/Pitx2tm1Kki | |||||||||||||||||||||||||||||||||||||
| Pitx2tm1Rsd/Pitx2tm1Rsd | |||||||||||||||||||||||||||||||||||||
| Pitx2tm1Sac/Pitx2tm1Sac | |||||||||||||||||||||||||||||||||||||
| Pitx2tm2.1Jfm/Pitx2tm2.1Jfm | |||||||||||||||||||||||||||||||||||||
| Pitx2tm2Sac/Pitx2tm2Sac | |||||||||||||||||||||||||||||||||||||
| Pitx2tm1.1Dmm/Pitx2tm2Sac | |||||||||||||||||||||||||||||||||||||
| Pitx2tm1b(EUCOMM)Wtsi/Pitx2+ | |||||||||||||||||||||||||||||||||||||
| Pitx2tm1Sac/Pitx2+ | |||||||||||||||||||||||||||||||||||||
| Pitx2tm2Sac/Pitx2+ | |||||||||||||||||||||||||||||||||||||
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
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last database update 04/30/2024 MGI 6.23 |
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