Symbol Name ID |
Pitx2
paired-like homeodomain transcription factor 2 MGI:109340 |
* | Aspects of the system are reported to show a normal phenotype. |
Darker colors indicate more annotations |
Human Phenotypes | Hypoplasia of the maxilla |
Midface retrusion |
Prominent forehead |
Everted lower lip vermilion |
Short philtrum |
Thin upper lip vermilion |
Microdontia |
Hypodontia |
Oligodontia |
Drooling |
Depressed nasal bridge |
Wide nasal bridge |
Recurrent upper respiratory tract infections |
Abnormal conjunctiva morphology |
Conjunctival dermolipoma |
Telecanthus |
Prominent supraorbital ridges |
Disease(s) Associated with PITX2 | |||||||||||||||||
Arts syndrome | |||||||||||||||||
Axenfeld-Rieger syndrome | |||||||||||||||||
Axenfeld-Rieger syndrome type 1 | |||||||||||||||||
ring dermoid of cornea |
Mouse Phenotypes | craniofacial phenotype |
abnormal pharyngeal arch artery morphology |
abnormal sixth pharyngeal arch artery morphology |
small Meckel's cartilage |
abnormal tooth morphology |
misaligned incisors |
abnormal molar morphology |
arrest of tooth development |
abnormal enamel morphology |
malocclusion |
abnormal mandible morphology |
abnormal maxilla morphology |
abnormal facial muscle morphology |
cleft palate |
abnormal periorbital region morphology |
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Availability | Mouse Genotype | |||||||||||||||
Pitx2tm1Hmd/Pitx2tm1Hmd | ||||||||||||||||
Pitx2tm1Jfm/Pitx2tm1Jfm | ||||||||||||||||
Pitx2tm1Rsd/Pitx2tm1Rsd | ||||||||||||||||
Pitx2tm2.1Jfm/Pitx2tm2.1Jfm | * | |||||||||||||||
Pitx2tm3.1Jfm/Pitx2tm3.1Jfm | * | |||||||||||||||
Pitx2tm1.1Dmm/Pitx2tm2Sac | ||||||||||||||||
Pitx2tm1b(EUCOMM)Wtsi/Pitx2+ | ||||||||||||||||
Pitx2tm1Jfm/Pitx2tm2Jfm | ||||||||||||||||
Pitx2tm1Sac/Pitx2+ | ||||||||||||||||
Pitx2tm2.1Jfm/Pitx2tm3.1Jfm | * | |||||||||||||||
Pitx2tm2Jfm/Pitx2tm2.1Jfm | ||||||||||||||||
Pitx2tm2Sac/Pitx2+ | ||||||||||||||||
Pitx2tm4(cre)Jfm/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 08/02/2024 MGI 6.24 |
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