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Symbol
Name
ID 		Pitx2
paired-like homeodomain transcription factor 2
MGI:109340
Phenotype annotations related to craniofacial
*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
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+
Contributing Projects:
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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Send questions and comments to User Support. 		last database update
04/16/2024
MGI 6.23 		The Jackson Laboratory