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Symbol
Name
ID
Pitx2
paired-like homeodomain transcription factor 2
MGI:109340
Phenotype annotations related to cardiovascular system
*Aspects of the system are reported to show a normal phenotype.
Darker colors indicate more annotations
Human Phenotypes
Abnormal cardiovascular system morphology
Disease(s) Associated with PITX2
Axenfeld-Rieger syndrome

Mouse Phenotypes
cardiovascular system phenotype
abnormal pharyngeal arch artery morphology
abnormal sixth pharyngeal arch artery morphology
abnormal aorta morphology
abnormal aortic arch morphology
right aortic arch
double aortic arch
abnormal vein morphology
abnormal azygos vein morphology
abnormal hepatic portal vein morphology
abnormal vena cava morphology
abnormal superior vena cava morphology
abnormal cardiac outflow tract development
abnormal truncus arteriosus septation
abnormal heart development
abnormal fetal atrioventricular canal morphology
abnormal atrioventricular cushion morphology
failure of atrioventricular cushion closure
abnormal heart morphology
absent coronary sinus
abnormal heart and great artery attachment
double outlet right ventricle
double outlet right ventricle with atrioventricular septal defect
transposition of great arteries
anomalous pulmonary venous connection
abnormal atrioventricular valve morphology
common atrioventricular valve
abnormal heart atrium morphology
right atrial isomerism
abnormal heart left atrium auricular region morphology
increased heart left atrium size
abnormal interatrial septum morphology
atrial septal defect
common atrium
abnormal heart position or orientation
dextrocardia
atrioventricular septal defect
abnormal interventricular septum morphology
ventricular septal defect
enlarged heart
ventricular hypoplasia
heart right ventricle hypoplasia
irregular heartbeat
atrial fibrillation
prolonged QRS complex duration
Availability Mouse Genotype
Pitx2tm1.1Dmm/Pitx2tm1.1Dmm
Pitx2tm1Hmd/Pitx2tm1Hmd
Pitx2tm1Jfm/Pitx2tm1Jfm
Pitx2tm1Kki/Pitx2tm1Kki
Pitx2tm1Rsd/Pitx2tm1Rsd
Pitx2tm1Sac/Pitx2tm1Sac
Pitx2tm2.1Jfm/Pitx2tm2.1Jfm *
Pitx2tm2Sac/Pitx2tm2Sac
Pitx2tm3.1Jfm/Pitx2tm3.1Jfm
Pitx2tm1.1Dmm/Pitx2tm2Sac
Pitx2tm1b(EUCOMM)Wtsi/Pitx2+
Pitx2tm1Jfm/Pitx2+
Pitx2tm1Jfm/Pitx2tm2.1Jfm
Pitx2tm1Jfm/Pitx2tm2Jfm
Pitx2tm1.1Mbf/Pitx2tm1.1Mbf
Mesp1tm2(cre)Ysa/Mesp1+  (conditional)

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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last database update
05/14/2024
MGI 6.23
The Jackson Laboratory