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Mammalian Phenotype Ontology Annotations
Query Results - Summary
Symbol
Name
ID 		Pitx2
paired-like homeodomain transcription factor 2
MGI:109340
63 phenotypes from multigenic genotypes
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Allelic Composition
Genetic Background		 Annotated Term Reference
Irf6tm1Bcsl/Irf6tm1Bcsl
Pitx2tm4(cre)Jfm/Pitx2+
involves: 129 		abnormal ameloblast morphology J:275989
abnormal enamel development J:275989
abnormal enamel mineralization J:275989
abnormal enamel morphology J:275989
abnormal enamel rod pattern J:275989
abnormal Hertwig epithelial root sheath morphology J:275989
abnormal incisor color J:275989
abnormal incisor morphology J:275989
abnormal molar crown morphology J:275989
abnormal molar cusp morphology J:275989
abnormal molar morphology J:275989
abnormal molar root morphology J:275989
abnormal tooth morphology J:275989
decreased molar number J:275989
reduced enamel thickness J:275989
supernumerary teeth J:275989
taurodontia J:275989
Lmx1btm1Rjo/Lmx1btm4.1Rjo
Pitx2tm4(cre)Jfm/Pitx2+
involves: 129S7/SvEvBrd 		abnormal cornea endothelium morphology J:161793
abnormal cornea morphology J:161793
abnormal intraocular muscle morphology J:161793
abnormal iridocorneal angle J:161793
abnormal lens epithelium morphology J:161793
abnormal lens morphology J:161793
absent ciliary body J:161793
absent trabecular meshwork J:161793
cornea opacity J:161793
iris hypoplasia J:161793
irregularly shaped pupil J:161793
microphthalmia J:161793
small lens J:161793
Pitx1tm1Jdr/Pitx1+
Pitx2tm1Sac/Pitx2tm1Sac
involves: 129S1/Sv * 129X1/SvJ 		small Rathke's pouch J:73774
Pitx1tm1Jdr/Pitx1tm1Jdr
Pitx2tm1Sac/Pitx2+
involves: 129S1/Sv * 129X1/SvJ 		small Rathke's pouch J:73774
Pitx1tm1Jdr/Pitx1tm1Jdr
Pitx2tm1Sac/Pitx2tm1Sac
involves: 129S1/Sv * 129X1/SvJ 		abnormal fibula morphology J:80020
abnormal hindlimb morphology J:80020
abnormal Rathke's pouch development J:73774
absent femur J:80020
absent tibia J:80020
oligodactyly J:80020
small limb buds J:80020
Pitx1tm1Jdr/Pitx1tm1Jdr
Pitx2tm1Sac/Pitx2tm2Sac
involves: 129S1/Sv * 129X1/SvJ 		small limb buds J:80020
Pitx1tm1Jdr/Pitx1tm1Jdr
Pitx2tm2Sac/Pitx2+
involves: 129S1/Sv * 129X1/SvJ 		absent femur J:80020
small hindlimb buds J:80020
Pitx2tm1.1Sac/Pitx2tm2Sac
H2az2Tg(Wnt1-cre)11Rth/H2az2+
Gt(ROSA)26Sortm1Sor/?
involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ * C57BL/6 * CBA 		abnormal eye development J:104125
abnormal eye muscle development J:104125
abnormal eye pigmentation J:104125
abnormal optic stalk morphology J:104125
abnormal retina pigmentation J:104125
absent optic nerve J:104125
absent sclera J:104125
anophthalmia J:104125
decreased cornea stroma thickness J:104125
Pitx2tm2Sac/Pitx2+
Tbx1tm1Bem/Tbx1+
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * SJL 		abnormal atrioventricular valve morphology J:107397
abnormal coronary vessel morphology J:107397
abnormal fetal atrioventricular canal morphology J:107397
abnormal heart and great vessel attachment J:107397
abnormal heart morphology J:107397
abnormal heart shape J:107397
abnormal heart ventricle morphology J:107397
anomalous pulmonary venous connection J:107397
atrial septal defect J:107397
common atrioventricular valve J:107397
cyanosis J:107397
double outlet right ventricle J:107397
neonatal lethality, complete penetrance J:107397
supravalvar pulmonary trunk stenosis J:107397
ventricular septal defect J:107397
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
04/30/2024
MGI 6.23 		The Jackson Laboratory