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Mammalian Phenotype Ontology Annotations
Query Results - Summary
Symbol
Name
ID 		Pitx2
paired-like homeodomain transcription factor 2
MGI:109340
161 phenotypes from 16 alleles in 15 genetic backgrounds
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Allelic Composition
Genetic Background		 Annotated Term Reference
Pitx2egl1/Pitx2egl1
C57BL/6J-Pitx2egl1/Boc 		abnormal cone electrophysiology J:269565
abnormal eye electrophysiology J:269565
abnormal iris pigmentation J:269565
abnormal retina layer morphology J:269565
abnormal rod electrophysiology J:269565
anterior iris synechia J:269565
cornea opacity J:269565
decreased b-wave amplitude J:269565
decreased total retina thickness J:269565
enlarged eye anterior chamber J:269565
macrophthalmia J:269565
ocular hypertension J:269565
optic nerve cupping J:269565
Pitx2tm1.1Dmm/Pitx2tm1.1Dmm
B6.129P2-Pitx2tm1.1Dmm 		abnormal embryo development J:181058
abnormal embryo turning J:181058
abnormal heart morphology J:181058
Pitx2tm1.1Dmm/Pitx2tm1.1Sac
Tg(Nes-cre)1Kln/0
involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL 		abnormal nervous system tract morphology J:181058
Pitx2tm1.1Dmm/Pitx2tm2Sac
involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6J 		abnormal embryo development J:181058
abnormal embryo turning J:181058
abnormal eye distance/ position J:181058
abnormal heart morphology J:181058
abnormal nervous system tract morphology J:181058
abnormal neuronal migration J:181058
abnormal tooth morphology J:181058
pituitary gland hypoplasia J:181058
Pitx2tm1.1Mbf/Pitx2tm1.1Mbf
Mesp1tm2(cre)Ysa/Mesp1+
involves: C57BL/6 * CBA 		abnormal heart left atrium auricular region morphology J:167616
heart right ventricle hypoplasia J:167616
Pitx2tm1.1Sac/Pitx2tm2Sac
Tg(Tshb-cre)4Sac/0
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL 		decreased body weight J:197591
normal homeostasis/metabolism phenotype J:197591
increased circulating thyroid-stimulating hormone level J:197591
small thyroid gland J:197591
Pitx2tm1b(EUCOMM)Wtsi/Pitx2+
C57BL/6N-Pitx2tm1b(EUCOMM)Wtsi/H 		abnormal optic disk morphology J:211773
abnormal tooth morphology J:211773
cornea opacity J:211773
enlarged heart J:211773
increased grip strength J:211773
irregularly shaped pupil J:211773
small testis J:211773
Pitx2tm1b(EUCOMM)Wtsi/Pitx2tm1b(EUCOMM)Wtsi
C57BL/6N-Pitx2tm1b(EUCOMM)Wtsi/H 		prenatal lethality J:211773
preweaning lethality, complete penetrance J:211773
Pitx2tm1Hmd/Pitx2tm1Hmd
involves: C3H * C57BL/6 * C57BL/6J 		abnormal aorta morphology J:128475
abnormal aortic arch morphology J:127715
abnormal atrioventricular cushion morphology J:128475
abnormal azygos vein morphology J:128475
abnormal cardiac outflow tract development J:127715
abnormal duodenum morphology J:128475
abnormal hepatic portal vein morphology J:128475
abnormal left-right axis patterning J:128475
abnormal pancreas morphology J:128475
abnormal sixth pharyngeal arch artery morphology J:127715
abnormal vena cava morphology J:128475
atrial septal defect J:128475
atrioventricular septal defect J:128475
common atrioventricular valve J:128475
dextrocardia J:128475
double outlet right ventricle J:128475
failure of atrioventricular cushion closure J:128475
right atrial isomerism J:128475
right pulmonary isomerism J:128475
small spleen J:128475
transposition of great arteries J:128475
ventricular septal defect J:128475
Pitx2tm1Jfm/Pitx2+
involves: 129S4/SvJaeSor 		atrial fibrillation J:160540
normal digestive/alimentary phenotype J:69854
irregular heartbeat J:160540
prolonged QRS complex duration J:160540
right pulmonary isomerism J:69854
Pitx2tm1Jfm/Pitx2tm1Jfm
involves: 129S4/SvJaeSor 		abnormal cornea morphology J:57674
abnormal digestive system development J:57674, J:69854
abnormal fetal atrioventricular canal morphology J:57674
abnormal heart atrium morphology J:69854
abnormal interatrial septum morphology J:69854
abnormal mandible morphology J:57674
abnormal maxilla morphology J:57674
abnormal placement of pupils J:57674
abnormal superior vena cava morphology J:69854
abnormal truncus arteriosus septation J:57674, J:69854
absent cornea endothelium J:57674
absent coronary sinus J:69854
absent extraocular muscles J:57674
absent eye anterior chamber J:57674
anomalous pulmonary venous connection J:69854
arrest of tooth development J:57674, J:87220
cleft palate J:57674
common atrioventricular valve J:69854
dextrocardia J:57674
double outlet right ventricle J:69854
double outlet right ventricle with atrioventricular septal defect J:69854
failure of atrioventricular cushion closure J:69854
incomplete embryo turning J:57674
irregularly shaped pupil J:57674
lethality throughout fetal growth and development, complete penetrance J:69854
lethality throughout fetal growth and development, incomplete penetrance J:57674
omphalocele J:57674
right atrial isomerism J:69854
right pulmonary isomerism J:57674, J:69854
small Meckel's cartilage J:87220
spleen hypoplasia J:57674
Pitx2tm1Jfm/Pitx2tm2.1Jfm
involves: 129S4/SvJaeSor * C57BL/6J 		abnormal digestive system development J:69854
abnormal heart atrium morphology J:69854
lethality throughout fetal growth and development, incomplete penetrance J:69854
right pulmonary isomerism J:69854
Pitx2tm1Jfm/Pitx2tm2Jfm
involves: 129S4/SvJaeSor 		arrest of tooth development J:87220
Pitx2tm1Jfm/Pitx2tm2Jfm
involves: 129S4/SvJaeSor * C57BL/6J 		abnormal digestive system development J:69854
abnormal heart atrium morphology J:69854
lethality throughout fetal growth and development, incomplete penetrance J:69854
right pulmonary isomerism J:69854
Pitx2tm1Jfm/Pitx2tm4(cre)Jfm
involves: 129S4/SvJaeSor 		abnormal cell migration J:87220
Pitx2tm1Kki/Pitx2tm1Kki
involves: 129P2/OlaHsd * C57BL 		abnormal atrioventricular cushion morphology J:55455
abnormal cornea morphology J:55455
abnormal digestive system development J:55455
abnormal fetal atrioventricular canal morphology J:55455
abnormal heart and great artery attachment J:55455
abnormal heart development J:55455
abnormal mesoderm development J:55455
abnormal rib development J:55455
abnormal thoracic cage morphology J:55455
abnormal ventral body wall morphology J:55455
absent extraocular muscles J:55455
common atrioventricular valve J:55455
common atrium J:55455
double outlet right ventricle J:55455
enophthalmos J:55455
heart right ventricle hypoplasia J:55455
increased heart left atrium size J:55455
lethality throughout fetal growth and development, complete penetrance J:55455
right pulmonary isomerism J:55455
splayed ribs J:55455
Pitx2tm1Rsd/Pitx2tm1Rsd
involves: 129S1/Sv * 129X1/SvJ 		abnormal developmental patterning J:57673
abnormal embryonic tissue morphology J:57673
abnormal extraocular muscle morphology J:57673
abnormal facial muscle morphology J:57673
abnormal lens morphology J:57673
abnormal liver morphology J:57673
abnormal mandible morphology J:57673
abnormal periorbital region morphology J:57673
abnormal pituitary gland development J:57673
abnormal spleen morphology J:57673
abnormal stomach position or orientation J:57673
abnormal ventral body wall morphology J:57673
arrest of tooth development J:57673
axial mesoderm hypoplasia J:57673
common atrium J:57673
dextrocardia J:57673
embryonic lethality during organogenesis, incomplete penetrance J:57673
incomplete embryo turning J:57673
lethality throughout fetal growth and development, complete penetrance J:57673
lordosis J:57673
pituitary gland hypoplasia J:57673
right pulmonary isomerism J:57673
thoracoabdominoschisis J:57673
ventricular hypoplasia J:57673
Pitx2tm1Sac/Pitx2+
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J 		abnormal placement of pupils J:51160
abnormal pupil morphology J:51160
anisocoria J:51160
cataract J:51160
decreased body size J:51160
malocclusion J:51160
microphthalmia J:51160
misaligned incisors J:51160
Pitx2tm1Sac/Pitx2tm1Sac
involves: 129S1/Sv * 129X1/SvJ 		abnormal adenohypophysis morphology J:73774
absent gonadotrophs J:73774
decreased follicle stimulating hormone level J:73774
decreased luteinizing hormone level J:73774
decreased somatotroph cell number J:73774
decreased thyrotroph cell number J:73774
Pitx2tm1Sac/Pitx2tm1Sac
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J 		abnormal eye muscle morphology J:51160
abnormal heart position or orientation J:51160
abnormal interventricular septum morphology J:51160
normal endocrine/exocrine gland phenotype J:51160
lethality throughout fetal growth and development, complete penetrance J:51160
right pulmonary isomerism J:51160
Pitx2tm1Sac/Pitx2tm2Sac
involves: 129S1/Sv * 129X1/SvJ 		small Rathke's pouch J:73774
Pitx2tm1Sac/Pitx2tm2Sac
Tg(Lhb-cre)1Sac/0
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * SJL 		normal growth/size/body region phenotype J:142726
normal reproductive system phenotype J:142726
Pitx2tm2.1Jfm/Pitx2tm2.1Jfm
involves: 129S4/SvJaeSor 		normal craniofacial phenotype J:87220
Pitx2tm2.1Jfm/Pitx2tm2.1Jfm
involves: 129S4/SvJaeSor * C57BL/6J 		abnormal digestive system development J:69854
abnormal eye morphology J:69854
abnormal intestine morphology J:69854
normal cardiovascular system phenotype J:69854
cleft palate J:69854
postnatal lethality, incomplete penetrance J:69854
right pulmonary isomerism J:69854
Pitx2tm2.1Jfm/Pitx2tm3.1Jfm
involves: 129S4/SvJaeSor 		normal craniofacial phenotype J:87220
Pitx2tm2Jfm/Pitx2tm2.1Jfm
involves: 129S4/SvJaeSor 		abnormal molar morphology J:87220
Pitx2tm2Sac/Pitx2+
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J 		abnormal placement of pupils J:51160
abnormal pupil morphology J:51160
anisocoria J:51160
cataract J:51160
decreased body size J:51160
malocclusion J:51160
microphthalmia J:51160
misaligned incisors J:51160
Pitx2tm2Sac/Pitx2tm2Sac
involves: 129S1/Sv * 129X1/SvJ 		adenohypophysis hypoplasia J:73774
Pitx2tm2Sac/Pitx2tm2Sac
involves: 129S1/Sv * 129X1/SvJ * C57BL/6J 		abnormal adenohypophysis development J:51160
abnormal atrioventricular valve morphology J:51160
abnormal eye development J:51160
abnormal eye muscle development J:51160
abnormal heart atrium morphology J:51160
abnormal heart position or orientation J:51160
abnormal interventricular septum morphology J:51160
abnormal lens development J:51160
abnormal neuron differentiation J:88779
abnormal optic fissure closure J:51160
abnormal Rathke's pouch apoptosis J:99227
abnormal Rathke's pouch development J:51160, J:99227
abnormal vena cava morphology J:51160
abnormal ventral body wall morphology J:51160
common atrium J:51160
decreased embryo size J:51160
delayed optic fissure closure J:51160
embryonic lethality, complete penetrance J:51160
enlarged heart J:51160
exencephaly J:51160
incomplete embryo turning J:51160
increased cornea epithelium thickness J:51160
microphthalmia J:51160
right pulmonary isomerism J:51160
Pitx2tm3.1Jfm/Pitx2tm3.1Jfm
involves: 129S4/SvJaeSor 		normal craniofacial phenotype J:87220
double outlet right ventricle J:92872
right aortic arch J:92872
right pulmonary isomerism J:92872
situs inversus J:92872
small spleen J:92872
ventricular septal defect J:92872
Pitx2tm3.1Jfm/Pitx2tm3.1Jfm
involves: 129S4/SvJaeSor * C57BL/6J 		abnormal atrioventricular cushion morphology J:79853
abnormal left-right axis patterning J:79853
abnormal pharyngeal arch artery morphology J:79853
abnormal vein morphology J:79853
anomalous pulmonary venous connection J:79853
cyanosis J:79853
double aortic arch J:79853
double outlet right ventricle J:79853
normal embryo phenotype J:79853
neonatal lethality, complete penetrance J:79853
right aortic arch J:79853
ventricular septal defect J:79853
Pitx2tm3Jfm/Pitx2+
involves: 129S4/SvJaeSor * C57BL/6J 		no abnormal phenotype detected J:79853
Pitx2tm4(cre)Jfm/Pitx2+
Not Specified 		abnormal enamel morphology J:275989
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
11/12/2024
MGI 6.24 		The Jackson Laboratory