Phenotypes Associated with This Genotype

Genotype
MGI:3690085

• Allelic Composition: Pitx2^tm2Sac/Pitx2⁺; Tbx1^tm1Bem/Tbx1⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * SJL

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

neonatal lethality, complete penetrance ( J:107397 )

• become cyanotic immediately after birth and die

cardiovascular system

supravalvar pulmonary trunk stenosis ( J:107397 )

• stenosis of the pulmonary trunk

abnormal heart morphology ( J:107397 )

• exhibit severe cardiac defects with incomplete penetrance (about 60%) at E15.5, E18.5 and in newborns

abnormal fetal atrioventricular canal morphology ( J:107397 )

• enlarged atrioventricular canal at E10.5

abnormal coronary vessel morphology ( J:107397 )

• occasionally see malformation of the coronary vessels

abnormal heart and great vessel attachment ( J:107397 )

• occasionally see mispositioning of the aorta

double outlet right ventricle ( J:107397 )

• some show the aorta and the pulmonary artery arising from the right ventricle

anomalous pulmonary venous connection ( J:107397 )

• abnormal drainage of the pulmonary vein into a common instead of the left atrium

abnormal atrioventricular valve morphology ( J:107397 )

• atrioventricular valve defects

common atrioventricular valve ( J:107397 )

atrial septal defect ( J:107397 )

• atrial septal defects

abnormal heart shape ( J:107397 )

• hearts are malformed, however they are properly patterned in the atrioventricular canal and around the inner curvature

abnormal heart ventricle morphology ( J:107397 )

• reduced ventricular expansion and abnormal ventricular shape are seen at E10.5

ventricular septal defect ( J:107397 )

• ventricular septal defects

homeostasis/metabolism

cyanosis ( J:107397 )

• become cyanotic immediately after birth