Phenotypes associated with this allele

• Allele Symbol: Pitx2^tm3.1Jfm
• Allele Name: targeted mutation 3.1, James F Martin
• Allele ID: MGI:2445428
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pitx2^tm3.1Jfm/Pitx2^tm3.1Jfm	involves: 129S4/SvJaeSor	MGI:3054744
hm2	Pitx2^tm3.1Jfm/Pitx2^tm3.1Jfm	involves: 129S4/SvJaeSor * C57BL/6J	MGI:2654618
ht3	Pitx2^tm2.1Jfm/Pitx2^tm3.1Jfm	involves: 129S4/SvJaeSor	MGI:3587782

Genotype
MGI:3054744

hm1

• Allelic Composition: Pitx2^tm3.1Jfm/Pitx2^tm3.1Jfm
• Genetic Background: involves: 129S4/SvJaeSor

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

cardiovascular system

right aortic arch ( J:92872 )

• right sided aortic arch is seen in 3 out of 18 mutants

double outlet right ventricle ( J:92872 )

• double outlet right ventricle is seen in 16 out of 18 mutants

ventricular septal defect ( J:92872 )

• ventricular septal defects are seen in 16 out of 18 mutants

growth/size/body

right pulmonary isomerism ( J:92872 )

• right pulmonary isomerism is seen in 16 out of 18 mutants

situs inversus ( J:92872 )

• right-sided (2/18) or midline (1/18) stomach is seen in mutants

hematopoietic system

small spleen ( J:92872 )

• a small or rudimentary spleen is seen in 16 out of 18 mutants

craniofacial

craniofacial phenotype ( J:87220 )

N • tooth development is normal

immune system

small spleen ( J:92872 )

• a small or rudimentary spleen is seen in 16 out of 18 mutants

respiratory system

right pulmonary isomerism ( J:92872 )

• right pulmonary isomerism is seen in 16 out of 18 mutants

Genotype
MGI:2654618

hm2

• Allelic Composition: Pitx2^tm3.1Jfm/Pitx2^tm3.1Jfm
• Genetic Background: involves: 129S4/SvJaeSor * C57BL/6J

mortality/aging

neonatal lethality, complete penetrance ( J:79853 )

• mice became cyanotic and died immediately after birth

cardiovascular system

abnormal pharyngeal arch artery morphology ( J:79853 )

• branchial arch arteries were normal at 11-11.5 dpc, indicating a dysfunction in remodeling rather than initial formation

right aortic arch ( J:79853 )

• 43% exhibited defects at E18.5 including right aortic arch with left brachiocephalic trunk and double aortic arch with no brachiocephalic trunk

double aortic arch ( J:79853 )

• 43% exhibited defects at E18.5 including right aortic arch with left brachiocephalic trunk and double aortic arch with no brachiocephalic trunk

• of the 3 double aortic arch mice, 2 were right dominant and the other was left dominant

abnormal vein morphology ( J:79853 )

abnormal atrioventricular cushion morphology ( J:79853 )

double outlet right ventricle ( J:79853 )

anomalous pulmonary venous connection ( J:79853 )

• pulmonary veins running together into a common medial venous sinus

ventricular septal defect ( J:79853 )

embryo

embryo phenotype ( J:79853 )

N • embryos turned normally

abnormal pharyngeal arch artery morphology ( J:79853 )

• branchial arch arteries were normal at 11-11.5 dpc, indicating a dysfunction in remodeling rather than initial formation

abnormal left-right axis patterning ( J:79853 )

• of aortic arches examined, 62% were left dominant and 38% were right dominant

homeostasis/metabolism

cyanosis ( J:79853 )

craniofacial

abnormal pharyngeal arch artery morphology ( J:79853 )

• branchial arch arteries were normal at 11-11.5 dpc, indicating a dysfunction in remodeling rather than initial formation

Genotype
MGI:3587782

ht3

• Allelic Composition: Pitx2^tm2.1Jfm/Pitx2^tm3.1Jfm
• Genetic Background: involves: 129S4/SvJaeSor

craniofacial

craniofacial phenotype ( J:87220 )

N • tooth development is normal