Phenotypes associated with this allele

• Allele Symbol: Pitx2^tm1Hmd
• Allele Name: targeted mutation 1, Hiroshi Hamada
• Allele ID: MGI:3767234
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pitx2^tm1Hmd/Pitx2^tm1Hmd	involves: C3H * C57BL/6 * C57BL/6J	MGI:3767241

Genotype
MGI:3767241

hm1

• Allelic Composition: Pitx2^tm1Hmd/Pitx2^tm1Hmd
• Genetic Background: involves: C3H * C57BL/6 * C57BL/6J

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

cardiovascular system

abnormal sixth pharyngeal arch artery morphology ( J:127715 )

• at E12.0, the sixth branchial artery remains bilaterally patent and fails to remodel

• unlike in wild-type mice, apoptosis around the sixth branchial arch does not occur

abnormal aorta morphology ( J:128475 )

• the position of the aorta (in 9 of 18 mice) is reversed on the right side of the thorax

• the position of the aorta and vena cava in the abdomen are reversed (in 4 of 16 mice)

abnormal aortic arch morphology ( J:127715 )

• the laterality of the aortic arch is randomized unlike in wild-type mice

abnormal azygos vein morphology ( J:128475 )

• the position of the azygos vein (in 12 of 18 mice) is reversed on the right side of the thorax

abnormal hepatic portal vein morphology ( J:128475 )

• the portal vein is abnormally positioned on the ventral side of the duodenum (in 1 of 11 mice)

abnormal vena cava morphology ( J:128475 )

• the position of the aorta and vena cava in the abdomen are reversed (in 4 of 16 mice)

abnormal cardiac outflow tract development ( J:127715 )

• at E11.5, the outflow tract fails to adopt a spiral structure and remains linear unlike in wild-type mice

abnormal atrioventricular cushion morphology ( J:128475 )

• the SAVC is hypoplastic while the IAVC is normal in size

failure of atrioventricular cushion closure ( J:128475 )

• at E12.5, the superior and inferior atrioventricular cushion (SAVC and IAVC) are separated compared to in wild-type where they are fused

double outlet right ventricle ( J:128475 )

transposition of great arteries ( J:128475 )

• in all mice

common atrioventricular valve ( J:128475 )

• mice exhibit a common atrioventricular valve

right atrial isomerism ( J:128475 )

• in all mice

atrial septal defect ( J:128475 )

dextrocardia ( J:128475 )

• in 5 of 18 mice

atrioventricular septal defect ( J:128475 )

ventricular septal defect ( J:128475 )

embryo

abnormal sixth pharyngeal arch artery morphology ( J:127715 )

• at E12.0, the sixth branchial artery remains bilaterally patent and fails to remodel

• unlike in wild-type mice, apoptosis around the sixth branchial arch does not occur

abnormal left-right axis patterning ( J:128475 )

• left-right defects are present in mice

• however, the heart looping, embryo turning and the position of the stomach are normal

digestive/alimentary system

abnormal duodenum morphology ( J:128475 )

• the duodenum is aberrantly looped in 12 of 12 mice

• the cross of the duodenum and colon is absent (in 11 of 12 mice)

growth/size/body

right atrial isomerism ( J:128475 )

• in all mice

right pulmonary isomerism ( J:128475 )

• in all mice

hematopoietic system

small spleen ( J:128475 )

craniofacial

abnormal sixth pharyngeal arch artery morphology ( J:127715 )

• at E12.0, the sixth branchial artery remains bilaterally patent and fails to remodel

• unlike in wild-type mice, apoptosis around the sixth branchial arch does not occur

endocrine/exocrine glands

abnormal pancreas morphology ( J:128475 )

• unlike in wild-type mice, the pancreas is on the ventral or right side of the duodenum (in 12 of 12 mice)

immune system

small spleen ( J:128475 )

respiratory system

right pulmonary isomerism ( J:128475 )

• in all mice