Phenotypes Associated with This Genotype

Genotype
MGI:2170195

• Allelic Composition: Pitx2^tm1Kki/Pitx2^tm1Kki
• Genetic Background: involves: 129P2/OlaHsd * C57BL

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

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:55455 )

• homozygous embryos are absent after E14.5

embryo

abnormal mesoderm development ( J:55455 )

• the mesodermal cell layers on the left half of the amnion ball consists of 4 to 6 layers rather than the normal single layer

cardiovascular system

abnormal heart development ( J:55455 )

abnormal fetal atrioventricular canal morphology ( J:55455 )

• at E11.5 swelling is seen in the atrioventricular canal region between the left atrium and ventricle

abnormal atrioventricular cushion morphology ( J:55455 )

• at E11.5 the atrioventricular cushions exhibit pronounced growth

abnormal heart and great artery attachment ( J:55455 )

• the aorta is positioned anteriorly, rather than posteriorly, to the pulmonary trunk

double outlet right ventricle ( J:55455 )

common atrioventricular valve ( J:55455 )

• at E13.5 a common atrioventricular valve forms on the left ventricle, and the mitral and tricuspid valves have not developed

increased heart left atrium size ( J:55455 )

• at E10.5 the left atrium is enlarged

common atrium ( J:55455 )

• at E13.5 the left and right atria are side by side and lack a septum forming a single common atrium

heart right ventricle hypoplasia ( J:55455 )

• right ventricular hypoplasia

digestive/alimentary system

abnormal digestive system development ( J:55455 )

• at E11.0 - E11.5, primary rotation of the midgut fails to occur

respiratory system

right pulmonary isomerism ( J:55455 )

• at E13.5 the left lung is a mirror image of the right lung

vision/eye

absent extraocular muscles ( J:55455 )

• at E12.5 the extraocular muscles are absent

abnormal cornea morphology ( J:55455 )

• at E12.5, a 5- to 10-fold increase in the mesothelial layer of the cornea is seen

enophthalmos ( J:55455 )

skeleton

abnormal thoracic cage morphology ( J:55455 )

abnormal rib development ( J:55455 )

• the right ribs remain in the cartilage primordium of the proximal part of each rib and do not form the left part of the rib cage

splayed ribs ( J:55455 )

• the left ribs are splayed outward

growth/size/body

abnormal ventral body wall morphology ( J:55455 )

• the left lateral body wall fails to turn inward and the ventral body wall does not close

• failure of body wall closure and anticlockwise bending of the body axis results in extrusion of the abdominal and thoracic organs towards the left side

right pulmonary isomerism ( J:55455 )

• at E13.5 the left lung is a mirror image of the right lung

muscle

absent extraocular muscles ( J:55455 )

• at E12.5 the extraocular muscles are absent

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Axenfeld-Rieger syndrome type 1		DOID:0110120	OMIM:180500	J:55455