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Phenotypes Associated with This Genotype
Genotype
MGI:2170195
Allelic
Composition
Pitx2tm1Kki/Pitx2tm1Kki
Genetic
Background
involves: 129P2/OlaHsd * C57BL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pitx2tm1Kki mutation (1 available); any Pitx2 mutation (9 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• homozygous embryos are absent after E14.5 (J:55455)
• homozygous embryos are absent after E14.5 (J:55455)

embryogenesis
• the mesodermal cell layers on the left half of the amnion ball consists of 4 to 6 layers rather than the normal single layer (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 (J:55455)

cardiovascular system
• at E11.5 swelling is seen in the atrioventricular canal region between the left atrium and ventricle (J:55455)
• at E11.5 swelling is seen in the atrioventricular canal region between the left atrium and ventricle (J:55455)
• at E11.5 the atrioventricular cushions exhibit pronounced growth (J:55455)
• at E11.5 the atrioventricular cushions exhibit pronounced growth (J:55455)
• the aorta is positioned anteriorly, rather than posteriorly, to the pulmonary trunk (J:55455)
• the aorta is positioned anteriorly, rather than posteriorly, to the pulmonary trunk (J:55455)
• at E13.5 a common atrioventricular valve forms on the left ventricle, and the mitral and tricuspid valves have not developed (J:55455)
• at E13.5 a common atrioventricular valve forms on the left ventricle, and the mitral and tricuspid valves have not developed (J:55455)
• at E10.5 the left atrium is enlarged (J:55455)
• at E10.5 the left atrium is enlarged (J:55455)
• at E13.5 the left and right atria are side by side and lack a septum forming a single 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 (J:55455)
• right ventricular hypoplasia (J:55455)
• right ventricular hypoplasia (J:55455)

digestive/alimentary system
• at E11.0 - E11.5, primary rotation of the midgut fails to occur (J:55455)
• at E11.0 - E11.5, primary rotation of the midgut fails to occur (J:55455)

respiratory system
• at E13.5 the left lung is a mirror image of the right lung (J:55455)
• at E13.5 the left lung is a mirror image of the right lung (J:55455)

vision/eye
• at E12.5 the extraocular muscles are absent (J:55455)
• at E12.5 the extraocular muscles are absent (J:55455)
• at E12.5, a 5- to 10-fold increase in the mesothelial layer of the cornea is seen (J:55455)
• at E12.5, a 5- to 10-fold increase in the mesothelial layer of the cornea is seen (J:55455)

skeleton
• 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 (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 (J:55455)
• the left ribs are splayed outward (J:55455)
• the left ribs are splayed outward (J:55455)

growth/size/body
• the left lateral body wall fails to turn inward and the ventral body wall does not close (J:55455)
• 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 (J:55455)
• the left lateral body wall fails to turn inward and the ventral body wall does not close (J:55455)
• 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 (J:55455)
• at E13.5 the left lung is a mirror image of the right lung (J:55455)
• at E13.5 the left lung is a mirror image of the right lung (J:55455)

muscle
• at E12.5 the extraocular muscles are absent (J:55455)
• at E12.5 the extraocular muscles are absent (J:55455)

Mouse Models of Human Disease
OMIM ID Ref(s)
Axenfeld-Rieger Syndrome, Type 1; RIEG1 180500 J:55455


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory