Mouse Genome Informatics
hm1
    Pitx2tm1Kki/Pitx2tm1Kki
involves: 129P2/OlaHsd * C57BL
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• homozygous embryos are absent after E14.5

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

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

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

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

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

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
• the left ribs are splayed outward

growth/size/body
• 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
• at E13.5 the left lung is a mirror image of the right lung

muscle
• at E12.5 the extraocular muscles are absent

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