Mouse Genome Informatics
ht1
    Pitx2tm2Jfm/Pitx2tm2.1Jfm
involves: 129S4/SvJaeSor
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
craniofacial
• orientation of the molars is abnormal

growth/size/body
• orientation of the molars is abnormal


Mouse Genome Informatics
ht2
    Pitx2tm1Jfm/Pitx2tm2Jfm
involves: 129S4/SvJaeSor
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
craniofacial
• molars arrest prior to cap formation

growth/size/body
• molars arrest prior to cap formation

Mouse Models of Human Disease
OMIM IDRef(s)
Axenfeld-Rieger Syndrome, Type 1; RIEG1 180500 J:87220


Mouse Genome Informatics
ht3
    Pitx2tm1Jfm/Pitx2tm2Jfm
involves: 129S4/SvJaeSor * C57BL/6J
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• about 50% of mutant embryos die by E16.5

cardiovascular system
• trabeculation of the right and left atria are similar, unlike in wild-type embryos where more extensive trabeculation is seen in the right atrium

respiratory system
• the left-sided branching pattern is right isomerized

digestive/alimentary system
• in about 14% of mutants rotation of the duodenum does not occur and in about 36% rotation is reversed

growth/size/body
• the left-sided branching pattern is right isomerized