Mouse Genome Informatics
ht1
     Pitx2tm2Jfm/Pitx2tm2.1Jfm
involves: 129S4/SvJaeSor
Key:
♀ phenotype observed in females WTSI Wellcome Trust Sanger Institute
♂ phenotype observed in males Euro Europhenome
N normal phenotype
craniofacial
abnormal molar morphology ( J:87220 )
• 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 Euro Europhenome
N normal phenotype
craniofacial
arrest of tooth development ( J:87220 )
• 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 Euro Europhenome
N normal phenotype
mortality/aging
partial lethality throughout fetal growth and development ( J:69854 )
• about 50% of mutant embryos die by E16.5

cardiovascular system
abnormal heart atrium morphology ( J:69854 )
• 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
right pulmonary isomerism ( J:69854 )
• the left-sided branching pattern is right isomerized

digestive/alimentary system
abnormal digestive system development ( J:69854 )
• in about 14% of mutants rotation of the duodenum does not occur and in about 36% rotation is reversed

growth/size
right pulmonary isomerism ( J:69854 )
• the left-sided branching pattern is right isomerized