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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Pitx2tm2Jfm
targeted mutation 2, James F Martin
MGI:2136269
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
ht1
Pitx2tm2Jfm/Pitx2tm2.1Jfm involves: 129S4/SvJaeSor MGI:3587784
ht2
Pitx2tm1Jfm/Pitx2tm2Jfm involves: 129S4/SvJaeSor MGI:3587787
ht3
Pitx2tm1Jfm/Pitx2tm2Jfm involves: 129S4/SvJaeSor * C57BL/6J MGI:2172354


Genotype
MGI:3587784
ht1
Allelic
Composition
Pitx2tm2Jfm/Pitx2tm2.1Jfm
Genetic
Background
involves: 129S4/SvJaeSor
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pitx2tm2.1Jfm mutation (0 available); any Pitx2 mutation (15 available)
Pitx2tm2Jfm mutation (0 available); any Pitx2 mutation (15 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
skeleton
• orientation of the molars is abnormal

craniofacial
• orientation of the molars is abnormal

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




Genotype
MGI:3587787
ht2
Allelic
Composition
Pitx2tm1Jfm/Pitx2tm2Jfm
Genetic
Background
involves: 129S4/SvJaeSor
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pitx2tm1Jfm mutation (1 available); any Pitx2 mutation (15 available)
Pitx2tm2Jfm mutation (0 available); any Pitx2 mutation (15 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
skeleton
• molars arrest prior to cap formation

craniofacial
• molars arrest prior to cap formation

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

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




Genotype
MGI:2172354
ht3
Allelic
Composition
Pitx2tm1Jfm/Pitx2tm2Jfm
Genetic
Background
involves: 129S4/SvJaeSor * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pitx2tm1Jfm mutation (1 available); any Pitx2 mutation (15 available)
Pitx2tm2Jfm mutation (0 available); any Pitx2 mutation (15 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging

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





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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
05/17/2016
MGI 6.03
The Jackson Laboratory