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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 (38 available)
Pitx2tm2Jfm mutation (0 available); any Pitx2 mutation (38 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
craniofacial
abnormal molar morphology ( J:87220 )
• orientation of the molars is abnormal

growth/size/body
abnormal molar morphology ( J:87220 )
• orientation of the molars is abnormal

skeleton
abnormal molar morphology ( J:87220 )
• 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 (38 available)
Pitx2tm2Jfm mutation (0 available); any Pitx2 mutation (38 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
craniofacial
arrest of tooth development ( J:87220 )
• molars arrest prior to cap formation

growth/size/body
arrest of tooth development ( J:87220 )
• molars arrest prior to cap formation

skeleton
arrest of tooth development ( J:87220 )
• molars arrest prior to cap formation

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
Axenfeld-Rieger syndrome type 1 DOID:0110120 OMIM: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 (38 available)
Pitx2tm2Jfm mutation (0 available); any Pitx2 mutation (38 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging

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




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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
04/30/2024
MGI 6.23 		The Jackson Laboratory