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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Pitx2tm2.1Jfm
targeted mutation 2.1, James F Martin
MGI:2136271
Summary 5 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Pitx2tm2.1Jfm/Pitx2tm2.1Jfm involves: 129S4/SvJaeSor MGI:3587783
hm2
 		Pitx2tm2.1Jfm/Pitx2tm2.1Jfm involves: 129S4/SvJaeSor * C57BL/6J MGI:3587781
ht3
 		Pitx2tm2.1Jfm/Pitx2tm3.1Jfm involves: 129S4/SvJaeSor MGI:3587782
ht4
 		Pitx2tm2Jfm/Pitx2tm2.1Jfm involves: 129S4/SvJaeSor MGI:3587784
ht5
 		Pitx2tm1Jfm/Pitx2tm2.1Jfm involves: 129S4/SvJaeSor * C57BL/6J MGI:2172355


Genotype
MGI:3587783
hm1
Allelic
Composition		 Pitx2tm2.1Jfm/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)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
craniofacial
craniofacial phenotype ( J:87220 )
N
• tooth development is normal




Genotype
MGI:3587781
hm2
Allelic
Composition		 Pitx2tm2.1Jfm/Pitx2tm2.1Jfm
Genetic
Background		 involves: 129S4/SvJaeSor * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pitx2tm2.1Jfm mutation (0 available); any Pitx2 mutation (38 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
postnatal lethality, incomplete penetrance ( J:69854 )
• about 21% of homozygotes die postnatally

cardiovascular system
cardiovascular system phenotype ( J:69854 )
N
• heart development including outflow tract morphology and atrial pectinate trabeculation are normal

respiratory system
right pulmonary isomerism ( J:69854 )
• about 83% of homozygous neonates have an extra fissure between what would be the cranial and middle lobes; however the initial branching pattern of the lung buds is similar to wild-type

digestive/alimentary system
abnormal digestive system development ( J:69854 )
• in 87% of homozygous neonates the midgut fails to rotate resulting in right-sided midgut mass while in the rest rotation arrest midway through the rotation; however rotation of the duodenum is normal in 88% of homozygotes
abnormal intestine morphology ( J:69854 )
• malrotation of the midgut may result in a twisted and obstructed intestine (volvulus) or bowel infarction

vision/eye

craniofacial

growth/size/body
cleft palate ( J:69854 )
right pulmonary isomerism ( J:69854 )
• about 83% of homozygous neonates have an extra fissure between what would be the cranial and middle lobes; however the initial branching pattern of the lung buds is similar to wild-type




Genotype
MGI:3587782
ht3
Allelic
Composition		 Pitx2tm2.1Jfm/Pitx2tm3.1Jfm
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)
Pitx2tm3.1Jfm mutation (0 available); any Pitx2 mutation (38 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
craniofacial
craniofacial phenotype ( J:87220 )
N
• tooth development is normal




Genotype
MGI:3587784
ht4
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:2172355
ht5
Allelic
Composition		 Pitx2tm1Jfm/Pitx2tm2.1Jfm
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)
Pitx2tm2.1Jfm 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 83% rotation of the duodenum is reversed and in the rest rotation is normal

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




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Send questions and comments to User Support. 		last database update
05/07/2024
MGI 6.23 		The Jackson Laboratory