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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Pitx2tm1Jfm
targeted mutation 1, James F Martin
MGI:2136268
Summary 6 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Pitx2tm1Jfm/Pitx2tm1Jfm involves: 129S4/SvJaeSor MGI:2172351
ht2
Pitx2tm1Jfm/Pitx2+ involves: 129S4/SvJaeSor MGI:2172410
ht3
Pitx2tm1Jfm/Pitx2tm4(cre)Jfm involves: 129S4/SvJaeSor MGI:3587785
ht4
Pitx2tm1Jfm/Pitx2tm2Jfm involves: 129S4/SvJaeSor MGI:3587787
ht5
Pitx2tm1Jfm/Pitx2tm2Jfm involves: 129S4/SvJaeSor * C57BL/6J MGI:2172354
ht6
Pitx2tm1Jfm/Pitx2tm2.1Jfm involves: 129S4/SvJaeSor * C57BL/6J MGI:2172355


Genotype
MGI:2172351
hm1
Allelic
Composition
Pitx2tm1Jfm/Pitx2tm1Jfm
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)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• some loss of homozygous embryos is seen initially at E14.5

embryo
• turning arrests suspending the lower trunk to the right of the upper trunk and about 10% of homozygotes have delayed turning

cardiovascular system
• the left superior caval vein is absent at E11.5 and E12.5
• at E10.5 the outflow tract is distorted dorsally and rightward (J:57674)
• at E11.5 the outflow tract has a larger than normal lumen with symmetrical cushions (J:69854)
• at E12.5 the outflow tract cushions are poorly aligned, the distal portion of the outflow tract is not septated, and the arterial trunks are poorly aligned (J:69854)
• at E10.5 the atrioventricular canal is distorted dorsally and rightward
• at E12.5 the atrioventricular cushions have not fused and there is a common atrioventricular junction
• all homozygotes have defects in ventriculoarterial connections including double outlet right ventricle
• all homozygotes have defects in ventriculoarterial connections including double outlet right ventricle and some have a common atrioventricular channel
• at E11.5 the pulmonary vein is abnormally connected to the right sinus horn of the heart and venous valves are located on the right and left
• at E12.5 the pulmonary vein has exits to both the right and left side of the heart
• all homozygotes have defects in ventriculoarterial connections including double outlet right ventricle and some have a common atrioventricular channel
• at E11.5 the dorsal left atrium is more extensively trabeculated than the right atrium, opposite to what is seen in wild-type embryos
• at E11.5 the primary interatrial septum is just a stub and at E12.5 it is truncated
• the defects seen in the heart are similar to those in humans with right atrial isomerism
• at E12.5 the hears is in a ventral, left-sided location with the apex directed cranially and rightward

vision/eye
• absent extraocular muscles
• in place of a cornea homozygotes have undifferentiated mesenchymal cells
• the anterior eye chamber is absent

digestive/alimentary system
• the abdominal contents form ventrally, inferior to the heart and to the left of the body axis (J:57674)
• in about 72% of homozygotes rotation of the duodenum does not occur and in about 17% rotation is reversed (J:69854)

craniofacial
• the mandibular facial prominence is abnormal
• the maxillary facial prominence is abnormal
• mandibular teeth arrest as tooth buds and maxillary teeth arrest at the placode stage (J:57674)
• variable deficiency of the Meckel's cartilage is seen

immune system

respiratory system
• the lungs form ventrally, inferior to the heart and to the left of the body axis and at E12.5 right pulmonary isomerism is seen; however the stomach maintains its left-sided normal morphology (J:57674)
• evident at the primary lung bud stage (E9.0) and the left-sided branching pattern is identical to that of the right lung bud (J:69854)

muscle
• absent extraocular muscles

skeleton
• the mandibular facial prominence is abnormal
• the maxillary facial prominence is abnormal
• mandibular teeth arrest as tooth buds and maxillary teeth arrest at the placode stage (J:57674)
• variable deficiency of the Meckel's cartilage is seen

hematopoietic system

growth/size/body
• the defects seen in the heart are similar to those in humans with right atrial isomerism
• mandibular teeth arrest as tooth buds and maxillary teeth arrest at the placode stage (J:57674)
• at E10.5 in homozygotes in which turning is minimally affected a patent umbilical ring and evisceration of the abdominal contents are seen
• the lungs form ventrally, inferior to the heart and to the left of the body axis and at E12.5 right pulmonary isomerism is seen; however the stomach maintains its left-sided normal morphology (J:57674)
• evident at the primary lung bud stage (E9.0) and the left-sided branching pattern is identical to that of the right lung bud (J:69854)

Mouse Models of Human Disease
OMIM ID Ref(s)
Axenfeld-Rieger Syndrome, Type 1; RIEG1 180500 J:57674 , J:87220




Genotype
MGI:2172410
ht2
Allelic
Composition
Pitx2tm1Jfm/Pitx2+
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)
phenotype observed in females
phenotype observed in males
N normal phenotype
respiratory system
• about 25% of adult heterozygotes display partial right pulmonary isomerism with an extra fissure at the cranial aspect of the left lung

cardiovascular system
• more frequent occurrence of burst pacing induced atrial arrhythmias
• in the absence of stimulus no signs of atrial arrhythmia are detected
• more frequent occurrence of burst pacing induced atrial fibrillations
• in the absence of stimulus no signs of atrial fibrillation are detected
• slight but significant prolongation of the QRS interval under baseline conditions

digestive/alimentary system
N
• rotation of the duodenum is normal

growth/size/body
• about 25% of adult heterozygotes display partial right pulmonary isomerism with an extra fissure at the cranial aspect of the left lung




Genotype
MGI:3587785
ht3
Allelic
Composition
Pitx2tm1Jfm/Pitx2tm4(cre)Jfm
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)
Pitx2tm4(cre)Jfm mutation (1 available); any Pitx2 mutation (15 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular
• mutant daughter cells move aberrantly in a dorsal direction out of the oral ectoderm, fail to populate the nasal process, and contribute fewer cells to the oral cavity roof compared to wild-type mice




Genotype
MGI:3587787
ht4
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
ht5
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




Genotype
MGI:2172355
ht6
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 (15 available)
Pitx2tm2.1Jfm 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 83% rotation of the duodenum is reversed and in the rest rotation is normal

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





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last database update
07/19/2016
MGI 6.04
The Jackson Laboratory