All Phenotypes Pitx2<tm1Jfm> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pitx2^tm1Jfm/Pitx2^tm1Jfm	involves: 129S4/SvJaeSor	MGI:2172351
ht2	Pitx2^tm1Jfm/Pitx2⁺	involves: 129S4/SvJaeSor	MGI:2172410
ht3	Pitx2^tm1Jfm/Pitx2^tm4(cre)Jfm	involves: 129S4/SvJaeSor	MGI:3587785
ht4	Pitx2^tm1Jfm/Pitx2^tm2Jfm	involves: 129S4/SvJaeSor	MGI:3587787
ht5	Pitx2^tm1Jfm/Pitx2^tm2.1Jfm	involves: 129S4/SvJaeSor * C57BL/6J	MGI:2172355
ht6	Pitx2^tm1Jfm/Pitx2^tm2Jfm	involves: 129S4/SvJaeSor * C57BL/6J	MGI:2172354

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:69854 )

lethality throughout fetal growth and development, incomplete penetrance ( J:57674 )

• some loss of homozygous embryos is seen initially at E14.5

embryo

incomplete embryo turning ( J:57674 )

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

cardiovascular system

abnormal superior vena cava morphology ( J:69854 )

• the left superior caval vein is absent at E11.5 and E12.5

abnormal truncus arteriosus septation ( J:57674 , J:69854 )

• 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)

abnormal fetal atrioventricular canal morphology ( J:57674 )

• at E10.5 the atrioventricular canal is distorted dorsally and rightward

failure of atrioventricular cushion closure ( J:69854 )

• at E12.5 the atrioventricular cushions have not fused and there is a common atrioventricular junction

absent coronary sinus ( J:69854 )

double outlet right ventricle ( J:69854 )

• all homozygotes have defects in ventriculoarterial connections including double outlet right ventricle

double outlet right ventricle with atrioventricular septal defect ( J:69854 )

• all homozygotes have defects in ventriculoarterial connections including double outlet right ventricle and some have a common atrioventricular channel

anomalous pulmonary venous connection ( J:69854 )

• 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

common atrioventricular valve ( J:69854 )

• all homozygotes have defects in ventriculoarterial connections including double outlet right ventricle and some have a common atrioventricular channel

abnormal heart atrium morphology ( J:69854 )

• at E11.5 the dorsal left atrium is more extensively trabeculated than the right atrium, opposite to what is seen in wild-type embryos

right atrial isomerism ( J:69854 )

• the defects seen in the heart are similar to those in humans with right atrial isomerism

abnormal interatrial septum morphology ( J:69854 )

• at E11.5 the primary interatrial septum is just a stub and at E12.5 it is truncated

dextrocardia ( J:57674 )

• at E12.5 the hears is in a ventral, left-sided location with the apex directed cranially and rightward

vision/eye

absent extraocular muscles ( J:57674 )

• absent extraocular muscles

abnormal placement of pupils ( J:57674 )

irregularly shaped pupil ( J:57674 )

abnormal cornea morphology ( J:57674 )

• in place of a cornea homozygotes have undifferentiated mesenchymal cells

absent corneal endothelium ( J:57674 )

absent eye anterior chamber ( J:57674 )

• the anterior eye chamber is absent

digestive/alimentary system

cleft palate ( J:57674 )

abnormal digestive system development ( J:57674 , J:69854 )

• 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

small Meckel's cartilage ( J:87220 )

• variable deficiency of the Meckel's cartilage is seen

arrest of tooth development ( J:57674 , J:87220 )

• mandibular teeth arrest as tooth buds and maxillary teeth arrest at the placode stage (J:57674)

abnormal mandible morphology ( J:57674 )

• the mandibular facial prominence is abnormal

abnormal maxilla morphology ( J:57674 )

• the maxillary facial prominence is abnormal

cleft palate ( J:57674 )

immune system

spleen hypoplasia ( J:57674 )

respiratory system

right pulmonary isomerism ( J:57674 , J:69854 )

• 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 ( J:57674 )

• absent extraocular muscles

skeleton

small Meckel's cartilage ( J:87220 )

• variable deficiency of the Meckel's cartilage is seen

arrest of tooth development ( J:57674 , J:87220 )

• mandibular teeth arrest as tooth buds and maxillary teeth arrest at the placode stage (J:57674)

abnormal mandible morphology ( J:57674 )

• the mandibular facial prominence is abnormal

abnormal maxilla morphology ( J:57674 )

• the maxillary facial prominence is abnormal

hematopoietic system

spleen hypoplasia ( J:57674 )

growth/size/body

right atrial isomerism ( J:69854 )

• the defects seen in the heart are similar to those in humans with right atrial isomerism

arrest of tooth development ( J:57674 , J:87220 )

• mandibular teeth arrest as tooth buds and maxillary teeth arrest at the placode stage (J:57674)

cleft palate ( J:57674 )

omphalocele ( 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

right pulmonary isomerism ( J:57674 , J:69854 )

• 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		DO ID	OMIM ID(s)	Ref(s)
Axenfeld-Rieger syndrome type 1		DOID:0110120	OMIM:180500	J:57674 , J:87220

Allelic Composition	Pitx2^tm1Jfm/Pitx2⁺
Genetic Background	involves: 129S4/SvJaeSor

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pitx2^tm1Jfm mutation (1 available); any Pitx2 mutation (38 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

respiratory system

right pulmonary isomerism ( J:69854 )

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

cardiovascular system

irregular heartbeat ( J:160540 )

• more frequent occurrence of burst pacing induced atrial arrhythmias

• in the absence of stimulus no signs of atrial arrhythmia are detected

atrial fibrillation ( J:160540 )

• more frequent occurrence of burst pacing induced atrial fibrillations

• in the absence of stimulus no signs of atrial fibrillation are detected

prolonged QRS complex duration ( J:160540 )

• slight but significant prolongation of the QRS interval under baseline conditions

digestive/alimentary system

digestive/alimentary phenotype ( J:69854 )

N	• rotation of the duodenum is normal

growth/size/body

right pulmonary isomerism ( J:69854 )

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

Allelic Composition	Pitx2^tm1Jfm/Pitx2^tm4(cre)Jfm
Genetic Background	involves: 129S4/SvJaeSor

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pitx2^tm1Jfm mutation (1 available); any Pitx2 mutation (38 available)
Pitx2^tm4(cre)Jfm mutation (1 available); any Pitx2 mutation (38 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

cellular

abnormal cell migration ( J:87220 )

• 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

Allelic Composition	Pitx2^tm1Jfm/Pitx2^tm2Jfm
Genetic Background	involves: 129S4/SvJaeSor

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pitx2^tm1Jfm mutation (1 available); any Pitx2 mutation (38 available)
Pitx2^tm2Jfm 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

Allelic Composition	Pitx2^tm1Jfm/Pitx2^tm2.1Jfm
Genetic Background	involves: 129S4/SvJaeSor * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pitx2^tm1Jfm mutation (1 available); any Pitx2 mutation (38 available)
Pitx2^tm2.1Jfm mutation (0 available); any Pitx2 mutation (38 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

mortality/aging

lethality throughout fetal growth and development, incomplete penetrance ( J:69854 )

• embryo loss is first detected at E18.5

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 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

Allelic Composition	Pitx2^tm1Jfm/Pitx2^tm2Jfm
Genetic Background	involves: 129S4/SvJaeSor * C57BL/6J

Find Mice

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

mortality/aging

lethality throughout fetal growth and development, incomplete penetrance ( 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/body

right pulmonary isomerism ( J:69854 )

• the left-sided branching pattern is right isomerized

Contributing Projects: 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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