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 cornea 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 (39 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 (39 available)
Pitx2^tm4(cre)Jfm mutation (1 available); any Pitx2 mutation (39 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 (39 available)
Pitx2^tm2Jfm mutation (0 available); any Pitx2 mutation (39 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 (39 available)
Pitx2^tm2.1Jfm mutation (0 available); any Pitx2 mutation (39 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)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 12/10/2024 MGI 6.24