Phenotypes Associated with This Genotype

Genotype
MGI:2172351

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

• ♀: 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 )

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