Phenotypes Associated with This Genotype

Genotype
MGI:3622905

• Allelic Composition: Pitx2^tm1Rsd/Pitx2^tm1Rsd
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

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

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:57673 )

• continual attrition of mutants with survival up to E15

embryonic lethality during organogenesis, incomplete penetrance ( J:57673 )

• initial embryonic lethality is seen at E9.5-10.25 in about 35% of mutants

embryo

abnormal developmental patterning ( J:57673 )

• about 30% of E12.5-E13.5 mutants exhibit gross dorsal, rather than ventral, axial posterior turning; about 70% have axial defects

incomplete embryo turning ( J:57673 )

• about 50% exhibit an arrest in turning of the posterior part of the tail by E9-E10

abnormal embryonic tissue morphology ( J:57673 )

• hypoplasia of the urogenital system

axial mesoderm hypoplasia ( J:57673 )

• hypoplasia of the axial mesoderm

cardiovascular system

common atrium ( J:57673 )

• failure to septate the enlarged single atrium

dextrocardia ( J:57673 )

• about 50% of E10 mutants exhibit positioning of the heart on the right rather than the midline

ventricular hypoplasia ( J:57673 )

• heart shows variable hypoplasia of the ventricles with occasionally incomplete fusion

digestive/alimentary system

abnormal stomach position or orientation ( J:57673 )

• at E12, stomach often turns to the left, rather than to the right

endocrine/exocrine glands

abnormal pituitary gland development ( J:57673 )

• formation of Rathke's pouch is normal, however cell content is decreased by E10.5

pituitary gland hypoplasia ( J:57673 )

• hypoplastic by E12.5 and beyond

skeleton

arrest of tooth development ( J:57673 )

• the tooth bud does not progress beyond initiation

• by E14.5, there is only some minimal condensation of overlying mesenchyme and proliferation of oral ectoderm

abnormal mandible morphology ( J:57673 )

• hypoproliferation of the mandible

lordosis ( J:57673 )

• about 70% of embryos surviving to E13.5 maintain a posterior lordosis, with variable severity

growth/size/body

arrest of tooth development ( J:57673 )

• the tooth bud does not progress beyond initiation

• by E14.5, there is only some minimal condensation of overlying mesenchyme and proliferation of oral ectoderm

abnormal facial muscle morphology ( J:57673 )

• hypoproliferation of the periorbital musculature

abnormal periorbital region morphology ( J:57673 )

• hypoproliferation of the periorbital musculature

thoracoabdominoschisis ( J:57673 )

• by E12, both thoracic and abdominal organs are positioned externally

abnormal ventral body wall morphology ( J:57673 )

• failure to close ventral body wall and thorax that is apparent by E9.5

right pulmonary isomerism ( J:57673 )

• both lungs invariably exhibit a right pattern

hematopoietic system

abnormal spleen morphology ( J:57673 )

• hypoproliferation of spleen

immune system

abnormal spleen morphology ( J:57673 )

• hypoproliferation of spleen

liver/biliary system

abnormal liver morphology ( J:57673 )

• hypoproliferation of liver

vision/eye

abnormal extraocular muscle morphology ( J:57673 )

• hypoplasia of the ventral body-wall splanchnic mesoderm

abnormal lens morphology ( J:57673 )

• hypoproliferation of the lens

respiratory system

right pulmonary isomerism ( J:57673 )

• both lungs invariably exhibit a right pattern

craniofacial

arrest of tooth development ( J:57673 )

• the tooth bud does not progress beyond initiation

• by E14.5, there is only some minimal condensation of overlying mesenchyme and proliferation of oral ectoderm

abnormal mandible morphology ( J:57673 )

• hypoproliferation of the mandible

abnormal facial muscle morphology ( J:57673 )

• hypoproliferation of the periorbital musculature

abnormal periorbital region morphology ( J:57673 )

• hypoproliferation of the periorbital musculature

nervous system

abnormal pituitary gland development ( J:57673 )

• formation of Rathke's pouch is normal, however cell content is decreased by E10.5

pituitary gland hypoplasia ( J:57673 )

• hypoplastic by E12.5 and beyond

muscle

abnormal facial muscle morphology ( J:57673 )

• hypoproliferation of the periorbital musculature

abnormal extraocular muscle morphology ( J:57673 )

• hypoplasia of the ventral body-wall splanchnic mesoderm

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Axenfeld-Rieger syndrome type 1		DOID:0110120	OMIM:180500	J:57673