Mouse Genome Informatics
hm1
    Pitx2tm1Rsd/Pitx2tm1Rsd
involves: 129S1/Sv * 129X1/SvJ
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• initial embryonic lethality is seen at E9.5-10.25 in about 35% of mutants
• continual attrition of mutants with survival up to E15

embryogenesis
• about 30% of E12.5-E13.5 mutants exhibit gross dorsal, rather than ventral, axial posterior turning; about 70% have axial defects
• about 50% exhibit an arrest in turning of the posterior part of the tail by E9-E10
• hypoplasia of the urogenital system
• hypoplasia of the axial mesoderm

cardiovascular system
• failure to septate the enlarged single atrium
• about 50% of E10 mutants exhibit positioning of the heart on the right rather than the midline
• heart shows variable hypoplasia of the ventricles with occasionally incomplete fusion

digestive/alimentary system
• at E12, stomach often turns to the left, rather than to the right

endocrine/exocrine glands
• formation of Rathke's pouch is normal, however cell content is decreased by E10.5
• hypoplastic by E12.5 and beyond

skeleton
• hypoproliferation of the periorbital musculature
• hypoproliferation of the mandible
• about 70% of embryos surviving to E13.5 maintain a posterior lordosis, with variable severity

growth/size/body
• 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
• by E12, both thoracic and abdominal organs are positioned externally
• failure to close ventral body wall and thorax that is apparent by E9.5
• both lungs invariably exhibit a right pattern

hematopoietic system
• hypoproliferation of spleen

immune system
• hypoproliferation of spleen

liver/biliary system
• hypoproliferation of liver

vision/eye
• hypoproliferation of the periorbital musculature
• hypoplasia of the ventral body-wall splanchnic mesoderm
• hypoproliferation of the lens

respiratory system
• both lungs invariably exhibit a right pattern

craniofacial
• hypoproliferation of the periorbital musculature
• hypoproliferation of the mandible
• 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

nervous system
• formation of Rathke's pouch is normal, however cell content is decreased by E10.5
• hypoplastic by E12.5 and beyond

muscle
• hypoplasia of the ventral body-wall splanchnic mesoderm

Mouse Models of Human Disease
OMIM IDRef(s)
Axenfeld-Rieger Syndrome, Type 1; RIEG1 180500 J:57673