Phenotypes Associated with This Genotype

Genotype
MGI:3713864

• Allelic Composition: Smad2^m1Mag/Smad2^m1Mag
• Genetic Background: either: (involves: 129S/Sv * Black Swiss) or (involves: 129S/Sv * C57BL/6)

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

mortality/aging

embryonic lethality, complete penetrance ( J:80520 )

• in some instances (54%), only empty yolk sacs are found at E9.5

• the remainder show more advanced development, but died later

embryo

rostral body truncation ( J:80520 )

• anterior structures consist of a truncated mass, often with unfolded neural plate and absent optic placodes

abnormal embryonic tissue morphology ( J:80520 )

• occasionally, a malformed embryonic structure is present at distal portion of yolk sac, but many (46%) display more advanced development, with epiblast-derived structures such as a heart, tail bud, allantois, and somites observed

absent notochord ( J:80520 )

failure of chorioallantoic fusion ( J:80520 )

• in the more advanced embryos (46%), allantois fails to fuse to the chorion, resulting in allantoic tissue protruding from posterior of embryo

cardiovascular system

abnormal dorsal aorta morphology ( J:80520 )

• dorsal aorta is highly constricted or lacks a lumen like that found in wild-type embryos

abnormal heart development ( J:80520 )

• mutants with fused heart tubes have expanded pericardial cavities

abnormal heart tube morphology ( J:80520 )

• mutants display fused heart tubes

digestive/alimentary system

absent foregut ( J:80520 )

• foregut is absent in embryos

vision/eye

absent optic placodes ( J:80520 )

• often absent