Phenotypes Associated with This Genotype

Genotype
MGI:2182498

• Allelic Composition: Smad2^tm1Enl/Smad2⁺; Nodal^tm1Rob/Nodal⁺
• Genetic Background: involves: 129S/SvEv * 129S4/SvJae

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

embryo

abnormal gastrulation ( J:48467 )

• at E9.5 11 of 20 embryos had gastrulation defects similar to those in Smad2 single heterozygotes

abnormal direction of embryo turning ( J:48467 )

• 3 of 20 turn in the opposite direction compared to wild-type mice

abnormal left-right axis patterning ( J:48467 )

• 32% (8 of 25) have defects in left-right patterning

rostral body truncation ( J:48467 )

• in the most severe cases the rostral head and eyes are truncated

abnormal lateral plate mesoderm morphology ( J:48467 )

• in affected embryos lateral plate mesoderm is restricted to the posterior region

cardiovascular system

abnormal heart looping ( J:48467 )

• 3 of 20 have abnormal heart looping

transposition of great arteries ( J:48467 )

• most common cardiac defect in embryos with left-right patterning abnormalities

growth/size/body

right pulmonary isomerism ( J:48467 )

• seen in 6 of 25 embryos, these mice also have transposition of the great arteries

craniofacial

abnormal craniofacial morphology ( J:48467 )

• at E15.5 - E17.5 severe craniofacial defects are seen in 14 of 25 mutants

vision/eye

cyclopia ( J:48467 )

• present at E15.5 - E17.5 in 9 of 25

respiratory system

right pulmonary isomerism ( J:48467 )

• seen in 6 of 25 embryos, these mice also have transposition of the great arteries