Phenotypes associated with this allele

• Allele Symbol: Smad2^m1Mag
• Allele Name: mutation 1, Terry Magnuson
• Allele ID: MGI:2447199
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Smad2^m1Mag/Smad2^m1Mag	either: (involves: 129S/Sv * Black Swiss) or (involves: 129S/Sv * C57BL/6)	MGI:3713864
ht2	Smad2^m1Mag/Smad2^+	either: (involves: 129S/Sv * Black Swiss) or (involves: 129S/Sv * C57BL/6)	MGI:3713863
ht3	Smad2^m1Mag/Smad2^tm1Rob	either: (involves: 129S/Sv * 129S/SvEv * Black Swiss) or (involves: 129S/Sv * 129S/SvEv * C57BL/6)	MGI:3713865

Genotype
MGI:3713864

hm1

• 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

Genotype
MGI:3713863

ht2

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

normal phenotype

no abnormal phenotype detected ( J:80520 )

• animals appear normal

Genotype
MGI:3713865

ht3

• Allelic Composition: Smad2^m1Mag/Smad2^tm1Rob
• Genetic Background: either: (involves: 129S/Sv * 129S/SvEv * Black Swiss) or (involves: 129S/Sv * 129S/SvEv * C57BL/6)

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:80520 )

• only empty yolk sacs are found at E11.5

embryo

abnormal embryonic tissue morphology ( J:80520 )

• at E11.5, no embryonic portion is present in highly developed yolk sac