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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Smad2tm1Rob
targeted mutation 1, Elizabeth J Robertson
MGI:1857691
Summary 5 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Smad2tm1Rob/Smad2tm1Rob involves: 129S/SvEv MGI:2182587
ht2
 		Smad2m1Mag/Smad2tm1Rob either: (involves: 129S/Sv * 129S/SvEv * Black Swiss) or (involves: 129S/Sv * 129S/SvEv * C57BL/6) MGI:3713865
ht3
 		Smad2tm1Rob/Smad2tm2.1Rob involves: 129S/SvEv * 129S4/SvJae * C57BL/6 * CD-1 MGI:3689503
cn4
 		Smad2tm1Rob/Smad2tm2Rob
Edil3Tg(Sox2-cre)1Amc/Edil3+ 		involves: 129S/SvEv * C57BL/6 * CBA * CD-1 MGI:2668417
cn5
 		Smad2tm1Rob/Smad2tm2Rob
Smad3tm1Xfw/Smad3+
Edil3Tg(Sox2-cre)1Amc/Edil3+ 		involves: 129/Sv * 129S/SvEv * C57BL/6 * CBA * CD-1 MGI:3689505


Genotype
MGI:2182587
hm1
Allelic
Composition		 Smad2tm1Rob/Smad2tm1Rob
Genetic
Background		 involves: 129S/SvEv
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Smad2tm1Rob mutation (0 available); any Smad2 mutation (50 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging

embryo
abnormal rostral-caudal axis patterning ( J:46532 )
• by examining for the presence of numerous developmental molecular markers, it appears that the epiblast no longer has a distinct polarity and instead seems to have defaulted to an entire posterior character
• the anterior region which normally develops into neuroectoderm is diverted to posterior mesoderm, demonstrating a role for Smad2 in establishing proper anteroposterior polarity
abnormal embryonic tissue morphology ( J:46532 )
• at E8.5, the extraembryonic tissues (ectoplacental cone, Reicherts membrane, allantois, and visceral yolk sac) are present and normal, but the embryo proper is absent
• no node tissue nor axial mesoderm derivatives can be detected
abnormal embryonic epiblast morphology ( J:46532 )
• epiblast lacks a uniform morphology
• epiblast exclusively forms extraembryonic mesoderms and fails to give rise to the three primary germ layers
absent ectoderm ( J:46532 )
• epiblast fails to give rise to the ectoderm
absent endoderm ( J:46532 )
• epiblast fails to give rise to the definitive endoderm
absent mesoderm ( J:46532 )
• epiblast fails to give rise to the mesoderm
absent primitive node ( J:46532 )
• no node tissue can be detected
abnormal chorion morphology ( J:46532 )
• chorion appears highly folded and misplaced, situated laterally and distally instead of proximally, however at later stages, chorion assumes a more normal location




Genotype
MGI:3713865
ht2
Allelic
Composition		 Smad2m1Mag/Smad2tm1Rob
Genetic
Background		 either: (involves: 129S/Sv * 129S/SvEv * Black Swiss) or (involves: 129S/Sv * 129S/SvEv * C57BL/6)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Smad2m1Mag mutation (0 available); any Smad2 mutation (50 available)
Smad2tm1Rob mutation (0 available); any Smad2 mutation (50 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
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




Genotype
MGI:3689503
ht3
Allelic
Composition		 Smad2tm1Rob/Smad2tm2.1Rob
Genetic
Background		 involves: 129S/SvEv * 129S4/SvJae * C57BL/6 * CD-1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Smad2tm1Rob mutation (0 available); any Smad2 mutation (50 available)
Smad2tm2.1Rob mutation (0 available); any Smad2 mutation (50 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging

embryo
abnormal embryonic tissue morphology ( J:84300 )
• at E9.5, embryo is composed of only extraembryonic tissues, phenocopying Smad2tm1Rob homozygotes




Genotype
MGI:2668417
cn4
Allelic
Composition		 Smad2tm1Rob/Smad2tm2Rob
Edil3Tg(Sox2-cre)1Amc/Edil3+
Genetic
Background		 involves: 129S/SvEv * C57BL/6 * CBA * CD-1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Edil3Tg(Sox2-cre)1Amc mutation (5 available); any Edil3 mutation (42 available)
Smad2tm1Rob mutation (0 available); any Smad2 mutation (50 available)
Smad2tm2Rob mutation (1 available); any Smad2 mutation (50 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
embryo
abnormal rostral-caudal axis patterning ( J:84300 )
• at E8.5, rostral neurectoderm tissue is reduced in size
• at E9.5, anterior neurectoderm fails to proliferate and is filled with pyknotic nuclei
abnormal anterior definitive endoderm morphology ( J:84300 )
• there are reduced numbers of anterior definitive endoderm (ADE) cells

digestive/alimentary system
truncated foregut ( J:84300 )
• gut tube forms but is poorly elaborated in anterior region; instead of extending to level of Rathke's pouch like wild-type, no gut tissue is evident at this level in mutants and is absent anterior to level of heart

cardiovascular system
abnormal heart looping ( J:84300 )
• heart tube is abnormally looped
pericardial edema ( J:84300 )
• pericardium is often edematous
enlarged pericardium ( J:84300 )
• pericardium is often enlarged

nervous system
absent midbrain ( J:84300 )
• embryos lack all prospective midbrain tissue
absent forebrain ( J:84300 )
• embryos lack all prospective forebrain tissue

homeostasis/metabolism
pericardial edema ( J:84300 )
• pericardium is often edematous




Genotype
MGI:3689505
cn5
Allelic
Composition		 Smad2tm1Rob/Smad2tm2Rob
Smad3tm1Xfw/Smad3+
Edil3Tg(Sox2-cre)1Amc/Edil3+
Genetic
Background		 involves: 129/Sv * 129S/SvEv * C57BL/6 * CBA * CD-1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Edil3Tg(Sox2-cre)1Amc mutation (5 available); any Edil3 mutation (42 available)
Smad2tm1Rob mutation (0 available); any Smad2 mutation (50 available)
Smad2tm2Rob mutation (1 available); any Smad2 mutation (50 available)
Smad3tm1Xfw mutation (0 available); any Smad3 mutation (18 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
embryo
rostral body truncation ( J:84300 )
• embryos develop severe anterior truncations at E8.5
fused somites ( J:84300 )
• somites are fused across the midline at E8.5

digestive/alimentary system
absent foregut ( J:84300 )
• anterior gut is absent

cardiovascular system
abnormal heart development ( J:84300 )
• embryos develop heart malformations at E8.5




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Send questions and comments to User Support. 		last database update
04/16/2024
MGI 6.23 		The Jackson Laboratory