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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Smad4tm1Mak
targeted mutation 1, Tak Mak
MGI:1858049
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Smad4tm1Mak/Smad4tm1Mak either: (involves: 129P2/OlaHsd * C57BL/6J) or (involves: 129P2/OlaHsd * C57BL/6J * CD-1) MGI:2182741


Genotype
MGI:2182741
hm1
Allelic
Composition
Smad4tm1Mak/Smad4tm1Mak
Genetic
Background
either: (involves: 129P2/OlaHsd * C57BL/6J) or (involves: 129P2/OlaHsd * C57BL/6J * CD-1)
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Smad4tm1Mak mutation (1 available); any Smad4 mutation (48 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• die at or before E7.5
• by E8.5, most embryos are in resorption or degenerating within the yolk sac

embryo
• 35% of embryos at E6.5 show a reduced ectoderm region
• in vitro differentiation of the mesoderm in ES cells is impaired
• due to impaired visceral endoderm function
• rescue of gastrulation defects by complementation with tetraploid embryonic cells results in chimeric embryos with mesoderm-derived tissue that show impaired anterior development/anterior truncations at E8.5
• development is arrested at the onset of gastrulation
• at E5.5, the embryonic region is reduced in size
• by E6.5, the embryonic region is reduced and poorly developed but displays a proamniotic cavity
• no histological signs of mesoderm development at E6.5
• failure to form mesoderm is confirmed by the absence of mesodermal markers
• embryos have a poorly defined boundary between the embryonic and the extraembryonic regions
• extraembryonic region appears disorganized
• poorly organized visceral endoderm at E5.5
• visceral endoderm development is abnormal and in vitro differentiation of the visceral endoderm in ES cells is impaired

growth/size/body

cellular
• reduced cell proliferation in embryos at E6.5, as shown by BrdU staining





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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory