About   Help   FAQ
Phenotypes Associated with This Genotype
Genotype
MGI:6446753
Allelic
Composition
Yy1tm1Yshi/Yy1tm2.1Yshi
Edil3Tg(Sox2-cre)1Amc/Edil3+
Genetic
Background
involves: 129S4/SvJae * C57BL/6 * CBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Edil3Tg(Sox2-cre)1Amc mutation (5 available); any Edil3 mutation (43 available)
Yy1tm1Yshi mutation (0 available); any Yy1 mutation (35 available)
Yy1tm2.1Yshi mutation (0 available); any Yy1 mutation (35 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
embryo
• at E7.0, Nodal is ectopically expressed throughout the posterior half of the epiblast, instead of being confined to the anterior streak as in control embryos; by E7.5, Nodal is expressed throughout the posterior epiblast and streak derivates instead of being confined to the node as in control embryos
• at E7.0, Foxa2 is properly localized to the anterior visceral endoderm (AVE) but is aberrantly expressed throughout distally located streak derived cells; by E7.5, Foxa2 is inappropriately expressed in a large swath of distally located streak derived cells
• embryonic to extraembryonic signaling is impaired, resulting in aberrant morphogenetic movements during gastrulation
• definitive endoderm (DE) is specified but fails to properly integrate into the outer layer; Hex-positive DE cells fail to intercalate into the visceral endoderm (VE)
• although anterior neuroectoderm is specified, mesoderm production is severely restricted
• analysis of nascent mesoderm markers shows that Lefty2 and Fgf4 are completely absent at E7.5 while Snail and Fgf8 expression is markedly reduced with weak areas of expression confined to the distal-most mesoderm at E7.0
• pharmacological inhibition of Nodal signaling with SB505124 partially restores mesoderm production: in culture, SB505124-treated embryos show increased mesodermal-like streak derivatives, a slight increase in T expression, a marked increase in mesodermal marker transcripts (Tbx6, Twist1 and Snail), a reduction of Nodal, Cer1, Eomes and Foxa2, but no effect on the loss of Lefty2 or Fgf4, suggesting that both Nodal-dependent and Nodal-independent events contribute to the gastrulation defects
• although expression of both Cer1 and Hex is properly localized to the anterior visceral endoderm (AVE) at E7.0, expression of both genes is significantly reduced, suggesting impaired embryonic (epiblast) to extraembryonic (AVE) signaling
• at E7.0, the Otx2 expression domain is reduced and fails to become anteriorly restricted; by E7.5 Otx2 is confined to a small population of distal epiblast cells
• however, Oct4 and Sox2 expression is normal at E7.0 and E7.5, indicating that neural specification is initiated
• embryos are smaller than controls at E6.5 and E7.0
• no head folds are present at E7.5
• no morphological notochord is present at E7.5
• no morphological embryonic node is present at E7.5
• although embryos initiate gastrulation, both primitive streak (PS) formation and ingression through the streak is severely impaired
• at E7.5, a PS is present but shows a distinct accumulation of cells proximal to the streak, suggesting defects in epithelial to mesenchymal transition (EMT)
• PS derivatives fail to repress E-cadherin (CDH1) and migrate properly, unlike in wild-type embryos
• PS formation is compromised, as indicated by reduced brachyury (T) expression, loss of the mesoderm markers Lefty2, Snail and Fgf8, and excess extraembryonic and embryonic Bmp4 and Eomes
• at E7.0, the expression domain of brachyury (T) is decreased relative to controls; by E7.5, T expression has failed to extend distally, consistent with a drastic reduction in overall streak size
• E7.5 embryos exhibit an abnormal extraembryonic region
• Eomes and Bmp4 are overexpressed in the distal extraembryonic ectoderm at E7.0 and E7.5, respectively, instead of being downregulated as in control embryos
• at E7.5, a thickened HNF4A-positive visceral endoderm (VE) surrounds both the embryonic and extraembryonic tissues of the conceptus, unlike in control embryos where VE surrounds only the extraembryonic tissues, indicating an absence of the DE-mediated dispersal of VE

growth/size/body
• embryos are smaller than controls at E6.5 and E7.0


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
03/25/2025
MGI 6.24
The Jackson Laboratory