embryo
• embryos are arrested before progressing to an egg-cylinder
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• NANOG (an epiblast maker) is mis-expressed (no longer confined to the epiblast)
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• blastocysts exhibit fewer SOX17+ cells
(J:279207)
• number of SOX17+ cells (marking the primitive endoderm) is significantly reduced
(J:348275)
|
• embryos show aberrant lineage specification within the inner cell mass at the blastocyst stage
|
• in vitro outgrowth assays ahow no obvious ICM colony after 3 days in culture
(J:279207)
• blastocysts fail to form a conspicuous ICM colony after 3 days in culture, suggesting loss of pluripotent cells during in vitro outgrowth
(J:348275)
• however, trophoblast giant cells, derived from the trophectoderm, appear phenotypically normal
(J:348275)
|
• blastocysts show aberrant NANOG expression in trophectoderm cells
(J:279207)
• intensity of CDX2 (a trophectoderm marker) is significantly lower than in controls
(J:348275)
|
mortality/aging
IMPC - JAX
|
• normal looking blastocysts can be recovered at E3.5 (16% versus expected 25%, n=280); no homozygous embryos are recovered at E7.5
(J:279207)
• homozygous embryos exhibit peri-implantation lethality; although morphologically normal blastocysts are present at E3.5, no embryos are recovered at E7.5
(J:348275)
|
reproductive system
• in vitro, blastocysts hatch from the zona pellucida but form irregular outgrowths after 3 days in culture
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• 17 of 61 (28%) decidua from heterozygous crosses are empty at E6.5 and E7.5
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• embryos exhibit a failure to implant post-blastocyst formation
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