embryo
• embryos are arrested before progressing to an egg-cylinder
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• in vitro outgrowths lack an 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)
• RNA seq on in vitro outgrowths (E3.5 + 72 h in culture) showed alterations in expression of many pluripotency-associated genes
(J:348275)
• however, trophoblast giant cells, derived from the trophectoderm, appear phenotypically normal and NANOG+ and SOX17+ cell populations and specificity are normal
(J:348275)
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mortality/aging
IMPC - UCD
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IMPC - UCD
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• embryos exhibit peri-implantation lethality; embryos are recovered at Mendelian ratios and appear as morphologically normal blastocysts at E3.5 but are not present at E7.5
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reproductive system
• in vitro, blastocysts do hatch from the zona pellucida but form irregular outgrowths with no obvious ICM colony but normal NANOG+ and SOX17+ cells after 3 days in culture
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• 14 of 45 (31%) 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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