mortality/aging
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• crosses of heterozygous mice yield several healthy and fertile homozygous males at sub-Mendelian ratios; however, no homozygous females are found at weaning
• crosses of homozygous males with heterozygous females yield offspring with a skewed sex ratio in favor of males, due to female-specific embryonic lethality
• overall, all crosses yield only 7 homozygous females against a total of 48 homozygous males
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• crosses of homozygous males with heterozygous females indicate incomplete embryonic lethality with a dramatic loss of female embryos and preferential survival of males albeit at a lower-than-expected rate
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growth/size/body
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• at E10.5-E12.5, embryos of both sexes exhibit highly variable developmental delay; some male embryos appear similar to control heterozygous embryos
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embryo
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• female embryos recovered at E10.5-E12.5 show frequent arrest before E10.5
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• at E10.5-E12.5, embryos of both sexes exhibit highly variable developmental delay; some male embryos appear similar to control heterozygous embryos
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reproductive system
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• rare females fail to produce offspring
• however, surviving males are generally fertile
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cellular
| N |
• mouse embryonic fibroblasts (MEFs) isolated from E11.5 female embryos show histone H3 tri-methyl lysine 27 (H3K27me3) foci and Xist clusters comparable to controls, suggesting normal initiation of X-chromosome inactivation (XCI)
• moreover, H4K16ac (a histone modification associated with active chromatin) is depleted from the Xist domains, indicating that Xist forms a repressive compartment
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