mortality/aging
• homozygotes are present at the expected Mendelian ratios at E9.5 but die by E10.5
|
embryo
• homozygous mutant embryos are often abnormally positioned within the yolk sac
|
• at E9.5-E10.0, a subset of homozygotes exhibit incomplete embryo turning
|
• at E7.0, homozygotes display extensive twisting of the newly formed mesoderm along the proximodistal axis
|
• homozygous mutant embryos are often smaller than wild-type embryos
|
• by E7.0, homozygotes display extensive twisting of the epiblast along the proximodistal axis
|
• homozygotes display severe distortion of the embryonic region
|
• at E8.0, homozygotes exhibit absence of a recognizable allantoic bud; only a small allantoic rudiment is observed at E8.5
• by E9.5, three allantois phenotypes are observed: a balloon-like structure with peripheral blood-filled vessels; a dense structure filled with compact mesenchyme and small blood-filled sacs; occasionally, an allantoic rudiment that fuses peripherally and non-uniformly with the chorionic surface of the placenta
|
• at E8.5, homozygotes show overproliferation of chorionic tissue, as well as aberrant folding of the chorion within the exocoelomic cavity and defective proximal migration
|
• homozygotes fail to establish a functional placental connection
|
• homozygotes fail to form the umbilical connection to the placenta
|
• occasionally, an allantoic rudiment fuses peripherally and non-uniformly with the chorionic surface of the placenta
|
• at E7.0, homozygotes exhibit a localized outpocketing of the visceral endoderm at the posterior embryonic/extraembryonic junction
• despite ruffling of the visceral endoderm at E8.0-E8.5, the emerging AP axis is symmetrical, headfolds and somites form, gross visceral yolk sac morphology and mesoderm appear normal, and the node is clearly defined
|
reproductive system
• at E8.5, homozygotes show a significant reduction in the number of primordial germ cells
• 6 of 14 (43%) have no PGCs, 5 of 14 (36%) have fewer than ten and 3 of 14 (21%) have less than 25
|
cardiovascular system
• at E9.5-E10.0, a subset of homozygotes exhibit a distended pericardium
|
growth/size/body
• homozygous mutant embryos are often smaller than wild-type embryos
|
• at E9.5-E10.0, a subset of homozygotes exhibit delayed ventral closure
|
cellular
• at E8.5, homozygotes show a significant reduction in the number of primordial germ cells
• 6 of 14 (43%) have no PGCs, 5 of 14 (36%) have fewer than ten and 3 of 14 (21%) have less than 25
|