mortality/aging
|
• viability after birth is reduced to 30%
|
embryo
|
• 8% reduction in weight at E14.5
|
|
• increase in the junctional zone
|
|
• spongiotrophoblasts have more diploid DNA content at E14.5
|
|
• placentas are 9% heavier at E14.5
|
|
• elevated gammaH2A.X signalling indicating decreased DNA repair and persistence of DNA damage in trophoblast giant cells and spongiotrophoblasts but not in glycogen cells in the placenta
• at E14.5 but not E9.5 elevated signals of senescence are seen in spongiotrophoblasts
|
cellular
|
• spongiotrophoblasts have more diploid DNA content at E14.5
|
|
• elevated gammaH2A.X signalling indicating decreased DNA repair and persistence of DNA damage in trophoblast giant cells and spongiotrophoblasts but not in glycogen cells in the placenta
|
limbs/digits/tail
|
• reduced forelimb length at E14.5
|
growth/size/body
|
• 8% reduction in weight at E14.5
|
homeostasis/metabolism
|
• elevated gammaH2A.X signalling indicating decreased DNA repair and persistence of DNA damage in trophoblast giant cells and spongiotrophoblasts but not in glycogen cells in the placenta
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
Cornelia de Lange syndrome 5 | DOID:0080509 |
OMIM:300882 |
J:297059 |