Phenotypes Associated with This Genotype

Genotype
MGI:7491951

• Allelic Composition: Hdac8^tm1.2Eno/Y
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6J

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

postnatal lethality, incomplete penetrance ( J:297059 )

♂ • viability after birth is reduced to 30%

embryo

decreased embryo weight ( J:297059 )

♂ • 8% reduction in weight at E14.5

abnormal placenta junctional zone morphology ( J:297059 )

♂ • increase in the junctional zone

abnormal spongiotrophoblast cell morphology ( J:297059 )

♂ • spongiotrophoblasts have more diploid DNA content at E14.5

increased placenta weight ( J:297059 )

♂ • placentas are 9% heavier at E14.5

abnormal placenta physiology ( J:297059 )

♂ • 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

abnormal chromosome number ( J:297059 )

♂ • spongiotrophoblasts have more diploid DNA content at E14.5

abnormal DNA repair ( J:297059 )

♂ • 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

short forelimb ( J:297059 )

♂ • reduced forelimb length at E14.5

growth/size/body

decreased embryo weight ( J:297059 )

♂ • 8% reduction in weight at E14.5

homeostasis/metabolism

abnormal DNA repair ( J:297059 )

♂ • 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