Phenotypes Associated with This Genotype

Genotype
MGI:7491942

• Allelic Composition: Nipbl^{Gt(RRS564)Byg}/Nipbl⁺
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6J * CD-1

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

mortality/aging

postnatal lethality, incomplete penetrance ( J:297059 )

• only about 32% of of mice are viable after birth

embryo

decreased embryo weight ( J:297059 )

• 15% reduction in weight at E14.5

• a wild-type embryo with a heterozygous placenta also shows embryonic growth impairment

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

abnormal placenta labyrinth morphology ( J:297059 )

• mislocalized cells from the junctional zone are present in the labyrinth zone

increased placenta weight ( J:297059 )

• placentas are 8% heavier at E14.5

abnormal placenta physiology ( J:297059 )

• increased secretion of CCL2 from the placenta at E14.5

• reduced IkappaBalpha in the junctional zone and labyrinth zone 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

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

skeleton

decreased bone ossification ( J:297059 )

• in the jawbone

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

abnormal chemokine level ( J:297059 )

• increased secretion of CCL2 by the placenta at E14.5 and a 2-fold increase in CCL2 levels in the embryo compared to controls at E18.5

growth/size/body

decreased embryo weight ( J:297059 )

• 15% reduction in weight at E14.5

• a wild-type embryo with a heterozygous placenta also shows embryonic growth impairment

immune system

abnormal chemokine level ( J:297059 )

• increased secretion of CCL2 by the placenta at E14.5 and a 2-fold increase in CCL2 levels in the embryo compared to controls at E18.5

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Cornelia de Lange syndrome 1		DOID:0080505	OMIM:122470	J:297059