Phenotypes associated with this allele

• Allele Symbol: Apob^tm3Sgy
• Allele Name: targeted mutation 3, Stephen G Young
• Allele ID: MGI:1857625
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Apob^tm3Sgy/Apob^tm3Sgy	involves: 129S7/SvEvBrd * C57BL/6	MGI:6451057
ht2	Apob^tm3Sgy/Apob^+	involves: 129S7/SvEvBrd * C57BL/6	MGI:2660895

Genotype
MGI:6451057

hm1

• Allelic Composition: Apob^tm3Sgy/Apob^tm3Sgy
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

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

The yolk sac visceral endoderm from Apob^tm3Sgy/Apob^tm3Sgy embryos contains foamy vacuoles

embryo

abnormal embryo development ( J:84977 )

• cholesterol concentrations in intraembryonic tissues at E9.5-10.5 were reduced

abnormal visceral yolk sac endoderm morphology ( J:84977 )

• yolk sac visceral endodermal cells at E9.5 contain at their basal surface numerous small vacuoles, which often appear foamy

• these cells show an accumulation of cytosolic lipid droplets at their basal surface

• these cells contain no lipoproteins in their secretory vesicles

mortality/aging

embryonic lethality during organogenesis, incomplete penetrance ( J:23315 )

• incomplete penetrance, most dead by E10.5

nervous system

exencephaly ( J:23315 )

• in mice that survived past E10.5

Genotype
MGI:2660895

ht2

• Allelic Composition: Apob^tm3Sgy/Apob⁺
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

Accumulation of lipid droplets in the yolk sac visceral endodermal cells of Apob^tm3Sgy/Apob⁺ and Apob^tm3Sgy/Apob^tm3Sgy mice

embryo

abnormal embryo development ( J:84977 )

• cholesterol concentrations in intraembryonic tissues at E9.5-10.5 were reduced

abnormal visceral yolk sac endoderm morphology ( J:84977 )

• yolk sac visceral endodermal cells at E9.5 had reduced amounts of lipoprotein in their Golgi apparatus

• these cells show an intermediate level of accumulation of cytosolic lipid droplets at their basal surface

• these cells contain reduced lipoproteins in their secretory vesicles

homeostasis/metabolism

abnormal cholesterol homeostasis ( J:23315 )

• markedly reduced plasma concentrations of beta-lipoprotein

• reduced plasma concentrations of apolipoprotein-B

• protection from diet-induced hypercholesterolemia

decreased circulating cholesterol level ( J:23315 )

• on a chow diet, plasma concentration was reduced by 19% compared to wild-type controls

decreased circulating HDL cholesterol level ( J:23315 )