Phenotypes associated with this allele

• Allele Symbol: Mttp^tm1Sgy
• Allele Name: targeted mutation 1, Stephen G Young
• Allele ID: MGI:2152201
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Mttp^tm1Sgy/Mttp^tm1Sgy	involves: 129S4/SvJae	MGI:3624417
ht2	Mttp^tm1Sgy/Mttp^+	involves: 129S4/SvJae	MGI:3624420

Genotype
MGI:3624417

hm1

• Allelic Composition: Mttp^tm1Sgy/Mttp^tm1Sgy
• Genetic Background: involves: 129S4/SvJae

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

Phenotype of Mttp^tm1Sgy/Mttp^tm1Sgy and wild-type embryos at E9.5

mortality/aging

embryonic lethality during organogenesis, incomplete penetrance ( J:48934 )

• most embryos die around E10.5, although a few survive to E14.5

embryo

embryo tissue necrosis ( J:48934 )

• by E10.5, most embryos appear necrotic

embryonic growth retardation ( J:48934 )

• E9.5 embryos are retarded in growth

incomplete rostral neuropore closure ( J:48934 )

• E9.5 and 10.5 embryos have an open anterior neuropore

abnormal visceral yolk sac endoderm morphology ( J:48934 )

• exhibit an accumulation of lipid in the visceral endoderm of the yolk sac

abnormal visceral yolk sac blood island morphology ( J:48934 )

• hematopoietic cells are rarely observed in yolk sac blood islands at E10.5

pale yolk sac ( J:48934 )

• pale at E9.5

growth/size/body

embryonic growth retardation ( J:48934 )

• E9.5 embryos are retarded in growth

cardiovascular system

hemorrhage ( J:48934 )

• at E14.5, most embryos are hemorrhagic and in a stage of resorption

homeostasis/metabolism

abnormal lipid homeostasis ( J:48934 )

• lipoprotein production is almost always absent in the visceral endoderm cells at E9.5

hematopoietic system

decreased erythrocyte cell number ( J:48934 )

• very few mature erythrocytes at E14.5

nervous system

incomplete rostral neuropore closure ( J:48934 )

• E9.5 and 10.5 embryos have an open anterior neuropore

exencephaly ( J:48934 )

• embryos surviving to E14.5 all have exencephalus

cellular

embryo tissue necrosis ( J:48934 )

• by E10.5, most embryos appear necrotic

Genotype
MGI:3624420

ht2

• Allelic Composition: Mttp^tm1Sgy/Mttp⁺
• Genetic Background: involves: 129S4/SvJae

embryo

abnormal visceral yolk sac endoderm morphology ( J:48934 )

• exhibit an accumulation of lipid in the visceral endoderm of the yolk sac

homeostasis/metabolism

abnormal lipid homeostasis ( J:48934 )

• reduction in lipoprotein secretion from hepatocytes

abnormal lipid level ( J:48934 )

• livers contain increased amounts of neutral lipids

abnormal circulating lipid level ( J:48934 )

• 28% reduction in plasma apoB100 levels on a regular diet

• 15-20% reduction in apoB100 levels on a high fat diet

abnormal circulating cholesterol level ( J:48934 )

• exhibit a small but consistent reduction in intermediate density lipoprotein (IDL)/LDL cholesterol levels

decreased circulating cholesterol level ( J:48934 )

• on a high fat diet, total plasma cholesterol levels are about 20% lower as a result of a decrease in VLDL and LDL cholesterol

decreased circulating LDL cholesterol level ( J:48934 )

• reduction in plasma levels of low-density lipoprotein cholesterol on a regular and high fat diet

decreased circulating VLDL cholesterol level ( J:48934 )

• on a high fat diet

increased liver cholesterol level ( J:48934 )

• livers contain increased amounts of cholesterol

increased liver triglyceride level ( J:48934 )

• livers contain increased amounts of triglyceride

liver/biliary system

increased liver cholesterol level ( J:48934 )

• livers contain increased amounts of cholesterol

increased liver triglyceride level ( J:48934 )

• livers contain increased amounts of triglyceride

hepatic steatosis ( J:48934 )

• livers exhibit an accumulation of cytosolic fat