apolipoprotein B

 20% reduction in plasma cholesterol levels in heterozygotes
 70% reduction in plasma apolipoprotein B in heterozygotes
 Protection from diet-induced hypercholesterolemia in heterozygotes
 Hypobetalipoproteinemia and developmental abnormalities in homozygotes (Homanics et al., 1993)

 Production of truncated apoB protein
 Markedly decreased plasma concentrations of apoB, beta lipoproteins, and total cholesterol
 Reduced plasma triglyceride concentrations
 Fasting chylomicronemia
 Reduced high density lipoprotein cholesterol
 Increased incidence of exencephalus and hydrocephalus
 Resorption of most homozygous embryos by mid-gestation (Farese Jr. et al., 1995)

Homanics et al., 1993
Farese Jr. et al., 1995

apo B

 Homozygous mice

 Embryonic lethality by gestational day 9
 Heterozygous mice
 Normal triglycerides
 Lower total HDL, LDL cholesterol levels
 Incomplete neural tube closure
 Some development of hydrocephalus
 Male infertility
 Reduced levels of hepatic and intestinal apo mRNA
 Reduced transport rates of HDL cholesterol and apo A-1

Huang, 1995
apo B gene knockout in mice results in embryonic lethality in homozygotes and neural tube defects, male infertility, and reduced HDL cholesterol ester and apo A-I transport rates in heterozygotes.
J Clin Invest 96, 2152-2161 (1995) [96066679]


METHODOLOGY ( FROM T-BASE)

((apob))

Line Name DNA Construct
1. apoB (+/-) An approximately 11-kb Bglll fragment containing exon 26 of the Apob gene was isolated from STO cell DNA. Two oligonucleotides which encode peptides of human beta(s)-gl....
2. apoB (-/-) An approximately 11-kb Bglll fragment containing exon 26 of the Apob gene was isolated from STO cell DNA. Two oligonucleotides which encode peptides of human beta(s)-gl....
3. Apob (-/-) A neomycin resistance gene (neo) containing the RNA polymerase II promoter and a herpes simplex virus thymidine kinase (tk) polyadenylation signal was subcloned into the....
4. Apob (+/-) A neomycin resistance gene (neo) containing the RNA polymerase II promoter and a herpes simplex virus thymidine kinase (tk) polyadenylation signal was subcloned into the....


Database links

OMIM MEDLINE Citations Protein Links Nucleotide Links Cardiff Human Gene Mutation Database Gene Map GDB MEDLINE Neighbors