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Allele : Apob<tm2Sgy> apolipoprotein B; targeted mutation 2, Stephen G Young

Primary Identifier  MGI:1857304 Allele Type  Targeted
Attribute String  Null/knockout Gene  Apob
Transmission  Germline Strain of Origin  129S7/SvEvBrd-Hprt1<+>
Is Recombinase  false Is Wild Type  false
description  Levels of LDL-cholesterol, VLDL, and triglyceride LDL are higher relative to wild-type mice in APOB100 only mice in the presence of wild-type APOE production. In the presence of genetic APOE deficiency, APOB100 only mice have lowered cholesterol levels (J:33830).

Phenotypic Similarity to Human Syndrome: Calcific Aortic Valve Disease J:227165 in mice homozygous for Apobtm2Sgy and Ldlrtm1Her and carrying the Tg(Ins-Igf2)1Fbos transgene.

molecularNote  A "hit and run"-type vector was used to create a CTA to TTA mutation in codon 2179 (codon 2153 in the original publication) in sequences corresponding to the apo-B48 editing codon. Western blot analysis on plasma derived from heterozygous and homozygous mice demostrated that the expression of the ApoB100 isoform is unaffected by this mutation, while no ApoB48 isoform is produced from this allele.
  • mutations:
  • Nucleotide substitutions
  • synonyms:
  • ApoB<100>,
  • ApoB48<->,
  • ApoB48<->,
  • ApoB<100only>,
  • apo-B<100>,
  • apo-B<100>,
  • ApoB<100>,
  • ApoB<100only>
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

4 Carried By

Trail: Allele

0 Driven By

74 Publication categories

Trail: Allele