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Targeted Allele Detail
Symbol: Apobtm2Sgy
Name: apolipoprotein B; targeted mutation 2, Stephen G Young
MGI ID: MGI:1857304
Synonyms: apo-B100, ApoB100, ApoB100only, ApoB48-
Gene: Apob  Location: Chr12:8027648-8066835 bp, + strand  Genetic Position: Chr12, 3.53 cM
Alliance: Apobtm2Sgy page
Germline Transmission:  Earliest citation of germline transmission: J:33830
Parent Cell Line:  AB1 (ES Cell)
Strain of Origin:  129S7/SvEvBrd-Hprt1+
Allele Type:    Targeted (Null/knockout)
Mutation:    Nucleotide substitutions
Mutation detailsA "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. (J:33830)
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
In Structures Affected by this Mutation: 1 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 4 strains available      Cell Lines: 0 lines available
Carrying any Apob Mutation:  137 strains or lines available
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.

Original:  J:33830 Farese RVJr, et al., Phenotypic analysis of mice expressing exclusively apolipoprotein B48 or apolipoprotein B100. Proc Natl Acad Sci U S A. 1996 Jun 25;93(13):6393-8
All:  68 reference(s)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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MGI 6.22
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