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Apobtm1Sgy
Targeted Allele Detail
Summary
Symbol: Apobtm1Sgy
Name: apolipoprotein B; targeted mutation 1, Stephen G Young
MGI ID: MGI:1857303
Synonyms: apo-B48, ApoB48, ApoB-48-
Gene: Apob  Location: Chr12:8027648-8066835 bp, + strand  Genetic Position: Chr12, 3.53 cM
Alliance: Apobtm1Sgy page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:33830
Parent Cell Line:  AB1 (ES Cell)
Strain of Origin:  129S7/SvEvBrd-Hprt1+
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutation:    Nucleotide substitutions
 
Mutation detailsA "hit and run"-type vector was used to create a stop signal 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 ApoB48 isoform is unaffected by this mutation, while no ApoB100 isoform is produced from this allele. (J:33830)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 1 anatomical structure(s)
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 2 strains available      Cell Lines: 0 lines available
Carrying any Apob Mutation:  221 strains or lines available
Notes
Levels of LDL-cholesterol, VLDL, and triglyceride LDL are lower relative to wild-type mice in APOB48 only mice in the presence of wild-type APOE production(J:33830). APOB48 only mice have higher levels of cholesterol and more atherosclerotic lesions than APOB100 only mice in the absence of APOE (J:41510).
References
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:  14 reference(s)

Contributing Projects:
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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last database update
03/12/2024
MGI 6.23
The Jackson Laboratory