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Apobtm2Sgy
Targeted Allele Detail

Nomenclature
Symbol: Apobtm2Sgy
Name: apolipoprotein B; targeted mutation 2, Stephen G Young
MGI ID: MGI:1857304
Synonyms: apo-B100
Gene: Apob   Location: Chr12:8017208-8023641 bp, + strand    Genetic Position: Chr12, 2.0 cM
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 (knock-out)
Mutation: Nucleotide substitutions
  A "hit and run"-type vector was used to create a CTA to TTA mutation in codon 2153 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)
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: 13 strains or lines available
Phenotype
summary
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Phenotype Summary by Mammalian Phenotype terms

(show or hide all annotated terms)

Genotypes are listed in the next section.

      Key:  
hm homozygous ht heterozygous
cn conditional genotype  cx complex: > 1 genome feature
tg involves transgenes ot other: hemizygous, indeterminate,...
N normal phenotype expected model not found
Affected SystemsGenotypes:
 
hm1
 
ht2
 
cx3
 
tg4
  
cardiovascular system          
   
  
homeostasis/metabolism          
 
  
pigmentation          
   
  
vision/eye          
   
 
  
Disease Models          
  
Phenotypic
data by
genotype
Phenotypic Data by Genotype

(show or hide all phenotypic details)

GenotypeAllelic CompositionGenetic Background
  
 hm1   Disease Model  
Apobtm2Sgy/Apobtm2Sgy involves: 129/Sv * C57BL/6
  
 ht2   Disease Model  
Apobtm2Sgy/Apobtm4Sgy involves: 129/Sv * 129S4/SvJae * C57BL/6
  
 cx3   
Apobtm2Sgy/Apobtm2Sgy
Ldlrtm1Her/Ldlrtm1Her
involves: 129S7/SvEvBrd * C57BL/6
  
 tg4   
Apobtm2Sgy/Apobtm2Sgy
Ldlrtm1Her/Ldlrtm1Her
Tg(Ins-Igf2)1Fbos/?
involves: 129S7/SvEvBrd * C57BL/6 * SJL
Disease
models
Mouse Models
of Human Disease
NoteGenotypeRef(s)
 
Allelic Composition
Genetic Background
Models with phenotypic similarity to human diseases associated with human APOB.
Apolipoprotein B; APOB
OMIM ID: 107730
 
 
ht2
Apobtm2Sgy/Apobtm4Sgyinvolves: 129/Sv * 129S4/SvJae * C57BL/6J:46549
 
 
hm1
Apobtm2Sgy/Apobtm2Sgyinvolves: 129/Sv * C57BL/6J:33830
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: 19 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
11/20/2009
MGI_4.31
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