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| Nomenclature |
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Symbol:
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Apobtm1Sgy
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Name:
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apolipoprotein B;
targeted mutation 1, Stephen G Young
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MGI ID: |
MGI:1857303 |
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Synonyms: |
apo-B48, ApoB-48-, ApoB48 |
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Gene:
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Apob
Location:
Chr12:8017208-8023641 bp, + strand
Genetic Position: Chr12,
2.0 cM
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Mutation
origin |
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Germline Transmission:
| Earliest citation of germline transmission:
J:33830
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Parent Cell Line:
| AB1 (ES Cell) |
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Strain of Origin:
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129S7/SvEvBrd-Hprt1+
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Mutation
description |
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Allele
Type: |
Targeted (knock-out) |
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Mutation: |
Nucleotide substitutions |
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A "hit and run"-type vector was used to create a stop signal 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 ApoB48 isoform is unaffected by this mutation, while no ApoB100 isoform is produced from this allele. (J:33830) |
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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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.
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Key:
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| hm |
homozygous |
ht |
heterozygous |
| cn |
conditional genotype |
cx |
complex: > 1 genome feature |
| tg |
involves transgenes |
ot |
other: hemizygous, indeterminate,... |
| N |
normal phenotype |
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expected model not found |
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Phenotypic
data by
genotype
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Phenotypic Data by Genotype
(show or
hide all phenotypic details)
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Disease
models
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Notes |
By targeted mutagenesis of the editing codon, mice expressing only APOB48 or only APOB100 were obtained. Both types of mice develop normally and are healthy and fertile. Levels of LDL-cholesterol, VLDL, and triglyceride LDL are lower relative to wild-type mice in APOB48 only mice and higher 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). APOB48 only mice have higher levels of cholesterol and more atherosclerotic lesions than APOB100 only mice in the absence of APOE (J:41510).
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| References |
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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
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All: |
11 reference(s)
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