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| Nomenclature |
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Symbol:
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Apobtm2Sgy
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Name:
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apolipoprotein B;
targeted mutation 2, Stephen G Young
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MGI ID: |
MGI:1857304 |
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Synonyms: |
apo-B100, ApoB100, ApoB48- |
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Gene:
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Apob
Location:
Chr12:7977648-8016835 bp, + strand
Genetic Position: Chr12,
3.53 cM
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Mutation
origin |
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Germline Transmission:
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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-Hprt+
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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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Mutation details: 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)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Notes |
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).
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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: |
30 reference(s)
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Analysis Tools
