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| Nomenclature |
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Symbol:
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Apobtm4Sgy
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Name:
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apolipoprotein B;
targeted mutation 4, Stephen G Young
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MGI ID: |
MGI:2157775 |
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Synonyms: |
Apob83 |
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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:46549
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Parent Cell Line:
| RF8 (ES Cell) |
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Strain of Origin:
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129S4/SvJae
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Mutation
description |
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Allele
Type: | |
Targeted (knock-in) |
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Mutations: | |
Insertion, Nucleotide substitutions |
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Mutation details: An insertion-type vector was used to create mutations in exon 26 at both codon 2153 to alter this residue from an glutamine to one encoding leucine and at codon 3798 to alter this residue from a leucine to a stop codon. Western blot analysis on plasma derived from hemizygous mice demonstrated that a mutant, truncated protein is expressed from this allele, and the expression of the ApoB48 and ApoB100 isoforms was abolished. (J:46549)
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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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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Apob Mutation:
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13 strains or lines available |
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| References |
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Original: |
J:46549
Kim E et al.,
"Dual mechanisms for the low plasma levels of truncated apolipoprotein B proteins in familial hypobetalipoproteinemia. Analysis of a new mouse model with a nonsense mutation in the Apob gene."
J Clin Invest 1998 Mar 15;101(6):1468-77
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All: |
1 reference(s)
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Analysis Tools
