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| Nomenclature |
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Symbol:
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Apobtm5Sgy
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Name:
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apolipoprotein B;
targeted mutation 5, Stephen G Young
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MGI ID: |
MGI:2157108 |
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Synonyms: |
apob39 |
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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:51549
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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 codon 1785 to alter this residue from an asparagine to a stop codon. Western blot analysis on plasma derived from heterozygous and homozygous mice demostrated that a mutant, truncated protein is expressed from this allele, and the expression of the ApoB48 and ApoB100 isoforms was abolished. (J:51549)
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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:51549
Kim E et al.,
"A gene-targeted mouse model for familial hypobetalipoproteinemia. Low levels of apolipoprotein B mRNA in association with a nonsense mutation in exon 26 of the apolipoprotein B gene."
J Biol Chem 1998 Dec 18;273(51):33977-84
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All: |
1 reference(s)
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Analysis Tools
