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| Nomenclature |
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Symbol:
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Apobtm1Zc
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Name:
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apolipoprotein B;
targeted mutation 1, Zhouji Chen
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MGI ID: |
MGI:2183299 |
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Synonyms: |
Apob27.6 |
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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:76047
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Parent Cell Line:
| RW-4 (ES Cell) |
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Strain of Origin:
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129X1/SvJ
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Mutation
description |
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Allele
Type: | |
Targeted (knock-in) |
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Mutations: | |
Insertion, Intragenic deletion |
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Mutation details: Deletion of nucleotide 5449 in exon 26 and a loxP-flanked PGK-neo cassette inserted into intron 24 were introduced to the gene via homologous recombination. The single nucleotide deletion should result in a truncated protein similar to the apoB-38.9 mutation found in human familial hypobetalipoproteinemia (FHBL). Western blot analysis of homozygous mutants showed an unexpected mutant protein similar to apoB-27.6, a smaller form of mutant protein found in FHBL. Southern blot analysis of homozygous mutant animals showed the gene was correctly targeted. (J:76047)
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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:76047
Chen Z et al.,
"Hypobetalipoproteinemic Mice with a Targeted Apolipoprotein (Apo) B-27.6-specifying Mutation. IN VIVO EVIDENCE FOR AN IMPORTANT ROLE OF AMINO ACIDS 1254-1744 OF ApoB IN LIPID TRANSPORT AND METABOLISM OF THE ApoB-CONTAINING LIPOPROTEIN."
J Biol Chem 2002 Apr 19;277(16):14135-45
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All: |
1 reference(s)
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Analysis Tools
