|
|
| Nomenclature |
|
Symbol:
|
Apobtm1.1Zc
|
|
Name:
|
apolipoprotein B;
targeted mutation 1.1, Zhouji Chen
|
|
MGI ID: |
MGI:2183298 |
|
Synonyms: |
apoB38.9 |
|
Gene:
|
Apob
Location:
Chr12:7977648-8016835 bp, + strand
Genetic Position: Chr12,
3.53 cM
|
|
Mutation
origin |
|
Germline Transmission:
|
Earliest citation of germline transmission:
J:65191
|
|
Parent Cell Line:
| RW-4 (ES Cell) |
|
Strain of Origin:
|
129X1/SvJ
|
|
Mutation
description |
|
Allele
Type: | |
Targeted (knock-in) |
|
Mutations: | |
Insertion, Intragenic deletion |
| |
|
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. This deletion mimics the ApoB-38.9 truncation mutation found in human familial hypobetalipoproteinemia (FHBL). The neo cassette was removed by transient expression of Cre recombinase in correctly targeted ES cells. Southern blot analysis confirmed the absence of the neo cassette in homozygous mutant mice; Western blot analysis showed a mutant protein product of similar size to the human ApoB-38.9 mutant protein. (J:65191)
|
|
Phenotypes
|
View phenotypes for all genotypes (concatenated display).
|
|
Disease models
|
|
| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
|
| References |
|
Original: |
J:65191
Chen Z et al.,
"A targeted apolipoprotein B-38.9-producing mutation causes fatty livers in mice due to the reduced ability of apolipoprotein B-38.9 to transport triglycerides"
J Biol Chem 2000 Oct 20;275(42):32807-15
|
|
All: |
7 reference(s)
|
|
Analysis Tools
