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Targeted Allele Detail
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
Germline Transmission:  Earliest citation of germline transmission: J:65191
Parent Cell Line:  RW-4 (ES Cell)
Strain of Origin:  129X1/SvJ
Allele Type:    Targeted (Humanized sequence)
Mutations:    Insertion, Intragenic deletion
Mutation detailsDeletion 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)
View phenotypes and curated references for all genotypes (concatenated display).
In Structures Affected by this Mutation: 2 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 3 strains available      Cell Lines: 0 lines available
Carrying any Apob Mutation:  135 strains or lines available
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:  8 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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MGI 6.16
The Jackson Laboratory