Apob^tm1.1Zc
Targeted Allele Detail

Summary

• Symbol: Apob^tm1.1Zc
• Name: apolipoprotein B; targeted mutation 1.1, Zhouji Chen
• MGI ID: MGI:2183298
• Synonyms: apoB^38.9
• Gene: Apob Location: Chr12:8027648-8066835 bp, + strand Genetic Position: Chr12, 3.53 cM
• Alliance: Apob^tm1.1Zc page

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 (Humanized sequence)
• 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)

Expression

In Structures Affected by this Mutation:

2 anatomical structure(s)

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: 224 strains or lines available

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: 8 reference(s)