Apob^tm1Zc
Targeted Allele Detail

Summary

• Symbol: Apob^tm1Zc
• Name: apolipoprotein B; targeted mutation 1, Zhouji Chen
• MGI ID: MGI:2183299
• Synonyms: Apob^27.6
• Gene: Apob Location: Chr12:8027648-8066835 bp, + strand Genetic Position: Chr12, 3.53 cM
• Alliance: Apob^tm1Zc page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:76047
• 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. 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)

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: 0 strains available Cell Lines: 0 lines available
• Carrying any Apob Mutation: 224 strains or lines available

References

• 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
• All: 1 reference(s)