Apob^tm4Sgy
Targeted Allele Detail

Summary

• Symbol: Apob^tm4Sgy
• Name: apolipoprotein B; targeted mutation 4, Stephen G Young
• MGI ID: MGI:2157775
• Synonyms: Apob⁸³
• Gene: Apob Location: Chr12:8027648-8066835 bp, + strand Genetic Position: Chr12, 3.53 cM
• Alliance: Apob^tm4Sgy page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:46549
• Parent Cell Line: RF8 (ES Cell)
• Strain of Origin: 129S4/SvJae

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: An insertion-type vector was used to create mutations in exon 26 at both codon 2153 to alter this residue from an glutamine to one encoding leucine (Q2153L) and at codon 3798 to alter this residue from a leucine to a stop codon (L3798X). Western blot analysis on plasma derived from hemizygous mice demonstrated that a mutant, truncated protein is expressed from this allele, and the expression of the ApoB48 and ApoB100 isoforms was abolished. (J:46549)

Expression

In Structures Affected by this Mutation:

5 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:46549 Kim E, et al., Dual mechanisms for the low plasma levels of truncated apolipoprotein B proteins in familial hypobetalipoproteinemia. Analysis of a new mouse model with a nonsense mutation in the Apob gene. J Clin Invest. 1998 Mar 15;101(6):1468-77
• All: 1 reference(s)