Apob^tm5Sgy
Targeted Allele Detail

Summary

• Symbol: Apob^tm5Sgy
• Name: apolipoprotein B; targeted mutation 5, Stephen G Young
• MGI ID: MGI:2157108
• Synonyms: apob³⁹
• Gene: Apob Location: Chr12:8027648-8066835 bp, + strand Genetic Position: Chr12, 3.53 cM
• Alliance: Apob^tm5Sgy page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:51549
• 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 codon 1785 to alter this residue from an asparagine to a stop codon (N1785X). Western blot analysis on plasma derived from heterozygous and homozygous mice demostrated that a mutant, truncated protein is expressed from this allele, and the expression of the ApoB48 and ApoB100 isoforms was abolished. (J:51549)

Expression

In Structures Affected by this Mutation:

1 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:51549 Kim E, et al., A gene-targeted mouse model for familial hypobetalipoproteinemia. Low levels of apolipoprotein B mRNA in association with a nonsense mutation in exon 26 of the apolipoprotein B gene. J Biol Chem. 1998 Dec 18;273(51):33977-84
• All: 1 reference(s)