Summary | Mutation origin | Mutation description | Expression | Phenotypes | Find Mice (IMSR) | References

Symbol:	Apobtm5Sgy
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:	Apobtm5Sgy page

Germline Transmission:	Earliest citation of germline transmission: J:51549
Parent Cell Line:	RF8 (ES Cell)
Strain of Origin:	129S4/SvJae

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)

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

1 anatomical structure(s)

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:	221 strains or lines available

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)