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

Symbol:	Apobtm4Sgy
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:	Apobtm4Sgy page

Germline Transmission:	Earliest citation of germline transmission: J:46549
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 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)

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

In Structures Affected by this Mutation:

5 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: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)