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Targeted Allele Detail
Symbol: Apobtm5Sgy
Name: apolipoprotein B; targeted mutation 5, Stephen G Young
MGI ID: MGI:2157108
Synonyms: apob39
Gene: Apob  Location: Chr12:7977648-8016835 bp, + strand  Genetic Position: Chr12, 3.53 cM
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 detailsAn 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 structures
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:  118 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)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 6.12
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