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Apobtm1Unc
Targeted Allele Detail
Nomenclature
Symbol: Apobtm1Unc
Name: apolipoprotein B; targeted mutation 1, University of North Carolina
MGI ID: MGI:1857141
Gene: Apob  Location: Chr12:7977648-8016835 bp, + strand  Genetic Position: Chr12, 3.53 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:16352
Parent Cell Line:  E14TG2a (ES Cell)
Strain of Origin:  129P2/OlaHsd
Mutation
description
Allele Type:    Targeted
Mutations:    Insertion, Nucleotide substitutions
 
Mutation detailsAn insertion-type vector was used to create mutations in exon 26 in sequences encoding a region in the encoded protein thought to be important for LDL receptor binding. An in-frame stop codon was also inserted. Western blot analysis on plasma derived from heterozygous and homozygous mice demostrated that the expression of the ApoB48 isoform is unaffected by this mutation, while a truncated mutant ApoB100 isoform is produced from this allele. (J:16352)
Phenotypes
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View phenotypes for all genotypes (concatenated display).
Disease models
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Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Apob Mutation:  14 strains or lines available
Notes
Day 9 embryos show excessive cell death in the alar plate of the hind brain, possibly associated with vitamin E deficiency (J:24237).

References
Original:  J:16352 Homanics GE, et al., Targeted modification of the apolipoprotein B gene results in hypobetalipoproteinemia and developmental abnormalities in mice. Proc Natl Acad Sci U S A. 1993 Mar 15;90(6):2389-93
All:  3 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
01/20/2015
MGI 5.21
The Jackson Laboratory