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Targeted Allele Detail
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
Germline Transmission:  Earliest citation of germline transmission: J:16352
Parent Cell Line:  E14TG2a (ES Cell)
Strain of Origin:  129P2/OlaHsd
Allele Type:    Targeted (Hypomorph)
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 by replacing these sequences with beta globin (Hbb-bs) sequences. The beta globin sequence inadvertently contained an in-frame stop codon 5' of the LDL receptor binding domains. 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 ApoB70 isoform is produced from this allele. (J:16352)
View phenotypes and curated references for all genotypes (concatenated display).
In Structures Affected by this Mutation: 4 anatomical structures
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:  118 strains or lines available
Day 9 embryos show excessive cell death in the alar plate of the hind brain, possibly associated with vitamin E deficiency (J:24237).
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)

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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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