Apob^tm1Unc
Targeted Allele Detail

Summary

• Symbol: Apob^tm1Unc
• Name: apolipoprotein B; targeted mutation 1, University of North Carolina
• MGI ID: MGI:1857141
• Gene: Apob Location: Chr12:8027648-8066835 bp, + strand Genetic Position: Chr12, 3.53 cM
• Alliance: Apob^tm1Unc page

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 (Hypomorph)
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: An 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)

Expression

In Mice Carrying this Mutation:	1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	3 anatomical structure(s)

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: 224 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)