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Allele : Apob<tm1Unc> apolipoprotein B; targeted mutation 1, University of North Carolina

Primary Identifier  MGI:1857141 Allele Type  Targeted
Attribute String  Hypomorph Gene  Apob
Transmission  Germline Strain of Origin  129P2/OlaHsd
Is Recombinase  false Is Wild Type  false
description  Day 9 embryos show excessive cell death in the alar plate of the hind brain, possibly associated with vitamin E deficiency (J:24237).
molecularNote  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.
  • mutations:
  • Nucleotide substitutions,
  • Insertion
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

0 Driven By

6 Publication categories