Deletion of nucleotide 5449 in exon 26 and a loxP-flanked PGK-neo cassette inserted into intron 24 were introduced to the gene via homologous recombination. The single nucleotide deletion should result in a truncated protein similar to the apoB-38.9 mutation found in human familial hypobetalipoproteinemia (FHBL). Western blot analysis of homozygous mutants showed an unexpected mutant protein similar to apoB-27.6, a smaller form of mutant protein found in FHBL. Southern blot analysis of homozygous mutant animals showed the gene was correctly targeted. (J:76047)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129X1/SvJ
Targeted
Insertion, Intragenic deletion
--
1
7
1

Phenotypes

Legend:
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes:
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Phenotypes

References Literature

Title
PMID
Journal
Year
IF
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