The transgene contains the full-length human apolipoprotein B gene with a CAA to CTA point mutation in codon 2153, which results in the replacement of glutamine by leucine (Q2153L). Loss of the CAA prevents its conversion to the stop codon UAA by a liver mRNA editing mechanism, abrogating production of apo-B48 and increasing the yield of the full-length translation product, apo-B100. This mutation is called "apo-B100 Leu-Leu" in the literature because conversion by mRNA editing of the C in the mutant leucine-encoding CTA codon to U would yield UUA, which also encodes leucine. (J:262089)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
Related Disease
Reference
(C57BL/6 x SJL)
--
Insertion
--
1
--
4

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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