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)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129P2/OlaHsd
Targeted
Insertion, Nucleotide substitutions
--
1
7
3

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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