Sequence analyses identified two consecutive point mutations in exon 3 of the ApoA1 gene of the BcA68 recombinant inbred strain: a G>T transition at the third position of codon 22 (TGG), producing a tryptophan to cysteine missense (W22C); and a C>T transition at position 1 of codon 23 (CAG), which replaces a glutamine by a stop (Q23Stop) (Figure 6C). The presence of these mutations predicts the synthesis of a truncated 22aa ApoA1 protein in the recombinant strain in place of the wild-type 264aa protein; however, no ApoA1 protein was detected in this strain. (J:191338)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
BcA68/Pgrs
Spontaneous
Nucleotide substitutions
--
1
7
2

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:
Show/Hide columns
Phenotypes

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
Wechat
Comparison
Al agent
Tutorials
Back to top