The human G117H BChE sequence (encoding the 28 amino acid signal peptide and 574 amino acid full-length protein) was modified with a single His for Gly amino acid mutation at codon 117 (G117H). To enhance expression, a chimeric intron (consisting of a human beta-globin gene and the branch and 3' acceptor site from the intron of an immunoglobulin gene heavy chain variable region) was placed between the promoter and human G117H BChE sequence. A FLAG epitope tag (encoding amino acids DYKDDDDK) was placed at the carboxy-terminus of the human G117H BChE. The transgene also contained the human elongation factor 1-alpha poly(A) sequence at the 3' end. This transgene was microinjected into fertilized [C57BL/6 x (C57BL/6xSJL)F1] eggs. Founder mice (line M837T) were bred to B6SJL/F1Tac mice. All tested tissues express G117H BChE enzyme activity. In addition, 2 other stable lines M844T and M853T were generated, with detailed analysis of M844T described. (J:89332)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
Related Disease
Reference
C57BL/6 x (C57BL/6 x SJL)F1
--
Insertion
--
1
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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

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PMID
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Year
IF
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