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Oligo-based site-directed mutagenesis was use to mutate codon 177 from AAG to ACC (K154T), and codon 342 from CAG to CTG (Q319L) in the mature mouse protein. Expression is driven by the CAG promoter (the chicken beta-actin (Actb) promoter with a CMV immediate-early enhancer). The 2 amino acid substitutions more than triple the functional half-life of the protein and expression is increased approximately 170-fold over wildtype. Quantitative PCR reveals elevated expression in brain, heart, lung, liver, spleen, intestine, kidney, fat, skin, and muscle (strongest in liver, brain, heart and kidney). Immunohistochemistry reveals expression in kidney, liver, spleen, and lung. (J:167969)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
Related Disease
Reference
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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References Literature
Title
PMID
Journal
Year
IF
