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The transgene comprises a mutant human genomic placental alkaline phosphatase gene joined to the enhancer/promoter from the human beta-actin gene. The mutation was generated by inserting 7 G:C base pairs downstream of a series of 4 G:C pairs near the start of the reading frame, causing a frameshift that prevents production of a functional enzyme. Loss of a single base pair from the 11-G:C tract restores the reading frame and results in reversion to the wild-type enzymatic phenotype. (J:86017)
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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| Phenotypes |
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References Literature
Title
PMID
Journal
Year
IF
