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The transgene contains the following elements: mouse Myh6 promoter, human PRKAG2 cDNA with a generated c.1589A>G point mutation, and human GH gene 3' UTR (including poly(A) signal). This mutation, which changes histidine codon 530 to an arginine codon (p.His530Arg), is found in some human familial Wolff-Parkinson-White (WPW) syndrome patients. (J:278059)
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
