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A Myl1 promoter and enhancer drive expression of a full length mouse Prkag3 cDNA with a single missense mutation (R225Q). Expression of the mutated protein was seen in the skeletal muscle. Levels of the endogenous PRKAG3 protein were reduced resulting in no significant change in overall PRKAG3 protein expression. (J:92821)
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
