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The 3.6 kbp transgene contains a human skeletal muscle alpha-actin promoter (~2.2 kbp of the 5prime region of ACTA1), a full-length human AMP-activated protein kinase non-catalytic gamma1 (PRKAG1) cDNA sequence harboring the R70Q amino acid substitution tagged to the 5' end with a hemagglutinin (HA) epitope, all followed by the SV40 sequence. Immunoblot detects transgene expression in gastrocnemius, tibialis anterior, quadriceps and extensor digitorum longus muscles. There is little detectable expression in the soleus and low level expression in heart. Founder line 3 has approximately threefold increase in total gamma1 gene copy number compared with wildtype mice
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
