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The human BAG3 cDNA with the P209L missense mutation is under the control of the alpha-MHC promoter. This mutation has been identified in myofibrillar myopathy patients. Transgene expression levels are approximately 2-fold of wild-type levels in the heart. The pound (#) sign is used when line number is not specifies or lines are pooled. (J:234278)
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
