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The human wild-type DNAJB6 isoform b with the most common Limb-girdle muscular dystrophy type 1D mutation, F93L, and with N-terminal V5 tags is under the control of the muscle-specific muscle creatine kinase promoter. Immunoblot analysis confirmed expression exclusively in skeletal muscle and not in heart, liver, kidney, or brain. Three lines were generated, however the pound symbol (#) is used when line is not specified and/or lines are pooled. (J:226488)
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
