Allele/Variant

Tg(Ckm-DNAJB6_ib*F93L)#Ccwe

Species
Mus musculus
Symbol
Tg(Ckm-DNAJB6_ib*F93L)#Ccwe
Category
allele
Allele of gene
None
Transgenic Constructs
Synonyms
  • hDNAJB6a-F93L
Description
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.
Additional Information
Literature

Transgenic Constructs

This allele contains 1 transgenic construct
Symbol
Expressed Components
Knock-down Targets
None
Regulatory Regions
None
All alleles with this construct

Genomic Variant Information

No data available

Variant Molecular Consequences

No data available

Phenotypes

Phenotype
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    Disease Associations

    Association
    Disease Qualifier
    Disease
    Annotation details
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