EXPERIMENTAL MODELS
Contributor Information
- Name Douglas Strathdee
- Institute Cancer Research UK, Glasgow: The Beatson Institute
Tool Details
- Tool name: Tafazzin KO Mouse
- Alternate names: Taz1; G4.5; TAZ1; CMD3A; EFE2; LVNCX; EFE; XAP-2; BTHS; 3-Methylglutaconic aciduria type II
- Tool type: Experimental models
- Tool sub-type: Mouse
- Disease: Barth Syndrome
- Model: Conditional KO
- Model description:
- Conditional: Yes
- Zygosity: Homozygous knock out of Taz gene
- Strain: C57BL/6
- Description: Barth syndrome is a rare X-linked genetic disorder which affects multiple body systems and is almost exclusively only diagnosed in males. The syndrome is characterized by a weakened and enlarged heart, skeletal myopathy, recurrent infections due to neutropenia and short physical stature. Dilated cardiomyopathy associated with Barth syndrome is often present at birth or develops within the first months of life. The heart muscle gradually weakens and becomes less capable to pump blood around the vasculature. Tafazzin (Taz), a protein encoded by the Taz gene in humans functions as a phospholipid-lysophospholipid transacylase. It is highly expressed in cardiac and skeletal muscle and involved in the metabolism of cardiolipin, a mitochondrial specific phospholipid.
- Research area: Tissue-specific biology; Cell signaling and signal transduction; Genetics; Immunology
- Production details: Cre-mediated recombination excises several introns and exons from the Taz gene
- Breeding information: Good breeder - knockout males are sterile
- Additional notes: HM-1 embryonic stem cells were used to construct this mouse model.
- For Research Use Only
Target Details
- Target: Tafazzin (Taz) Gene
Application Details
Handling
Documentation
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