Tafazzin KO Mouse

Contributors

Inventor Institute
Douglas Strathdee Cancer Research UK, Glasgow: The Beatson Institute
SKU: 153237
Product 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.
Alternate name: Taz1; G4.5; TAZ1; CMD3A; EFE2; LVNCX; EFE; XAP-2; BTHS; 3-Methylglutaconic aciduria type II
Conditional: Yes
Production details: Cre-mediated recombination excises several introns and exons from the Taz gene
Additional notes: HM-1 embryonic stem cells were used to construct this mouse model.
Cat. #: 153237
Research Fields: Cell signaling and signal transduction; Genetics; Immunology; Tissue-specific biology
Target: Tafazzin (Taz) Gene
Disease: Barth Syndrome
Model: Conditional KO
Zygosity: Homozygous knock out of Taz gene
Strain: C57BL/6

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