Tafazzin KO Mouse
Invented by Dr Douglas Strathdee from Cancer Research UK Glasgow: The Beatson Institute
Invented at Cancer Research UK Glasgow: The Beatson Institute
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Info
| Catalogue Number | 153237 |
| Antigen/Gene or Protein Targets | Tafazzin (Taz) Gene |
| Disease Keywords | Barth Syndrome |
| Synonyms | Taz1; G4.5; TAZ1; CMD3A; EFE2; LVNCX; EFE; XAP-2; BTHS; 3-Methylglutaconic aciduria type II |
| Model | Conditional KO |
| Relevance |
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. |
| Production Details | Cre-mediated recombination excises several introns and exons from the Taz gene |
| Breeding Information | Good breeder - knockout males are sterile |
| Conditional | Yes |
| Strain | C57BL/6 |
| Zygosity | Homozygous knock out of Taz gene |
| Research Area | Cardiovascular, Cell Signaling & Signal Transduction, Genetic Studies Tools, Immunology |
| Notes | HM-1 embryonic stem cells were used to construct this mouse model. |
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