Article
Deficiency in the mouse mitochondrial adenine nucleotide translocator isoform 2 gene is associated with cardiac noncompaction.
Biochimica et biophysica acta - 1 Aug 2016
Kokoszka Jason E, Waymire Katrina G, Flierl Adrian, Sweeney Katelyn M, Angelin Alessia, MacGregor Grant R, Wallace Douglas C
Abstract excerpt
The mouse fetal and adult hearts express two adenine nucleotide translocator (ANT) isoform genes. The predominant isoform is the heart-muscle-brain ANT-isoform gene 1 (Ant1) while the other is the systemic Ant2 gene. Genetic inactivation of the Ant1 gene does not impair fetal development but results in hypertrophic cardiomyopathy in postnatal mice. Using a knockin X-linked Ant2 allele in which exons 3 and 4 are...
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