| 11739 |
P48962 |
ADT1_MOUSE |
ADP/ATP translocase 1 (ADP,ATP carrier protein 1) (ADP,ATP carrier protein, heart/skeletal muscle isoform T1) (Adenine nucleotide translocator 1) (ANT 1) (Solute carrier family 25 member 4) |
DISRUPTION PHENOTYPE |
Mice display mitochondrial myopathy affecting heart and skeletal muscles (PubMed:9207786). Hindlimb muscles exhibit abundant ragged-red fibers, characteristic of mitochondrial myopathies (PubMed:9207786). Increased mitochondrial activity is observed, reflecting greater mitochondrial content (PubMed:9207786). In addition, mice are exercise intolerant (PubMed:9207786). Mice develop chronic progressive external ophthalmoplegia, but show normal ocular motility (PubMed:16303948). In retina, while abnormalities are observed in extraocular muscles, retinal structure and function are not affected normal (PubMed:20671283). Cells display impaired mitochondrial uncoupling (PubMed:31341297). Cells show impaired autophagy, leading to accumulation of aberrant mitochondria (PubMed:31618756). Mice lacking Slc25a4/Ant1 and Slc25a5/Ant2 in liver still have mitochondrial permeability transition pore (mPTP) activity, although more Ca(2+) is required to activate the mPTP (PubMed:14749836). Deletion of Slc25a4/Ant1, Slc25a5/Ant2 and Slc25a31/Ant4 in liver completely inhibits mPTP (PubMed:31489369). Mice lacking Slc25a4/Ant1, Slc25a5/Ant2, Slc25a31/Ant4 and Ppif lack Ca(2+)-induced mPTP formation (PubMed:31489369). {ECO:0000269|PubMed:14749836, ECO:0000269|PubMed:16303948, ECO:0000269|PubMed:20671283, ECO:0000269|PubMed:31341297, ECO:0000269|PubMed:31489369, ECO:0000269|PubMed:31618756, ECO:0000269|PubMed:9207786}. |