Slc25a13-knockout mice harbor metabolic deficits but fail to display hallmarks of adult-onset type II citrullinemia.

@article{Sinasac2004Slc25a13knockoutMH,
  title={Slc25a13-knockout mice harbor metabolic deficits but fail to display hallmarks of adult-onset type II citrullinemia.},
  author={David S. Sinasac and Mitsuaki Moriyama and Md Abdul Jalil and Laila Begum and Meng Xian Li and Mikio Iijima and Masahisa Horiuchi and B. H. Robinson and Keiko Kobayashi and Takeyori Saheki and Lap-chee Tsui},
  journal={Molecular and cellular biology},
  year={2004},
  volume={24 2},
  pages={527-36}
}
Adult-onset type II citrullinemia (CTLN2) is an autosomal recessive disease caused by mutations in SLC25A13, the gene encoding the mitochondrial aspartate/glutamate carrier citrin. The absence of citrin leads to a liver-specific, quantitative decrease of argininosuccinate synthetase (ASS), causing hyperammonemia and citrullinemia. To investigate the physiological role of citrin and the development of CTLN2, an Slc25a13-knockout (also known as Ctrn-deficient) mouse model was created. The… CONTINUE READING