Slc23a2- mice have a neo cassette replacing exons 10-12 of the solute carrier family 23 (nucleobase transporters), member 2 (Slc23a2) gene, abolishing gene function. Slc23a2 encodes an ascorbic acid transporter. Ascorbic acid, or Vitamin C, is required for the stability of collagen and may play a role as an antioxidant against oxidative stress. Heterozygous Slc23a2+/- mice are viable and fertile, while, homozygous mice die soon after birth due to respiratory failure and intracerebral hemorrhage. Reduced levels of ascorbic-acid are seen in most tissues of Slc23a2+/- newborns as compared with wild-type pups. Adult Slc23a2+/- mice have reduced levels in the brain and blood, but not liver. Ascorbic-acid levels are undetectable in the brain, pituitary, adrenals and pancreas of Slc23a2-/- mice, and are reduced in liver, kidney, muscle, and blood. These mice die before initial alveolar expansion, and exhibit intracranial hemorrhaging over the convex surfaces of the brain.
