Slc23a2- KO mice may be useful for studying the transport of ascorbic acid into tissues and across the placenta.
Robert L Nussbaum, University of California San Francisco
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.
A targeting vector was designed to replace exons 10-12 of the solute carrier family 23 (nucleobase transporters), member 2 (Slc23a2) gene with a neomycin resistance (neo) cassette. The construct was electroporated into 129S6/SvEvTac-derived TC1 embryonic stem (ES) cells. Correctly targeted ES cells were injected into blastocysts and the resulting chimeric mice were bred to 129S6/SvEvTac mice. Resulting Slc23a2- mice were maintained on a 129S6/SvEvTac background. Upon arrival at The Jackson Laboratory, mice were bred to 129S1/SvImJ (Stock No. 002448) for at least one generation to establish the colony.
|Allele Name||targeted mutation 1, Robert L Nussbaum|
|Allele Type||Targeted (Null/Knockout)|
|Allele Synonym(s)||Slc23a1-/-; SVCT2-|
|Gene Symbol and Name||Slc23a2, solute carrier family 23 (nucleobase transporters), member 2|
|Strain of Origin||129S6/SvEvTac|
|Molecular Note||532 nucleotides of the gene spanning exons 10-12 were replaced with a neomycin resistance cassette via homologous recombination resulting in a deletion and frameshift. RT-PCR verified the presence of mutant transcript in brain of homozygous mutant animals. Disruption of protein function was verified via ascorbic-acid uptake assay. Mouse embryonic fibroblasts from homozygous mutant animals exhibit less than 5% of normal ascorbic-acid uptake compared to wild-type.|
When maintaining a live colony, heterozygous mice may be bred to wildtype mice from the colony. Homozygous mice are born but die soon after birth due to respiratory failure and intracerebral hemorrhage.
When using the Slc23a2- mouse strain in a publication, please cite the originating article(s) and include JAX stock #027439 in your Materials and Methods section.