SLC13A5 Models & Resources

SLC13A5 Models

There are multiple model organisms available to study SLC13A5 Citrate Transporter Disorder. We have compiled a list of published and unpublished models available to study Slc13a5.

If you have questions regarding these tools, please reach out to TESS Research Foundation. If we can facilitate accessing any of these resources or if you need help with shipping costs, please contact tanya@tessfoundation.org.

Animal Models

Model organismGeneral DescriptionSummaryCitationsAvailability
MouseGlobal KO;
C57Bl/6J
Global loss of SLC13A5 leads to protection from metabolic phenotypes, similar to animals undergoing calorie restriction. KO mice exhibit seizure activity starting at 7 weeks of age, no obvious behavioral phenotype, and elevated citrate levels in the CSF. Henke et al. 2020
Birkenfeld et al. 2011
Dr. Andreas
Dr. Rachel Bailey Lab (UTSW)
Dr. Judy
MousecKO;
Slc13a5fl/fl
Ongoing studies are investigating the conditional loss of SLC13A5 in various tissues. UnpublishedDr. Rafael
Zebrafish4 zebrafish lines availableThese lines have not been investigated yet.
4 alleles available:
UnpublishedZebrafish International Resource Center (ZIRC)
FliesIndy (I’m not dead yet)Mutations in Indy improve metabolism, in a similar manner to calorie restriction, and increase life span.Knauf et al. 2002
Inoue et al. 2002
Flybase (31 stocks available as of 5/21)

For more resources regarding SLC13A5 model organisms, please see the links listed below:

List of SLC13A5 mice found on the International Mouse Strain Resource (IMSR).

List of SLC13A5 zebrafish mutants at the Zebrafish International Resource Center (ZIRC).

List of SLC13A5 Fly lines available at FlyBase.

Cellular Models

ModelDescriptionAvailability
iPSC linesTESS funded the development of patient-derived and carrier-derived iPSC lines. The iPSC line with the most common mutation (G219R) also has an isogenic control line.Currently available from individual researchers. We are in the process of transferring the iPSCs to a publicly available biobank.

Labs with SLC13A5 iPSCs:
Dr. Adriana Beltran (UNC), Dr. Toshihiko Ezashi (CCRM)
NPCsNeural Precursor Cell lines were derived from patient-derived iPSC lines. Currently available from individual researchers.

Labs with SLC13A5 NPCs:
Dr. Toshihiko Ezashi (CCRM)
OrganoidsCheck back soon!

Other Resources

ModelDescriptionAvailability
PlasmidsGateway entry clones with codon-optimized ORF sequence for SLC13A5. Available on Addgene. Clones were submitted by the RESOLUTE consortium.

pDONR221_SLC13A5 (Addgene #131945)

pDONR221_SLC13A5_STOP (Addgene #161111)
NaCT cryo-EM structureHuman NaCT cryo-EM structure in complex with citrate or NaCT inhibitor.Publication: Sauer et al. 2021.
BiobankWe have a variety of patient samples available.If you are interested in patient samples, please contact info@tessfoundation.org.

If you are interested in partnering with us, please let us know! We are very interested in developing partnerships with academic researchers, clinicians, biotech, and pharma. Previous examples of TESS collaborative efforts include collecting teeth from SLC13A5 Citrate Transporter Disorder patients and then partnering with researchers investigating how loss of Slc13a5 affects bone and tooth development.