SLC13A5 Models & Resources

SLC13A5 Model Organisms

There are multiple model organisms available to study SLC13A5 Epilepsy (aka 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 We have compiled a list of published and unpublished models available to study SLC13A5.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 science@tessfoundation.org.

^*TRFIndicates resources supported in part or all by TESS Research Foundation.

Animal Models

Model organism	General Description	Summary	Citations	Availability
Mouse	Global 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 Birkenfeld lab (Germany) Dr. Rachel Bailey lab (UTSW) Dr. Judy Liu lab (Brown) NIA
Mouse	cKO; slc13a5^fl/fl	Ongoing studies are investigating the conditional loss of SLC13A5 in various tissues.	Unpublished	Dr. Rafael de Cabo lab (NIH) Dr. Thomas Clemens lab (University of Maryland) Dr. Steve Helfand lab (Brown)
*Mouse^TRF**	Humanized SLC13A5 mouse: WT and pG219R	In 2022, TESS Research Foundation received a grant from the Orphan Disease Center to develop a humanized mouse model for the WT and most common pathogenic SLC13A5 variant (c.655G>A, p.219R)	Unpublished	Publicly available through JAX
Zebrafish	4 zebrafish lines available	These lines have not been investigated yet. 4 alleles available: sa13652, sa15957, sa35895, sa42558	Unpublished	Zebrafish International Resource Center (ZIRC)
*Flies^TRF**	Indy (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.

Patient-Derived Cell Lines and Plasmids

Model	Description	Availability
*iPSC lines^TRF**	TESS funded the development of patient- 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, Dr. Toshi Ezashi
*NPCs^TRF**	Neural Precursor Cell lines were derived from patient-derived iPSC lines.	Currently available from individual researchers. Labs with SLC13A5 NPCs: Dr. Toshi Ezashi
Plasmids	Gateway entry clones with codon-optimized ORF sequence for SLC13A5.	Available on Addgene. Clones were submitted by the RESOLUTE consortium. pDONR221_SLC13A5 (Addgene #131945) pDONR_SLC13A5_STOP (Addgene #161111)

Other Research Tools

Model	Description	Availability
Plasmids	Citrate biosensor	Available on Addgene. Developed and described by Zhao et al. 2020. Cytoplasmic citrate: CMV-Citron1 (Addgene plasmid 134303) CMV-Citroff1 (Addgene plasmid 134304) Mitochondrial citrate: CMV-mito-Citron1 (Addgene plasmid 134305) CMV-mito-Citroff1-S245 (Addgene plasmid 134306) Controls: CMV-CitronRH (Addgene plasmid #158545) CMV-CitroffRH (Addgene plasmid #158546)
NaCT inhibitor	Pfizer compound 2 (PF-06649298), Binds NaCT in a competitive and stereosensitive manner, inhibits mouse and human NaCT	Commercially available, generally requires synthesis. Characterization available in Huard et al. 2015
NaCT inhibitor	BI01383298 Negative control (BI01372674) Human specific, binds irreversibly to NaCT	Commercially available.
NaCT inhibitor	ETG-5773, Selective, cross-species active, non-competitive inhibitor	Initial characterization available in Zahn et al. 2022
NaCT Nanobody	Coming soon! 2022 Infrastructure grant to Prof. Geoffrey Chang to develop nanobodies for SLC13A5.	Coming soon.

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.