Slc13a5 (solute carrier family 13 (sodium-dependent citrate transporter), member 5) is a sodium-dependent citrate co-transporter important in maintaining various metabolic processes. Mutations in SLC13A5 are associated with a citrate transport disorder, a rare neurological disease, and a rare epilepsy, developmental and epileptic encephalopathy 25 with amelogenesis imperfecta. The Slc13a5 G219R knock-in/knock-out mice express a humanized WT cDNA with the G219R missense mutation and a bGH poly(A) transcription termination signal replacing the endogenous coding exon 1 of the Slc13a5 gene. The insertion prevents translation of the mouse Slc13a5 cDNA. The G219R mutation is the most common pathogenic variant found in patients affected by the rare disease SLC13A5 Epilepsy. Heterozygous mice are viable and fertile. While homozygous mice are viable, fertility has not been tested (April 2024). These mice may be useful when studying citrate transporter disorders. If additional characterization of these mice is performed, we may modify the strain description accordingly. Of note, a control strain expressing full-length wildtype human SLC13A5 cDNA is available as Stock No. <a href="https://www.jax.org/strain/038399">071645</a>. This mouse model is available by way of a collaborative effort between Dr. Cat Lutz [The Jackson Laboratory] and TESS Research Foundation.

The use of this mouse model is subject to the terms and conditions of the Limited Use Label License from Caribou Biosciences, Inc.

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Slc13a5 G219R knock-in/knock-out (KI/KO) mice express a human SLC13A5 cDNA with a G219R missense variant. The insertion disrupts expression of endogenous Slc13a5 expression. These mice may be useful for studying neurological diseases associated with citrate transport. Of note, a control strain expressing full-length wildtype human SLC13A5 cDNA is available as Stock No. <a href="https://www.jax.org/strain/038399">071645</a>.

This strain is hosted by NIH's MMRRC, which partners with JAX for the distribution of this and other strains. For additional information and to purchase, please visit the MMRRC site.