Slc52a2L317P knock-in (KI) mice harbor a CRISPR/Cas9-induced L317P missense variant in exon 3 of the solute carrier protein 52, member 2 (Slc52a2) gene. 
 The Slc52a2 gene encodes a transmembrane protein which belongs to the riboflavin transporter family and mediates cellular uptake of riboflavin. The L317P point mutation in mouse corresponds to the human L312P point mutation, associated with Riboflavin Transporter Deficiency type 2 (also known as Brown-Vialetto-Van Laere syndrome-2 or Fazio-Londe syndrome). When fed LabDiet formula <a href="https://www.labdiet.com/product/detail/5k52-labdiet-jl-rat-and-mouse-auto-6f#:~:text=LabDiet%C2%AE%205K52%20comes%20in,Laboratory%2C%20containing%206%FAt.">5K52</a>, heterozygous Slc52a2L317P mice are viable and fertile with no overt phenotype. Homozygous mice are embryonic lethal. The donating laboratory confirmed that expression of Slc52a2 in brain tissue was not significantly different from endogenous wildtype expression in heterozygous animals. If additional characterization of these mice is performed, we may modify the strain description accordingly.

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

The use of this mouse strain or other product (the "Licensed Product") is subject to the terms and conditions of the Limited License from The Broad Institute.

Slc52a2L317P knock-in mice have a L317P point mutation in the Slc52a2 (solute carrier protein 52, member 2) gene, which corresponds to the human L312P missense mutation. This strain may be useful for studying riboflavin transporter deficiency neuronopathy.

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.