Slc52a2(L341L,L344P) knock-in (KI) mice harbor a CRISPR/Cas9-induced L344P missense variant, as well as a silent L341L mutation, in exon 4 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. Mutations in the Slc52a2 gene are associated with disorders such as riboflavin transporter deficiency neuronopathy, Brown-Vialetto-Van Laere syndrome-2 (BVVLS2) and spinocerebellar ataxia with blindness. 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 and homozygous Slc52a2(L341L,L344P) mice are viable and fertile with no overt phenotype. 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.

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Slc52a2(L341L,L344P) knock-in mice have a L344P missense mutation in the Slc52a2 (solute carrier protein 52, member 2) gene, as well as a silent L341L 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.