Slc6a8 (solute carrier family 6 (neurotransmitter transporter, creatine), member 8 or CRT) encodes a plasma membrane protein involved in the transport of creatine across the cell membrane. Mutations, such as P544L, in SLC6A8 are associated with X-linked Creatine Transport Deficiency. X-linked Creatine Transport Deficiency presents with a variety of symptoms including including intellectual delays, expressive speech and language delays, autistic-like behavior, seizures, and movement disorders. Slc6a8*P544L knockin mice were created using CRISPR/Cas9 genome editing to express the P544L (proline to leucine) amino acid (aa) substitution in the mouse 635 amino acid (aa) isoform 2 (Ensembl transcript Slc6a8-203) of the Slc6a8 locus on the X chromosome. Although a longer murine isoform is reported in other databases (Ensembl transcript Slc6a8-201), it is predicted to encode an additional 5 aa in exon 9 that are absent from the human protein. The 635 aa murine isoform 2 is syntenic to the 635 aa human isoform 1. Homozygous females and hemizygous males are viable and fertile with no obvious phenotype. At this time (January 2021), Slc6a8*P544L knock in mice have not been further characterized. Slc6a8*P544L mice may be useful for studying creatine transport and human X-linked Creatine Transporter Deficiency, mental disability, autism, and speech, language, cognitive, and memory disorders.

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Slc6a8*P544L knock in mice express the P544L (proline to leucine) amino acid (aa) substitution in murine isoform 2 of the Slc6a8 (solute carrier family 6 (neurotransmitter transporter, creatine), member 8 or CRT) locus on the X chromosome. Mutations, such as P544L, in SLC6A8 are associated with X-linked Creatine Transport Deficiency.

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