Summary | Mutation origin | Mutation description | Find Mice (IMSR) | References

Symbol:	Slc6a8em1Jnana
Name:	solute carrier family 6 (neurotransmitter transporter, creatine), member 8; endonuclease-mediated mutation 1, Jnana Therapeutics
MGI ID:	MGI:6490293
Synonyms:	Slc6a8*P544L
Gene:	Slc6a8  Location: ChrX:72716756-72726108 bp, + strand  Genetic Position: ChrX, 37.38 cM
Alliance:	Slc6a8em1Jnana page

Strain of Origin:

C57BL/6J

Allele Type:    Endonuclease-mediated (Humanized sequence) Mutation:    Nucleotide substitutions   Mutation details: CRISPR/Cas9 endonuclease-mediated genome editing is used to create an amino acid substitution at position 544 (proline to leucine, P544L, CCA to CTG) in the 635 amino acid (aa) isoform 2 (Ensembl transcript Slc6a8-203). The 635 aa murine isoform 2 is syntenic to the 635 aa human isoform 1. (J:101977)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Slc6a8 Mutation:	10 strains or lines available

Original:	J:101977 The Jackson Laboratory, Information obtained from The Jackson Laboratory, Bar Harbor, ME. Unpublished. 2005-2017;
All:	1 reference(s)