Slc6a17^em2Bcgen
Endonuclease-mediated Allele Detail

Summary

• Symbol: Slc6a17^em2Bcgen
• Name: solute carrier family 6 (neurotransmitter transporter), member 17; endonuclease-mediated mutation 2, Biocytogen LLC
• MGI ID: MGI:8472101
• Synonyms: Slc6a17^P633R
• Gene: Slc6a17 Location: Chr3:107374864-107425334 bp, - strand Genetic Position: Chr3, 46.83 cM, cytoband F2.3
• Alliance: Slc6a17^em2Bcgen page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Endonuclease-mediated (Epitope tag, Humanized sequence)
• Mutations: Insertion, Nucleotide substitutions
• Mutation details:

  CRISPR/Cas9-mediated recombination replaced exon 12 with exon 12 containing a proline to arginine substitution at amino acid 633 (p.P633R), and three repeats of the hemagglutinin (HA) epitope sequence and three repeats of the FLAG tag sequence fused in-frame to the C terminus. This is a pathogenic point mutation in intellectual disability individuals. (J:344886)

Disease models

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Slc6a17 Mutation: 34 strains or lines available

References

• Original: J:344886 Jia X, et al., Importance of glutamine in synaptic vesicles revealed by functional studies of SLC6A17 and its mutations pathogenic for intellectual disability. Elife. 2023 Jul 13;12
• All: 1 reference(s)