Slc6a3^tm1.1Auga
Targeted Allele Detail

Summary

• Symbol: Slc6a3^tm1.1Auga
• Name: solute carrier family 6 (neurotransmitter transporter, dopamine), member 3; targeted mutation 1.1, Aurelio Galli
• MGI ID: MGI:7580777
• Synonyms: DAT T356M
• Gene: Slc6a3 Location: Chr13:73684866-73726791 bp, + strand Genetic Position: Chr13, 40.1 cM
• Alliance: Slc6a3^tm1.1Auga page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:289651
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Single point mutation
• Mutation details: Threonine codon 355 (ACG) in exon 8 was changed to methionine (ATG) (p.T355M) and a loxP site flanked neomycin resistance gene cassette was inserted into intron 7. The mutation, in the seventh transmembrane domain of the encoded peptide, is the equivalent of the human p.T356M mutation associated with autism spectrum disorder (ASD). (J:289651)

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 Slc6a3 Mutation: 71 strains or lines available

References

• Original: J:289651 DiCarlo GE, et al., Autism-linked dopamine transporter mutation alters striatal dopamine neurotransmission and dopamine-dependent behaviors. J Clin Invest. 2019 May 16;129(8):3407-3419
• All: 1 reference(s)