Slc6a4^tm2.1Rbl
Targeted Allele Detail

Summary

• Symbol: Slc6a4^tm2.1Rbl
• Name: solute carrier family 6 (neurotransmitter transporter, serotonin), member 4; targeted mutation 2.1, Randy D Blakely
• MGI ID: MGI:5521182
• Synonyms: SERT Ala56, Slc6a4 56Ala
• Gene: Slc6a4 Location: Chr11:76889429-76923166 bp, + strand Genetic Position: Chr11, 46.18 cM
• Alliance: Slc6a4^tm2.1Rbl page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:202521
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129S6/SvEvTac

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: A targeted mutation in exon 2 resulted in the amino acid substitution of alanine for glycine at position 56 (G56A). Cre-mediated recombination removed the floxed neomycin resistance cassette inserted downstream of exon 4. (J:202521)

Disease models

Expression

In Structures Affected by this Mutation:

6 anatomical structure(s)

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 Slc6a4 Mutation: 51 strains or lines available

Notes

This allele represents an autism spectrum disorder (ASD) susceptibility variant, rather than a highly penetrant, monogenic cause of ASD and mice are not expected to model all aspects of ASD (J:202876).

References

• Original: J:202521 Veenstra-Vanderweele J, et al., Modeling rare gene variation to gain insight into the oldest biomarker in autism: construction of the serotonin transporter Gly56Ala knock-in mouse. J Neurodev Disord. 2009 Jun;1(2):158-71
• All: 10 reference(s)