Nlgn3^tm1Sud
Targeted Allele Detail

Summary

• Symbol: Nlgn3^tm1Sud
• Name: neuroligin 3; targeted mutation 1, Thomas C Sudhof
• MGI ID: MGI:3758949
• Synonyms: NL3^R451C
• Gene: Nlgn3 Location: ChrX:100342785-100364956 bp, + strand Genetic Position: ChrX, 43.95 cM
• Alliance: Nlgn3^tm1Sud page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:125344
• Parent Cell Line: R1 (ES Cell)
• Strain of Origin: (129X1/SvJ x 129S1/Sv)F1-Kitl⁺

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: Exon 7 was replaced with an exon 7 carrying an arginine to cysteine amino acid substitution at position 451 (R451C). A neo cassette used as a selectable marker was removed via flip-mediated recombination leaving a floxed exon 7 carrying the mutation. The R451C substitution in the extracellular esterase-homology domain that results in increased endoplasmic reticulum retention in humans with autism spectrum disorder. PCR was used to confirm the insertion. Western blot analysis reveal a decrease in protein expression to 10% of wild-type levels. Authors state that this mutation is likely to cause a gain-of-function mutation. (J:125344)

Disease models

Find Mice (IMSR)

• 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 Nlgn3 Mutation: 36 strains or lines available

References

• Original: J:125344 Tabuchi K, et al., A neuroligin-3 mutation implicated in autism increases inhibitory synaptic transmission in mice. Science. 2007 Oct 5;318(5847):71-6
• All: 28 reference(s)