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Targeted Allele Detail
Symbol: Nlgn3tm1Sud
Name: neuroligin 3; targeted mutation 1, Thomas C Sudhof
MGI ID: MGI:3758949
Synonyms: NL3R451C
Gene: Nlgn3  Location: ChrX:101299168-101325963 bp, + strand  Genetic Position: ChrX, 43.95 cM
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+
Allele Type:    Targeted (Humanized sequence)
Mutation:    Single point mutation
Mutation detailsExon 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)
View phenotypes for all genotypes (concatenated display).
Disease models
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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:  15 strains or lines available
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:  6 reference(s)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 6.0
The Jackson Laboratory