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| Nomenclature |
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Symbol:
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Nlgn3tm1Sud
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Name:
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neuroligin 3;
targeted mutation 1, Thomas Sudhof
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MGI ID: |
MGI:3758949 |
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Synonyms: |
NL3R451C |
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Gene:
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Nlgn3
Location:
ChrX:101299168-101325963 bp, + strand
Genetic Position: ChrX,
43.95 cM
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:125344
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Parent Cell Line:
| R1 (ES Cell) |
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Strain of Origin:
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(129X1/SvJ x 129S1/Sv)F1-Kitl+
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Mutation
description |
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Allele
Type: | |
Targeted (knock-in) |
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Mutation: | |
Single point mutation |
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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)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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| References |
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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
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All: |
3 reference(s)
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Analysis Tools
