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B6;129-Nlgn3tm1Sud/J
Cat. No.: CEMM-07250110
Common Name: AU4
These mice carry an R451C mutation in exon 7 of the Nlgn3 (neuroligin 3) gene. mRNA is detected by real-time PCR analysis of brain from homozygous animals. Mutant mice exhibit enhancements in inhibitory synaptic transmission as well as spacial learning and memory, but show deficits in social interaction. This mutant mouse strain may be useful in studies of the pathophysiology of autism. Exon 7 is additionally flanked by loxP sites. When used in conjunction with a Cre recombinase-expressing strain, this strain is useful in generating tissue-specific mutants of the floxed allele. Mice that are homozygous for the targeted mutation are viable, fertile, normal in size and do not display any gross physical abnormalities.
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| Status | Live Mouse Frozen Embryo |
| Age | 4 weeks 12 weeks Customized Age |
| Sex | Male Female |
| GENETICS | |
|---|---|
| Allele Symbol |
Nlgn3tm1Sud
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| Allele Name |
targeted mutation 1
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| Allele Attributes |
Humanized sequence
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| Gene Symbol |
Nlgn3
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| Gene Name |
neuroligin 3
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| Chromosome |
X
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| MGI Accession ID | show more close |
| Strain of Origin |
(129X1/SvJ x 129S1/Sv)F1-Kitl+
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| Molecular Note |
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.
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| HUSBANDRY | |
|---|---|
| Suggested Controls |
B6129SF1/J B6129SF2/J
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| Breeding Considerations |
This targeted mutation is located on the X chromosome. When maintaining a live distribution colony, heterozygous females may be bred with hemizygous males. In order to keep some of the mice ideally suited for use when deletion of the floxed-mutant exon 7 is planned, some of the colony may be maintained by breeding homozygous females to hemizygous males.
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For Research Use Only.
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