Shank3<sup>em1Bux</sup> (SH3 and multiple ankyrin repeat domains 3; ZFN induced mutant 1, Bux) - Rat Genome Database

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Gene: Shank3em1Bux (SH3 and multiple ankyrin repeat domains 3; ZFN induced mutant 1, Bux) Rattus norvegicus
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Symbol: Shank3em1Bux
Name: SH3 and multiple ankyrin repeat domains 3; ZFN induced mutant 1, Bux
RGD ID: 41404706
Description: The mutant rats were generated using zinc-finger nuclease (ZFN) technology to target exon 6 of the ankyrin repeat domain of rat Shank3. The resulting mutant has a 68-base pair deletion in exon 6 leading to a premature stop codon.
ASSOCIATED WITH Phelan-McDermid syndrome
Type: allele  of Shank3  
Previously known as: Shank3em1Bux; Shank3^[em1Bux]
Is Marker For: Strains:   SD-Shank3em1Bux  
Latest Assembly: mRatBN7.2 - mRatBN7.2 Assembly
Position: No map positions available.


Disease Annotations     Click to see Annotation Detail View

References

References - curated
# Reference Title Reference Citation
1. Oxytocin improves behavioral and electrophysiological deficits in a novel Shank3-deficient rat. Harony-Nicolas H, etal., Elife. 2017 Jan 31;6. doi: 10.7554/eLife.18904.

Genomics


Related Rat Strains
The following Strains have been annotated to Shank3em1Bux
SD-Shank3em1Bux    


Expression

RNA-SEQ Expression


Sequence

Nucleotide Sequences


Additional Information


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2021-02-04 Shank3em1Bux  SH3 and multiple ankyrin repeat domains 3; ZFN induced mutant 1, Bux  >Shank3em1Bux  SH3 and multiple ankyrin repeat domains 3; ZFN induced mutant 1, Bux  Symbol changed 629549 APPROVED