A viable mouse model for Netherton syndrome based on mosaic inactivation of the Spink5 gene

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F68378050%3A_____%2F16%3A00472133" target="_blank" >RIV/68378050:_____/16:00472133 - isvavai.cz</a>
Result on the web
<a href="http://dx.doi.org/10.1515/hsz-2016-0194" target="_blank" >http://dx.doi.org/10.1515/hsz-2016-0194</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1515/hsz-2016-0194" target="_blank" >10.1515/hsz-2016-0194</a>

Result language
angličtina
Original language name
A viable mouse model for Netherton syndrome based on mosaic inactivation of the Spink5 gene
Original language description
Netherton syndrome (NS) is caused by mutations in the SPINK5 gene. Several Spink5-deficient mouse models were generated to understand the mechanisms of NS in vivo. However, Spink5-deficiency in mice is associated with postnatal lethality that hampers further analysis. Here we present a viable mouse model for NS generated by mosaic inactivation of the Spink5 gene. We propose that these mice are a valuable experimental tool to study NS, especially for long-term studies evaluating potential therapeutic compounds. Furthermore, we show that mosaic inactivation of a gene using TALENs or CRISPR/Cas9 systems can be used to study lethal phenotypes in adult mice.
Czech name
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Czech description
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Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
EB - Genetics and molecular biology
OECD FORD branch
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Project
Result was created during the realization of more than one project. More information in the Projects tab.
Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year
2016
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

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