Number of the records: 1
A viable mouse model for Netherton syndrome based on mosaic inactivation of the Spink5 gene
- 1.
SYSNO ASEP 0472133 Document Type J - Journal Article R&D Document Type Journal Article Subsidiary J Článek ve WOS Title A viable mouse model for Netherton syndrome based on mosaic inactivation of the Spink5 gene Author(s) Kašpárek, Petr (UMG-J)
Ileninová, Zuzana (UMG-J)
Hanečková, Radka (UMG-J)
Kanchev, Ivan (UMG-J) RID
Jeníčková, Irena (UMG-J)
Sedláček, Radislav (UMG-J) RIDNumber of authors 6 Source Title Biological Chemistry. - : Walter de Gruyter - ISSN 1431-6730
Roč. 397, č. 12 (2016), s. 1287-1292Number of pages 6 s. Language eng - English Country DE - Germany Keywords mosaicism ; mouse model ; netherton syndrome ; skin ; SPINK5 ; TALEN Subject RIV EB - Genetics ; Molecular Biology R&D Projects ED1.1.00/02.0109 GA MŠMT - Ministry of Education, Youth and Sports (MEYS) LQ1604 GA MŠMT - Ministry of Education, Youth and Sports (MEYS) LM2011032 GA MŠMT - Ministry of Education, Youth and Sports (MEYS) LO1509 GA MŠMT - Ministry of Education, Youth and Sports (MEYS) Institutional support UMG-J - RVO:68378050 UT WOS 000387888700009 DOI 10.1515/hsz-2016-0194 Annotation 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. Workplace Institute of Molecular Genetics Contact Nikol Škňouřilová, nikol.sknourilova@img.cas.cz, Tel.: 241 063 217 Year of Publishing 2017
Number of the records: 1