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

0472133 - ÚMG 2017 RIV DE eng J - Článek v odborném periodiku
Kašpárek, Petr - Ileninová, Zuzana - Hanečková, Radka - Kanchev, Ivan - Jeníčková, Irena - Sedláček, Radislav
A viable mouse model for Netherton syndrome based on mosaic inactivation of the Spink5 gene.
Biological Chemistry. Roč. 397, č. 12 (2016), s. 1287-1292. ISSN 1431-6730. E-ISSN 1437-4315
Grant CEP: GA MŠMT(CZ) ED1.1.00/02.0109; GA MŠMT(CZ) LQ1604; GA MŠMT(CZ) LM2011032; GA MŠMT(CZ) LO1509
Institucionální podpora: RVO:68378050
Klíčová slova: mosaicism * mouse model * netherton syndrome * skin * SPINK5 * TALEN
Kód oboru RIV: EB - Genetika a molekulární biologie
Impakt faktor: 3.273, rok: 2016

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.
Trvalý link: http://hdl.handle.net/11104/0270339