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

被引：14

作者：

Kasparek, Petr ^{[1
]}

Ileninova, Zuzana ^{[1
]}

Haneckova, Radka ^{[1
]}

Kanchev, Ivan ^{[2
]}

Jenickova, Irena ^{[2
]}

Sedlacek, Radislav ^{[1
]}

机构：

[1] Inst Mol Genet AS CR, Vvi, Dept Transgen Models Dis, Prumyslova 595, Vestec 25250, Czech Republic

[2] Czech Ctr Phenogen, Div BIOCEV, Prumyslova 595, Vestec 25250, Czech Republic

来源：

BIOLOGICAL CHEMISTRY | 2016年 / 397卷 / 12期

关键词：

mosaicism; mouse model; Netherton syndrome; skin; SPINK5; TALEN; HYPERACTIVITY; KALLIKREIN; EXPRESSION; ZYGOTES; LETHAL; MICE;

D O I：

10.1515/hsz-2016-0194

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

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.

引用

页码：1287 / 1292

页数：6

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