title: A viable mouse model for Netherton syndrome based on mosaic inactivation of the Spink5 gene.
abstract: 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.
authors.forename: Petr
authors.initials: P
authors.lastname: Kasparek
authors.forename: Zuzana
authors.initials: Z
authors.lastname: Ileninova
authors.forename: Radka
authors.initials: R
authors.lastname: Haneckova
authors.forename: Ivan
authors.initials: I
authors.lastname: Kanchev
authors.forename: Irena
authors.initials: I
authors.lastname: Jenickova
authors.forename: Radislav
authors.initials: R
authors.lastname: Sedlacek
mesh_terms: D000818:Animals; D004195:Disease Models, Animal; D005260:Female; D020868:Gene Silencing; D008297:Male; D051379:Mice; D008810:Mice, Inbred C57BL; D009030:Mosaicism; D056770:Netherton Syndrome / Q000235:genetics*; D010641:Phenotype; D000074163:Serine Peptidase Inhibitor Kazal-Type 5; D015843:Serpins / Q000172:deficiency* / Q000235:genetics*
chemical_list: D000074163:Serine Peptidase Inhibitor Kazal-Type 5; D015843:Serpins; C495972:Spink5 protein, mouse