Development of a rabbit model of Wiskott-Aldrich syndrome

FASEB J. 2021 Feb;35(2):e21226. doi: 10.1096/fj.202002118RR. Epub 2020 Nov 25.

Abstract

The Wiskott-Aldrich syndrome (WAS) is a severe recessive X-linked immunodeficiency resulting from loss-of-function mutations in the WAS gene. Mouse is the only mammalian model used for investigation of WAS pathogenesis. However, the mouse model does not accurately recapitulate WAS clinical phenotypes, thus, limiting its application in WAS clinical research. Herein, we report the generation of WAS knockout (KO) rabbits via embryo co-injection of Cas9 mRNA and a pair of sgRNAs targeting exons 2 and 7. WAS KO rabbits exhibited many symptoms similar to those of WAS patients, including thrombocytopenia, bleeding tendency, infections, and reduced numbers of T cell in the spleen and peripheral blood. The WAS KO rabbit model provides a new valuable tool for preclinical trials of WAS treatment.

Keywords: CRISPR; Wiskott-Aldrich syndrome; rabbit; thrombocytopenia.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • CRISPR-Cas Systems
  • Disease Models, Animal*
  • Gene Knockout Techniques / methods
  • Phenotype
  • Rabbits*
  • Wiskott-Aldrich Syndrome / genetics*
  • Wiskott-Aldrich Syndrome / pathology
  • Wiskott-Aldrich Syndrome Protein / genetics*

Substances

  • Wiskott-Aldrich Syndrome Protein