A novel knockout mouse for the small EDRK-rich factor 2 (Serf2) showing developmental and other deficits

Mamm Genome. 2021 Apr;32(2):94-103. doi: 10.1007/s00335-021-09864-6. Epub 2021 Mar 13.

Abstract

The small EDRK-rich factor 2 (SERF2) is a highly conserved protein that modifies amyloid fibre assembly in vitro and promotes protein misfolding. However, the role of SERF2 in regulating age-related proteotoxicity remains largely unexplored due to a lack of in vivo models. Here, we report the generation of Serf2 knockout mice using an ES cell targeting approach, with Serf2 knockout alleles being bred onto different defined genetic backgrounds. We highlight phenotyping data from heterozygous Serf2+/- mice, including unexpected male-specific phenotypes in startle response and pre-pulse inhibition. We report embryonic lethality in Serf2-/- null animals when bred onto a C57BL/6 N background. However, homozygous null animals were viable on a mixed genetic background and, remarkably, developed without obvious abnormalities. The Serf2 knockout mice provide a powerful tool to further investigate the role of SERF2 protein in previously unexplored pathophysiological pathways in the context of a whole organism.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Age Factors
  • Alleles
  • Alternative Splicing
  • Animals
  • Cell Line
  • Developmental Disabilities / diagnosis*
  • Developmental Disabilities / genetics*
  • Disease Models, Animal
  • Embryonic Stem Cells / metabolism
  • Female
  • Gene Expression Regulation
  • Genetic Association Studies* / methods
  • Genetic Background
  • Genetic Loci
  • Genetic Predisposition to Disease*
  • Genotype
  • Intracellular Signaling Peptides and Proteins / genetics*
  • Male
  • Mice
  • Mice, Knockout
  • Organ Specificity
  • Phenotype*
  • X-Ray Microtomography

Substances

  • Intracellular Signaling Peptides and Proteins
  • Serf2 protein, mouse