Widespread discrepancy in Nnt genotypes and genetic backgrounds complicates granzyme A and other knockout mouse studies

Elife. 2022 Feb 4:11:e70207. doi: 10.7554/eLife.70207.

Abstract

Granzyme A (GZMA) is a serine protease secreted by cytotoxic lymphocytes, with Gzma-/- mouse studies having informed our understanding of GZMA's physiological function. We show herein that Gzma-/- mice have a mixed C57BL/6J and C57BL/6N genetic background and retain the full-length nicotinamide nucleotide transhydrogenase (Nnt) gene, whereas Nnt is truncated in C57BL/6J mice. Chikungunya viral arthritis was substantially ameliorated in Gzma-/- mice; however, the presence of Nnt and the C57BL/6N background, rather than loss of GZMA expression, was responsible for this phenotype. A new CRISPR active site mutant C57BL/6J GzmaS211A mouse provided the first insights into GZMA's bioactivity free of background issues, with circulating proteolytically active GZMA promoting immune-stimulating and pro-inflammatory signatures. Remarkably, k-mer mining of the Sequence Read Archive illustrated that ≈27% of Run Accessions and ≈38% of BioProjects listing C57BL/6J as the mouse strain had Nnt sequencing reads inconsistent with a C57BL/6J genetic background. Nnt and C57BL/6N background issues have clearly complicated our understanding of GZMA and may similarly have influenced studies across a broad range of fields.

Keywords: C57BL/6J; C57BL/6N; chikungunya; granzyme A; immunology; inflammation; mouse; nicotinamide nucleotide transhydrogenase; viruses.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Arthritis / virology
  • Chikungunya Fever / genetics
  • Chikungunya virus
  • Disease Models, Animal
  • Genetic Background
  • Genotype
  • Granzymes / genetics*
  • Granzymes / metabolism
  • Mice
  • Mice, Inbred C57BL
  • Mice, Knockout / genetics*
  • NADP Transhydrogenases / genetics*
  • NADP Transhydrogenases / metabolism

Substances

  • NADP Transhydrogenases
  • Granzymes

Grants and funding

The funders had no role in study design, data collection and interpretation, or the decision to submit the work for publication.