The squiggle tail (squig) mutation in mice is associated with a deletion in the mesenchyme homeobox 1 (Meox1) gene

BMC Res Notes. 2022 Sep 23;15(1):305. doi: 10.1186/s13104-022-06192-z.

Abstract

Objective: We have taken a positional approach to assign the spontaneous squiggle tail (squig) mutation in mice to a specific gene defect.

Results: A large panel of backcross mice was produced and characterized to map squig to high genetic resolution on mouse Chromosome (Chr) 11. Two overlapping candidate genes that co-localized with squig (Meox1, for mesenchyme homeobox 1; and Gm11551, which encodes a lncRNA located entirely within the first intron of Meox1) were fully sequenced to discover any squig-specific defects. This analysis revealed a 3195 bp deletion that includes all of Meox1, Exon 1 but does not disrupt Gm11551. We recommend that the squig mutation be renamed Meox1squig, and suggest that this variant may offer an appropriate animal model for Klippel-Feil syndrome 2 (KFS2) in humans.

Keywords: Deletion mutation; Klippel-Feil syndrome 2; Positional cloning; Tail variant.

MeSH terms

  • Animals
  • Genes, Homeobox
  • Homeodomain Proteins* / genetics
  • Mesoderm
  • Mice
  • Mutation
  • RNA, Long Noncoding*
  • Tail
  • Transcription Factors* / genetics

Substances

  • Homeodomain Proteins
  • Meox1 protein, mouse
  • RNA, Long Noncoding
  • Transcription Factors