| First Author | Girard JP 2nd | Year | 2022 |
| Journal | BMC Res Notes | Volume | 15 |
| Issue | 1 | Pages | 305 |
| PubMed ID | 36138442 | Mgi Jnum | J:340244 |
| Mgi Id | MGI:7342019 | Doi | 10.1186/s13104-022-06192-z |
| Citation | Girard JP 2nd, et al. (2022) The squiggle tail (squig) mutation in mice is associated with a deletion in the mesenchyme homeobox 1 (Meox1) gene. BMC Res Notes 15(1):305 |
| abstractText | 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 Meox1(squig), and suggest that this variant may offer an appropriate animal model for Klippel-Feil syndrome 2 (KFS2) in humans. |
