The squiggle tail (squig) mutation in mice is associated with a deletion in the mesenchyme homeobox 1 (Meox1) gene-Reference-Cited by-同舟云学术

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

Published:2022-09-23 Issue:1 Volume:15 Page:
ISSN:1756-0500
Container-title:BMC Research Notes
language:en
Short-container-title:BMC Res Notes

Author:

Girard Jon P.,Tomasiello Jacqueline F.,Samuel-Constanzo Juan I.,Montero Nia,Kendra Angelina M.,King Thomas R.^ORCID

Abstract

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.

Funder

Connecticut State Colleges and University System

Central Connecticut State University

Publisher

Springer Science and Business Media LLC

Subject

General Biochemistry, Genetics and Molecular Biology,General Medicine

Link

https://link.springer.com/content/pdf/10.1186/s13104-022-06192-z.pdf

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