The squiggle tail gene

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

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Bibliographic Details
Published inBMC research notes Vol. 15; no. 1
Main Authors Girard, Jon P, Tomasiello, Jacqueline F, Samuel-Constanzo, Juan I, Montero, Nia, Kendra, Angelina M, King, Thomas R
Format Journal Article
LanguageEnglish
Published BioMed Central Ltd 23.09.2022
Subjects
Analysis
Chromosome deletion
Gene mutations
Homeobox genes
Homeotic genes
Influence
Physiological aspects
United States
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Summary:We have taken a positional approach to assign the spontaneous squiggle tail (squig) mutation in mice to a specific gene defect. 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.sup.squig, and suggest that this variant may offer an appropriate animal model for Klippel-Feil syndrome 2 (KFS2) in humans.
ISSN:1756-0500
1756-0500
DOI:10.1186/s13104-022-06192-z