title: Rbt (Rabo torcido), a new mouse skeletal mutation involved in anteroposterior patterning of the axial skeleton, maps close to the Ts (tail-short) locus and distal to the Sox9 locus on chromosome 11.
abstract: Rbt (Rabo torcido) is a new semidominant mouse mutant with a variety of skeletal abnormalities. Heterozygous Rbt mutants display homeotic anteroposterior patterning problems along the axial skeleton that resemble Polycomb group and trithorax gene mutations. In addition, the Rbt mutant displays strong similarities to the phenotype observed in Ts (Tail-short), indicating also a homeotically transformed phenotype in these mice. We have mapped the Rbt locus to an interval of approximately 6 cM on mouse Chromosome (Chr) 11 between microsatellite markers D11Mit128 and D11Mit103. The Ts locus was mapped within a shorter interval of approximately 3 cM between D11Mit128 and D11Mit203. This indicates that Rbt and Ts may be allelic mutations. Sox9, the human homolog of which is responsible for the skeletal malformation syndrome campomelic dysplasia, was mapped proximal to D11Mit128. It is, therefore, unlikely that Ts and Rbt are mouse models for this human skeletal disorder.
authors.affiliation: GSF Forschungszentrum für Umwelt und Gesundheit, Institut für Säugetiergenetik, Oberschleissheim, Germany.
authors.forename: E
authors.initials: E
authors.lastname: Hustert
authors.forename: G
authors.initials: G
authors.lastname: Scherer
authors.forename: M
authors.initials: M
authors.lastname: Olowson
authors.forename: J L
authors.initials: JL
authors.lastname: Guénet
authors.forename: R
authors.initials: R
authors.lastname: Balling
mesh_terms: D000818:Animals; D019521:Body Patterning / Q000235:genetics*; D001842:Bone and Bones / Q000002:abnormalities*; D002874:Chromosome Mapping; D005260:Female; D006609:High Mobility Group Proteins / Q000235:genetics*; D008297:Male; D051379:Mice; D008810:Mice, Inbred C57BL; D055758:SOX9 Transcription Factor; D013623:Tail; D014157:Transcription Factors / Q000235:genetics*; D014170:Transformation, Genetic
chemical_list: D006609:High Mobility Group Proteins; D055758:SOX9 Transcription Factor; C527932:SOX9 protein, human; C527933:Sox9 protein, mouse; D014157:Transcription Factors