Mouse mutant “rib‐vertebrae” (rv): A defect in somite polarity

Nacke, S; Schafer, Rosana; Angelis, M Habré de; Mundlos, Stefan

doi:10.1002/1097-0177(2000)9999:9999<::aid-dvdy1046>3.0.co;2-9

Cited by 37 publications

(30 citation statements)

References 59 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Results were confirmed testing three mutant embryos for each stage and probe and compared with wt. Sections of whole-mount stained embryos were performed as described previously (Nacke et al, 2000).…”

Section: In Situ Hybridizationmentioning

confidence: 99%

Ror2 knockout mouse as a model for the developmental pathology of autosomal recessive Robinow syndrome

Schwabe

Trepczik

Süring

et al. 2004

Developmental Dynamics

120

113

View full text Add to dashboard Cite

Robinow syndrome (RS) is a human dwarfism syndrome characterized by mesomelic limb shortening, vertebral and craniofacial malformations and small external genitals. We have analyzed Ror2 -/-mice as a model for the developmental pathology of RS. Our results demonstrate that vertebral malformations in Ror2 -/-mice are due to reductions in the presomitic mesoderm and defects in somitogenesis. Mesomelic limb shortening in Ror2 -/-mice is a consequence of perturbed chondrocyte differentiation. Moreover, we show that the craniofacial phenotype is caused by a midline outgrowth defect. Ror2 expression in the genital tubercle and its reduced size in Ror2 -/-mice makes it likely that Ror2 is involved in genital development. In conclusion, our findings suggest that Ror2 is essential at multiple sites during development. The Ror2 -/-mouse provides a suitable model that may help to explain many of the underlying developmental malformations in individuals with Robinow syndrome. Developmental Dynamics 229: 400 -410, 2004.

show abstract

Section: In Situ Hybridizationmentioning

confidence: 99%

Ror2 knockout mouse as a model for the developmental pathology of autosomal recessive Robinow syndrome

Schwabe

Trepczik

Süring

et al. 2004

Developmental Dynamics

120

113

View full text Add to dashboard Cite

show abstract

“…Dll1 tm1Gos and rib-vertebrae (rv) mutant mice were obtained from Jackson Laboratories and are maintained on a C57Bl6/J background (Beckers et al, 2000b;Hrabe de Angelis et al, 1997;Nacke et al, 2000). The two Tbx6 transgenic lines (Tg46 and Tg130) are maintained on both FVB/N and a mixed genetic background.…”

Section: Micementioning

confidence: 99%

Defective somite patterning in mouse embryos with reduced levels ofTbx6

et al. 2003

View full text Add to dashboard Cite

During vertebrate embryogenesis, paraxial mesoderm gives rise to somites, which subsequently develop into the dermis, skeletal muscle, ribs and vertebrae of the adult. Mutations that disrupt the patterning of individual somites have dramatic effects on these tissues, including fusions of the ribs and vertebrae. The T-box transcription factor, Tbx6, is expressed in the paraxial mesoderm but is downregulated as somites develop. It is essential for the formation of posterior somites, which are replaced with ectopic neural tubes in Tbx6-null mutant embryos. We show that partial restoration of Tbx6 expression in null mutants rescues somite development, but that rostrocaudal patterning within them is defective, ultimately resulting in rib and vertebral fusions, demonstrating that Tbx6 activity in the paraxial mesoderm is required not simply for somite specification but also for their normal patterning. Somite patterning is dependent upon Notch signaling and we show that Tbx6 genetically interacts with the Notch ligand, deltalike 1 (Dll1). Dll1 expression, which is absent in the Tbx6-null mutant, is restored at reduced levels in the partially rescued mutants, suggesting that Dll1 is a target of Tbx6. We also identify the spontaneous mutation rib-vertebrae as a hypomorphic mutation in Tbx6. The similarity in the phenotypes we describe here and that of some human birth defects, such as spondylocostal dysostosis, raises the possibility that mutations in Tbx6 or components of this pathway may be responsible for these defects.

show abstract

“…Tbx6, tion in Tbx6 are embryonically lethal at mid-gestation due to a deficiency of caudal somites (Chapman and Papaioannou, 1998). Moreover, mice that carry a hypomorphic allele of Tbx6 show disruption of the anteroposterior polarity of their somites (Beckers et al, 2000;Nacke et al, 2000;Theiler and Varnum, 1985;Watabe-Rudolph et al, 2002;White et al, 2003). These findings underline the requirement of Tbx6 for somite formation.…”

Section: Introductionmentioning

confidence: 99%

The Xenopus Bowline/Ripply family proteins negatively regulate the transcriptional activity of T-box transcription factors

et al. 2009

View full text Add to dashboard Cite

Bowline, which is a member of the Xenopus Bowline/Ripply family of proteins, represses the transcription of somitogenesis-related genes before somite segmentation, which makes Bowline indispensable for somitogenesis. Although there are three bowline/Ripply family genes in each vertebrate species, it is not known whether the Bowline/Ripply family proteins share a common role in development. To elucidate their developmental roles, we examined the expression patterns and functions of the Xenopus Bowline/Ripply family proteins Bowline, Ledgerline, and a novel member of this protein family, xRipply3. We found that the expression patterns of bowline and ledgerline overlapped in the presomitic mesoderm (PSM), whereas ledgerline was additionally expressed in the newly formed somites. In addition, we isolated xRipply3, which is expressed in the pharyngeal region. Co-immunoprecipitation assays revealed that Ledgerline and xRipply3 interacted with T-box proteins and the transcriptional co-repressor Groucho/TLE. In luciferase assays, xRipply3 weakly suppressed the transcriptional activity of Tbx1, while Ledgerline strongly suppressed that of Tbx6. In line with the repressive role of Ledgerline, knockdown of Ledgerline resulted in enlargement of expression regions of the somitogenesis-related-genes mespb and Tbx6. Inhibition of histone deacetylase activity increased the expression of mespb, as seen in the Bowline and Ledgerline knockdown experiments. These results suggest that the Groucho-HDAC complex is required for the repressive activity of Bowline/Ripply family proteins during Xenopus somitogenesis. We conclude that although the Xenopus Bowline/Ripply family proteins Bowline, Ledgerline and xRipply3 are expressed differentially, they all act as negative regulators of T-box proteins.

show abstract

Mouse mutant “rib‐vertebrae” (rv): A defect in somite polarity

Abstract: Preference for polar adsorbates: The crystalline porous organic cage compound shown has an exceptional high surface area (1566 m2 g−1) and selective gas uptake. The compound preferably adsorbs CO2 (9.4 wt %) over methane (0.98 wt %).

Cited by 37 publications

References 59 publications

Ror2 knockout mouse as a model for the developmental pathology of autosomal recessive Robinow syndrome

Ror2 knockout mouse as a model for the developmental pathology of autosomal recessive Robinow syndrome

Defective somite patterning in mouse embryos with reduced levels ofTbx6

The Xenopus Bowline/Ripply family proteins negatively regulate the transcriptional activity of T-box transcription factors

Contact Info

Product

Resources

About