Craniofacial malformation in R-spondin2 knockout mice

Wakako Yamada, Kenji Nagao, Kaori Horikoshi, Ayako Fujikura, Eiji Ikeda, Yoshimasa Inagaki, Makoto Kakitani, Kazuma Tomizuka, Hiroshi Miyazaki, Toshio Suda, Keiyo Takubo

Research output: Contribution to journalArticlepeer-review

67 Citations (Scopus)


In vertebrates, craniofacial formation is accomplished by synergistic interaction of many small elements which are generated independently from distinct germ layers. Because of its complexity, the imbalance of one signaling cascade such as Wnt/β-catenin pathway easily leads to craniofacial malformation, which is the most frequent birth defect in humans. To investigate the developmental role of a newly identified activator of Wnt/β-catenin signaling, Rspo2, we generated and characterized Rspo2-/- mice. We found CLP with mild facial skeletal defects in Rspo2-/- mice. Additionally, Rspo2-/- mice also exhibited distal limb loss and lung hypoplasia, and died immediately after birth with respiratory failure. We showed the apparent reduction of Wnt/β-catenin signaling activity at the branchial arch and the apical ectodermal ridge in Rspo2-/- mice. These findings indicate that Rspo2 regulates midfacial, limb, and lung morphogenesis during development through the Wnt/β-catenin signaling.

Original languageEnglish
Pages (from-to)453-458
Number of pages6
JournalBiochemical and Biophysical Research Communications
Issue number3
Publication statusPublished - 2009 Apr 10


  • Craniofacial development
  • Neural crest
  • R-spondin2
  • Wnt/β-catenin signal

ASJC Scopus subject areas

  • Biophysics
  • Biochemistry
  • Molecular Biology
  • Cell Biology


Dive into the research topics of 'Craniofacial malformation in R-spondin2 knockout mice'. Together they form a unique fingerprint.

Cite this