Syndactyly and preaxial synpolydactyly in the single Sfrp2 deleted mutant mice.

Abstract

Secreted Frizzled-related protein 2 (Sfrp2) or Stromal Cell Derived Factor-5 (SDF-5) is highly expressed in the developing limbs. Here we showed the single Sfrp2 inactivation in mice resulted in syndactyly and preaxial synpolydactyly, predominantly in the hindlimbs. Tails were often kinked. A penetrance of the syndactyly was highest in 129/SvJ or CBA/N x 129/SvJ background and the phenotype was haploinsufficient. Preaxial synpolydactyly was seen in homozygous mutants in C57BL/6 x 129/SvJ. Of note, syndactyly showed retarded apoptosis of the second and the third interdigital spaces; concomitantly, mesodermal Msx2 expression was down-regulated. Impaired digital anlagen maturation was also noticeable in the same position. Preaxial synpolydactyly of the Sfrp2 mutants was a non-mirror image type and Shh independent. Although joint formation was not disrupted, chondrocyte maturation was preaxially disturbed. Our results suggest that the Sfrp2 deleted mice can be a useful animal model to study human syndactyly/preaxial synpolydactyly defects.

• Authors: Masaya Ikegawa, Hua Han, Akihiko Okamoto, Ryosuke Matsui, Masami Tanaka, Natsue Omi, Mahito Miyamae, Junya Toguchida, Kei Tashiro
• Journal: Developmental dynamics : an official publication of the American Association of Anatomists (Dev Dyn) Vol. 237 Issue 9 Pg. 2506-17 (Sep 2008) ISSN: 1058-8388 [Print] United States
• PMID: 18729207 (Publication Type: Journal Article)

Chemical References

• Membrane Proteins
• Sfrp2 protein, mouse

Topics

• Animals
• Apoptosis (genetics, physiology)
• Chondrogenesis (genetics, physiology)
• Gene Expression Regulation, Developmental
• In Situ Hybridization
• Limb Deformities, Congenital (genetics, pathology)
• Membrane Proteins (genetics, physiology)
• Mice
• Mice, Mutant Strains
• Polydactyly (genetics, pathology)
• Syndactyly (genetics, pathology)