Mouse model of split hand/foot malformation type I

Giorgio R. Merlo, Laura Paleari, Stefano Mantero, Francesca Genova, Annemiek Beverdam, Giulio L. Palmisano, Ottavia Barbieri, Giovanni Levi

Research output: Contribution to journalArticlepeer-review


Split hand/foot malformation type I (SHFM1) disease locus maps to chromosome 7q21.3-q22, a region that includes the distal-less-related (dll) genes DLX5 and DLX6. However, incomplete penetrance, variable expressivity, segregation distortion, and syndromic association with other anomalies have so far prevented the identification of the SHFM1 gene(s) in man. Here we show that the targeted double inactivation of Dlx5 and Dlx6 in the mouse causes in homozygous mutant animals bilateral ectrodactyly with a severe defect of the central ray of the hindlimbs, a malformation typical of SHFM1. This is the first evidence that the role of dll/Dlx genes in appendage development is conserved from insects to mammals and proves their involvement in SHFM1.

Original languageEnglish
Pages (from-to)97-101
Number of pages5
Issue number2
Publication statusPublished - 2002


  • Dlx
  • Ectrodactyly
  • Homeogene
  • Limb malformation
  • SHFM1

ASJC Scopus subject areas

  • Genetics


Dive into the research topics of 'Mouse model of split hand/foot malformation type I'. Together they form a unique fingerprint.

Cite this