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Related Experiment Videos

Mouse model of split hand/foot malformation type I.

Giorgio R Merlo1, Laura Paleari, Stefano Mantero

  • 1Telethon Laboratory-CBA, Dulbecco Telethon Medical Institute DTMI, Genova, Italy.

Genesis (New York, N.Y. : 2000)
|July 12, 2002
PubMed
Summary

Genetic inactivation of Dlx5 and Dlx6 genes in mice caused split hand/foot malformation, confirming their role in this congenital disorder. This finding highlights the conserved function of these genes in limb development across species.

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Area of Science:

  • Developmental Biology
  • Genetics
  • Human Disease Genetics

Background:

  • Split hand/foot malformation type I (SHFM1) is a congenital disorder affecting limb development.
  • The SHFM1 disease locus is mapped to chromosome 7q21.3-q22, containing DLX5 and DLX6 genes.
  • Previous studies faced challenges in identifying specific SHFM1 genes due to incomplete penetrance and variable expressivity.

Purpose of the Study:

  • To investigate the role of DLX5 and DLX6 genes in limb development.
  • To determine if Dlx5 and Dlx6 inactivation in mice recapitulates SHFM1 phenotypes.
  • To establish the involvement of DLX genes in SHFM1.

Main Methods:

  • Targeted double inactivation of Dlx5 and Dlx6 genes in a mouse model.
  • Phenotypic analysis of homozygous mutant animals, focusing on limb development.

Related Experiment Videos

  • Comparative analysis with human SHFM1 cases and conserved gene functions.

    • Main Results:

    • Homozygous Dlx5/Dlx6 mutant mice exhibited bilateral ectrodactyly, a hallmark of SHFM1.
    • A severe defect in the central ray of the hindlimbs was observed in mutant mice.
    • These results provide direct evidence for the involvement of Dlx5 and Dlx6 in SHFM1.

    Conclusions:

    • The targeted inactivation of Dlx5 and Dlx6 in mice successfully models SHFM1.
    • This study demonstrates the conserved role of distal-less related (dll)/Dlx genes in appendage development from insects to mammals.
    • DLX5 and DLX6 are implicated as causative or contributing genes in human SHFM1.