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Asymmetric limb malformations in a new transgene insertional mutant, footless
Sheila M Bell1, Claire M Schreiner, Karla A Hess
1Division of Developmental Biology, Children's Hospital Medical Center, 3333 Burnet Avenue, Cincinnati, OH 45229, USA. sheila.bell@cchmc.org
Mechanisms of Development
|June 5, 2003
Summary
The Footless mouse mutant exhibits limb malformations due to transgene insertion. This study details its asymmetric limb truncations and developmental abnormalities.
Area of Science:
- Developmental Biology
- Genetics
- Teratology
Background:
- Transgene insertion can cause insertional mutagenesis, leading to novel phenotypes.
- Understanding gene function in limb development is crucial for identifying causes of congenital malformations.
Purpose of the Study:
- To characterize the Footless mouse mutant, a novel insertional mutant.
- To investigate the limb malformations and underlying developmental defects in Footless homozygotes.
Main Methods:
- Generation and characterization of the Footless mouse mutant.
- Phenotypic analysis of limb, kidney, and soft palate malformations.
- In situ hybridization to examine gene expression patterns in mutant limb buds.
Main Results:
- Footless homozygotes display asymmetric limb truncations affecting hindlimbs and forelimbs.
- Gene expression analysis revealed normal limb axis establishment but apical ectodermal ridge dysmorphology.
- Specific gene expression patterns (Shh, dHand, Msx2, Fgf8, En1, Lmx1b) were assessed.
Conclusions:
- The Footless mutation disrupts normal limb development, leading to specific truncation patterns.
- Apical ectodermal ridge abnormalities are implicated in the observed limb malformations.
- This mutant provides a model for studying genetic factors in limb development and congenital defects.