Mammalian Genome

, Volume 17, Issue 9, pp 903–913

Description and genetic mapping of Polypodia: an X-linked dominant mouse mutant with ectopic caudal limbs and other malformations

  • Jessica A. Lehoczky
  • Wei-Wen Cai
  • Julie A. Douglas
  • Jennifer L. Moran
  • David R. Beier
  • Jeffrey W. Innis
Original Contributions

DOI: 10.1007/s00335-006-0041-7

Cite this article as:
Lehoczky, J.A., Cai, WW., Douglas, J.A. et al. Mamm Genome (2006) 17: 903. doi:10.1007/s00335-006-0041-7
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Abstract

In this report we present a spontaneous mouse mutant, named Polypodia (Ppd), that primarily exhibits ectopic, ventral/caudal limbs and associated pelvic girdle malformation or duplication. Less penetrant features include diphallia, microphthalmia, small kidney, curled or kinked tail, forelimb anomaly, and skin papillae. Ppd mice have a normal karyotype and no large-scale genomic deletions or insertions by BAC-based array comparative genomic hybridization (CGH). Ppd is X-linked dominant with approximately 20% penetrance on the C3H background and maps to X:61.6 Mb-X:71.24 Mb. The limb and a subset of the nonlimb anomalies are similar to those in offspring from retinoic acid–treated dams at E4.5–5.5 and feature overlap with the Disorganization mouse mutant and human patients with ectopic legs. We hypothesize that Ppd affects very early steps in the formation of caudal structures including limb and appendage number. The existence of noncaudal anomalies implies the involvement of Ppd in a broad array of cell fate decisions.

Supplementary material

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Supplementary material

Copyright information

© Springer Science+Business Media, Inc. 2006

Authors and Affiliations

  • Jessica A. Lehoczky
    • 1
  • Wei-Wen Cai
    • 2
  • Julie A. Douglas
    • 1
  • Jennifer L. Moran
    • 3
  • David R. Beier
    • 3
  • Jeffrey W. Innis
    • 1
    • 4
    • 5
  1. 1.Department of Human GeneticsUniversity of MichiganAnn ArborUSA
  2. 2.Department of Molecular and Human GeneticsBaylor College of MedicineHoustonUSA
  3. 3.Genetics DivisionBrigham and Women’s Hospital, Harvard Medical SchoolBostonUSA
  4. 4.Department of PediatricsUniversity of MichiganAnn ArborUSA
  5. 5.Department of Human GeneticsUniversity of MichiganAnn ArborUSA