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.
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Acknowledgments
The authors are grateful for the help of Thom Saunders and Galina Gavrilina of the University of Michigan Transgenic Animal Model Core and the help of Bob Lyons and Suzanne Genik of the University of Michigan Sequencing Core. The authors thank Paul Killen and Lisa Riggs of the University of Michigan Pathology Department and Sabine Hildebrandt for her knowledge of the historical literature. In addition, they thank the Michigan Animal Model Consortium of the Michigan Technology Tri-Corridor (Grant 085P1000815) and Pam Swiatek at the VanAndel Research Institute. They appreciate helpful conversations with Joe Nadeau (CWRU). JAL was funded by the University of Michigan NIH Pre-doctoral Genetics Training Grant (NIH GM07544). DRB was supported by a grant from the NIH (U01HD43430). This work supported by NIH RZIHD053022 to JWI.
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Lehoczky, J.A., Cai, WW., Douglas, J.A. et al. Description and genetic mapping of Polypodia: an X-linked dominant mouse mutant with ectopic caudal limbs and other malformations. Mamm Genome 17, 903–913 (2006). https://doi.org/10.1007/s00335-006-0041-7
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DOI: https://doi.org/10.1007/s00335-006-0041-7