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Use of an animal model of Epidermal Nevus Syndrome to understand the mechanism of FGFR signaling in renal phosphate wasting syndromes

Program Faculty & Summary

V.P. Eswarakumar, PhD

Veraragavan Eswarakumar focused on a rare phosphate wasting syndrome associated with FGF receptor dysfunction. Dr. Eswarakumar notes, “Because Epidermal Nevus Syndrome (ENS) is due to mosaicism resulting from a postzygotic mutation of FGFR3, we hypothesized that cells other than keratinocytes harbor the mutation and contribute to the skeletal abnormalities and phosphate wasting observed in ENS patients.

Our goal was to create an animal model of ENS by introducing a lethal FGFR3 mutation into the mouse germline using a loxP-flanked stop sequence to overcome prenatal lethality and then to selectively activate the mutation in specific tissues including skin, bone, and kidney. Identifying tissues that harbor the mutant receptor will contribute to an improved understanding of the mechanism of FGFR signaling in phosphate homeostasis and ENS.”

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Schematic of the Fgfr3-R242C mutant construct before and after Cre-mediated recombination.