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Esrp1 and Esrp2 expression in the developing midface and kidney of mice with frontonasal dysplasia and renal hypoplasia

The Brachyrrhine (Br) mutant mouse displays heritable frontonasal dysplasia (FND) and renal hypoplasia (RH). Previous DNA microarray analysis on embryonic Br facial explants showed a misexpression of several genes, two of which are Esrp1 and Esrp2. Together, the Esrp genes play an essential role in the regulation of epithelial‐mesenchymal transition—an important process in craniofacial and kidney development. The primary objective of this study is to determine if Esrp1 and ‐2 contributes to a developmental pathway leading to FND or RH in the Br mouse and, specifically, if there is a difference in Esrp1 and ‐2 expression in the developing midface and kidneys of wild type (WT) and Br adults and embryos. WT and Br/Br E11.5 medial nasal prominences (MNP) and E15.5 and E18.5 kidneys were dissected and RNA extracted for qPCR expression analysis. Preliminary results show minimal difference in Esrp1 and ‐2 expression in MNPs of WT and Br embryos, and an increase in Esrp2 expression from E15.5 to E18.5 WT kidneys. Future work involving qPCR and immunohistochemistry will be completed to better understand the expression patterns of these two genes. Results from this study will contribute to our understanding of the genetic basis of craniofacial and kidney morphogenesis.