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Genesis. 2017 Jul;55(7). doi: 10.1002/dvg.23038. Epub 2017 Jun 22.

Generation and characterization of a conditional allele of Interferon Regulatory Factor 6.

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Genetics PhD Program, Michigan State University, East Lansing, Michigan.
Department of Biochemistry and Molecular Biology, Michigan State University, East Lansing, Michigan.
College of Osteopathic Medicine, Michigan State University, East Lansing, Michigan.
Department of Pediatrics, Nagasaki University, Nagasaki, Japan.
College of Veterinary Medicine, Michigan State University, East Lansing, Michigan.
Department of Obstetrics and Gynecology, The University of Iowa.
Department of Microbiology and Molecular Genetics, Michigan State University, East Lansing, Michigan.
Department of Pediatrics and Human Development, Michigan State University, East Lansing, Michigan.


Interferon Regulatory Factor 6 (IRF6) is a critical regulator of differentiation, proliferation, and migration of keratinocytes. Mutations in IRF6 cause two autosomal dominant disorders characterized by cleft lip with or without cleft palate. In addition, DNA variation in IRF6 confers significant risk for non-syndromic cleft lip and palate. IRF6 is also implicated in adult onset development and disease processes, including mammary gland development and squamous cell carcinoma. Mice homozygous for a null allele of Irf6 die shortly after birth due to severe skin, limb, and craniofacial defects, thus impeding the study of gene function after birth. To circumvent this, a conditional allele of Irf6 was generated. To validate the functionality of the conditional allele, we used three "deleter" Cre strains: Gdf9-Cre, CAG-Cre, and Ella-Cre. When Cre expression was driven by the Gdf9-Cre or CAG-Cre transgenes, 100% recombination was observed as indicated by DNA genotyping and phenotyping. In contrast, use of the Ella-Cre transgenic line resulted in incomplete recombination, despite expression at the one-cell stage. In sum, we generated a novel tool to delete Irf6 in a tissue specific fashion, allowing for study of gene function past perinatal stages. However, recombination efficiency of this allele was dictated by the Cre-driver used.


Cre/lox; IRF6; Van der Woude Syndrome; cleft lip and palate; conditional allele; epithelium

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