Article
Naked (N) mutant mice carry a nonsense mutation in the homeobox of Hoxc13.
Experimental dermatology - 1 Mar 2022
Perez Carlos J, Mecklenburg Lars, Fernandez Almudena, Cantero Marta, de Souza Tiago Antonio, Lin Kevin, Dent Sharon Y R, Montoliu Lluis, Awgulewitsch Alexander, Benavides Fernando
Abstract excerpt
Loss of function mutations in HOXC13 have been associated with Ectodermal Dysplasia-9, Hair/Nail Type (ECTD9) in consanguineous families, characterized by sparse to complete absence of hair and nail dystrophy. Here we characterize the spontaneous mouse mutation Naked (N) as a terminal truncation in the Hoxc13 (homeobox C13) gene. Similar to previous reports for homozygous Hoxc13 knock-out (KO) mice, homozygous...
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