Article
Defects in Stratum Corneum Desquamation Are the Predominant Effect of Impaired ABCA12 Function in a Novel Mouse Model of Harlequin Ichthyosis.
PloS one - 1 Jan 2016
Zhang Lei, Ferreyros Michael, Feng Weiguo, Hupe Melanie, Crumrine Debra A, Chen Jiang, Elias Peter M, Holleran Walter M, Niswander Lee, Hohl Daniel, Williams Trevor, Torchia Enrique C, Roop Dennis R
Abstract excerpt
Harlequin Ichthyosis is a severe skin disease caused by mutations in the human gene encoding ABCA12. Here, we characterize a novel mutation in intron 29 of the mouse Abca12 gene that leads to the loss of a 5' splice donor site and truncation of the Abca12 RNA transcript. Homozygous mutants of this smooth skin or smsk allele die perinatally with shiny translucent skin, typical of animal models of Harlequin...
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