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Article

A spontaneous Fatp4/Scl27a4 splice site mutation in a new murine model for congenital ichthyosis.

PloS one - 1 Jan 2012

Tao Jianning, Koster Maranke I, Harrison Wilbur, Moran Jennifer L, Beier David R, Roop Dennis R, Overbeek Paul A

Abstract excerpt

Congenital ichthyoses are life-threatening conditions in humans. We describe here the identification and molecular characterization of a novel recessive mutation in mice that results in newborn lethality with severe congenital lamellar ichthyosis. Mutant newborns have a taut, shiny, non-expandable epidermis that resembles cornified manifestations of autosomal-recessive congenital ichthyosis in humans. The skin is...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 23226340
DOI: 10.1371/journal.pone.0050634
PMCID: PMC3511458

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