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Harlequin ichthyosis model mouse reveals alveolar collapse and severe fetal skin barrier defects

9 Jul 2008

Abstract excerpt

Harlequin ichthyosis (HI), which is the most severe genodermatosis, is caused by loss-of-function mutations in ABCA12, a member of the ATP-binding cassette transporter family. To investigate the pathomechanism of HI and the function of the ABCA12 protein, we generated ABCA12-deficient mice (Abca12(-/-)) by targeting Abca12. Abca12(-/-) mice closely reproduce the human HI phenotype, showing marked hyperkeratosis...

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PMID: 18632686
DOI: 10.1093/hmg/ddn204

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