The Lanceolate Hair Rat Phenotype Results from a Missense Mutation in a Calcium Coordinating Site of the Desmoglein 4 Gene

February 2004 in “ Genomics ”

Colin A.B. Jahoda, Ana Kljuic, Ryan O'shaughnessy, Neil Crossley, Claire J. Whitehouse, Mark Robinson, Amanda J. Reynolds, Michel Démarchez, Rebecca Porter, Lawrence Shapiro, Angela M. Christiano

Desmoglein 4 Dsg4 missense mutation calcium binding site hair shaft defect localized autosomal recessive hypotrichosis LAH

Studysummary This study identified a missense mutation in the rat Desmoglein 4 gene, causing abnormal hair shaft development in lanceolate hair mutant rats by disrupting a critical calcium binding site.

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This study identified histologic lesions and a defect in adhesion molecules causing hair loss in mice with the bal mutation, linked to a mutation in the desmoglein 3 gene.

research Lanceolate Hair (Lah): A Recessive Mouse Mutation with Alopecia and Abnormal Hair

36 citations , July 1996 in “The journal of investigative dermatology/Journal of investigative dermatology”

This research reports a new autosomal recessive mutation in mice, 'lanceolate hair', causing generalized alopecia and hair shaft abnormalities, which may serve as a model for Netherton's syndrome in humans.