Alopecia in a Viable Phospholipase C Delta 1 and Phospholipase C Delta 3 Double Mutant

    June 2012 in “ PloS one ”
    Fabian Runkel, Maik Hintze, Sebastian Griesing, Marion Michels, Birgit Blanck, Kiyoko Fukami, Jean‐Louis Guénet, Thomas Franz
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    TLDR Mutations in Plcd1 and Plcd3 together cause severe hair loss in mice.
    The study investigated the effects of mutations in phospholipase C delta 1 (Plcd1) and phospholipase C delta 3 (Plcd3) on hair loss in mice. While inactivation of Plcd1 alone caused alopecia and Plcd3 alone had no apparent effect, a novel Plcd3 mutation (Plcd3(mNab)) exacerbated the alopecia caused by Plcd1 loss. Mice with both mutations exhibited total alopecia, fragile hair shafts, altered expression of structural genes, and shortened proliferation phases in hair follicle matrix cells. This suggested that Plcd1 and Plcd3 have synergistic effects on hair follicles in specific body regions.
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