Msx2 Deficiency in Mice Causes Pleiotropic Defects in Bone Growth and Ectodermal Organ Formation

    April 2000 in “ Nature genetics ”
    Ichiro Satokata, Liang Ma, Hayato Ohshima, Marianna Bei, Ian Woo, Kohei Nishizawa, Takeyasu Maeda, Yoshiro Takano, Makoto Uchiyama, Shaun Heaney, Heiko Peters, Zequn Tang, Robert E. Maxson, Richard L. Maas
    Studysummary This study found that Msx2-deficient mice exhibit skull and bone formation defects similar to those seen in human MSX2-related conditions, highlighting the gene's importance in skeletal and organ development. Our plain-language summary of this paper — not a Tressless recommendation.
    Msx2-deficient mice exhibited multiple developmental defects, including impaired skull ossification, persistent calvarial foramen, and issues in endochondral bone formation due to reduced proliferation of osteoprogenitors. These defects mirrored human MSX2 haploinsufficiency in parietal foramina. Additionally, Msx2-mutant mice showed abnormalities in tooth, hair follicle, and mammary gland development, as well as seizures linked to cerebellar development issues. The severity of these phenotypes increased with the combined loss of Msx1, underscoring the importance of Msx gene dosage in organogenesis.
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