Article
Novel mouse model of autosomal semidominant adult hypophosphatasia has a splice site mutation in the tissue nonspecific alkaline phosphatase gene Akp2.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Sept 2007
Hough Tertius A, Polewski Monika, Johnson Kristen, Cheeseman Michael, Nolan Patrick M, Vizor Lucie, Rastan Sohaila, Boyde Alan, Pritzker Kenneth, Hunter A Jackie, Fisher Elizabeth M C, Terkeltaub Robert, Brown Steve D M
Abstract excerpt
UNLABELLED: Deactivating mutations in the TNSALP gene cause HPP. Akp2(-/-) mice model severe infantile HPP, but there is no model for the relatively mild adult form. Here we report on mice with an induced mutation in Akp2 that affects splicing. The phenotype of homozygotes mirror aspects of the adult form of HPP. INTRODUCTION: Hypophosphatasia (HPP) is a clinically varied skeletal disorder resulting from...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.