Novel mouse model of autosomal semidominant adult Hypophosphatasia has a splice site mutation in the tissue nonspecific alkaline phosphatase gene Akp2

Tertius A. Hough*, Monika Polewski, Kristen Johnson, Michael Cheeseman, Patrick M. Nolan, Lucie Vizor, Sohaila Rastan, Alan Boyde, Kenneth Pritzker, A. Jackie Hunter, Elizabeth M. C. Fisher, Robert Terkeltaub, Steve D. M. Brown

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish
Pages (from-to)1397-1407
Number of pages11
JournalJournal of Bone and Mineral Research
Volume22
Issue number9
DOIs
Publication statusPublished - Sep 2007

Keywords

  • semidominant inheritance
  • CALCIFICATION
  • low alkaline phosphatase
  • CELL MEMBRANE GLYCOPROTEIN-1
  • N-ethyl-N-nitrosoorea mutagenesis
  • MUTAGENESIS
  • INFANTILE HYPOPHOSPHATASIA
  • Akp2(HPP/+)
  • PHENOTYPE
  • INORGANIC PYROPHOSPHATE GENERATION
  • MINERALIZATION
  • Akp2(HPP/HPP)
  • CHONDROCYTES
  • CEMENTUM
  • OSTEOGENESIS IMPERFECTA

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