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

Volumn 22, Issue 9, 2007, Pages 1397-1407

  Hough, Tertius A ^a,b   Polewski, Monika ^c   Johnson, Kristen ^c   Cheeseman, Michael ^a,b   Nolan, Patrick M ^a   Vizor, Lucie ^b   Rastan, Sohaila ^d   Boyde, Alan ^e   Pritzker, Kenneth ^f   Hunter, A Jackie ^d   Fisher, Elizabeth M C ^g   Terkeltaub, Robert ^c   Brown, Steve D M ^a  

^a MRC MAMMALIAN GENETICS UNIT   (United Kingdom)

^b Medical Research Council Harwell Institute   (United Kingdom)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d GLAXOSMITHKLINE   (United Kingdom)

^e QUEEN MARY UNIVERSITY OF LONDON   (United Kingdom)

^f MOUNT SINAI HOSPITAL   (Canada)

^g NATIONAL HOSPITAL FOR NEUROLOGY AND NEUROSURGERY   (United Kingdom)

Author keywords

Akp2Hpp +; Akp2Hpp Hpp; Low alkaline phosphatase; N ethyl N nitrosoorea mutagenesis; Semidominant inheritance

Indexed keywords

ALKALINE PHOSPHATASE; DNA; ETHYLNITROSOUREA; PHOSPHATE; PHOSPHOETHANOLAMINE; PYRIDOXAL 5 PHOSPHATE; PYROPHOSPHATE; ALKALINE PHOSPHATASE 2, MOUSE; COMPLEMENTARY DNA; UNCLASSIFIED DRUG;

AKP2 GENE; ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BONE DEVELOPMENT; BONE MINERALIZATION; CLINICAL FEATURE; CONTROLLED STUDY; ENZYME SPECIFICITY; GENE; GENE MAPPING; GENE MUTATION; HYPOPHOSPHATASIA; KNEE DISEASE; MOUSE; NONHUMAN; NUCLEOTIDE SEQUENCE; PHENOTYPE; POINT MUTATION; ANIMAL; DISEASE MODEL; DOMINANT GENE; GENETICS; MOLECULAR GENETICS; MUTATION; RNA SPLICING; SCANNING ELECTRON MICROSCOPY;

ALKALINE PHOSPHATASE; ANIMALS; BASE SEQUENCE; DISEASE MODELS, ANIMAL; DNA, COMPLEMENTARY; GENES, DOMINANT; HYPOPHOSPHATASIA; MICE; MICROSCOPY, ELECTRON, SCANNING; MOLECULAR SEQUENCE DATA; MUTATION; PHENOTYPE; RNA SPLICING;

EID: 36048995717     PISSN: 08840431     EISSN: None     Source Type: Journal    
DOI: 10.1359/jbmr.070515     Document Type: Article

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