Targeted disruption of the arylsulfatase B gene results in mice resembling the phenotype of mucopolysaccharidosis VI

Proceedings of the National Academy of Sciences of the United States of America

Volumn 93, Issue 16, 1996, Pages 8214-8219

  Evers, Meike ^a   Saftig, Paul ^a   Schmidt, Peter ^b   Hafner, Angela ^b   McLoghlin, Daniela B ^b   Schmahl, Wolfgang ^b   Hess, Barbara ^a   Von Figura, Kurt ^a   Peters, Christoph ^a  

^a UNIVERSITY OF GÖTTINGEN   (Germany)

^b UNIVERSITY OF MUNICH   (Germany)

Author keywords

animal model; homologous recombination; lysosomal storage disease; Maroteaux Lamy syndrome

Indexed keywords

COMPLEMENTARY DNA; DERMATAN SULFATE; DNA FRAGMENT; GLYCOSAMINOGLYCAN; MESSENGER RNA; N ACETYLGALACTOSAMINE 4 SULFATASE;

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; EMBRYO; ENZYME DEFICIENCY; GENE DISRUPTION; GENE TARGETING; HISTOPATHOLOGY; HOMOZYGOTE; LYSOSOME STORAGE DISEASE; MAROTEAUX LAMY SYNDROME; MOLECULAR CLONING; MOUSE; NONHUMAN; NORTHERN BLOTTING; PHENOTYPE; PRIORITY JOURNAL; URINARY EXCRETION;

ANIMALS; BASE SEQUENCE; BONE AND BONES; CARTILAGE; CHONDRO-4-SULFATASE; DISEASE MODELS, ANIMAL; GENES; GLYCOSAMINOGLYCANS; MICE; MICE, KNOCKOUT; MICROSCOPY, ELECTRON; MOLECULAR SEQUENCE DATA; MUCOPOLYSACCHARIDOSIS VI; PHENOTYPE; RESTRICTION MAPPING;

ANIMALIA;

EID: 0029738625     PISSN: 00278424     EISSN: None     Source Type: Journal    
DOI: 10.1073/pnas.93.16.8214     Document Type: Article

References (27)

1. Neufeld, E. F. & Muenzer J. (1995) in The Metabolic and Molecular Bases of Inherited Disease, eds. Scriver, C. R., Beaudet, A. L., Sly, W. S. & Valle, D. (McGraw-Hill, New York), Vol. 2, pp. 2465-2494.
2. Matalon, R., Arbogast, B. & Dorfman, A. (1974) Biochem. Biophys. Res. Commun. 61, 1450-1457.
3. O'Brien, J. S., Cantz, M. & Spranger, J. (1974) Biochem. Biophys. Res. Commun. 60, 1170-1177.
4. Peters, C., Schmidt, B., Rommerskirch, W., Rupp, K., Zühlsdorf, M., Vingron, M., Meyer, H. E., Pohlmann, R. & von Figura, K. (1990) J. Biol. Chem. 265, 3374-3381.
5. Schuchman, E. H., Jackson, C. E. & Desnick, R. J. (1990) Genomics 6, 149-158.
6. Modaressi, S., Rupp, K., von Figura, K. & Peters, C. (1993) Biol. Chem. Hoppe-Seyler 374, 327-335.
7. Gieselmann, V. (1995) Biochim. Biophys. Acta 1270, 103-136.
8. Barton, N. W., Brady, R. O., Dambrosia, J. M., Di Bisceeglie, A. M., Doppelt, S. H., et al. (1991) N. Engl. J. Med. 324, 1464-1470.
9. Kay, M. A. & Woo, L. C. (1994) Trends Genet. 10, 253-257.
10. Jezyk, P. F., Haskins, M. E., Patterson, D. F., Mellman, W. J. & Greenstein, M. (1977) Science 198, 834-836.
11. Yoshida, M., Noguchi, J., Ikadai, H., Takahashi, M. & Nagase, S. (1993) J. Clin. Invest. 91, 1099-1104.
12. Hogan, B., Beddington, R., Costantini, F. & Lacy, E. (1994) Manipulating the Mouse Embryo (Cold Spring Harbor Lab. Press, Plainview, NY), pp. 253-290.
13. Thomas, K. R. & Capecchi, M. R. (1987) Cell 51, 503-512.
14. Hooper, M., Hardy, K., Handyside, A., Hunter, S. & Monk, M. (1987) Nature (London) 326, 292-295.
15. Köster, A., Saftig, P., Matzner, U., von Figura, K., Peters, C. & Pohlmann, R. (1993) EMBO J. 12, 5219-5223.
16. Isbrandt, D., Arlt, G., Brooks, D. A., Hopwood, J. J., von Figura, K. & Peters, C. (1994) Am. J. Hum. Genet. 54, 454-463.
17. Lyons, K., Graycar, J. L., Lee, A., Hashmi, S., Lindquist, P. B., Chen, E. Y., Hogan, B. L. M. & Derynck, R. (1989) Proc. Natl. Acad. Sci. USA 86, 4554-4558.
18. Hopwood, J. J., Elliott, H., Muller, V. J. & Saccone, G. T. P. (1986) Biochem. J. 234, 507-514.
19. Gold, E. W. (1979) Anal. Biochem. 99, 183-188.
20. Hermanns, W., Liebig, K. & Schulz, L. C. (1981) Histochemistry 37, 439-446.
21. Romeis, B. (1989) Mikroskopische Technik (Urban und Schwarzenberg, Munich).
22. Spranger, J. W., Koch, F., McKusick, V. A., Natzschka, J., Wiedemann, H. R. & Zellweger, H. (1970) Helv. Paediatr. Acta 25, 337-362.
23. Haskins, M. E., Aguirre, G. D., Jezyk, P. F. & Patterson, D. F. (1980) Am. J. Pathol. 101, 657-666.
24. Sands, M. S. & Birkenmeier, E. H. (1993) Proc. Natl. Acad. Sci. USA 90, 6567-6571.
25. Birkenmeier, E. H., Barker, J. E., Vogler, C. A., Kyle, J. W., Sly, W. S., Gwynn, B., Levy, B. & Pegros, C. (1991) Blood 78, 3081-3092.
26. Wolfe, J. H., Sands, M. S., Barker, J. E., Gwynn, B., Rowe, L. B., Vogler, C. A. & Birkenmeier, E. H. (1992) Nature (London) 360, 749-753.
27. Sands, M. S., Vogler, C., Kyle, J. W., Grubb, J. H., Levy, B., Galvin, N., Sly, W. S. & Birkenmeier, E. H. (1994) J. Clin. Invest. 93, 2324-2331.