Occurrence of two missense mutations in Cu-ATPase of the macular mouse, a Menkes disease model

Biochemistry and Molecular Biology International

Volumn 43, Issue 4, 1997, Pages 913-918

  Ohta, Yuriko ^a   Shiraishi, Noriyuki ^a   Nishikimi, Morimitsu ^a  

^a WAKAYAMA MEDICAL UNIVERSITY   (Japan)

Author keywords

Cu ATPase; DNA sequencing; Macular mouse; Menkes disease; Missense mutation; Northern blotting

Indexed keywords

ADENOSINE TRIPHOSPHATASE; COMPLEMENTARY DNA;

ANIMAL MODEL; ARTICLE; FEMALE; FETUS; GENETIC DISORDER; GENETIC MODEL; KIDNEY; MENKES SYNDROME; MISSENSE MUTATION; MOUSE; NONHUMAN; NORTHERN BLOTTING; PLACENTA; SEQUENCE ANALYSIS;

EID: 0031394885     PISSN: 10399712     EISSN: None     Source Type: Journal    
DOI: 10.1080/15216549700204721     Document Type: Article

References (13)

1. Solioz, M., and Vulpe, C. (1996) Trends Biochem. Sci. 21, 237-241.
2. Chelly, J., Tümer, Z., Tønnesen, T., Petterson, A., Ishikawa-Brush, Y., Tommerup, N., Horn, N., Monaco, A. (1993) Nature Genet. 3, 14-19.
3. Mercer, J. F. B., Livingston, J., Hall, B., Paynter, J. A., Begy, C., Chandrasekharappa, S., Lockhart, P., Grimes, A., Bhave, M., Siemieniak, D., and Glover, T. W. (1993) Nature Genet. 3, 20-25.
4. Vulpe, C., Levinson, B., Whitney, S., Packman, S., and Gitschier, J. (1993) Nature Genet. 3, 7-13.
5. Bull, P. C., Thomas, G. R., Romments, J. M., Forbes, J. R., and Cox, D. W. (1993) Nature Genet. 5, 327-337.
6. Tanzi, R. E., Petrukhin, K., Chernov, I., Pellequer, J. L., Wasco, W., Ross, B., Romano, D. M., Parano, E., Pavone, L., Brzustowicz, L. M., Devoto, M., Peppercorn, J., Bush, A. I., Sternlieb, I., Pirastu, M., Gusella, J. F., Evgrafov, O., Penchaszadeh, G. K., Honig, B., Edelman, I. S., Soares, M. B., Scheinberg, I. H., and Gilliam, T. C. (1993) Nature Genet. 5, 344-350.
7. Nishimura, M. (1975) Exp. Anim. (Tokyo) 24, 185.
8. Miller, J. (1990) in X-linked Traits: A Catalogue of Loci in Nonhuman Mammals, pp. 115-125, Cambridge University Press, Cambridge.
9. Reed, V., and Boyd, Y. (1997) Hum. Mol. Genet. 6, 417-423.
10. Paynter, J. A., Grimes, A., Lockhart, P., and Mercer, J. F. B. (1994) FEBS Lett. 351, 186-190.
11. Levinson, B., Vulpe, C., Elder, B., Martin, C., Verley, F., Packman, S., and Gitschier, J. (1994) Nature Genet. 6, 369-373.
12. Mercer, J. F. B, Grimes, A., Ambrosini, L., Lockhart, P., Paynter, J. A., Dierick, H., and Glover, T. W. (1994) Nature Genet. 6, 374-378.
13. Das, S., Levinson, B., Vulpe, C., Whitney, S., Gitschier, J., and Packman, S. (1995) Am. J. Hum. Genet. 56, 570-576.