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Gene Review

Ndp  -  Norrie disease (pseudoglioma) (human)

Mus musculus

Synonyms: ND, NDP, Ndph, Norrie disease protein homolog, Norrin
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Disease relevance of Ndph

  • Increased levels of hypoxia inducible factor-1alpha (HIF1alpha) and VEGFA, as well as a characteristic ERG pattern, confirmed hypoxic conditions in the inner retina of the Ndph-knockout mouse [1].
  • Here we report that female mice homozygous for the Norrie disease pseudoglioma homolog (Ndph) knockout allele exhibit almost complete infertility, while heterozygous females and hemizygous males are fertile [2].
  • PURPOSE: Mutations in the NDP gene give rise to a variety of eye diseases, including classic Norrie disease (ND), X-linked exudative vitreoretinopathy (EVRX), retinal telangiectasis (Coats disease), and advanced retinopathy of prematurity (ROP) [3].
  • RESULTS: ACAID was readily induced in RCS rats and ND mice irrespective of amount of retinal degeneration or aging [4].
  • RESULTS: Quantitative evaluation revealed an increase in the number of blood vessels in the interface of the ganglion cell layer and the nerve fiber layer and a decrease in the inner and outer plexiform layers in ND mice older than 9 days compared with control mice [5].

Psychiatry related information on Ndph


High impact information on Ndph

  • Hemizygous mice carrying a replacement mutation in exon 2 of the ND gene developed retrolental structures in the vitreous body and showed an overall disorganization of the retinal ganglion cell layer [7].
  • The murine homologue of the ND gene was cloned and shown to encode a polypeptide that shares 94% of the amino acid sequence with its human counterpart [7].
  • Cellular retention studies showed that the receptor-bound radioiodinated linear alpha-MSH analog NDP was released from the cells into the medium very quickly, whereas significant amounts of cell-associated radioactivity remained in the cells for Ac-Lys((125)I-3- or 4-iodobenzoate (IBA))-ReCCMSH(Arg(11)) and Ac-D-Lys((125)I-IBA)-ReCCMSH(Arg(11)) [8].
  • PURPOSE: To investigate the nature and origin of the vitreous membranes in mice with knock-out of the Norrie gene product (ND mice) [9].
  • The ND gene product neither influences endostatin expression nor the presence of macrophages [9].

Biological context of Ndph


Anatomical context of Ndph

  • Although a recently identified, high-affinity FZD4 ligand Norrin (Norrie disease pseudoglioma homolog) is expressed in the ovary, adult Ndph-/- mice contain functional corpora lutea and do not phenocopy Fzd4-/- mice [12].
  • Obviously, the absence of the Ndp gene product is not compatible with long-term survival of photoreceptor cells in the mouse [3].
  • Using RT-PCR analyses we also demonstrate, for the first time, the expression of Ndph in mouse uteri and deciduae as well as the expression of NDP in human placenta [2].
  • Some other DNase(s) may be present in the periplasm and responsible for a residual DNase activity, which was about one-fourth of that of the parent strain, detected in the ND mutant [13].
  • NDP does not appear to correspond to any of the hitherto characterized neutrophil proteins and the only activity so far detected is a reaction of the protein with rat plasma (but not serum) [14].

Associations of Ndph with chemical compounds

  • 19F NMR of 2-deoxy-2-fluoro-D-glucose for tumor diagnosis in mice. An NDP-bound hexose analog as a new NMR target for imaging [15].
  • Available evidence suggests that NDP-kinase may be responsible for the activation of the guanine nucleotide-binding proteins (G1, G2 and p21 proteins) through phosphate transfer by the enzyme [16].

Analytical, diagnostic and therapeutic context of Ndph

  • Histological examinations and RNA in situ hybridization analyses revealed defects in vascular development and decidualization in pregnant Ndph-/- females from embryonic day 7 (E7) onwards, resulting in embryonic loss [2].
  • In order to elucidate the cellular and molecular processes which are involved in Norrie disease (ND), we have used gene targeting technology to generate ND mutant mice [7].
  • METHODS: Posterior eye segments of ND mice of different age groups were investigated by light and electron microscopy (EM) and scanning EM of vascular corrosion cast preparations [5].
  • By PCR analysis, we found that expression of the NDP gene was not confined to the eye or to the brain [17].
  • Molecular cloning and functional expression of the second mouse nm23/NDP kinase gene, nm23-M2 [18].


  1. Role of the Norrie disease pseudoglioma gene in sprouting angiogenesis during development of the retinal vasculature. Luhmann, U.F., Lin, J., Acar, N., Lammel, S., Feil, S., Grimm, C., Seeliger, M.W., Hammes, H.P., Berger, W. Invest. Ophthalmol. Vis. Sci. (2005) [Pubmed]
  2. Fetal loss in homozygous mutant Norrie disease mice: a new role of Norrin in reproduction. Luhmann, U.F., Meunier, D., Shi, W., Lüttges, A., Pfarrer, C., Fundele, R., Berger, W. Genesis (2005) [Pubmed]
  3. Global gene expression analysis in a mouse model for Norrie disease: late involvement of photoreceptor cells. Lenzner, S., Prietz, S., Feil, S., Nuber, U.A., Ropers, H.H., Berger, W. Invest. Ophthalmol. Vis. Sci. (2002) [Pubmed]
  4. Loss of anterior chamber-associated immune deviation (ACAID) in aged retinal degeneration (rd) mice. Welge-Lüssen, U., Wilsch, C., Neuhardt, T., Wayne Streilein, J., Lütjen-Drecoll, E. Invest. Ophthalmol. Vis. Sci. (1999) [Pubmed]
  5. Retinal vasculature changes in Norrie disease mice. Richter, M., Gottanka, J., May, C.A., Welge-Lüssen, U., Berger, W., Lütjen-Drecoll, E. Invest. Ophthalmol. Vis. Sci. (1998) [Pubmed]
  6. Molecular dissection of Norrie disease. Berger, W. Acta anatomica. (1998) [Pubmed]
  7. An animal model for Norrie disease (ND): gene targeting of the mouse ND gene. Berger, W., van de Pol, D., Bächner, D., Oerlemans, F., Winkens, H., Hameister, H., Wieringa, B., Hendriks, W., Ropers, H.H. Hum. Mol. Genet. (1996) [Pubmed]
  8. Radioiodination of rhenium cyclized alpha-melanocyte-stimulating hormone resulting in enhanced radioactivity localization and retention in melanoma. Cheng, Z., Chen, J., Quinn, T.P., Jurisson, S.S. Cancer Res. (2004) [Pubmed]
  9. Norrie gene product is necessary for regression of hyaloid vessels. Ohlmann, A.V., Adamek, E., Ohlmann, A., Lütjen-Drecoll, E. Invest. Ophthalmol. Vis. Sci. (2004) [Pubmed]
  10. Characterization and mapping of the mouse NDP (Norrie disease) locus (Ndp). Battinelli, E.M., Boyd, Y., Craig, I.W., Breakefield, X.O., Chen, Z.Y. Mamm. Genome (1996) [Pubmed]
  11. Comparative genomics on Norrie disease gene. Katoh, M., Katoh, M. Int. J. Mol. Med. (2005) [Pubmed]
  12. Mice null for Frizzled4 (Fzd4-/-) are infertile and exhibit impaired corpora lutea formation and function. Hsieh, M., Boerboom, D., Shimada, M., Lo, Y., Parlow, A.F., Luhmann, U.F., Berger, W., Richards, J.S. Biol. Reprod. (2005) [Pubmed]
  13. Cloning and characterization of a periplasmic nuclease of Vibrio vulnificus and its role in preventing uptake of foreign DNA. Wu, S.I., Lo, S.K., Shao, C.P., Tsai, H.W., Hor, L.I. Appl. Environ. Microbiol. (2001) [Pubmed]
  14. A novel protein of rat neutrophils (NDP): its use in estimating the neutrophil content of solid tissues. Darcy, D.A., Dean, C.J. British journal of experimental pathology. (1981) [Pubmed]
  15. 19F NMR of 2-deoxy-2-fluoro-D-glucose for tumor diagnosis in mice. An NDP-bound hexose analog as a new NMR target for imaging. Kanazawa, Y., Umayahara, K., Shimmura, T., Yamashita, T. NMR in biomedicine. (1997) [Pubmed]
  16. Physiological correlation between nucleoside-diphosphate kinases and the 21-kDa guanine-nucleotide binding proteins copurified with the enzymes from the cell membrane fractions of Ehrlich ascites tumor cells. Ohtsuki, K., Yokoyama, M., Uesaka, H. Biochim. Biophys. Acta (1987) [Pubmed]
  17. Norrie disease gene: characterization of deletions and possible function. Chen, Z.Y., Battinelli, E.M., Hendriks, R.W., Powell, J.F., Middleton-Price, H., Sims, K.B., Breakefield, X.O., Craig, I.W. Genomics (1993) [Pubmed]
  18. Molecular cloning and functional expression of the second mouse nm23/NDP kinase gene, nm23-M2. Urano, T., Takamiya, K., Furukawa, K., Shiku, H. FEBS Lett. (1992) [Pubmed]
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