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Gene Review

hy1  -  hydrocephalus 1

Mus musculus

Synonyms: hy-1
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Disease relevance of hy1


Psychiatry related information on hy1


High impact information on hy1


Chemical compound and disease context of hy1


Biological context of hy1


Anatomical context of hy1


Associations of hy1 with chemical compounds


Regulatory relationships of hy1

  • Dysfunction of axonemal dynein heavy chain Mdnah5 inhibits ependymal flow and reveals a novel mechanism for hydrocephalus formation [29].

Other interactions of hy1

  • An unexpected finding is that the modified Apob allele is strongly associated with exencephalus and hydrocephalus [30].
  • Development of hydrocephalus in mice lacking SOCS7 [31].
  • We show here that in a specific C57BL background, 20% of the Col18a1(-/-) mice developed hydrocephalus, and dilation of the brain ventricles was observed by MRI in all of the mutant mice [23].
  • Msx1-deficient mice fail to form prosomere 1 derivatives, subcommissural organ, and posterior commissure and develop hydrocephalus [32].
  • The development of spontaneous hydrocephalus in mouse models resulting from the overexpression of transforming growth factor-beta (TGFbeta-1) has been previously described, although the mechanism by which this occurs remains obscure [33].

Analytical, diagnostic and therapeutic context of hy1


  1. Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse. Kulaga, H.M., Leitch, C.C., Eichers, E.R., Badano, J.L., Lesemann, A., Hoskins, B.E., Lupski, J.R., Beales, P.L., Reed, R.R., Katsanis, N. Nat. Genet. (2004) [Pubmed]
  2. Disruption of the mouse L1 gene leads to malformations of the nervous system. Dahme, M., Bartsch, U., Martini, R., Anliker, B., Schachner, M., Mantei, N. Nat. Genet. (1997) [Pubmed]
  3. Expression of the human PAC1 receptor leads to dose-dependent hydrocephalus-related abnormalities in mice. Lang, B., Song, B., Davidson, W., MacKenzie, A., Smith, N., McCaig, C.D., Harmar, A.J., Shen, S. J. Clin. Invest. (2006) [Pubmed]
  4. Alcohol inhibits cell-cell adhesion mediated by human L1. Ramanathan, R., Wilkemeyer, M.F., Mittal, B., Perides, G., Charness, M.E. J. Cell Biol. (1996) [Pubmed]
  5. Disruption of the murine nuclear factor I-A gene (Nfia) results in perinatal lethality, hydrocephalus, and agenesis of the corpus callosum. das Neves, L., Duchala, C.S., Tolentino-Silva, F., Haxhiu, M.A., Colmenares, C., Macklin, W.B., Campbell, C.E., Butz, K.G., Gronostajski, R.M., Godinho, F. Proc. Natl. Acad. Sci. U.S.A. (1999) [Pubmed]
  6. Heterogeneous expression of hydrocephalic phenotype in the hyh mice carrying a point mutation in alpha-SNAP. Bátiz, L.F., Páez, P., Jiménez, A.J., Rodríguez, S., Wagner, C., Pérez-Fígares, J.M., Rodríguez, E.M. Neurobiol. Dis. (2006) [Pubmed]
  7. A behavior profile of the MRL/Mp lpr/lpr mouse and its association with hydrocephalus. Denenberg, V.H., Sherman, G.F., Rosen, G.D., Morrison, L., Behan, P.O., Galaburda, A.M. Brain Behav. Immun. (1992) [Pubmed]
  8. Animal models of germinal matrix hemorrhage. Balasubramaniam, J., Del Bigio, M.R. J. Child Neurol. (2006) [Pubmed]
  9. The hyh mutation uncovers roles for alpha Snap in apical protein localization and control of neural cell fate. Chae, T.H., Kim, S., Marz, K.E., Hanson, P.I., Walsh, C.A. Nat. Genet. (2004) [Pubmed]
  10. Disruption of Cnp1 uncouples oligodendroglial functions in axonal support and myelination. Lappe-Siefke, C., Goebbels, S., Gravel, M., Nicksch, E., Lee, J., Braun, P.E., Griffiths, I.R., Nave, K.A. Nat. Genet. (2003) [Pubmed]
  11. The forkhead/winged helix gene Mf1 is disrupted in the pleiotropic mouse mutation congenital hydrocephalus. Kume, T., Deng, K.Y., Winfrey, V., Gould, D.B., Walter, M.A., Hogan, B.L. Cell (1998) [Pubmed]
  12. A specific, nonproliferative role for E2F-5 in choroid plexus function revealed by gene targeting. Lindeman, G.J., Dagnino, L., Gaubatz, S., Xu, Y., Bronson, R.T., Warren, H.B., Livingston, D.M. Genes Dev. (1998) [Pubmed]
  13. 6-Aminonicotinamide-induced hydrocephalus in suckling mice. Aikawa, H., Suzuki, K., Ito, N., Iwasaki, Y., Nonaka, I. J. Neuropathol. Exp. Neurol. (1984) [Pubmed]
  14. Heavy water inhibiting the expression of transforming growth factor-beta1 and the development of kaolin-induced hydrocephalus in mice. Hatta, J., Hatta, T., Moritake, K., Otani, H. J. Neurosurg. (2006) [Pubmed]
  15. Effects of cyclophosphamide on the prenatal development of the Swiss strain mice. Ujházy, E., Preinerová, M., Jozefík, M. Neoplasma (1979) [Pubmed]
  16. Lipopolysaccharide aggravates cerebral pathology in B10.PL-derived CD1-/-, beta2m-/-, TCRalpha-/-, and TCRdelta-/- knockout mice. Sura, P., Srebro, Z., Macura, B., Majewska, M., Zajac, K., Szczepanik, M. Folia Biol. (Krakow) (2006) [Pubmed]
  17. apo B gene knockout in mice results in embryonic lethality in homozygotes and neural tube defects, male infertility, and reduced HDL cholesterol ester and apo A-I transport rates in heterozygotes. Huang, L.S., Voyiaziakis, E., Markenson, D.F., Sokol, K.A., Hayek, T., Breslow, J.L. J. Clin. Invest. (1995) [Pubmed]
  18. Gene dosage affects the cardiac and brain phenotype in nonmuscle myosin II-B-depleted mice. Uren, D., Hwang, H.K., Hara, Y., Takeda, K., Kawamoto, S., Tullio, A.N., Yu, Z.X., Ferrans, V.J., Tresser, N., Grinberg, A., Preston, Y.A., Adelstein, R.S. J. Clin. Invest. (2000) [Pubmed]
  19. Male infertility, impaired sperm motility, and hydrocephalus in mice deficient in sperm-associated antigen 6. Sapiro, R., Kostetskii, I., Olds-Clarke, P., Gerton, G.L., Radice, G.L., Strauss III, J.F. Mol. Cell. Biol. (2002) [Pubmed]
  20. Graded phenotypic response to partial and complete deficiency of a brain-specific transcript variant of the winged helix transcription factor RFX4. Blackshear, P.J., Graves, J.P., Stumpo, D.J., Cobos, I., Rubenstein, J.L., Zeldin, D.C. Development (2003) [Pubmed]
  21. A retrovirus carrying the K-fgf oncogene induces diffuse meningeal tumors and soft-tissue fibrosarcomas. Talarico, D., Ittmann, M.M., Bronson, R., Basilico, C. Mol. Cell. Biol. (1993) [Pubmed]
  22. Hydrocephalus, situs inversus, chronic sinusitis, and male infertility in DNA polymerase lambda-deficient mice: possible implication for the pathogenesis of immotile cilia syndrome. Kobayashi, Y., Watanabe, M., Okada, Y., Sawa, H., Takai, H., Nakanishi, M., Kawase, Y., Suzuki, H., Nagashima, K., Ikeda, K., Motoyama, N. Mol. Cell. Biol. (2002) [Pubmed]
  23. Structurally altered basement membranes and hydrocephalus in a type XVIII collagen deficient mouse line. Utriainen, A., Sormunen, R., Kettunen, M., Carvalhaes, L.S., Sajanti, E., Eklund, L., Kauppinen, R., Kitten, G.T., Pihlajaniemi, T. Hum. Mol. Genet. (2004) [Pubmed]
  24. Ectopic engrailed 1 expression in the dorsal midline causes cell death, abnormal differentiation of circumventricular organs and errors in axonal pathfinding. Louvi, A., Wassef, M. Development (2000) [Pubmed]
  25. Loss of the serine/threonine kinase fused results in postnatal growth defects and lethality due to progressive hydrocephalus. Merchant, M., Evangelista, M., Luoh, S.M., Frantz, G.D., Chalasani, S., Carano, R.A., van Hoy, M., Ramirez, J., Ogasawara, A.K., McFarland, L.M., Filvaroff, E.H., French, D.M., de Sauvage, F.J. Mol. Cell. Biol. (2005) [Pubmed]
  26. Ethylenethiourea: a review of teratogenicity and distribution studies and an assessment of reproduction risk. Khera, K.S. Crit. Rev. Toxicol. (1987) [Pubmed]
  27. Herpes simplex virus type 1-induced hydrocephalus in mice. Hayashi, K., Iwasaki, Y., Yanagi, K. J. Virol. (1986) [Pubmed]
  28. Hydrocephalus following prenatal methylmercury poisoning. Choi, B.H., Kim, R.C., Peckham, N.H. Acta Neuropathol. (1988) [Pubmed]
  29. Dysfunction of axonemal dynein heavy chain Mdnah5 inhibits ependymal flow and reveals a novel mechanism for hydrocephalus formation. Ibañez-Tallon, I., Pagenstecher, A., Fliegauf, M., Olbrich, H., Kispert, A., Ketelsen, U.P., North, A., Heintz, N., Omran, H. Hum. Mol. Genet. (2004) [Pubmed]
  30. Targeted modification of the apolipoprotein B gene results in hypobetalipoproteinemia and developmental abnormalities in mice. Homanics, G.E., Smith, T.J., Zhang, S.H., Lee, D., Young, S.G., Maeda, N. Proc. Natl. Acad. Sci. U.S.A. (1993) [Pubmed]
  31. Development of hydrocephalus in mice lacking SOCS7. Krebs, D.L., Metcalf, D., Merson, T.D., Voss, A.K., Thomas, T., Zhang, J.G., Rakar, S., O'bryan, M.K., Willson, T.A., Viney, E.M., Mielke, L.A., Nicola, N.A., Hilton, D.J., Alexander, W.S. Proc. Natl. Acad. Sci. U.S.A. (2004) [Pubmed]
  32. Msx1-deficient mice fail to form prosomere 1 derivatives, subcommissural organ, and posterior commissure and develop hydrocephalus. Fernández-Llebrez, P., Grondona, J.M., Pérez, J., López-Aranda, M.F., Estivill-Torrús, G., Llebrez-Zayas, P.F., Soriano, E., Ramos, C., Lallemand, Y., Bach, A., Robert, B. J. Neuropathol. Exp. Neurol. (2004) [Pubmed]
  33. Alterations in matrix metalloproteinase-9 levels and tissue inhibitor of matrix metalloproteinases-1 expression in a transforming growth factor-beta transgenic model of hydrocephalus. Zechel, J., Gohil, H., Lust, W.D., Cohen, A. J. Neurosci. Res. (2002) [Pubmed]
  34. Insights into the pathogenesis of hydrocephalus from transgenic and experimental animal models. Crews, L., Wyss-Coray, T., Masliah, E. Brain Pathol. (2004) [Pubmed]
  35. Overexpression of TGF-beta 1 in the central nervous system of transgenic mice results in hydrocephalus. Galbreath, E., Kim, S.J., Park, K., Brenner, M., Messing, A. J. Neuropathol. Exp. Neurol. (1995) [Pubmed]
  36. Pathogenesis of reovirus type 1 hydrocephalus in mice. Significance of aqueductal changes. Masters, C., Alpers, M., Kakulas, B. Arch. Neurol. (1977) [Pubmed]
  37. Induction of communicating hydrocephalus in mice by intrathecal injection of human recombinant transforming growth factor-beta 1. Tada, T., Kanaji, M., Kobayashi, S. J. Neuroimmunol. (1994) [Pubmed]
  38. The living shunt: a tissue engineering approach in the treatment of hydrocephalus. Lee, I.W., Vacanti, J.P., Taylor, G.A., Madsen, J.R. Neurol. Res. (2000) [Pubmed]
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