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Gene Review

oto  -  otocephaly

Mus musculus

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Disease relevance of oto

  • Its clinical use is limited by the presence of some undesired side effects, like as oto- and nephro toxicity, whose mechanisms of action are not understood [1].

High impact information on oto

  • In contrast, heterozygous mutants displayed craniofacial malformations designated as otocephaly; affected structures appeared to correspond to the most posterior and most anterior domains of Otx expression where Otx1 is not expressed [2].
  • Mice heterozygous for the Otx2 mutation display a craniofacial malformation, known as otocephaly or agnathia-holoprosencephaly complex [3].
  • Transformations of the vertebrae in oto embryos reveal a Lim1-independent role in the establishment of positional information in the trunk [4].
  • The phenotype of oto embryos points to an early and critical role for oto in the development of forebrain subregions [4].
  • We show here that the oto mutation on mouse chromosome 1 defines a locus with a critical role in anterior development [4].

Biological context of oto

  • The penetrance of oto is nearly complete on C57BL strain backgrounds but is reduced to a variable extent on other backgrounds [5].

Anatomical context of oto


Associations of oto with chemical compounds


Analytical, diagnostic and therapeutic context of oto

  • In several animal models of infection, greater efficacy and less oto- and nephrotoxicity have been associated with once daily dosing of aminoglycosides [8].


  1. RNA expression induced by cisplatin in an organ of Corti-derived immortalized cell line. Previati, M., Lanzoni, I., Corbacella, E., Magosso, S., Giuffrè, S., Francioso, F., Arcelli, D., Volinia, S., Barbieri, A., Hatzopoulos, S., Capitani, S., Martini, A. Hear. Res. (2004) [Pubmed]
  2. Mouse Otx2 functions in the formation and patterning of rostral head. Matsuo, I., Kuratani, S., Kimura, C., Takeda, N., Aizawa, S. Genes Dev. (1995) [Pubmed]
  3. Genetic modifiers of otocephalic phenotypes in Otx2 heterozygous mutant mice. Hide, T., Hatakeyama, J., Kimura-Yoshida, C., Tian, E., Takeda, N., Ushio, Y., Shiroishi, T., Aizawa, S., Matsuo, I. Development (2002) [Pubmed]
  4. oto is a homeotic locus with a role in anteroposterior development that is partially redundant with Lim1. Zoltewicz, J.S., Plummer, N.W., Lin, M.I., Peterson, A.S. Development (1999) [Pubmed]
  5. Genetic and developmental studies of a new mouse mutation that produces otocephaly. Juriloff, D.M., Sulik, K.K., Roderick, T.H., Hogan, B.K. J. Craniofac. Genet. Dev. Biol. (1985) [Pubmed]
  6. 2,3-Dihydroxybenzoic acid attenuates kanamycin-induced volume reduction in mouse utricular type I hair cells. Severinsen, S.A., Kirkegaard, M., Nyengaard, J.R. Hear. Res. (2006) [Pubmed]
  7. Prevention of trypan Blue-induced exencephaly and otocephaly in gestating albino mice. Zawoiski, E.J. Toxicol. Appl. Pharmacol. (1975) [Pubmed]
  8. Single daily dose therapy with aminoglycosides. Nordström, L., Lerner, S.A. J. Hosp. Infect. (1991) [Pubmed]
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