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Gene Review

Tmie  -  transmembrane inner ear

Mus musculus

Synonyms: 5131400L21Rik, Mm.87012, Transmembrane inner ear expressed protein, sr
 
 
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Disease relevance of Tmie

  • The recessive mutation at the mouse spinner (sr) locus results in hearing loss and vestibular dysfunction due to neuroepithelial defects in the inner ear [1].
 

High impact information on Tmie

  • We found that in contrast to the classic PLP/DM20 products, sr-proteins are mainly expressed in developing thymocytes in thymus and in T- and B-lymphocytes in spleen [2].
  • The sr-isoforms are localized to the cell bodies of both oligodendrocytes and neurons [3].
 

Analytical, diagnostic and therapeutic context of Tmie

References

  1. Mutation of the novel gene Tmie results in sensory cell defects in the inner ear of spinner, a mouse model of human hearing loss DFNB6. Mitchem, K.L., Hibbard, E., Beyer, L.A., Bosom, K., Dootz, G.A., Dolan, D.F., Johnson, K.R., Raphael, Y., Kohrman, D.C. Hum. Mol. Genet. (2002) [Pubmed]
  2. Expression of soma-restricted proteolipid/DM20 proteins in lymphoid cells. Feng, J.M., Fernandes, A.O., Bongarzone, E.R., Campagnoni, C.W., Kampf, K., Campagnoni, A.T. J. Neuroimmunol. (2003) [Pubmed]
  3. Embryonic expression of the soma-restricted products of the myelin proteolipid gene in motor neurons and muscle. Jacobs, E.C., Bongarzone, E.R., Campagnoni, C.W., Campagnoni, A.T. Neurochem. Res. (2004) [Pubmed]
  4. Cochlear pathology of the circling mouse: a new mouse model of DFNB6. Chung, W.H., Kim, K.R., Cho, Y.S., Cho, D.Y., Woo, J.H., Ryoo, Z.Y., Cho, K.I., Hong, S.H. Acta Otolaryngol. (2007) [Pubmed]
 
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