Beethoven, a mouse model for dominant, progressive hearing loss DFNA36

Nat Genet. 2002 Mar;30(3):257-8. doi: 10.1038/ng848. Epub 2002 Feb 19.


Despite recent progress in identifying genes underlying deafness, there are still relatively few mouse models of specific forms of human deafness. Here we describe the phenotype of the Beethoven (Bth) mouse mutant and a missense mutation in Tmc1 (transmembrane cochlear-expressed gene 1). Progressive hearing loss (DFNA36) and profound congenital deafness (DFNB7/B11) are caused by dominant and recessive mutations of the human ortholog, TMC1 (ref. 1), for which Bth and deafness (dn) are mouse models, respectively.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Animals
  • Deafness / genetics*
  • Disease Models, Animal*
  • Genes, Dominant
  • Genes, Recessive
  • Hair Cells, Auditory / metabolism
  • Humans
  • In Situ Hybridization
  • Membrane Proteins / genetics*
  • Mice
  • Mice, Mutant Strains
  • Molecular Sequence Data
  • Mutation, Missense
  • Phenotype


  • Membrane Proteins
  • TMC1 protein, human

Associated data

  • GENBANK/AF417579