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Genes & Genomics

, Volume 34, Issue 1, pp 107–110 | Cite as

The Spinner-IBMM mouse is a new spontaneous mutant in the Tmie gene

  • Eva D’Amico
  • Virginie Stygelbout
  • Stéphane SchurmansEmail author
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Abstract

A recessively inherited, spontaneous mutation named Spinner-IBMM (SI) was identified in a transgenic mouse colony in our institute. SI mutant mice displayed hyperactivity, including a severe circling behavior, ataxia and inability to swim. Gene mapping revealed that the causative gene was located on a 35 Mb DNA fragment on chromosome 9. Candidate genes sequencing in this DNA fragment identified a new mutant allele in the Tmie gene. The identified mutant is characterized by a nucleotide deletion in exon 5, leading to a frameshift and a premature STOP codon. It has been reported that inactivating mutations in the mouse Tmie gene result in an identical phenotype, probably resulting from defects in the inner ear. However, the exact function of the Tmie protein in the ear and other organs is still unknown. The analysis of this new mouse mutant could contribute to a better understanding of Tmie functions in vivo in the ear and other organs.

Keywords

Mouse mutant Tmie protein Hyperactivity Ataxia Hearing loss Inner ear 

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Copyright information

© The Genetics Society of Korea and Springer Netherlands 2012

Authors and Affiliations

  • Eva D’Amico
    • 1
  • Virginie Stygelbout
    • 1
  • Stéphane Schurmans
    • 1
    • 2
    Email author
  1. 1.Institut de Recherches Interdisciplinaires en Biologie Humaine et Moléculaire (IRIBHM), Institut de Biologie et de Médecine Moléculaires (IBMM), Faculté de MédecineUniversité Libre de BruxellesBruxellesBelgium
  2. 2.Stéphane Schurmans, Laboratoire de Génétique Fonctionnelle, GIGA-Research CentreUniversité de LiègeLiègeBelgium

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