Article (Scientific journals)
The Spinner-IBMM mouse is a new spontaneous mutant in the Tmie gene
D'Amico, E.; Stygelbout, V.; Schurmans, Stéphane
2012In Genes and Genomics, 34, p. 107-110
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Abstract :
[en] 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.
Disciplines :
Genetics & genetic processes
Author, co-author :
D'Amico, E.
Stygelbout, V.
Schurmans, Stéphane  ;  Université de Liège - ULiège > Département de sciences fonctionnelles > Biochimie métabolique vétérinaire
Language :
English
Title :
The Spinner-IBMM mouse is a new spontaneous mutant in the Tmie gene
Publication date :
2012
Journal title :
Genes and Genomics
ISSN :
1976-9571
eISSN :
2092-9293
Publisher :
The Korean Society of Genetics, South Korea
Volume :
34
Pages :
107-110
Peer reviewed :
Peer Reviewed verified by ORBi
Available on ORBi :
since 17 February 2012

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