Human Molecular Genetics, Vol 8, 645-653, Copyright © 1999 by Oxford University Press
KR Johnson, SA Cook, LC Erway, AN Matthews, LP Sanford, NE Paradies and RA Friedman
A spontaneous mutation causing deafness and circling behavior was
discovered in a C3H/HeJ colony of mice at the Jackson Laboratory.
Pathological analysis of mutant mice revealed gross morphological
abnormalities of the inner ear, and also dysmorphic or missing kidneys. The
deafness and abnormal behavior were shown to be inherited as an autosomal
recessive trait and mapped to mouse chromosome 1 near the position of the
Eya1 gene. The human homolog of this gene, EYA1, has been shown to underly
branchio-oto-renal (BOR) syndrome, an autosomal dominant disorder
characterized by hearing loss with associated branchial and renal
anomalies. Molecular analysis of the Eya1 gene in mutant mice revealed the
insertion of an intracisternal A particle (IAP) element in intron 7. The
presence of the IAP insertion was associated with reduced expression of the
normal Eya1 message and formation of additional aberrant transcripts. The
hypomorphic nature of the mutation may explain its recessive inheritance,
if protein levels in homozygotes, but not heterozygotes, are below a
critical threshold needed for normal developmental function. The new mouse
mutation is designated Eya1(bor) to denote its similarity to human BOR
syndrome, and will provide a valuable model for studying mutant gene
expression and etiology.
ARTICLES
Inner ear and kidney anomalies caused by IAP insertion in an intron of the Eya1 gene in a mouse model of BOR syndrome
The Jackson Laboratory, 600 Main Street, Bar Harbor, ME 04609, USA. krj@jax.org
CiteULike 
Connotea 
Del.icio.us What's this?
This article has been cited by other articles:
|
|
 |
|
  L. H. Gagnon, C. M. Longo-Guess, M. Berryman, J.-B. Shin, K. W. Saylor, H. Yu, P. G. Gillespie, and K. R. Johnson The Chloride Intracellular Channel Protein CLIC5 Is Expressed at High Levels in Hair Cell Stereocilia and Is Essential for Normal Inner Ear Function J. Neurosci., October 4, 2006; 26(40): 10188 - 10198. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 M. Yamamoto, L. Cui, K. Johkura, K. Asanuma, Y. Okouchi, N. Ogiwara, and K. Sasaki Branching ducts similar to mesonephric ducts or ureteric buds in teratomas originating from mouse embryonic stem cells Am J Physiol Renal Physiol, January 1, 2006; 290(1): F52 - F60. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 C. M. Longo-Guess, L. H. Gagnon, S. A. Cook, J. Wu, Q. Y. Zheng, and K. R. Johnson A missense mutation in the previously undescribed gene Tmhs underlies deafness in hurry-scurry (hscy) mice PNAS, May 31, 2005; 102(22): 7894 - 7899. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 F. Banno, K. Kaminaka, K. Soejima, K. Kokame, and T. Miyata Identification of Strain-specific Variants of Mouse Adamts13 Gene Encoding von Willebrand Factor-cleaving Protease J. Biol. Chem., July 16, 2004; 279(29): 30896 - 30903. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 C.-M. Li, M. Guo, A. Borczuk, C. A. Powell, M. Wei, H. M. Thaker, R. Friedman, U. Klein, and B. Tycko Gene Expression in Wilms' Tumor Mimics the Earliest Committed Stage in the Metanephric Mesenchymal-Epithelial Transition Am. J. Pathol., June 1, 2002; 160(6): 2181 - 2190. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 C. C. Morton Genetics, genomics and gene discovery in the auditory system Hum. Mol. Genet., May 15, 2002; 11(10): 1229 - 1240. [Abstract] [Full Text] [PDF]
|
|