Inner ear and kidney anomalies caused by IAP insertion in an intron of the Eya1 gene in a mouse model of BOR syndrome.

@article{Johnson1999InnerEA,
  title={Inner ear and kidney anomalies caused by IAP insertion in an intron of the Eya1 gene in a mouse model of BOR syndrome.},
  author={Kenneth R. Johnson and Susan A. Cook and Lawrence C. Erway and Antony Matthews and L. Philip Sanford and Nancy E Paradies and Rick A Friedman},
  journal={Human molecular genetics},
  year={1999},
  volume={8 4},
  pages={645-53}
}
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… CONTINUE READING

Citations

Publications citing this paper.
Showing 1-10 of 35 extracted citations

Similar Papers

Loading similar papers…