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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Gene Review: 

sy  -  shaker-with-syndactylism deletion region

Mus musculus

 
 
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High impact information on sy

  • Shaker-with-syndactylism (sy) is a classic deaf mouse mutant and we show here that a second allele, sy(ns), is associated with abnormal production of endolymph, the fluid bathing sensory hair cells [1].
  • Mutations of the mouse Twist and sy (fibrillin 2) genes induced by chemical mutagenesis of ES cells [2].
  • The genetic relationships described here will aid in positional cloning efforts to identify the genes responsible for the disparate phenotypes associated with the sy locus [3].
  • The original shaker-with-syndactylism mutation (sy) is a contiguous gene deletion syndrome [3].
  • Tests for allelism among mice with four different mutant alleles at the shaker-with-syndactylism locus on mouse Chromosome (Chr) 18 provide evidence that the original radiation-induced mutation, sy, is a deletion including at least two genes associated with distinct phenotypes [3].

References

  1. Mutation of the Na-K-Cl co-transporter gene Slc12a2 results in deafness in mice. Dixon, M.J., Gazzard, J., Chaudhry, S.S., Sampson, N., Schulte, B.A., Steel, K.P. Hum. Mol. Genet. (1999) [Pubmed]
  2. Mutations of the mouse Twist and sy (fibrillin 2) genes induced by chemical mutagenesis of ES cells. Browning, V.L., Chaudhry, S.S., Planchart, A., Dixon, M.J., Schimenti, J.C. Genomics (2001) [Pubmed]
  3. The original shaker-with-syndactylism mutation (sy) is a contiguous gene deletion syndrome. Johnson, K.R., Cook, S.A., Zheng, Q.Y. Mamm. Genome (1998) [Pubmed]
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