@article{BeckerHartensteinSchenkeletal.2000,
  author    = {Lore Becker and Bettina Hartenstein and Johannes Schenkel and Jochen Kuhse and Heinrich Betz and Hans Weiher},
  title     = {Transient neuromotor phenotype in transgenic spastic mice expressing low levels of glycine receptor beta-subunit: an animal model of startle disease},
  series   = {Eur J Neurosci. (European Journal of Neuroscience)},
  volume    = {12},
  number    = {1},
  publisher = {Blackwell},
  issn      = {0953-816X},
  doi       = {10.1046/j.1460-9568.2000.00877.x},
  pages     = {27 -- 32},
  year      = {2000},
  abstract  = {Startle disease or hereditary hyperekplexia has been shown to result from mutations in the alpha1-subunit gene of the inhibitory glycine receptor (GlyR). In hyperekplexia patients, neuromotor symptoms generally become apparent at birth, improve with age, and often disappear in adulthood. Loss-of-function mutations of GlyR alpha or beta-subunits in mice show rather severe neuromotor phenotypes. Here, we generated mutant mice with a transient neuromotor deficiency by introducing a GlyR beta transgene into the spastic mouse (spa/spa), a recessive mutant carrying a transposon insertion within the GlyR beta-subunit gene. In spa/spa TG456 mice, one of three strains generated with this construct, which expressed very low levels of GlyR beta transgene-dependent mRNA and protein, the spastic phenotype was found to depend upon the transgene copy number. Notably, mice carrying two copies of the transgene showed an age-dependent sensitivity to tremor induction, which peaked at approximately 3-4 weeks postnatally. This closely resembles the development of symptoms in human hyperekplexia patients, where motor coordination significantly improves after adolescence. The spa/spa TG456 line thus may serve as an animal model of human startle disease.},
  language  = {en}
}