TY  - JOUR
U1  - Zeitschriftenartikel, wissenschaftlich - begutachtet (reviewed)
A1  - Becker, Lore
A1  - Hartenstein, Bettina
A1  - Schenkel, Johannes
A1  - Kuhse, Jochen
A1  - Betz, Heinrich
A1  - Weiher, Hans
T1  - Transient neuromotor phenotype in transgenic spastic mice expressing low levels of glycine receptor beta-subunit: an animal model of startle disease
JF  - Eur J Neurosci. (European Journal of Neuroscience)
N2  - 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.
Y1  - 2000
SN  - 0953-816X
SS  - 0953-816X
U6  - https://doi.org/10.1046/j.1460-9568.2000.00877.x
DO  - https://doi.org/10.1046/j.1460-9568.2000.00877.x
PM  - 10651857
VL  - 12
IS  - 1
SP  - 27
EP  - 32
PB  - Blackwell
ER  -