TY  - JOUR
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 β‐subunit : an animal model of startle disease
T2  - European journal of neuroscience
N2  - Startle disease or hereditary hyperekplexia has been shown to result from mutations in the α1‐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 α or β‐subunits in mice show rather severe neuromotor phenotypes. Here, we generated mutant mice with a transient neuromotor deficiency by introducing a GlyR β transgene into the spastic mouse (spa/spa), a recessive mutant carrying a transposon insertion within the GlyR β‐subunit gene. In spa/spa TG456 mice, one of three strains generated with this construct, which expressed very low levels of GlyR β 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 ∼ 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.
KW  - glycine receptor
KW  - hereditary hyperekplexia
KW  - spa/spa TG456 mice
KW  - startle syndrome
Y1  - 2000
UR  - http://publikationen.ub.uni-frankfurt.de/frontdoor/index/index/docId/48579
UR  - https://nbn-resolving.org/urn:nbn:de:hebis:30:3-485791
SN  - 1460-9568
SN  - 0953-816X
N1  - Re-use of this article is permitted in accordance with the Creative Commons Deed, Attribution 2.5, which does not permit commercial exploitation.
VL  - 12
IS  - 1
SP  - 27
EP  - 32
PB  - Blackwell
CY  - Oxford [u. a.]
ER  -