Phenotypic heterogeneity and disease course in three murine strains with mutations in genes encoding for α1 and β glycine receptor subunits
Phenotypic heterogeneity and disease course in three murine strains with mutations in genes encoding for α1 and β glycine receptor subunits
复制标题
三种α1和β甘氨酸受体亚基编码基因突变的小鼠品系的表型异质性和疾病过程
DOI：
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发表时间：
1997
期刊：
影响因子：
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通讯作者：
E. Simon
中科院分区：
文献类型：
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作者：
E. Simon
Impaired glycinergic inhibition causes human hyperekplexia, and may be involved in the pathogenesis of movement disorders associated with uremia, spinal cord lesions, DDT poisoning, and tetanus. Three autosomal recessive mutant mouse strains with single‐gene mutations affecting either the α1 (spasmodic and oscillator) or β (spastic) subunits of the glycine receptor were studied. Serial videotaped examinations assessed the severity of hyperkinetic features. Homozygote oscillator mice appeared normal until postnatal day (P) 11–14, when decreased exploratory movements, spastic gait, stimulus‐induced myoclonic bouts, rigidity, and tremor were noticeable. All symptoms gradually worsened until death by P21–P23. In contrast, spastic and spasmodic mice were most severely affected by the 3rd–5th week of life and had a lessening of symptom severity in adulthood. Within each mutant strain, there was marked interanimal variation of severity of the other motor abnormalities, possibly because of stochastic variability in developmental processes. These mutants represent good animal models for elucidation of molecular and cellular issues regarding the glycine receptor and for the study of pathogenetic mechanisms of movement disorders.
痉挛性候选基因的遗传图谱和评估，痉挛性是一种具有异常惊吓反应的神经系统小鼠突变。
影响因子：
4.4
作者：
Buckwalter,MS;Testa,CM;Noebels,JL;Camper,SA
通讯作者：
Camper,SA