Identification of quantitative trait loci for survival in the mutant dynactin p150Glued mouse model of motor neuron disease.

ABSTRACT: Amyotrophic lateral sclerosis (ALS) is the most common degenerative motor neuron disorder. Although most cases of ALS are sporadic, 5-10% of cases are familial, with mutations associated with over 40 genes. There is variation of ALS symptoms within families carrying the same mutation; the disease may develop in one sibling and not in another despite the presence of the mutation in both. Although the cause of this phenotypic variation is unknown, it is likely related to genetic modifiers of disease expression. The identification of ALS causing genes has led to the development of transgenic mouse models of motor neuron disease. Similar to families with familial ALS, there are background-dependent differences in disease phenotype in transgenic mouse models of ALS suggesting that, as in human

SUBMITTER: Alexander GM 

PROVIDER: S-EPMC9477371 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature