Ontology highlight
ABSTRACT:
SUBMITTER: O'Rourke JG
PROVIDER: S-EPMC4672384 | biostudies-literature | 2015 Dec
REPOSITORIES: biostudies-literature
Neuron 20151201 5
Noncoding expansions of a hexanucleotide repeat (GGGGCC) in the C9orf72 gene are the most common cause of familial amyotrophic lateral sclerosis and frontotemporal dementia. Here we report transgenic mice carrying a bacterial artificial chromosome (BAC) containing the full human C9orf72 gene with either a normal allele (15 repeats) or disease-associated expansion (∼100-1,000 repeats; C9-BACexp). C9-BACexp mice displayed pathologic features seen in C9orf72 expansion patients, including widespread ...[more]