Ontology highlight
ABSTRACT:
SUBMITTER: Nutter CA
PROVIDER: S-EPMC6942047 | biostudies-literature | 2019 Dec
REPOSITORIES: biostudies-literature
Nutter Curtis A CA Bubenik Jodi L JL Oliveira Ruan R Ivankovic Franjo F Sznajder Łukasz J ŁJ Kidd Benjamin M BM Pinto Belinda S BS Otero Brittney A BA Carter Helmut A HA Vitriol Eric A EA Wang Eric T ET Swanson Maurice S MS
Genes & development 20191017 23-24
Short tandem repeats (STRs) are prone to expansion mutations that cause multiple hereditary neurological and neuromuscular diseases. To study pathomechanisms using mouse models that recapitulate the tissue specificity and developmental timing of an STR expansion gene, we used rolling circle amplification and CRISPR/Cas9-mediated genome editing to generate <i>Dmpk</i> CTG expansion (CTG<sup>exp</sup>) knockin models of myotonic dystrophy type 1 (DM1). We demonstrate that skeletal muscle myoblasts ...[more]