Ontology highlight
ABSTRACT:
SUBMITTER: Marshall-Phelps KLH
PROVIDER: S-EPMC7337504 | biostudies-literature | 2020 Jul
REPOSITORIES: biostudies-literature
Marshall-Phelps Katy L H KLH Kegel Linde L Baraban Marion M Ruhwedel Torben T Almeida Rafael G RG Rubio-Brotons Maria M Klingseisen Anna A Benito-Kwiecinski Silvia K SK Early Jason J JJ Bin Jenea M JM Suminaite Daumante D Livesey Matthew R MR Möbius Wiebke W Poole Richard J RJ Lyons David A DA
The Journal of cell biology 20200701 7
Through a genetic screen in zebrafish, we identified a mutant with disruption to myelin in both the CNS and PNS caused by a mutation in a previously uncharacterized gene, slc12a2b, predicted to encode a Na+, K+, and Cl- (NKCC) cotransporter, NKCC1b. slc12a2b/NKCC1b mutants exhibited a severe and progressive pathology in the PNS, characterized by dysmyelination and swelling of the periaxonal space at the axon-myelin interface. Cell-type-specific loss of slc12a2b/NKCC1b in either neurons or myelin ...[more]