Precision mouse models of Yars/dominant intermediate Charcot-Marie-Tooth disease type C and Sptlc1/hereditary sensory and autonomic neuropathy type 1.

ABSTRACT: Animal models of neurodegenerative diseases such as inherited peripheral neuropathies sometimes accurately recreate the pathophysiology of the human disease, and sometimes accurately recreate the genetic perturbations found in patients. Ideally, models achieve both, but this is not always possible; nonetheless, such models are informative. Here we describe two animal models of inherited peripheral neuropathy: mice with a mutation in tyrosyl tRNA-synthetase, Yars^E196K , modeling dominant intermediate Charcot-Marie-Tooth disease type C (diCMTC), and mice with a mutation in serine palmitoyltransferase long chain 1, Sptlc1^C133W , modeling hereditary sensory and autonomic neuropathy type 1 (HSAN1). Yars^E196K mice develop disease-relevant phenotypes including red

SUBMITTER: Hines TJ 

PROVIDER: S-EPMC9170831 | biostudies-literature | 2022 Nov

REPOSITORIES: biostudies-literature