Ontology highlight
ABSTRACT:
SUBMITTER: Leandro J
PROVIDER: S-EPMC6535113 | biostudies-literature | 2019 Apr
REPOSITORIES: biostudies-literature
Leandro João J Violante Sara S Argmann Carmen A CA Hagen Jacob J Dodatko Tetyana T Bender Aaron A Zhang Wei W Williams Evan G EG Bachmann Alexis M AM Auwerx Johan J Yu Chunli C Houten Sander M SM
Molecular genetics and metabolism 20190124 4
Inbred mouse strains are a cornerstone of translational research but paradoxically many strains carry mild inborn errors of metabolism. For example, α-aminoadipic acidemia and branched-chain ketoacid dehydrogenase deficiency are known in C57BL/6J mice. Using RNA sequencing, we now reveal the causal variants in Dhtkd1 and Bckdhb, and the molecular mechanism underlying these metabolic defects. C57BL/6J mice have decreased Dhtkd1 mRNA expression due to a solitary long terminal repeat (LTR) in intro ...[more]