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FLASH GENE
Symbol MBNL2 contributors: mct/pgu - updated : 17-10-2015
HGNC name muscleblind-like 2 (Drosophila)
HGNC id 16746
ASSOCIATED DISORDERS
corresponding disease(s)
Susceptibility
Variant & Polymorphism
Candidate gene
Marker
Therapy target
ANIMAL & CELL MODELS
  • Mbnl2-deficient mice develop myotonia and have skeletal muscle pathology consistent with human DM
  • Mbnl2 knockout mice develop several myotonic dystrophy-associated central nervous system (CNS) features including abnormal REM sleep propensity and deficits in spatial memory
  • depletion of Mbnl proteins in mouse embryo fibroblasts leads to misregulation of thousands of alternative polyadenylation events