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Table 1 Information of three distinct DINE mutant mice

From: Distinct functional consequences of ECEL1/DINE missense mutations in the pathogenesis of congenital contracture disorders

Name Generation method Mutation type DINE mRNA level DINE protein level Lethality a Motor nerves in hindlimb muscles b Abducens motor nerves Reference
DINE-deficient gene targeting gene disruption complete loss complete loss Yes axonal arborization defect ND [23, 24]
C760R knock-in CRISPR/Cas9 missense mutation almost same altered localization Yes axonal arborization defect axon guidance defects c(stalled or wandering) [24]
G607S knock-in CRISPR/Cas9 missense mutation strongly reduced (due to abnormal splicing) strongly reduced Yes axonal arborization defect axon guidance defects c(stalled or wandering)  
  1. a Mutant mice die immediately after birth due to respiratory failure; b Hindlimb muscles means gracilis anterior, rectus femoris and foot muscles; ND, no data available; c The penetrance and expressivity were varied among samples