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

Table 1 Information of three distinct DINE mutant mice

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)

^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

ISSN: 2051-5960