Table 1.
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