Table 7.
Gene | Genetic Modification | Phenotype | Reference Nos. |
---|---|---|---|
RyR2 (NH2-terminal region) | RyR2-R176Q/+ | CPVT (ARVC2) | 534 |
RyR2-R420W | CPVT | 851 | |
RyR2 (central region) | RyR2-P2328S/+ and RyR2-P2328S/P2328S | CPVT | 364, 1340 |
RyR2-P2328S/P2328S | AF | 569, 832, 996, 1334, 1337 | |
RyR2-R2474S/+ | CPVT | 585, 629, 1156 | |
RyR2 (COOH-terminal region) | RyR2-R4496C/+ | CPVT | 172, 673 |
Casq2 | Casq2-D307H overexpression | CPVT | 266 |
Casq2−/− | CPVT and cardiac hypertrophy | 581 | |
Casq2+/− | No phenotype | 199 | |
Casq2-D307H/D307H | Spontaneous arrhythmias | 1078 | |
Casq2-ΔE9/ΔE9 | Spontaneous arrhythmias; cardiac hypertrophy with age | 1077 | |
Casq2-R33Q/R33Q | Spontaneous arrhythmias | 951 |