Using homologous recombination in the ES cells, R67Q mutation found in humans with exertion-induced polymorphic ventricular tachycardia (PMVT), bidirectional ventricular tachycardia (BiVT) and syncope was introduced into the Kcnj2 gene. The target vector contained R67Q-KCNJ2 with a neo cassette inserted into the primary sequence, flanked with loxP sites. (J:319395)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count