Mouse Genome Informatics
ht
    Ryr2tm1Slh/Ryr2+
involves: 129S7/SvEvBrd * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       

Ryr2tm1Slh/Ryr+ MRI heart images

cardiovascular system
• systolic function is modestly reduced as demonstrated by decreased peak of aortic velocity
• exhibit a lowered right ventricular end-diastolic volume and higher right ventricular end-diastolic pressure, indicating restrictive ventricular filling, however show no evidence of fibrofatty infiltration or arrhythmogenic right ventricular dysplasia
• develop ventricular tachycardia after caffeine and epinephrine injection or with programmed ventricular stimulation
• multiple premature ventricular beats are seen after isoproterenol treatment (a beta-adrenergic receptor agonist), however no sustained ventricular arrhythmias are seen
• isolated cardiomyocytes exhibit a higher incidence of spontaneous calcium oscillations in the absence and presence of isoproterenol

muscle
• systolic function is modestly reduced as demonstrated by decreased peak of aortic velocity
• exhibit a lowered right ventricular end-diastolic volume and higher right ventricular end-diastolic pressure, indicating restrictive ventricular filling, however show no evidence of fibrofatty infiltration or arrhythmogenic right ventricular dysplasia

Mouse Models of Human Disease
OMIM IDRef(s)
Arrhythmogenic Right Ventricular Dysplasia, Familial, 2; ARVD2 600996 J:111780
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, with or without Atrial Dysfunction and/or Dilated Cardiomyopathy; CPVT1 604772 J:111780