Mouse Genome Informatics
cn
    Bmpr1atm1Bhr/Bmpr1atm2.1Bhr
Tg(GATA6-cre)#Jbeb/0

involves: 129S7/SvEvBrd * C57BL/6 * FVB
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
cardiovascular system
• 45% of 3-month old mutants show longer mitral septal leaflets
• exhibit a premature disappearance of the myocardial layer in the tricuspid mural leaflet (present at E14.5 but absent at E15.5)
• the posterior annulus fibrosis is displaced downward into the right ventricular cavity in one of six mutants
• 36% of 3-month old mutants show longer tricuspid mural leaflets than control valves
• 3-month old mutants show significantly decreased left ventricular (LV) ejection fraction and increased LV-end-systolic dimension and LV-end-diastolic dimension
• show a 2-fold increase in left atrial pressure consistent with mitral insufficiency
• isolated Langendorff perfused mutant hearts show a delta wave with abnormal surface ECG
• hearts with abnormal surface ECG show a base-to-apex activation pattern with evidence of a posterior paraseptal bypass tract
• the annulus fibrosus is disrupted resulting in ventricular preexcitation
• 6 of 33 mutants, aged between 2 and 6 months, show absence of PR interval

muscle
• 3-month old mutants show significantly decreased left ventricular (LV) ejection fraction and increased LV-end-systolic dimension and LV-end-diastolic dimension

Mouse Models of Human Disease
OMIM IDRef(s)
Ebstein Anomaly 224700 J:111392
Wolff-Parkinson-White Syndrome 194200 J:111392