Phenotypes Associated with This Genotype

Genotype
MGI:3663711

• Allelic Composition: Bmpr1a^tm1Bhr/Bmpr1a^tm2.1Bhr; Tg(GATA6-cre)#Jbeb/0
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6 * FVB

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

cardiovascular system

abnormal mitral valve cusp morphology ( J:111392 )

• 45% of 3-month old mutants show longer mitral septal leaflets

abnormal tricuspid valve morphology ( J:111392 )

• exhibit a premature disappearance of the myocardial layer in the tricuspid mural leaflet (present at E14.5 but absent at E15.5)

Ebstein's malformation of tricuspid valve ( J:111392 )

• the posterior annulus fibrosis is displaced downward into the right ventricular cavity in one of six mutants

abnormal tricuspid valve cusp morphology ( J:111392 )

• 36% of 3-month old mutants show longer tricuspid mural leaflets than control valves

decreased cardiac muscle contractility ( J:111392 )

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

mitral valve regurgitation ( J:111392 )

• show a 2-fold increase in left atrial pressure consistent with mitral insufficiency

abnormal impulse conducting system conduction ( J:111392 )

• 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

absent PR interval ( J:111392 )

• 6 of 33 mutants, aged between 2 and 6 months, show absence of PR interval

muscle

decreased cardiac muscle contractility ( J:111392 )

• 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		DO ID	OMIM ID(s)	Ref(s)
Ebstein anomaly		DOID:14289	OMIM:224700	J:111392
Wolff-Parkinson-White syndrome		DOID:384	OMIM:194200	J:111392