Phenotypes associated with this allele

• Allele Symbol: Tg(GATA6-cre)#Jbeb
• Allele Name: transgene insertion #, John B E Burch
• Allele ID: MGI:3823206
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Tbx3^tm3.1Moon/Tbx3^tm3.1Moon Tg(GATA6-cre)#Jbeb/0	involves: 129 * C57BL/6	MGI:5538606
cn2	Bmpr1a^tm1Bhr/Bmpr1a^tm2.1Bhr Tg(GATA6-cre)#Jbeb/0	involves: 129S7/SvEvBrd * C57BL/6 * FVB	MGI:3663711

Genotype
MGI:5538606

cn1

• Allelic Composition: Tbx3^tm3.1Moon/Tbx3^tm3.1Moon; Tg(GATA6-cre)#Jbeb/0
• Genetic Background: involves: 129 * C57BL/6

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

cardiovascular system

atrioventricular block ( J:179977 )

• in most mice from E12.5 to E13.5

Genotype
MGI:3663711

cn2

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

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