Phenotypes Associated with This Genotype

Genotype
MGI:5829832

• Allelic Composition: Nkx2-5^tm2.1Mwc/Nkx2-5⁺
• Genetic Background: B6J.Cg-Nkx2-5^tm2.1Mwc/Mwc

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

cardiovascular system

abnormal heart morphology ( J:239808 )

• right ventricular dysmorphism with a shift to the base, rounded apex, and misalignment relative to the left ventricle

atrioventricular node hypoplasia ( J:239808 )

• reduction in node size

abnormal heart apex morphology ( J:239808 )

dilated heart right atrium ( J:239808 )

patent cardiac foramen ovale ( J:239808 )

• in 71% of heterozgyous adults

decreased heart left ventricle weight ( J:239808 )

• distinct from heterozygotes with a proline substitution, these heterozygotes have decreased left ventrical mass

abnormal heart right ventricle morphology ( J:239808 )

dilated heart right ventricle ( J:239808 )

decreased cardiac stroke volume ( J:239808 )

• distinct from heterozygotes with a proline substitution, these heterozygotes have decreased left ventricular stroke volume

decreased heart ventricle muscle contractility ( J:239808 )

• heterozygotes have a signficant decrease in right ventricle ejection fraction as well as a decrease in left ventricular stroke volume and end diastolic volume

decreased heart left ventricle muscle contractility ( J:239808 )

decreased heart right ventricle muscle contractility ( J:239808 )

abnormal heart left ventricle pressure ( J:239808 )

• left ventricle shows decreased end diastolic volume, stroke volume, and heart mass

irregular heartbeat ( J:239808 )

abnormal heart electrocardiography waveform feature ( J:239808 )

• under homeostatic nonanesthetized conditions there is increased PQ and QRS and a small tendency for decreased ST intervals, and occasional arrhythmic episodes were observed with highly irregular PR intervals

abnormal PR interval ( J:239808 )

• wide variability in PR intervals in nonanesthetized electrocardiograms, with some showing increased PR

prolonged PQ interval ( J:239808 )

abnormal QRS complex ( J:239808 )

• wide variability in QRS intervals in nonanesthetized electrocardiograms, with some showing increased QRS

prolonged QRS complex duration ( J:239808 )

abnormal ST segment ( J:239808 )

• widened ST intervals

shortened ST segment ( J:239808 )

• small tendency for decreased ST interval

abnormal sinoatrial node conduction ( J:239808 )

sinoatrial block ( J:239808 )

muscle

atrioventricular node hypoplasia ( J:239808 )

• reduction in node size

decreased heart ventricle muscle contractility ( J:239808 )

• heterozygotes have a signficant decrease in right ventricle ejection fraction as well as a decrease in left ventricular stroke volume and end diastolic volume

decreased heart left ventricle muscle contractility ( J:239808 )

decreased heart right ventricle muscle contractility ( J:239808 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
atrial heart septal defect 7		DOID:0110112	OMIM:108900	J:239808
hypoplastic left heart syndrome		DOID:9955	OMIM:241550 OMIM:614435	J:239808
tetralogy of Fallot		DOID:6419	OMIM:187500	J:239808