Phenotypes Associated with This Genotype

Genotype
MGI:5882084

• Allelic Composition: Nkx2-5^tm3.1Mwc/Nkx2-5⁺
• Genetic Background: B6J.Cg-Nkx2-5^tm3.1Mwc/Mwc

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

cardiovascular system

dilated pulmonary artery ( J:239808 )

• E18.5 heart shows increased pulmonary artery diameter, but no abnormality in aortic diameter

abnormal heart morphology ( J:239808 )

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

abnormal atrioventricular node morphology ( J:239808 )

• highly dysmorphic appearance of atrioventricular node region in heterozygotes

abnormal heart apex morphology ( J:239808 )

dilated heart right atrium ( J:239808 )

atrial septal defect ( J:239808 )

• 12% show atrial septal defects, which are not found in control or I183M mutant heterozygotes

patent cardiac foramen ovale ( J:239808 )

• in 88% of heterozgyous adults

abnormal heart right ventricle morphology ( J:239808 )

• at 15 weeks of age the right ventricle displays a shift to the base with a rounded apex relative to controls

dilated heart right ventricle ( J:239808 )

decreased heart right ventricle muscle contractility ( J:239808 )

• significant decrease in right ventricle ejection fraction

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 3 of 8 heterozygotes showed possible split QRS waves

prolonged PQ interval ( J:239808 )

prolonged QRS complex duration ( J:239808 )

shortened ST segment ( J:239808 )

• small tendency for decreased ST interval

abnormal sinoatrial node conduction ( J:239808 )

sinoatrial block ( J:239808 )

abnormal myocardial fiber physiology ( J:239808 )

• neonatal cardiomyocytes show a decrease in basal and maximal respiration compared with control cardiomyocytes

muscle

abnormal atrioventricular node morphology ( J:239808 )

• highly dysmorphic appearance of atrioventricular node region in heterozygotes

decreased heart right ventricle muscle contractility ( J:239808 )

• significant decrease in right ventricle ejection fraction

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