Phenotypes associated with this allele

• Allele Symbol: Nkx2-5^tm2.1Mwc
• Allele Name: targeted mutation 2.1, Mauro W Costa
• Allele ID: MGI:5828833
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Nkx2-5^tm2.1Mwc/Nkx2-5^tm2.1Mwc	B6J.Cg-Nkx2-5^tm2.1Mwc/Mwc	MGI:5829831
ht2	Nkx2-5^tm2.1Mwc/Nkx2-5^+	B6J.Cg-Nkx2-5^tm2.1Mwc/Mwc	MGI:5829832

Genotype
MGI:5829831

hm1

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

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

cardiovascular system

abnormal heart development ( J:239808 )

abnormal heart looping ( J:239808 )

failure of heart looping ( J:239808 )

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:239808 )

• E9.5 homozygous embryos have dysmorphic hearts arrested at the looping stage, E10.5 homozygous embryos have severe growth retardation and heart abnormalities, including hypoplasia and failed cardiac looping, and no homozygous embryos were found past E11.5

Genotype
MGI:5829832

ht2

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

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 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

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 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

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