Phenotypes Associated with This Genotype

Genotype
MGI:6286233

• Allelic Composition: Nkx2-5^tm1.1Burg/Nkx2-5⁺
• Genetic Background: involves: 129S1/Sv * 129S2/SvPasCrl * 129X1/SvJ

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

mortality/aging

neonatal lethality, incomplete penetrance ( J:251389 )

• some newborn mice survive for only a few hours or until P1

postnatal lethality, incomplete penetrance ( J:251389 )

• premature death of up to 15% by 3 weeks of age

cardiovascular system

atrial septal defect ( J:251389 )

• 36% of P1 mice exhibit atrial septal defect

ostium secundum atrial septal defect ( J:251389 )

• 2 of 5 adult mice exhibit atrial septal defect in the septum secundum

abnormal heart ventricle morphology ( J:251389 )

• some P1 hearts exhibit abnormal ventricular wall

ventricular septal defect ( J:251389 )

• 3 of 5 adult mice exhibit ventricular septal defect

atrioventricular block ( J:251389 )

• more than 50% of 16-20 week old mice exhibit 1st degree AV block

• 2 of 12 mice exhibit 2nd degree AV block

• however, echocardiography of 16-20 week old mice shows no contractile dysfunction or dilation of hearts

prolonged PR interval ( J:251389 )

• more than 50% of 16-20 week old mice exhibit prolonged PR interval, an indication of 1st degree AV block

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
congenital heart disease		DOID:1682		J:251389