Phenotypes associated with this allele

• Allele Symbol: Nkx2-5^tm1.1Burg
• Allele Name: targeted mutation 1.1, Patrick G Burgon
• Allele ID: MGI:6286225
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Nkx2-5^tm1.1Burg/Nkx2-5^tm1.1Burg	involves: 129S1/Sv * 129S2/SvPasCrl * 129X1/SvJ	MGI:6286230
ht2	Nkx2-5^tm1.1Burg/Nkx2-5^+	involves: 129S1/Sv * 129S2/SvPasCrl * 129X1/SvJ	MGI:6286233

Genotype
MGI:6286230

hm1

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

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:251389 )

• last survival of embryos is seen at E11.5, with normal numbers at E8.5 and E9.5, indicating that embryos do not survive beyond E10.5

embryo

embryonic growth retardation ( J:251389 )

• growth retardation at E10.5

decreased embryo size ( J:251389 )

• embryos are smaller at E9.5

growth/size/body

embryonic growth retardation ( J:251389 )

• growth retardation at E10.5

decreased embryo size ( J:251389 )

• embryos are smaller at E9.5

cardiovascular system

abnormal trabecula carnea morphology ( J:251389 )

• E9.5 and E10.5 hearts show a decrease or absence of trabeculation in the ventricle

thin myocardium ( J:251389 )

• E9.5 and E10.5 hearts show a thinner myocardium wall in the atria and ventricle

absent atrioventricular cushions ( J:251389 )

• heart shows absence of endocardial cushion formation at E9.5 and E10.5

delayed heart development ( J:251389 )

• heart shows an absence of epithelial-to-mesenchymal transition of the endocardium in the atrioventricular canal at E9.5 and E10.5, indicating delayed heart development

small heart ( J:251389 )

pericardial effusion ( J:251389 )

• by E10.5, all embryos show pericardial effusion

homeostasis/metabolism

pericardial effusion ( J:251389 )

• by E10.5, all embryos show pericardial effusion

muscle

abnormal trabecula carnea morphology ( J:251389 )

• E9.5 and E10.5 hearts show a decrease or absence of trabeculation in the ventricle

thin myocardium ( J:251389 )

• E9.5 and E10.5 hearts show a thinner myocardium wall in the atria and ventricle

Genotype
MGI:6286233

ht2

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

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