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Phenotypes Associated with This Genotype
Genotype
MGI:6286233
Allelic
Composition
Nkx2-5tm1.1Burg/Nkx2-5+
Genetic
Background
involves: 129S1/Sv * 129S2/SvPasCrl * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nkx2-5tm1.1Burg mutation (0 available); any Nkx2-5 mutation (14 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• some newborn mice survive for only a few hours or until P1
• premature death of up to 15% by 3 weeks of age

cardiovascular system
• 36% of P1 mice exhibit atrial septal defect
• 2 of 5 adult mice exhibit atrial septal defect in the septum secundum
• some P1 hearts exhibit abnormal ventricular wall
• 3 of 5 adult mice exhibit ventricular septal defect
• 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
• 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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
08/13/2019
MGI 6.14
The Jackson Laboratory