Analysis Tools|
Allele Symbol Allele Name Allele ID |
Nkx2-5tm1.1Hkas targeted mutation 1.1, Hideko Kasahara MGI:6294718 |
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| Summary |
3 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• no mice are born, however time of death is not specified but E10.5 embryos are growth retarded
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• E10.5 embryos exhibit growth retardation
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• E10.5 embryos exhibit growth retardation
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• approximately 1/4 of mice die perinatally
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• mice exhibit a variety of cardiac malformations that are described below
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• hearts exhibit an underdeveloped left bundle branch
• acetylcholine activity in left bundle branch is reduced in E18.5 hearts
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• mice exhibit reduced AV nodal size composed of smaller cardiomyocytes at 4 weeks of age but not at P1
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• about 50% of mice exhibit abnormal tricuspid valve, including Ebstein's malformation, in which the hinges of tricuspid valve leaflets are displayed towards the apex of the right ventricle, inappropriately delaminated or tethered tricuspid valves, and/or tricuspid valve atresia
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• isomerism of the right atrial appendages
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• P10 mice exhibit an atrial septal anomaly, with poorly developed flap valve and an increase in the size of the interatrial communication and foamen ovalis, with the maximum length of the septum primum being decreased
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• 3 mice exhibit atrioventricular septal defects
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• all newborns exhibit a prominent trabecular layer in ventricular walls indicative of ventricular noncompaction
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• 80% of mice exhibit perimembranous and/or muscular ventricular septum defects in single or multiple positions
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• mice exhibit a failure of compaction of the muscular ventricular septum
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• 80% of mice exhibit perimembranous and/or muscular ventricular septum defects in single or multiple positions
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• electrophysiology studies indicate decreased ventricular effective refractory period
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• electrophysiology studies indicate increased atrioventricular Wenckebach block cycle length, atrioventricular 2:1 conduction block cycle length, and atrioventricular effective refractory period indicating impaired AV node function
• however, sinus nodal function is not affected
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• mice exhibit first degree atrioventricular (AV) block at 4 weeks, 7 months, and 17 months of age
• mice occasionally exhibit advanced AV block
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• PR interval is prolonged, indicating first degree AV block, is present at 4 weeks, 7 months, and 17 months of age, but not at P1
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• mice at all ages exhibit a wide QRS, indicating prolonged ventricular conduction times
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• hearts exhibit an underdeveloped left bundle branch
• acetylcholine activity in left bundle branch is reduced in E18.5 hearts
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• mice exhibit reduced AV nodal size composed of smaller cardiomyocytes at 4 weeks of age but not at P1
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• acetylcholinesterase activity in ventricular trabeculations and left bundle branch is reduced in E18.5 hearts
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• isomerism of the right atrial appendages
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| congenital heart disease | DOID:1682 | J:273097 , J:273096 | ||
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• Background Sensitivity: mice do not exhibit complex cardiac malformations such as atrioventricular septal defects as seen on the congenic 129S2/SvPas background
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• Background Sensitivity: about 50% of mice exhibit subtle tricuspid valve leaflet abnormalities but abnormalities are much more subtle than on the congenic 129S2/SvPas background and no tricuspid atresia or Ebsteins malformation are seen
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• 94% of mice exhibit ventricular noncompaction
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• Background Sensitivity: 50% of mice exhibit perimembranous and/or muscular ventricular septal defects in single or multiple positions, a lower percentage than on the congenic 129S2/SvPas background
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• Background Sensitivity: 50% of mice exhibit perimembranous and/or muscular ventricular septal defects in single or multiple positions, a lower percentage than on the congenic 129S2/SvPas background
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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 09/30/2025 MGI 6.24 |
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