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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Nkx2-5tm2.1Mwc
targeted mutation 2.1, Mauro W Costa
MGI:5828833
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Nkx2-5tm2.1Mwc/Nkx2-5tm2.1Mwc B6J.Cg-Nkx2-5tm2.1Mwc/Mwc MGI:5829831
ht2
 		Nkx2-5tm2.1Mwc/Nkx2-5+ B6J.Cg-Nkx2-5tm2.1Mwc/Mwc MGI:5829832


Genotype
MGI:5829831
hm1
Allelic
Composition		 Nkx2-5tm2.1Mwc/Nkx2-5tm2.1Mwc
Genetic
Background		 B6J.Cg-Nkx2-5tm2.1Mwc/Mwc
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nkx2-5tm2.1Mwc mutation (0 available); any Nkx2-5 mutation (21 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
cardiovascular system

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		 Nkx2-5tm2.1Mwc/Nkx2-5+
Genetic
Background		 B6J.Cg-Nkx2-5tm2.1Mwc/Mwc
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nkx2-5tm2.1Mwc mutation (0 available); any Nkx2-5 mutation (21 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
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
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
decreased cardiac stroke volume ( J:239808 )
• distinct from heterozygotes with a proline substitution, these heterozygotes have decreased left ventricular stroke volume
decreased heart 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
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
abnormal QRS complex ( J:239808 )
• wide variability in QRS intervals in nonanesthetized electrocardiograms, with some showing increased QRS
abnormal ST segment ( J:239808 )
• widened ST intervals
shortened ST segment ( J:239808 )
• small tendency for decreased ST interval

muscle
atrioventricular node hypoplasia ( J:239808 )
• reduction in node size
decreased heart 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




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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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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory