Phenotypes Associated with This Genotype

Genotype
MGI:5907122

• Allelic Composition: Prox1^tm2Gco/Prox1^tm2Gco; Nkx2-5^tm1(cre)Rjs/Nkx2-5⁺
• Genetic Background: involves: 129S1/Sv * 129S7/SvEvBrd

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

growth/size/body

enlarged heart ( J:212185 )

• cardiomegaly at 12 weeks of age

mortality/aging

premature death ( J:212185 )

• in mice that survive postnatally, lethality becomes fully penetrant between 7 and 14 weeks

postnatal lethality, incomplete penetrance ( J:212185 )

• about half the expected number of mutants are seen at P10

cardiovascular system

abnormal heart morphology ( J:212185 )

• fast-twitch skeletal muscle gene expression is elevated in hearts

abnormal myocardial fiber morphology ( J:212185 )

• myofibrillar disarray

thin myocardium ( J:212185 )

• myocardial thinning at late stages

thick tricuspid valve cusps ( J:212185 )

• thickening of the tricuspid valve leaflets

abnormal interventricular septum morphology ( J:212185 )

• mild ventricular septal defects

interventricular septum membranous part aneurysm ( J:212185 )

• the membranous portion of the ventricular septum is aneurysmal

abnormal interventricular septum muscular part morphology ( J:212185 )

• 20% of hearts show imperfections in the muscular ventricular septum

enlarged heart ( J:212185 )

• cardiomegaly at 12 weeks of age

dilated heart ( J:212185 )

• chamber dilation in both the atria and ventricles, with severity of dilation increasing with age to eventually affect all cardiac chambers

dilated cardiomyopathy ( J:212185 )

• between 8 and 14 weeks of age, all hearts are characterized by cardiac enlargement, chamber dilation, ventricular wall thinning, cardiac stress marker activation, and systolic dysfunction

• however, no obvious concentric cardiomyocyte hypertrophy is seen

decreased cardiac muscle contractility ( J:212185 )

• dilated and poorly contracting ventricles at 6 weeks of age, with mean left ventricular ejection fraction less than 30%

homeostasis/metabolism

abnormal cardiac thrombosis ( J:212185 )

• mice develop large intra-atrial and intraventricular thrombi at 12 weeks of age, indicating hemostasis associated with poor systolic function

• thrombi are seen as early as 8 weeks of age

abnormal atrial thrombosis ( J:212185 )

• large intra-atrial thrombi at 12 weeks of age

abnormal ventricular thrombosis ( J:212185 )

• large intraventricular thrombi at 12 weeks of age

muscle

abnormal myocardial fiber morphology ( J:212185 )

• myofibrillar disarray

thin myocardium ( J:212185 )

• myocardial thinning at late stages

dilated cardiomyopathy ( J:212185 )

• between 8 and 14 weeks of age, all hearts are characterized by cardiac enlargement, chamber dilation, ventricular wall thinning, cardiac stress marker activation, and systolic dysfunction

• however, no obvious concentric cardiomyocyte hypertrophy is seen

decreased cardiac muscle contractility ( J:212185 )

• dilated and poorly contracting ventricles at 6 weeks of age, with mean left ventricular ejection fraction less than 30%

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
dilated cardiomyopathy		DOID:12930	OMIM:PS115200	J:212185