Phenotypes associated with this allele

• Allele Symbol: Platr4^em#Dlsp
• Allele Name: endonuclease-mediated mutation, David L Spector
• Allele ID: MGI:7388290
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Platr4^em#Dlsp/Platr4^em#Dlsp	B6.Cg-Platr4^em#Dlsp	MGI:7388292

Genotype
MGI:7388292

hm1

• Allelic Composition: Platr4^em#Dlsp/Platr4^em#Dlsp
• Genetic Background: B6.Cg-Platr4^em#Dlsp

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

mortality/aging

premature death ( J:331476 )

• 40% of young adult and mature adult mice exhibit sudden death

cardiovascular system

abnormal blood vessel morphology ( J:331476 )

• young adult mice that die suddenly show perivascular mineralization

abnormal myocardium layer morphology ( J:331476 )

• myocardial mineralization, myocardial atrophy and fibrosis is seen in 60% of young mice that die suddenly

heart left ventricle hypertrophy ( J:331476 )

• increase in left ventricular wall thickness and left ventricular mass indicating ventricular hypertrophy

abnormal heart valve morphology ( J:331476 )

• 60% of young adult mice that die suddenly exhibit cardiac valve defects with fibrocartilaginous metaplasia, fibro-osseous metaplasia, and mucinous degeneration

cardiac fibrosis ( J:331476 )

• myocardial fibrosis is seen in young mice that die suddenly

decreased cardiac output ( J:331476 )

• mice show a significant reduction of cardiac output

decreased cardiac muscle contractility ( J:331476 )

• 30% decrease in the percentage of fractional shortening, however ejection fraction is unaltered

abnormal heart echocardiography feature ( J:331476 )

• echocardiography shows 30% decrease in the percentage of fractional shortening, without altering the percentage of the ejection fraction, increase in left ventricle anterior wall in diastole and in systole, increase in left ventricular mass, and increase in cardiac output and heart rate

decreased heart rate ( J:331476 )

growth/size/body

heart left ventricle hypertrophy ( J:331476 )

• increase in left ventricular wall thickness and left ventricular mass indicating ventricular hypertrophy

muscle

abnormal myocardium layer morphology ( J:331476 )

• myocardial mineralization, myocardial atrophy and fibrosis is seen in 60% of young mice that die suddenly

heart left ventricle hypertrophy ( J:331476 )

• increase in left ventricular wall thickness and left ventricular mass indicating ventricular hypertrophy

decreased cardiac muscle contractility ( J:331476 )

• 30% decrease in the percentage of fractional shortening, however ejection fraction is unaltered

skeleton

abnormal fibrocartilage morphology ( J:331476 )

• young adult mice that die suddenly exhibit cardiac fibrocartilaginous metaplasia