Phenotypes Associated with This Genotype

Genotype
MGI:5304714

• Allelic Composition: Vhl^tm1Jae/Vhl^tm1Jae; Tg(Myh6-cre)2182Mds/0
• Genetic Background: involves: 129S4/SvJae * FVB/N

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

mortality/aging

premature death ( J:179490 )

• mean survival is 9 weeks

postnatal lethality, complete penetrance ( J:193425 )

• die between P16 and P18 due to sudden cardiac death

cardiovascular system

increased angiogenesis ( J:179490 )

increased heart weight ( J:179490 )

• at 5 weeks and severe at 8 weeks

abnormal heart left ventricle morphology ( J:179490 )

• at 8 weeks, mice exhibit reduced left ventricular wall thickness and increased left ventricular end-diastolic dimension compared with control mice

decreased ventricle muscle contractility ( J:179490 )

• at 5 weeks and severe at 8 weeks

decreased heart rate ( J:193425 )

• neonates exhibit decreased heart rate at 10 days after birth

irregular heartbeat ( J:193425 )

• neonates exhibit frequent cardiac arrhythmia, consistent with sudden cardiac death

prolonged QRS complex duration ( J:193425 )

• neonates exhibit increased QRS at 10 days after birth

prolonged QT interval ( J:193425 )

• exhibit increased QTc (c denotes correction for heart rate) and QTc dispersion at 10 days after birth

cardiomyopathy ( J:179490 )

• severe at 8 weeks of age

muscle

decreased ventricle muscle contractility ( J:179490 )

• at 5 weeks and severe at 8 weeks

cardiomyopathy ( J:179490 )

• severe at 8 weeks of age

cellular

decreased mitochondrial number ( J:179490 )

• myocytes exhibit mitochondrial loss

growth/size/body

increased heart weight ( J:179490 )

• at 5 weeks and severe at 8 weeks

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
sudden infant death syndrome		DOID:9007	OMIM:272120	J:193425