Phenotypes Associated with This Genotype

Genotype
MGI:6389024

• Allelic Composition: Abcc9^em1Nich/Abcc9^em1Nich
• Genetic Background: involves: C57BL/6J * CBA/J

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

mortality/aging

decreased survivor rate ( J:281903 )

• minor decrease in survival

premature death ( J:281903 )

• minor decrease in survival

cardiovascular system

enlarged heart ( J:281903 )

• cardiomegaly resulting from cellular hypertrophy

increased heart weight ( J:281903 )

• approximately 1.6-fold increase in heart weight

cardiac hypertrophy ( J:281903 )

dilated heart left ventricle ( J:281903 )

increased cardiac output ( J:281903 )

increased cardiac stroke volume ( J:281903 )

abnormal heart echocardiography feature ( J:281903 )

• echocardiography shows left ventricle dilation, increased cardiac output and stroke volume

• however, fractional shortening is not different

aortic valve regurgitation ( J:281903 )

• 1 of 5 mice show aortic insufficiency

hypotension ( J:281903 )

• basal systolic and diastolic blood pressures are decreased in anesthetized mice

• ambulatory blood pressures are decreased

• the blood-pressure lowering effect of pinacidil is reduced

abnormal vascular smooth muscle physiology ( J:281903 )

• basal K channel activation is increased approximately 2.2-fold in isolated vascular smooth muscle cells

muscle

abnormal vascular smooth muscle physiology ( J:281903 )

• basal K channel activation is increased approximately 2.2-fold in isolated vascular smooth muscle cells

nervous system

abnormal channel response ( J:281903 )

• enhanced basal K(ATP) conductance in vascular smooth muscle

• reduced ATP sensitivity of ventricular myocyte K(ATP) channels

growth/size/body

enlarged heart ( J:281903 )

• cardiomegaly resulting from cellular hypertrophy

increased heart weight ( J:281903 )

• approximately 1.6-fold increase in heart weight

cardiac hypertrophy ( J:281903 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hypertrichotic osteochondrodysplasia Cantu type		DOID:0060569	OMIM:239850	J:281903