Phenotypes associated with this allele

• Allele Symbol: Abcc9^em1Nich
• Allele Name: endonuclease-mediated mutation 1, Colin G Nichols
• Allele ID: MGI:6389010
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Abcc9^em1Nich/Abcc9^em1Nich	involves: C57BL/6J * CBA/J	MGI:6389024
ht2	Abcc9^em1Nich/Abcc9^+	involves: C57BL/6J * CBA/J	MGI:6389016
cx3	Abcc9^em1Nich/Abcc9^+ Kcnj8^em1Nich/Kcnj8^+	involves: C57BL/6J * CBA/J	MGI:6389026

Genotype
MGI:6389024

hm1

• 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

Genotype
MGI:6389016

ht2

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

mortality/aging

decreased survivor rate ( J:281903 )

• minor decrease in survival

premature death ( J:281903 )

• minor decrease in survival

cardiovascular system

abnormal thoracic aorta morphology ( J:281903 )

• descending thoracic aortae show dilation

aortic arch dilation ( J:281903 )

enlarged heart ( J:281903 )

increased heart weight ( J:281903 )

• approximately 1.2-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, and increased cardiac output and stroke volume

• however, fractional shortening is not different

hypotension ( J:281903 )

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

• the blood-pressure lowering effect of pinacidil is reduced

abnormal blood vessel physiology ( J:281903 )

• reduction in vessel contractility

• passive vessel compliance is increased

abnormal vascular smooth muscle physiology ( J:281903 )

• basal K channel activation is increased approximately 1.5-fold in isolated vascular smooth muscle cell

increased vasodilation ( J:281903 )

• carotid arterial diameters across a full range of physiological pressures are increased, indicating dilated, compliant arterial vessels

muscle

abnormal vascular smooth muscle physiology ( J:281903 )

• basal K channel activation is increased approximately 1.5-fold in isolated vascular smooth muscle cell

increased vasodilation ( J:281903 )

• carotid arterial diameters across a full range of physiological pressures are increased, indicating dilated, compliant arterial vessels

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 )

increased heart weight ( J:281903 )

• approximately 1.2-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

Genotype
MGI:6389026

cx3

• Allelic Composition: Abcc9^em1Nich/Abcc9⁺; Kcnj8^em1Nich/Kcnj8⁺
• Genetic Background: involves: C57BL/6J * CBA/J

mortality/aging

premature death ( J:281903 )

• mortality is increased compared to single homozygotes, with death shortly after weaning