Phenotypes associated with this allele

• Allele Symbol: Abcc9⁺
• Allele Name: wild type
• Allele ID: MGI:2438517
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Abcc9^em3Nich/Abcc9^+	B6.Cg-Abcc9^em3Nich	MGI:6825757
ht2	Abcc9^em1(IMPC)H/Abcc9^+	C57BL/6N-Abcc9^em1(IMPC)H/H	MGI:6771931
ht3	Abcc9^em1Nich/Abcc9^+	involves: C57BL/6J * CBA/J	MGI:6389016
cx4	Abcc9^em1Nich/Abcc9^+ Kcnj8^em1Nich/Kcnj8^+	involves: C57BL/6J * CBA/J	MGI:6389026

Genotype
MGI:6825757

ht1

• Allelic Composition: Abcc9^em3Nich/Abcc9⁺
• Genetic Background: B6.Cg-Abcc9^em3Nich

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

cardiovascular system

cardiovascular system phenotype ( J:308986 )

N • slope compliance (reflecting noncontractile biomechanical properties) and blood pressure are not different from controls

dilated aorta ( J:308986 )

• aortic diameter is greater at all pressures

abnormal myocardial fiber morphology ( J:308986 )

• ATP-sensitive potassium [K(ATP)] channel density is much lower in myocytes

enlarged heart ( J:308986 )

• hearts are larger

dilated heart ( J:308986 )

• chamber dilation

abnormal myocardial fiber currents ( J:308986 )

• K(ATP) current is reduced in ventricular myocytes

• however, no elevation of basal K(ATP) conductance in isolated aortic smooth muscle cells is seen

growth/size/body

enlarged heart ( J:308986 )

• hearts are larger

muscle

abnormal myocardial fiber morphology ( J:308986 )

• ATP-sensitive potassium [K(ATP)] channel density is much lower in myocytes

abnormal myocardial fiber currents ( J:308986 )

• K(ATP) current is reduced in ventricular myocytes

• however, no elevation of basal K(ATP) conductance in isolated aortic smooth muscle cells is seen

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hypertrichotic osteochondrodysplasia Cantu type		DOID:0060569	OMIM:239850	J:308986

Genotype
MGI:6771931

ht2

• Allelic Composition: Abcc9^em1(IMPC)H/Abcc9⁺
• Genetic Background: C57BL/6N-Abcc9^em1(IMPC)H/H

Data Sources

IMPC Data for Abcc9

behavior/neurological

increased grip strength ( J:211773 )

♀

IMPC - HAR

hematopoietic system

decreased lymphocyte cell number ( J:211773 )

♂

IMPC - HAR

increased monocyte cell number ( J:211773 )

♂

IMPC - HAR

immune system

decreased lymphocyte cell number ( J:211773 )

♂

IMPC - HAR

increased monocyte cell number ( J:211773 )

♂

IMPC - HAR

Genotype
MGI:6389016

ht3

• 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

cx4

• 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