Phenotypes associated with this allele

• Allele Symbol: Abcc9^em3Nich
• Allele Name: endonuclease-mediated mutation 3, Colin G Nichols
• Allele ID: MGI:6822330
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Abcc9^em3Nich/Abcc9^em3Nich	B6.Cg-Abcc9^em3Nich	MGI:6825756
ht2	Abcc9^em3Nich/Abcc9^+	B6.Cg-Abcc9^em3Nich	MGI:6825757
cx3	Abcc8^tm1.1Mgn/Abcc8^tm1.1Mgn Abcc9^em3Nich/Abcc9^em3Nich	involves: 129X1/SvJ * C57BL/6J * CBA/J	MGI:6825758

Genotype
MGI:6825756

hm1

• Allelic Composition: Abcc9^em3Nich/Abcc9^em3Nich
• 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

abnormal aorta smooth muscle morphology ( J:308986 )

• ATP-sensitive potassium [K(ATP)] channel density is reduced in aortic smooth muscle

dilated aorta ( J:308986 )

• aortic diameter is greater at all pressures, similarly to that seen in heterozygotes

abnormal myocardial fiber morphology ( J:308986 )

• K(ATP) channel density is dramatically lower in myocytes

enlarged heart ( J:308986 )

• hearts are larger but not obviously more so than in heterozygotes

dilated heart ( J:308986 )

• chamber dilation

abnormal impulse conducting system conduction ( J:308986 )

• lower basal K(ATP) conductance in isolated aortic smooth muscle cells

abnormal myocardial fiber currents ( J:308986 )

• K(ATP) current is reduced in ventricular myocytes to a greater extent than in heterozygotes

growth/size/body

enlarged heart ( J:308986 )

• hearts are larger but not obviously more so than in heterozygotes

homeostasis/metabolism

abnormal physiological response to xenobiotic ( J:308986 )

• pinacidil-mediated activation is essentially absent in cardiomyocytes, while relative diazoxide-mediated activation is enhanced indicating that pharmacological sensitivity of myocardial fibers is switched

• pinacidil has almost no effect on lowering blood pressure as it does in controls and heterozygous mice

muscle

abnormal aorta smooth muscle morphology ( J:308986 )

• ATP-sensitive potassium [K(ATP)] channel density is reduced in aortic smooth muscle

abnormal myocardial fiber morphology ( J:308986 )

• K(ATP) channel density is dramatically lower in myocytes

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

Genotype
MGI:6825757

ht2

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

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

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

Genotype
MGI:6825758

cx3

• Allelic Composition: Abcc8^tm1.1Mgn/Abcc8^tm1.1Mgn; Abcc9^em3Nich/Abcc9^em3Nich
• Genetic Background: involves: 129X1/SvJ * C57BL/6J * CBA/J

cardiovascular system

abnormal myocardial fiber currents ( J:308986 )

• no ATP-sensitive potassium [K(ATP)] current is detected in ventricular myocytes