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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Abcc9em1Nich
endonuclease-mediated mutation 1, Colin G Nichols
MGI:6389010
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Abcc9em1Nich/Abcc9em1Nich involves: C57BL/6J * CBA/J MGI:6389024
ht2
Abcc9em1Nich/Abcc9+ involves: C57BL/6J * CBA/J MGI:6389016
cx3
Abcc9em1Nich/Abcc9+
Kcnj8em1Nich/Kcnj8+
involves: C57BL/6J * CBA/J MGI:6389026


Genotype
MGI:6389024
hm1
Allelic
Composition
Abcc9em1Nich/Abcc9em1Nich
Genetic
Background
involves: C57BL/6J * CBA/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Abcc9em1Nich mutation (0 available); any Abcc9 mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body
• cardiomegaly resulting from cellular hypertrophy
• approximately 1.6-fold increase in heart weight

mortality/aging
• minor decrease in survival
• minor decrease in survival

cardiovascular system
• cardiomegaly resulting from cellular hypertrophy
• approximately 1.6-fold increase in heart weight
• echocardiography shows left ventricle dilation, increased cardiac output and stroke volume
• however, fractional shortening is not different
• 1 of 5 mice show aortic insufficiency
• 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
• basal K channel activation is increased approximately 2.2-fold in isolated vascular smooth muscle cells

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

nervous system
• enhanced basal K(ATP) conductance in vascular smooth muscle
• reduced ATP sensitivity of ventricular myocyte K(ATP) channels

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
Abcc9em1Nich/Abcc9+
Genetic
Background
involves: C57BL/6J * CBA/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Abcc9em1Nich mutation (0 available); any Abcc9 mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body
• approximately 1.2-fold increase in heart weight

mortality/aging
• minor decrease in survival
• minor decrease in survival

cardiovascular system
• descending thoracic aortae show dilation
• approximately 1.2-fold increase in heart weight
• echocardiography shows left ventricle dilation, and increased cardiac output and stroke volume
• however, fractional shortening is not different
• basal systolic and diastolic blood pressures are decreased in anesthetized mice
• the blood-pressure lowering effect of pinacidil is reduced
• reduction in vessel contractility
• passive vessel compliance is increased
• basal K channel activation is increased approximately 1.5-fold in isolated vascular smooth muscle cell
• carotid arterial diameters across a full range of physiological pressures are increased, indicating dilated, compliant arterial vessels

muscle
• basal K channel activation is increased approximately 1.5-fold in isolated vascular smooth muscle cell
• carotid arterial diameters across a full range of physiological pressures are increased, indicating dilated, compliant arterial vessels

nervous system
• enhanced basal K(ATP) conductance in vascular smooth muscle
• reduced ATP sensitivity of ventricular myocyte K(ATP) channels

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
Abcc9em1Nich/Abcc9+
Kcnj8em1Nich/Kcnj8+
Genetic
Background
involves: C57BL/6J * CBA/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Abcc9em1Nich mutation (0 available); any Abcc9 mutation (4 available)
Kcnj8em1Nich mutation (0 available); any Kcnj8 mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mortality is increased compared to single homozygotes, with death shortly after weaning





Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
04/06/2021
MGI 6.16
The Jackson Laboratory