Phenotypes associated with this allele

• Allele Symbol: Nexn^em1Chen
• Allele Name: endonuclease-mediated mutation 1, Ju Chen
• Allele ID: MGI:6510879
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Nexn^em1Chen/Nexn^em1Chen	C57BL/6J-Nexn^em1Chen	MGI:6511077

Genotype
MGI:6511077

hm1

• Allelic Composition: Nexn^em1Chen/Nexn^em1Chen
• Genetic Background: C57BL/6J-Nexn^em1Chen

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

mortality/aging

preweaning lethality, incomplete penetrance ( J:301807 )

• approximately 20% of mice exhibit preweaning mortality

cardiovascular system

abnormal myocardial fiber morphology ( J:301807 )

• P10 cardiomyocytes show disorganization of the entire transverse-axial tubule system, with the T-tubule component decreased and the longitudinal component increased

• mice have a higher number of cardiomyocytes missing the transverse component of transverse-axial tubule system, suggesting delayed T-tubule network formation

increased heart left ventricle size ( J:301807 )

• hearts show slightly enlarged left ventricle at P10

dilated cardiomyopathy ( J:301807 )

• mice exhibit progressive dilated cardiomyopathy

• hearts show a progressive chamber dilation that is visible at 3 months of age

decreased cardiac muscle contractility ( J:301807 )

• hearts show reduced percentage of fractional shortening at P10 and 3 months of age

abnormal heart echocardiography feature ( J:301807 )

• echocardiography shows increased left ventricular dimensions and reduced cardiac function at P10 and 3 months of age

• however, no alterations in thickness of left ventricular posterior wall end diastole, calculated ratio of left ventricular mass to body weight, or thickness of interventricular septal end diastole are seen

muscle

abnormal myocardial fiber morphology ( J:301807 )

• P10 cardiomyocytes show disorganization of the entire transverse-axial tubule system, with the T-tubule component decreased and the longitudinal component increased

• mice have a higher number of cardiomyocytes missing the transverse component of transverse-axial tubule system, suggesting delayed T-tubule network formation

dilated cardiomyopathy ( J:301807 )

• mice exhibit progressive dilated cardiomyopathy

• hearts show a progressive chamber dilation that is visible at 3 months of age

decreased cardiac muscle contractility ( J:301807 )

• hearts show reduced percentage of fractional shortening at P10 and 3 months of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
dilated cardiomyopathy 1CC		DOID:0110424	OMIM:613122	J:301807