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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Nebltm1.1Epu
targeted mutation 1.1, Enkhsaikhan Purevjav
MGI:6711840
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Nebltm1.1Epu/Nebltm1.1Epu involves: 129S/SvEv * C57BL/6 MGI:6712288


Genotype
MGI:6712288
hm1
Allelic
Composition
Nebltm1.1Epu/Nebltm1.1Epu
Genetic
Background
involves: 129S/SvEv * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nebltm1.1Epu mutation (0 available); any Nebl mutation (67 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• cardiomyocytes from sedentary mice exhibit focally disrupted intercalated disks and mildly widened cell-cell contacts compared with wild-type mice
• following chronic exercise, mice exhibit diffusely disturbed sarcomere archeology with substantially lower density of crosslinked F-actin fibers and smeared Z-I-A-M bands as well as disrupted intercalated disks, loss of cell-cell contacts, damaged mitochondria forming large necrotic clusters and lysosomal inclusions compare with wild-type mice
• in exercised mice
• in exercised mice
• mild in exercised mice
• impaired left ventricle relaxation with aging
• in 24 week old mice with increase in E/A ratio of mitral valve movement due to decreased A-wave amplitude in the left atrium size and abnormal interventricular septum longitudinal strain rate
• however, systolic function is normal
• premature ventricular contractions and bradycardia in exercised mice
• exercised mice exhibit an increase in end-diastolic left ventricle volume, increased left ventricle mass, thickened interventricular septum at end-systole and end-diastole, increased heart weight, increased cardiomyocyte surface area, premature ventricular contractions, and bradycardia compared with wild-type mice
• following chronic exercise, mice exhibit diffusely disturbed sarcomere archeology compare with wild-type mice
• however, exercised mice do not exhibit fibrosis or infiltration in the heart

behavior/neurological
• during acute stress running on a treadmill, 12-week old mice run shorter distances and shorter time before reaching exhaustion compared with wild-type mice

growth/size/body
• mild in exercised mice

homeostasis/metabolism
• during acute stress running on a treadmill, 12-week old mice run shorter distances and shorter time before reaching exhaustion compared with wild-type mice
• exercised mice exhibit an increase in end-diastolic left ventricle volume, increased left ventricle mass, thickened interventricular septum at end-systole and end-diastole, increased heart weight, increased cardiomyocyte surface area, premature ventricular contractions, and bradycardia compared with wild-type mice
• following chronic exercise, mice exhibit diffusely disturbed sarcomere archeology compare with wild-type mice
• however, exercised mice do not exhibit fibrosis or infiltration in the heart

muscle
• cardiomyocytes from sedentary mice exhibit focally disrupted intercalated disks and mildly widened cell-cell contacts compared with wild-type mice
• following chronic exercise, mice exhibit diffusely disturbed sarcomere archeology with substantially lower density of crosslinked F-actin fibers and smeared Z-I-A-M bands as well as disrupted intercalated disks, loss of cell-cell contacts, damaged mitochondria forming large necrotic clusters and lysosomal inclusions compare with wild-type mice
• in exercised mice
• impaired left ventricle relaxation with aging
• cardiomyocytes from sedentary mice exhibit focally disrupted intercalated disks and mildly widened cell-cell contacts compared with wild-type mice
• following chronic exercise, mice exhibit diffusely disturbed sarcomere archeology with substantially lower density of crosslinked F-actin fibers and smeared Z-I-A-M bands as well as disrupted intercalated disks, loss of cell-cell contacts, damaged mitochondria forming large necrotic clusters and lysosomal inclusions compare with wild-type mice





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last database update
05/07/2024
MGI 6.23
The Jackson Laboratory