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Phenotypes Associated with This Genotype
Genotype
MGI:3589459
Allelic
Composition
Lmnatm3Stw/Lmnatm3Stw
Genetic
Background
involves: 129S1/Sv * 129S4/SvJaeSor * C57BL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lmnatm3Stw mutation (0 available); any Lmna mutation (65 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• homozygotes generally die between 12 - 14 weeks of age with none surviving past 16 weeks of age
• in at least 3 homozygotes death resulted from bradyarrhythmia

growth/size/body
• homozygotes display decreased weight gain starting around 4 weeks of age

cardiovascular system
• loss of sarcomere organization is seen in cardiomyocytes and nuclear defects are seen
• degeneration is associated with decreased fiber size, fragmentation, increased granular cytoplasm with loss of striation, and occasional vacuolation
• dilation of the chambers is accompanied by thinning of the chamber walls
• increased cardiac interstitial fibrosis is seen at 9 weeks of age; however, no increase in apoptosis is detected
• increased levels of atrial natriuretic peptide and B-type natriuretic peptide are seen
• progressive decrease in ventricular fractional shortening is seen starting at 8 weeks of age and left ventricular end-diastolic dimension is significantly larger compared to controls when normalized to body weight
• continuous electrocardiographic monitoring revealed periods of extreme bradycardia and excessive diurnal variation in heart rate in 8 week old mutants
• continuous electrocardiographic monitoring revealed a variety of conduction abnormalities including 2 mice with progressive prolongations of the PR interval

behavior/neurological
• just prior to death homozygotes display reduced activity

muscle
• loss of sarcomere organization is seen in cardiomyocytes and nuclear defects are seen
• degeneration is associated with decreased fiber size, fragmentation, increased granular cytoplasm with loss of striation, and occasional vacuolation
• increased levels of atrial natriuretic peptide and B-type natriuretic peptide are seen
• progressive decrease in ventricular fractional shortening is seen starting at 8 weeks of age and left ventricular end-diastolic dimension is significantly larger compared to controls when normalized to body weight
• moderate degeneration of cardiac muscle but only very mild degeneration of skeletal muscle is seen

integument
• just prior to death homozygotes appear slightly disheveled

Mouse Models of Human Disease
OMIM ID Ref(s)
Cardiomyopathy, Dilated, 1A; CMD1A 115200 J:100393


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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
07/19/2016
MGI 6.04
The Jackson Laboratory