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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Lemd2em2Eno
endonuclease-mediated mutation 2, Eric N Olson
MGI:7444807
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
cn1
Lemd2em2Eno/Lemd2em2Eno
Tg(Myh6-cre)2182Mds/0
involves: C3H * C57BL/6 * C57BL/6N * FVB/N MGI:7444863


Genotype
MGI:7444863
cn1
Allelic
Composition
Lemd2em2Eno/Lemd2em2Eno
Tg(Myh6-cre)2182Mds/0
Genetic
Background
involves: C3H * C57BL/6 * C57BL/6N * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lemd2em2Eno mutation (0 available); any Lemd2 mutation (20 available)
Tg(Myh6-cre)2182Mds mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mice show neonatal lethality, with 50% mortality by 2 days of age

growth/size/body
• mice show a reduction in body size immediately after birth

cardiovascular system
• cardiac sections from 5-day-old hearts show 6% of the total nuclei being positive for H2AX phosphorylation, indicating an increase in DNA damage
• cardiomyocytes from P1 hearts exhibit bigger nuclei than controls at both baseline and after compression (subjected to mechanical stress), indicating nuclear instability and alterations in chromatin organization
• cardiac sections from 5-day-old hearts show a decrease in cellular proliferation and an increase in apoptotic cells
• the percentage of apoptotic nuclei is almost the same as the percentage of cells that show DNA damage, suggesting that DNA damage triggers cell death
• dilation of atrial and ventricular chambers
• echocardiography shows a reduction in both ejection fraction and fractional shortening within the first 10 days of life
• mice show systolic dysfunction with severely impaired contraction of the left ventricle
• cardiomyocytes isolated from P1 hearts subjected to mechanical stretching triggers exacerbated DNA damage
• cardiomyocytes fail to adapt to mechanical stress and nuclei show blebs rather than increasing their solidity indicating that nuclear envelope is more susceptible to deformations under mechanical stress

muscle
• cardiomyocytes from P1 hearts exhibit bigger nuclei than controls at both baseline and after compression (subjected to mechanical stress), indicating nuclear instability and alterations in chromatin organization
• dilation of atrial and ventricular chambers





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last database update
12/10/2024
MGI 6.24
The Jackson Laboratory