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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Rbm20em2Hgra
endonuclease-mediated mutation 2, Henk Granzier
MGI:7276163
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Rbm20em2Hgra/Rbm20em2Hgra C57BL/6J-Rbm20em2Hgra MGI:7276176
ht2
Rbm20em2Hgra/Rbm20+ C57BL/6J-Rbm20em2Hgra MGI:7276177


Genotype
MGI:7276176
hm1
Allelic
Composition
Rbm20em2Hgra/Rbm20em2Hgra
Genetic
Background
C57BL/6J-Rbm20em2Hgra
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rbm20em2Hgra mutation (0 available); any Rbm20 mutation (51 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• about 34% of mice die in the first 100 days after birth

cardiovascular system
• isolated hearts are flabby, flimsy and flatten under their own weight
• left ventricular walls are thinner in males, but not females
• left ventricle chamber is enlarged in males, but not females
• mice exhibit a dilated cardiomyopathy-like phenotype at 8 weeks of age with reduced ejection fraction and enlarged left ventricle chamber
• however, no fibrosis is seen at 8 weeks of age
• echocardiography shows reduced ejection fraction and an enlarged left ventricle chamber in both diastole and systole
• males show decreased aorta ejection time, ventricular wall thickness, velocity time integral and pulmonary artery ejection time
• the tricuspid annular plane systolic excursion depth is reduced

muscle
• mice exhibit a dilated cardiomyopathy-like phenotype at 8 weeks of age with reduced ejection fraction and enlarged left ventricle chamber
• however, no fibrosis is seen at 8 weeks of age




Genotype
MGI:7276177
ht2
Allelic
Composition
Rbm20em2Hgra/Rbm20+
Genetic
Background
C57BL/6J-Rbm20em2Hgra
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rbm20em2Hgra mutation (0 available); any Rbm20 mutation (51 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cardiovascular system
• isolated hearts are flabby, flimsy and flatten under their own weight
• left ventricular walls are thinner in males, but not females
• echocardiography shows reduced ejection fraction and an enlarged left ventricle chamber in both diastole and systole





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