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Phenotypes Associated with This Genotype
Genotype
MGI:6477029
Allelic
Composition
Rbm20em1Hide/Rbm20em1Hide
Genetic
Background
involves: C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rbm20em1Hide mutation (0 available); any Rbm20 mutation (5 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• sudden unexpected death is seen in 30% of mice during a 36-week follow-up

cardiovascular system
• hearts show enlarged cardiac chambers at 4 weeks of age which is exacerbated at 12 weeks of age
• hearts show thinning of the ventricular wall at 4 weeks of age which is exacerbated at 12 weeks of age
• cardiac fibrosis is seen at 4 weeks of age and fibrotic left ventricle changes are exacerbated at 12 weeks of age
• ultrasound echocardiography shows a far lower fractional shortening at 12-16 weeks of age than in wild-type mice
• ultrasound echocardiography shows a far lower fractional shortening, larger left ventricular end-diastolic diameter, and thinner end-diastolic left ventricular posterior wall thickness at 12-16 weeks of age
• mice show lower percent fractional shortening, larger left ventricle end-diastolic diameter, and lower end-diastolic left ventricular poster wall thickness at 4 weeks of age, when atrial fibrillation is not observed
• 2 of 3 mice show spontaneous, sustained, and self-terminating ventricular tachycardia and ventricular fibrillation
• during ventricular tachycardia episode, mice suffer syncope
• mice start developing atrial fibrillation at approximately 4 weeks and atrial fibrillation is present in all mice at 10 weeks of age
• 2 of 3 mice show spontaneous, sustained, and self-terminating ventricular tachycardia and ventricular fibrillation
• prolonged PR interval in 4-week old mice
• prolonged P wave duration in 4-week old mice
• prolonged QRS duration in 4-week old mice
• prolonged heart rate-corrected QT interval in 4-week old mice
• smaller R amplitude in 4-week old mice

growth/size/body
• hearts show enlarged cardiac chambers at 4 weeks of age which is exacerbated at 12 weeks of age

muscle
• ultrasound echocardiography shows a far lower fractional shortening at 12-16 weeks of age than in wild-type mice


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
02/23/2021
MGI 6.16
The Jackson Laboratory