Phenotypes associated with this allele

• Allele Symbol: Mrps12^em2.2Afi
• Allele Name: endonuclease-mediated mutation 2.2, Aleksandra Filipovska
• Allele ID: MGI:6842913
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Mrps12^em2.2Afi/Mrps12^em2.2Afi	B6N(Cg)-Mrps12^em2.2Afi	MGI:6842946

Genotype
MGI:6842946

hm1

• Allelic Composition: Mrps12^em2.2Afi/Mrps12^em2.2Afi
• Genetic Background: B6N(Cg)-Mrps12^em2.2Afi

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

cardiovascular system

small heart ( J:284101 )

• in 30-week-old mice

abnormal heart left ventricle size ( J:284101 )

• increased left ventricular end-diastolic diameter and left ventricular end-systolic diameter, and left ventricular posterior wall in diastole, and left ventricular posterior wall in systole in 10 weeks old mice

• increased left ventricular end-diastolic diameter, and reduced left ventricular posterior wall in systole and intraventricular septum in systole in 30-week-old mice

dilated cardiomyopathy ( J:284101 )

• in 30-week-old mice

decreased cardiac muscle contractility ( J:284101 )

• in 10- and 30-week-old mice

cellular

cellular phenotype ( J:284101 )

N • mice exhibit normal mitochondrial respiration

abnormal mitochondrial physiology ( J:284101 )

• decreased oxygen consumption in heart mitochondria from 30-week-old mice

abnormal mitochondrial ATP synthesis coupled electron transport ( J:284101 )

• reduced respiratory chain complexes subunits in 30-week-old mice

abnormal translation ( J:284101 )

• reduced overall mitochondrial translation

homeostasis/metabolism

abnormal translation ( J:284101 )

• reduced overall mitochondrial translation

muscle

dilated cardiomyopathy ( J:284101 )

• in 30-week-old mice

decreased cardiac muscle contractility ( J:284101 )

• in 10- and 30-week-old mice