Phenotypes associated with this allele

• Allele Symbol: Aars1^tm1Slac
• Allele Name: targeted mutation 1, Susan L Ackerman
• Allele ID: MGI:5614438
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Aars1^sti/Aars1^tm1Slac	involves: C57BL/6J	MGI:5614645

Genotype
MGI:5614645

ht1

• Allelic Composition: Aars1^sti/Aars1^tm1Slac
• Genetic Background: involves: C57BL/6J

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

homeostasis/metabolism

abnormal autophagy ( J:216802 )

cardiovascular system

abnormal myocardial fiber morphology ( J:216802 )

• ubiquitin puncta are present in about 2.4% of cardiomyocytes

• cardiomyocytes exhibit deposition of protein aggregates that disrupt myofibrillar structure and these protein aggregates occur in prefibrotic hearts

• large vacuoles and a reduction in fiber diameter are often seen in ubiquitin aggregate-containing cardiomyocytes

• mitochondria and sarcoplasmic reticulum are abnormal in cardiomyocytes

abnormal myocardial fiber mitochondrial morphology ( J:216802 )

• abnormal mitochondria in cardiomyocytes

myocardial fiber disarray ( J:216802 )

• myofiber disarray in the ventricular myocardium of hearts

small heart ( J:216802 )

• heart is smaller than in single homozygous Aars^sti mice

decreased heart left ventricle posterior wall thickness ( J:216802 )

• hearts exhibit a slight, but significant, reduction in the thickness of the left ventricular posterior wall

cardiac fibrosis ( J:216802 )

• extensive cardiac fibrosis is seen at 4 and 10 months of age

• interstitial and perivascular fibrosis in the left and right ventricular walls and in the interventricular septum

cardiac interstitial fibrosis ( J:216802 )

• in the left and right ventricular walls and in the interventricular septum

abnormal cardiovascular system physiology ( J:216802 )

• less systolic thickening of the left ventricle, indicating myocardial dysfunction

decreased cardiac output ( J:216802 )

• ventricular output, as measured by the ejection fraction and fractional shortening of the left ventricle, are reduced

decreased heart left ventricle muscle contractility ( J:216802 )

• ejection fraction and fractional shortening of the left ventricle are reduced

• however, ventricular arrhythmias are not seen

abnormal myocardial fiber physiology ( J:216802 )

• cardiomyocytes exhibit multilamellar bodies indicative of impaired lysosomal degradation

cellular

abnormal myocardial fiber mitochondrial morphology ( J:216802 )

• abnormal mitochondria in cardiomyocytes

cardiac interstitial fibrosis ( J:216802 )

• in the left and right ventricular walls and in the interventricular septum

abnormal autophagy ( J:216802 )

growth/size/body

decreased body size ( J:216802 )

decreased body weight ( J:216802 )

• decreased body weight at P21 but not P14

integument

alopecia ( J:216802 )

• dorsal alopecia

muscle

abnormal myocardial fiber morphology ( J:216802 )

• ubiquitin puncta are present in about 2.4% of cardiomyocytes

• cardiomyocytes exhibit deposition of protein aggregates that disrupt myofibrillar structure and these protein aggregates occur in prefibrotic hearts

• large vacuoles and a reduction in fiber diameter are often seen in ubiquitin aggregate-containing cardiomyocytes

• mitochondria and sarcoplasmic reticulum are abnormal in cardiomyocytes

abnormal myocardial fiber mitochondrial morphology ( J:216802 )

• abnormal mitochondria in cardiomyocytes

myocardial fiber disarray ( J:216802 )

• myofiber disarray in the ventricular myocardium of hearts

decreased heart left ventricle muscle contractility ( J:216802 )

• ejection fraction and fractional shortening of the left ventricle are reduced

• however, ventricular arrhythmias are not seen

abnormal sarcoplasmic reticulum morphology ( J:216802 )

• disruption of the sarcoplasmic reticulum in cardiomyocytes

nervous system

Purkinje cell degeneration ( J:216802 )