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Symbol
Name
ID
Aars1
alanyl-tRNA synthetase 1
MGI:2384560
Phenotype annotations related to muscle
Darker colors indicate more annotations
Human Phenotypes
Foot dorsiflexor weakness
Lower limb muscle weakness
Multiple joint contractures
Hypertonia
Spasticity
Axial hypotonia
Generalized hypotonia
Distal muscle weakness
Skeletal muscle atrophy
Distal lower limb amyotrophy
Disease(s) Associated with AARS1
Charcot-Marie-Tooth disease axonal type 2N
developmental and epileptic encephalopathy 29
trichothiodystrophy

Mouse Phenotypes
abnormal myocardial fiber morphology
abnormal myocardial fiber mitochondrial morphology
myocardial fiber disarray
decreased ventricle muscle contractility
abnormal sarcoplasmic reticulum morphology
Availability Mouse Genotype
Aars1sti/Aars1tm1.1Slac
Aars1sti/Aars1tm1Slac

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
03/19/2024
MGI 6.23
The Jackson Laboratory