Symbol Name ID |
Aars1
alanyl-tRNA synthetase 1 MGI:2384560 |
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 |
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Availability | Mouse Genotype | |||||
Aars1sti/Aars1tm1.1Slac | ||||||
Aars1sti/Aars1tm1Slac |
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 |
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