|
Symbol Name ID |
Aars1
alanyl-tRNA synthetase 1 MGI:2384560 |
| * | Aspects of the system are reported to show a normal phenotype. |
| Darker colors indicate more annotations |
| Human Phenotypes | Microcephaly |
Blepharospasm |
Absent Achilles reflex |
Photophobia |
Spasticity |
Cerebral dysmyelination |
CNS hypomyelination |
Peripheral axonal neuropathy |
Ventriculomegaly |
Cerebral cortical atrophy |
Partial agenesis of the corpus callosum |
Periventricular leukomalacia |
Cerebral atrophy |
Diffuse cerebellar atrophy |
Gait ataxia |
Chorea |
Intention tremor |
Abnormal pyramidal sign |
Paraplegia/paraparesis |
Decreased motor nerve conduction velocity |
Dysarthria |
Reduced social reciprocity |
Generalized hyperreflexia |
Areflexia |
Hyporeflexia |
Orofacial dyskinesia |
Limb dystonia |
Epileptic encephalopathy |
Global developmental delay |
Peripheral neuropathy |
Generalized-onset seizure |
Myoclonic seizure |
Distal sensory impairment |
| Disease(s) Associated with AARS1 | |||||||||||||||||||||||||||||||||
| Charcot-Marie-Tooth disease axonal type 2N | |||||||||||||||||||||||||||||||||
| developmental and epileptic encephalopathy 29 | |||||||||||||||||||||||||||||||||
| trichothiodystrophy |
| Mouse Phenotypes | nervous system phenotype |
Purkinje cell degeneration |
|
| Availability | Mouse Genotype | ||
| Aars1sti/Aars1sti | * | ||
| Aars1sti/Aars1tm1Slac | |||
| Aars1tm1.1Slac/Aars1+ | |||
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 05/28/2024 MGI 6.13 |
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