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Symbol Name ID |
Fars2
phenylalanine-tRNA synthetase 2, mitochondrial MGI:1917205 |
| Darker colors indicate more annotations |
| Human Phenotypes | Microcephaly |
Increased CSF lactate |
Neuromuscular dysphagia |
Lower limb spasticity |
Spastic paraplegia |
Progressive spastic paraplegia |
Scissor gait |
Gliosis |
Basal ganglia gliosis |
Atrophy/Degeneration affecting the brainstem |
Ventriculomegaly |
Cerebral cortical atrophy |
Cerebral atrophy |
Diffuse cerebral atrophy |
Cerebellar atrophy |
Bradykinesia |
Myoclonus |
Intention tremor |
Babinski sign |
Weakness due to upper motor neuron dysfunction |
EEG abnormality |
Absent speech |
Dysarthria |
Insomnia |
Lower limb hyperreflexia |
Dystonia |
Paroxysmal dystonia |
Loss of ambulation |
Elevated brain lactate level by MRS |
Elevated brain N-acetyl aspartate level by MRS |
Developmental regression |
Global developmental delay |
Profound global developmental delay |
Seizure |
Myoclonic seizure |
| Disease(s) Associated with FARS2 | |||||||||||||||||||||||||||||||||||
| combined oxidative phosphorylation deficiency 14 | |||||||||||||||||||||||||||||||||||
| hereditary spastic paraplegia 77 |
| Mouse Phenotypes | decreased brain weight |
enlarged brain ventricles |
abnormal cerebral cortex morphology |
loss of cortex neurons |
thin cerebral cortex |
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| Availability | Mouse Genotype | |||||
| Fars2em3Chenk/Fars2em3Chenk Tg(Nes-cre)1Kln/0 (conditional) |
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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 05/07/2024 MGI 6.23 |
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