Version: 8.0.0Date: Tue Jan 28 2025
Gene
Gars1
- Species
- Mus musculus
- Symbol
- Gars1
- Name
- glycyl-tRNA synthetase 1
- Synonyms
- Gars
- Gena201
- Biotype
- protein coding gene
- Automated Description
- Enables glycine-tRNA ligase activity. Acts upstream of or within glycyl-tRNA aminoacylation. Located in extracellular exosome and secretory granule. Is expressed in several structures, including alimentary system; cardiovascular system; nervous system; respiratory system; and urinary system. Used to study Charcot-Marie-Tooth disease type 2D. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease type 2D and autosomal dominant distal hereditary motor neuronopathy 5. Orthologous to human GARS1 (glycyl-tRNA synthetase 1).
- MGI Description
- PHENOTYPE: A dominant mutation results in sensory and motor axon degeneration in affected mice, with defects in synaptic transmission, nerve conduction and premature death. A loss of function mutation results in embryonic lethality in homozygous mice, and no discernible phenotype in heterozygous mice. [provided by MGI curators]
- Cross References
- Additional Information
- Literature
Orthology
- Gene tree
- PANTHER:PTHR10745
Links to orthology data in JBrowse by filter level: Stringent, Moderate, No filter, Best and Best Reverse
Phenotypes
- Primary Sources
- Other Sources
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Disease Associations
Cases where the expected disease association was NOT found
Cell color indicative of annotation volume
No data available
Alleles and Variants
Allele/Variant Symbol | Allele Synonyms | Category | Variant | Variant type | Molecular consequence | Has Disease Annotations | Has Phenotype Annotations |
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Transgenic Alleles
Species (carrying the transgene) | Allele symbol | Transgenic construct | Expressed components | Knock-down targets | Regulatory regions | Has Disease Annotations | Has Phenotype Annotations |
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Models
Model name | Experimental condition | Associated Human Diseases | Associated Phenotypes | Modifier | Source |
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Sequence Feature Viewer
- Genome location
- Chr6:55014992...55056485 + (41.49 kb)
- Assembly version
- GRCm39
- Viewer Help
Data currently unavailable; sequence viewer under construction
Expression
- Primary Sources
- Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.