|
Symbol Name ID |
Eprs1
glutamyl-prolyl-tRNA synthetase 1 MGI:97838 |
| Darker colors indicate more annotations |
| Human Phenotypes | Microcephaly |
Dysphagia |
Spasticity |
CNS hypomyelination |
Leukodystrophy |
Hypoplasia of the corpus callosum |
Cerebral atrophy |
Cerebellar atrophy |
Ataxia |
Athetosis |
Intention tremor |
Abnormal pyramidal sign |
Dysarthria |
Prosopagnosia |
Dystonia |
Loss of ambulation |
Developmental regression |
Cognitive regression |
Motor regression |
Global developmental delay |
Motor delay |
Seizure |
| Disease(s) Associated with EPRS1 | ||||||||||||||||||||||
| hypomyelinating leukodystrophy 15 |
| Mouse Phenotypes | decreased prepulse inhibition |
|
| Availability | Mouse Genotype | |
| Eprs1tm1b(EUCOMM)Hmgu/Eprs1+ | ||
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
||
|
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support. |
last database update 04/23/2024 MGI 6.23 |
|
|
|
||
Analysis Tools