The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.
Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.
The table below shows human diseases associated to Gls by orthology or direct annotation.
| Disease | Similarity of phenotypes |
Matching phenotypes | Source |
|---|---|---|---|
| Developmental And Epileptic Encephalopathy 71 | Respiratory insufficiency, Respiratory failure, Cheyne-Stokes respiration | OMIM:618328 | |
| Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development | OMIM:618339 | ||
| Global Developmental Delay, Progressive Ataxia, And Elevated Glutamine | OMIM:618412 |
The table below shows human diseases predicted to be associated to Gls by phenotypic similarity.
| Disease | Similarity of phenotypes |
Matching phenotypes | Source |
|---|---|---|---|
| Granulomas, Congenital Cerebral | Neonatal death | OMIM:306300 | |
| Genitourinary Tract Anomalies | Neonatal death | OMIM:305690 | |
| Lethal Congenital Contracture Syndrome 3 | Respiratory insufficiency, Neonatal death | OMIM:611369 | |
| Pulmonary Hypoplasia, Primary | Neonatal death | OMIM:265430 | |
| Epidermolysis Bullosa With Diaphragmatic Hernia | Neonatal death | OMIM:226735 | |
| Hernia, Anterior Diaphragmatic | Neonatal death | OMIM:306950 | |
| Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome | Respiratory insufficiency, Neonatal death | OMIM:601612 | |
| Larsen-Like Syndrome, Lethal Type | Respiratory insufficiency, Tracheomalacia, Neonatal death | OMIM:245650 | |
| Neutropenia, Lethal Congenital, With Eosinophilia | Neonatal death | OMIM:257100 | |
| Surfactant Metabolism Dysfunction, Pulmonary, 1 | Pulmonary arterial hypertension, Death in infancy, Apnea, Dyspnea, Respiratory failure, Neonatal ... | OMIM:265120 | |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 | Respiratory failure, Exertional dyspnea, Death in infancy, Hypoxemia, Respiratory distress, Apnea... | OMIM:610921 | |
| Developmental And Epileptic Encephalopathy 71 | Respiratory insufficiency, Respiratory failure, Cheyne-Stokes respiration | OMIM:618328 | |
| Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development | OMIM:618339 | ||
| Global Developmental Delay, Progressive Ataxia, And Elevated Glutamine | OMIM:618412 |
The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Gls.
There are 5 publications which use IMPC produced mice or data.
| Title | Journal | IMPC Allele | PubMed ID |
|---|---|---|---|
| GLS2 Is a Tumor Suppressor and a Regulator of Ferroptosis in Hepatocellular Carcinoma. | Cancer research (September 2022) | Gls2tm1a(EUCOMM)Wtsi | 35895807 |
| Glutaminase inhibition impairs CD8 T cell activation in STK11-/Lkb1-deficient lung cancer. | Cell metabolism (May 2022) | Glstm1a(KOMP)Mbp | 35504291 |
| Microglial glutaminase 1 deficiency mitigates neuroinflammation associated depression. | Brain, behavior, and immunity (October 2021) | Glstm1c(KOMP)Mbp Glstm1a(KOMP)Mbp | 34678461 |
| Distinct Regulation of Th17 and Th1 Cell Differentiation by Glutaminase-Dependent Metabolism. | Cell (November 2018) | Glstm1c(KOMP)Mbp Glstm1a(KOMP)Mbp | 30392958 |
| TNF-α promotes extracellular vesicle release in mouse astrocytes through glutaminase. | Journal of neuroinflammation (April 2017) | Glstm1a(KOMP)Mbp | PMC5399318 |
All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.
This service may be affected by the Covid-19 pandemic. See how
| MGI Allele | Allele Type | Produced |
|---|---|---|
| Glstm1a(KOMP)Mbp | KO first allele (reporter-tagged insertion with conditional potential) | Targeting vectors, ES Cells |
| Glstm1e(KOMP)Mbp | Targeted, non-conditional allele | ES Cells |
| Glsem1(IMPC)H | Exon Deletion | Mice |
Get highlights of the most important data releases, news and events, delivered straight to your email inbox
Subscribe to newsletter