Gene: Gls MGI:95752
Log in to followHuman diseases caused by Gls mutations
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 failure, Respiratory insufficiency | 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 | Neonatal death, Respiratory insufficiency | OMIM:611369 | |
Pulmonary Hypoplasia, Primary | Neonatal death | OMIM:265430 | |
Mitochondrial Complex I Deficiency, Nuclear Type 30 | Respiratory failure, Neonatal death | OMIM:301021 | |
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 | Neonatal death, Respiratory insufficiency | OMIM:601612 | |
Larsen-Like Syndrome, Lethal Type | Neonatal death, Tracheomalacia, Respiratory insufficiency | OMIM:245650 | |
Neutropenia, Lethal Congenital, With Eosinophilia | Neonatal death | OMIM:257100 | |
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities | Respiratory failure, Neonatal death, Respiratory insufficiency | OMIM:228940 | |
Developmental And Epileptic Encephalopathy 71 | Respiratory failure, Respiratory insufficiency | OMIM:618328 | |
Arthrogryposis Multiplex Congenita 6 | Respiratory failure, Neonatal death, Death in infancy, Death in childhood | OMIM:619334 | |
Surfactant Metabolism Dysfunction, Pulmonary, 1 | Neonatal respiratory distress, Death in infancy, Tachypnea, Neonatal death, Pulmonary arterial hy... | OMIM:265120 | |
Surfactant Metabolism Dysfunction, Pulmonary, 3 | Hypoxemia, Neonatal respiratory distress, Death in infancy, Nonspecific interstitial pneumonia, T... | OMIM:610921 | |
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development | OMIM:618339 | ||
Global Developmental Delay, Progressive Ataxia, And Elevated Glutamine | OMIM:618412 |
IMPC related publications
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 3 publications which use IMPC produced mice or data.
Title | Journal | IMPC Allele | PubMed ID |
---|---|---|---|
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 |
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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 |
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