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, Cheyne-Stokes respiration, 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 | |
| Epidermolysis Bullosa With Diaphragmatic Hernia | Neonatal death | OMIM:226735 | |
| Hernia, Anterior Diaphragmatic | Neonatal death | OMIM:306950 | |
| Cardiomyopathy, Dilated, 2H | Neonatal death, Tachypnea, Cardiorespiratory arrest | OMIM:620203 | |
| Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome | Neonatal death, Respiratory insufficiency | OMIM:601612 | |
| Larsen-Like Syndrome, Lethal Type | Tracheomalacia, Neonatal death, Respiratory insufficiency | OMIM:245650 | |
| Neutropenia, Lethal Congenital, With Eosinophilia | Neonatal death | OMIM:257100 | |
| Mitochondrial Complex I Deficiency, Nuclear Type 9 | Neonatal death, Hypoventilation, Breathing dysregulation | OMIM:618232 | |
| Surfactant Metabolism Dysfunction, Pulmonary, 1 | Death in infancy, Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Respiratory failure, ... | OMIM:265120 | |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 | Respiratory distress, Death in infancy, Neonatal respiratory distress, Nonspecific interstitial p... | OMIM:610921 | |
| Developmental And Epileptic Encephalopathy 71 | Respiratory failure, Cheyne-Stokes respiration, 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 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 7 publications which use IMPC produced mice or data.
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.
| 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