Registered for phenotyping at IMPC
Phenotyping is planned for a knockout strain of this gene but data is not currently available.
Gene Summary
IMPC Data Collections
- No Body Weight Data
- No Embryo Imaging Data
- No Viability Data
Phenotyping is planned for a knockout strain of this gene but data is not currently available.
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 Ces1c by orthology or direct annotation.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Drug Metabolism, Altered, Ces1-Related | OMIM:618057 |
The table below shows human diseases predicted to be associated to Ces1c by phenotypic similarity.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Primary Erythromelalgia | Hypothermia | ORPHA:90026 | |
Riboflavin Deficiency | Hypothermia | OMIM:615026 | |
2-Methylbutyryl-Coa Dehydrogenase Deficiency | Hypothermia | OMIM:610006 | |
Developmental And Epileptic Encephalopathy 78 | Hypothermia | OMIM:618557 | |
Spontaneous Periodic Hypothermia | Hypothermia | ORPHA:29822 | |
Coenzyme Q10 Deficiency, Primary, 5 | Hypothermia | OMIM:614654 | |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 | Hypothermia | OMIM:616501 | |
Idiopathic Congenital Hypothyroidism | Hypothermia | ORPHA:95717 | |
Sudden Infant Death-Dysgenesis Of The Testes Syndrome | Hypothermia | ORPHA:168593 | |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) | Hypothermia | OMIM:245400 | |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal | Hypothermia | OMIM:614498 | |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs | Hypothermia | ORPHA:226313 | |
Meningococcal Meningitis | Fever, Hypothermia | ORPHA:33475 | |
Menkes Disease | Hypothermia | OMIM:309400 | |
Familial Thyroid Dyshormonogenesis | Hypothermia | ORPHA:95716 | |
Timothy Syndrome | Hypothermia | OMIM:601005 | |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities | Fever, Abnormality of temperature regulation, Hypothermia | OMIM:618493 | |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome | Hypothermia | OMIM:608800 | |
Congenital Enterovirus Infection | Fever, Hypothermia | ORPHA:292 | |
Carnitine-Acylcarnitine Translocase Deficiency | Hypothermia | ORPHA:159 | |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 | Hypothermia | OMIM:618775 | |
Genetic Transient Congenital Hypothyroidism | Hypothermia | ORPHA:226316 | |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency | Hypothermia | ORPHA:26793 | |
3-Hydroxy-3-Methylglutaric Aciduria | Fever, Hypothermia | ORPHA:20 | |
Combined Oxidative Phosphorylation Deficiency 37 | Hypothermia | OMIM:618329 | |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) | Hypothermia | OMIM:251880 | |
Hypothyroidism Due To Tsh Receptor Mutations | Hypothermia | ORPHA:90673 | |
Aromatic L-Amino Acid Decarboxylase Deficiency | Temperature instability, Intermittent hypothermia | OMIM:608643 | |
Dopamine Beta-Hydroxylase Deficiency | Hypothermia | ORPHA:230 | |
Tbck-Related Intellectual Disability Syndrome | Hypothermia | ORPHA:488632 | |
Orthostatic Hypotension 1 | Intermittent hypothermia | OMIM:223360 | |
Adult-Onset Autosomal Dominant Leukodystrophy | Temperature instability, Hypothermia | ORPHA:99027 | |
Alexander Disease | Hypothermia | ORPHA:58 | |
Neuroleptic Malignant Syndrome | Fever, Hypothermia | ORPHA:94093 | |
Ethylene Glycol Poisoning | Hypothermia | ORPHA:31826 | |
Isolated Thyroid-Stimulating Hormone Deficiency | Hypothermia | ORPHA:90674 | |
Mitochondrial Dna-Associated Leigh Syndrome | Fever, Hypothermia | ORPHA:255210 | |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria | Hypothermia | ORPHA:17 | |
Methylmalonic Acidemia With Homocystinuria, Type Cblc | Hypothermia | ORPHA:79282 | |
Menkes Disease | Hypothermia | ORPHA:565 | |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function | Hypothermia | ORPHA:226307 | |
Occipital Horn Syndrome | Hypothermia | ORPHA:198 | |
Hypothyroidism, Congenital, Nongoitrous, 2 | Hypothermia | OMIM:218700 | |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome | Fever, Hypothermia | ORPHA:293987 | |
Marburg Hemorrhagic Fever | Fever, Hypothermia | ORPHA:99826 | |
Hereditary Sensory And Autonomic Neuropathy Type 4 | Recurrent fever, Hypothermia, Unexplained fevers | ORPHA:642 | |
Sarcoidosis | Fever, Hypothermia | ORPHA:797 | |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome | Hypothermia | ORPHA:438213 | |
Drug Metabolism, Altered, Ces1-Related | OMIM:618057 |
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MGI Allele | Allele Type | Produced |
---|---|---|
Ces1ctm1a(KOMP)Wtsi | KO first allele (reporter-tagged insertion with conditional potential) | Targeting vectors, ES Cells |
Ces1cem1(IMPC)Ccpcz | Exon Deletion | Mice, Tissue |
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