Not currently registered for phenotyping at IMPC
Phenotyping is currently not planned for a knockout strain of this gene.
Gene Summary
IMPC Data Collections
- No Body Weight Data
- No Embryo Imaging Data
- No Viability Data
Phenotyping is currently not planned for a knockout strain of this gene.
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 predicted to be associated to Plin3 by phenotypic similarity.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Obesity | Decreased resting energy expenditure | OMIM:601665 | |
Idiopathic Congenital Hypothyroidism | Umbilical hernia, Hypothermia | ORPHA:95717 | |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal | Joint contracture, Inguinal hernia, Hypothermia | OMIM:614498 | |
Primary Erythromelalgia | Hypothermia | ORPHA:90026 | |
Obesity Due To Sim1 Deficiency | Increased resting energy expenditure | ORPHA:369873 | |
Riboflavin Deficiency | Hypothermia | OMIM:615026 | |
Spontaneous Periodic Hypothermia | Hypothermia | ORPHA:29822 | |
Developmental And Epileptic Encephalopathy 78 | Hypothermia | OMIM:618557 | |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs | Umbilical hernia, Hypothermia | ORPHA:226313 | |
2-Methylbutyryl-Coa Dehydrogenase Deficiency | Hypothermia | OMIM:610006 | |
Familial Thyroid Dyshormonogenesis | Umbilical hernia, Hypothermia | ORPHA:95716 | |
Coenzyme Q10 Deficiency, Primary, 5 | Hypothermia | OMIM:614654 | |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) | Hypothermia | OMIM:245400 | |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 | Hypothermia | OMIM:616501 | |
Sudden Infant Death-Dysgenesis Of The Testes Syndrome | Hypothermia | ORPHA:168593 | |
Isolated Thyroid-Stimulating Hormone Deficiency | Hypercholesterolemia, Umbilical hernia, Hypothermia | ORPHA:90674 | |
Menkes Disease | Hypothermia | OMIM:309400 | |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities | Hip contracture, Elbow flexion contracture, Hypothermia | OMIM:618493 | |
Timothy Syndrome | Hypothermia | OMIM:601005 | |
Genetic Transient Congenital Hypothyroidism | Umbilical hernia, Hypothermia | ORPHA:226316 | |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency | Hypothermia, Increased circulating free fatty acid level | ORPHA:26793 | |
Carnitine-Acylcarnitine Translocase Deficiency | Cyanosis, Hypothermia | ORPHA:159 | |
Meningococcal Meningitis | Hypothermia | ORPHA:33475 | |
Hypothyroidism Due To Tsh Receptor Mutations | Umbilical hernia, Hypothermia | ORPHA:90673 | |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome | Hypothermia | OMIM:608800 | |
Congenital Enterovirus Infection | Hypothermia | ORPHA:292 | |
Menkes Disease | Inguinal hernia, Hypothermia, Atypical scarring of skin, Hernia, Umbilical hernia, Chondrocalcinosis | ORPHA:565 | |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome | Corneal scarring, Achilles tendon contracture, Limb joint contracture, Decreased resting energy e... | ORPHA:404454 | |
Adult-Onset Autosomal Dominant Leukodystrophy | Flexion contracture, Hypothermia | ORPHA:99027 | |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria | Flexion contracture, Hypothermia | ORPHA:17 | |
Ethylene Glycol Poisoning | Cyanosis, Hypothermia | ORPHA:31826 | |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 | Hypothermia | OMIM:618775 | |
Combined Oxidative Phosphorylation Deficiency 37 | Hypothermia | OMIM:618329 | |
Occipital Horn Syndrome | Inguinal hernia, Femoral hernia, Scarring, Hypothermia, Hiatus hernia, Atypical scarring of skin,... | ORPHA:198 | |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) | Hypothermia | OMIM:251880 | |
3-Hydroxy-3-Methylglutaric Aciduria | Hypothermia | ORPHA:20 | |
Tbck-Related Intellectual Disability Syndrome | Hypothermia | ORPHA:488632 | |
Mitochondrial Dna-Associated Leigh Syndrome | Abnormality of Krebs cycle metabolism, Hypothermia | ORPHA:255210 | |
Dopamine Beta-Hydroxylase Deficiency | Hypothermia | ORPHA:230 | |
Alexander Disease | Hypothermia | ORPHA:58 | |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome | Hyperlipidemia, Cyanosis, Hypothermia | ORPHA:293987 | |
Hypothyroidism, Congenital, Nongoitrous, 2 | Umbilical hernia, Hypothermia | OMIM:218700 | |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function | Umbilical hernia, Hypothermia | ORPHA:226307 | |
Methylmalonic Acidemia With Homocystinuria, Type Cblc | Hypothermia | ORPHA:79282 | |
Neuroleptic Malignant Syndrome | Hypothermia | ORPHA:94093 | |
Hereditary Sensory And Autonomic Neuropathy Type 4 | Corneal scarring, Fasciitis, Hypothermia, Atypical scarring of skin | ORPHA:642 | |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome | Uterine prolapse, Hypothermia | ORPHA:438213 | |
Sarcoidosis | Scarring, Hypothermia | ORPHA:797 | |
Marburg Hemorrhagic Fever | Hypothermia | ORPHA:99826 |
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MGI Allele | Allele Type | Produced |
---|---|---|
Plin3tm1(KOMP)Vlcg | Reporter-tagged deletion allele (with selection cassette) | ES Cells |
Plin3tm1e(EUCOMM)Hmgu | Targeted, non-conditional allele | ES Cells |
Plin3tm1a(EUCOMM)Hmgu | KO first allele (reporter-tagged insertion with conditional potential) | Targeting vectors, ES Cells |
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