Gene Summary
IMPC Data Collections
- Body Weight Measurements
- No Embryo Imaging Data
- Viability Data
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 1700016H13Rik by phenotypic similarity.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Bacterial Susceptibility Due To Tlr Signaling Pathway Deficiency | Fever | ORPHA:183713 | |
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency | Fever | ORPHA:319600 | |
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 | |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 | Hypothermia | OMIM:616501 | |
Periodic Fever, Menstrual Cycle-Dependent | Fever | OMIM:614674 | |
Idiopathic Congenital Hypothyroidism | Hypothermia | ORPHA:95717 | |
Coenzyme Q10 Deficiency, Primary, 5 | Hypothermia | OMIM:614654 | |
Sudden Infant Death-Dysgenesis Of The Testes Syndrome | Hypothermia | ORPHA:168593 | |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal | Hypothermia | OMIM:614498 | |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) | Hypothermia | OMIM:245400 | |
Meningococcal Meningitis | Fever, Hypothermia | ORPHA:33475 | |
Menkes Disease | Hypothermia | OMIM:309400 | |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs | Hypothermia | ORPHA:226313 | |
Timothy Syndrome | Hypothermia | OMIM:601005 | |
Familial Thyroid Dyshormonogenesis | Hypothermia | ORPHA:95716 | |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome | Hypothermia | OMIM:608800 | |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities | Fever, Abnormality of temperature regulation, Hypothermia | OMIM:618493 | |
N-Acetylglutamate Synthase Deficiency | Hypothermia | OMIM:237310 | |
Malignant Hyperthermia, Susceptibility To, 5 | Malignant hyperthermia, Fever | OMIM:601887 | |
Congenital Enterovirus Infection | Fever, Hypothermia | ORPHA:292 | |
Sepsis In Premature Infants | Fever, Temperature instability, Hypothermia | ORPHA:90051 | |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 | Hypothermia | OMIM:618775 | |
Carnitine-Acylcarnitine Translocase Deficiency | Hypothermia | ORPHA:159 | |
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 | |
Hypothyroidism Due To Tsh Receptor Mutations | Hypothermia | ORPHA:90673 | |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) | Hypothermia | OMIM:251880 | |
Dopamine Beta-Hydroxylase Deficiency | Hypothermia | ORPHA:230 | |
Aromatic L-Amino Acid Decarboxylase Deficiency | Intermittent hypothermia, Temperature instability | OMIM:608643 | |
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 | |
Mitochondrial Dna-Associated Leigh Syndrome | Fever, Hypothermia | ORPHA:255210 | |
Isolated Thyroid-Stimulating Hormone Deficiency | Hypothermia | ORPHA:90674 | |
Ethylene Glycol Poisoning | Hypothermia | ORPHA:31826 | |
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, Congenital, Nongoitrous, 2 | Hypothermia | OMIM:218700 | |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function | Hypothermia | ORPHA:226307 | |
Occipital Horn Syndrome | Hypothermia | ORPHA:198 | |
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 | Unexplained fevers, Hypothermia, Recurrent fever | ORPHA:642 | |
Sarcoidosis | Fever, Hypothermia | ORPHA:797 | |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome | Hypothermia | ORPHA:438213 |
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MGI Allele | Allele Type | Produced |
---|---|---|
1700016H13Riktm47388(L1L2_Bact_P) | KO first allele (reporter-tagged insertion with conditional potential) | Targeting vectors |
1700016H13Rikem1(IMPC)Bay | Exon Deletion | Mice |
1700016H13Riktm1e(EUCOMM)Wtsi | Targeted, non-conditional allele | ES Cells |
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