Gene Summary
IMPC Data Collections
- Body Weight Measurements
- No Embryo Imaging Data
- Viability Data
The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.
Phenotype | System | Allele | Zyg | Sex | Life Stage | P Value |
---|---|---|---|---|---|---|
preweaning lethality, complete penetrance | Rrp1em1(IMPC)Bay | HOM | Early adult | 0.00 | ||
embryonic lethality prior to organogenesis | Rrp1em1(IMPC)Bay | HOM | E9.5 | 0.00 | ||
decreased body temperature | Rrp1em1(IMPC)Bay | HET | Early adult | 3.93×10-05 |
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 Rrp1 by phenotypic similarity.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Fever, Familial Lifelong Persistent | Fever | OMIM:228400 | |
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 | |
Coenzyme Q10 Deficiency, Primary, 5 | Hypothermia | OMIM:614654 | |
Periodic Fever, Menstrual Cycle-Dependent | Fever | OMIM:614674 | |
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 | |
Menkes Disease | Hypothermia | OMIM:309400 | |
Meningococcal Meningitis | Fever, Hypothermia | ORPHA:33475 | |
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 | |
Malignant Hyperthermia, Susceptibility To, 5 | Fever, Malignant hyperthermia | OMIM:601887 | |
Congenital Enterovirus Infection | Fever, Hypothermia | ORPHA:292 | |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 | Hypothermia | OMIM:618775 | |
Genetic Transient Congenital Hypothyroidism | Hypothermia | ORPHA:226316 | |
Carnitine-Acylcarnitine Translocase Deficiency | Hypothermia | ORPHA:159 | |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency | Hypothermia | ORPHA:26793 | |
Combined Oxidative Phosphorylation Deficiency 37 | Hypothermia | OMIM:618329 | |
3-Hydroxy-3-Methylglutaric Aciduria | Fever, Hypothermia | ORPHA:20 | |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) | Hypothermia | OMIM:251880 | |
Hypothyroidism Due To Tsh Receptor Mutations | Hypothermia | ORPHA:90673 | |
Orthostatic Hypotension 1 | Intermittent hypothermia | OMIM:223360 | |
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 | |
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, 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 | Recurrent fever, Hypothermia, Unexplained fevers | 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 |
---|---|---|
Rrp1tm1(KOMP)Vlcg | Reporter-tagged deletion allele (with selection cassette) | ES Cells |
Rrp1em1(IMPC)Bay | Exon Deletion | Mice |
Rrp1tm1a(EUCOMM)Wtsi | KO first allele (reporter-tagged insertion with conditional potential) | Targeting vectors, ES Cells |
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