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 Pth2r by phenotypic similarity.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Ethanolaminosis | Cardiomegaly | OMIM:227150 | |
Spontaneous Periodic Hypothermia | Gait disturbance, Ataxia, Hypothermia | ORPHA:29822 | |
Developmental And Epileptic Encephalopathy 78 | Inability to walk, Hypothermia | OMIM:618557 | |
Cardiomyopathy, Dilated, 1I | Dilated cardiomyopathy, Cardiomegaly | OMIM:604765 | |
Primary Erythromelalgia | Hypothermia | ORPHA:90026 | |
Riboflavin Deficiency | Hypothermia | OMIM:615026 | |
2-Methylbutyryl-Coa Dehydrogenase Deficiency | Hypothermia | OMIM:610006 | |
Coenzyme Q10 Deficiency, Primary, 5 | Hypothermia | OMIM:614654 | |
Idiopathic Congenital Hypothyroidism | Hypothermia | ORPHA:95717 | |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities | Fever, Abnormality of temperature regulation, Hypothermia, Inability to walk, Unsteady gait | OMIM:618493 | |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 | Hypothermia | OMIM:616501 | |
Meningococcal Meningitis | Fever, Irritability, Hypothermia | ORPHA:33475 | |
Aromatic L-Amino Acid Decarboxylase Deficiency | Intermittent hypothermia, Choreoathetosis, Irritability, Athetosis, Emotional lability, Temperatu... | OMIM:608643 | |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome | Cardiomegaly | ORPHA:88643 | |
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 Enterovirus Infection | Fever, Irritability, Hypothermia | ORPHA:292 | |
Cardiomyopathy, Familial Hypertrophic, 27 | Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... | OMIM:618052 | |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs | Hypothermia | ORPHA:226313 | |
Menkes Disease | Hypothermia | OMIM:309400 | |
Familial Thyroid Dyshormonogenesis | Hypothermia | ORPHA:95716 | |
Adult-Onset Autosomal Dominant Leukodystrophy | Ataxia, Hypothermia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Gait disturbance, Temperature in... | ORPHA:99027 | |
Alexander Disease | Ataxia, Hypothermia, Depression, Gait disturbance, Emotional lability | ORPHA:58 | |
Timothy Syndrome | Hypothermia | OMIM:601005 | |
Carnitine-Acylcarnitine Translocase Deficiency | Irritability, Hypothermia | ORPHA:159 | |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome | Hypothermia | OMIM:608800 | |
Ethylene Glycol Poisoning | Ataxia, Hypothermia, Euphoria | ORPHA:31826 | |
3-Hydroxy-3-Methylglutaric Aciduria | Fever, Ataxia, Hypothermia | ORPHA:20 | |
Tbck-Related Intellectual Disability Syndrome | Inability to walk, Hypothermia | ORPHA:488632 | |
Mitochondrial Dna-Associated Leigh Syndrome | Fever, Ataxia, Hypothermia, Gait ataxia | ORPHA:255210 | |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 | Hypothermia | OMIM:618775 | |
Isolated Thyroid-Stimulating Hormone Deficiency | Hypothermia, Depression | ORPHA:90674 | |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency | Hypothermia | ORPHA:26793 | |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria | Choreoathetosis, Unsteady gait, Hypothermia | ORPHA:17 | |
Genetic Transient Congenital Hypothyroidism | Hypothermia | ORPHA:226316 | |
Combined Oxidative Phosphorylation Deficiency 37 | Hypothermia | OMIM:618329 | |
Congenital Tricuspid Valve Dysplasia | Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... | ORPHA:555874 | |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) | Hypothermia | OMIM:251880 | |
Methylmalonic Acidemia With Homocystinuria, Type Cblc | Ataxia, Hypothermia | ORPHA:79282 | |
Trichotillomania | Hair-pulling | OMIM:613229 | |
Dopamine Beta-Hydroxylase Deficiency | Hypothermia | ORPHA:230 | |
Hypothyroidism Due To Tsh Receptor Mutations | Hypothermia | ORPHA:90673 | |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome | Fever, Hypothermia, Narcolepsy, Depression, Emotional lability | ORPHA:293987 | |
Orthostatic Hypotension 1 | Intermittent hypothermia | OMIM:223360 | |
Neuroleptic Malignant Syndrome | Fever, Hypothermia | ORPHA:94093 | |
Hereditary Sensory And Autonomic Neuropathy Type 4 | Hypothermia, Abnormal emotion, Difficulty walking, Unexplained fevers, Recurrent fever | ORPHA:642 | |
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 | |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome | Inability to walk, Broad-based gait, Hypothermia | ORPHA:438213 | |
Intellectual Developmental Disorder, Autosomal Dominant 38 | Hair-pulling, Ataxia | OMIM:616393 | |
Hypothyroidism, Congenital, Nongoitrous, 2 | Hypothermia | OMIM:218700 | |
Marburg Hemorrhagic Fever | Fever, Hypothermia | ORPHA:99826 | |
Sarcoidosis | Fever, Hypothermia | ORPHA:797 | |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome | Irritability, Hair-pulling | ORPHA:447997 | |
Choreoacanthocytosis | Hair-pulling, Depression, Irritability, Falls, Loss of ambulation, Emotional lability | ORPHA:2388 | |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities | Emotional lability, Broad-based gait, Hair-pulling | OMIM:620330 | |
Monosomy 22Q13.3 | Hair-pulling | ORPHA:48652 |
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 Pth2r.
There are 4 publications which use IMPC produced mice or data.
Title | Journal | IMPC Allele | PubMed ID |
---|---|---|---|
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. | G3 (Bethesda, Md.) (June 2020) | Pth2rtm2a(KOMP)Wtsi | PMC7263671 |
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. | Nature communications (August 2019) | Pth2rtm2a(KOMP)Wtsi | PMC6671969 |
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. | PLoS biology (April 2019) | Pth2rtm2a(KOMP)Wtsi | PMC6459510 |
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. | Scientific data (September 2017) | Pth2rtm2a(KOMP)Wtsi | PMC5827107 |
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 |
---|---|---|
Pth2rtm2a(KOMP)Wtsi | KO first allele (reporter-tagged insertion with conditional potential) | Mice, Targeting vectors, ES Cells |
Pth2rtm1e(KOMP)Wtsi | Targeted, non-conditional allele | ES Cells |
Pth2rtm41547(L1L2_st0) | KO first allele (reporter-tagged insertion with conditional potential) | Targeting vectors |
Pth2rtm1a(KOMP)Wtsi | KO first allele (reporter-tagged insertion with conditional potential) | Targeting vectors, ES Cells |
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