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Gene: Pth2r MGI:2180917

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Gene Summary

Name:
parathyroid hormone 2 receptor
Synonyms:
Pthr2

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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
increased heart weight Pth2rtm2a(KOMP)Wtsi HOM Early adult 9.62×10-05

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Forepaw

13 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

15 Images

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X-ray

XRay Images Skull Lateral Orientation

14 Images

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X-ray

XRay Images Whole Body Lateral Orientation

13 Images

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X-ray

XRay Images Whole Body Dorso Ventral

13 Images

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Legacy Phenotype Associated Images
Pth2rtm2a(KOMP)Wtsi
WT, Female, WTSI
Pth2rtm2a(KOMP)Wtsi
WT, Female, WTSI
Pth2rtm2a(KOMP)Wtsi
WT, Female, WTSI
Pth2rtm2a(KOMP)Wtsi
WT, Female, WTSI
Pth2rtm2a(KOMP)Wtsi
WT, Female, WTSI

View all 97 images

Pth2rtm2a(KOMP)Wtsi
right eye, HOM, Female, WTSI
Pth2rtm2a(KOMP)Wtsi
back skin, HOM, Female, WTSI

Human diseases caused by Pth2r mutations

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.

No human diseases associated to this gene by orthology or annotation.

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, Hypothermia, Ataxia ORPHA:29822
Developmental And Epileptic Encephalopathy 78
Inability to walk, Hypothermia OMIM:618557
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy 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
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Hypothermia OMIM:616501
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Fever, Inability to walk, Hypothermia, Abnormality of temperature regulation, Unsteady gait OMIM:618493
Meningococcal Meningitis
Fever, Hypothermia, Irritability ORPHA:33475
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Aromatic L-Amino Acid Decarboxylase Deficiency
Temperature instability, Intermittent hypothermia, Emotional lability, Irritability, Athetosis, C... OMIM:608643
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, Hypothermia, Irritability ORPHA:292
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, E... OMIM:618052
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
Alexander Disease
Depression, Hypothermia, Emotional lability, Gait disturbance, Ataxia ORPHA:58
Carnitine-Acylcarnitine Translocase Deficiency
Hypothermia, Irritability ORPHA:159
Adult-Onset Autosomal Dominant Leukodystrophy
Temperature instability, Gait ataxia, Hypothermia, Dysmetria, Gait disturbance, Ataxia, Spastic g... ORPHA:99027
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Hypothermia OMIM:608800
N-Acetylglutamate Synthase Deficiency
Hypothermia OMIM:237310
Ethylene Glycol Poisoning
Euphoria, Hypothermia, Ataxia ORPHA:31826
3-Hydroxy-3-Methylglutaric Aciduria
Fever, Hypothermia, Ataxia ORPHA:20
Sepsis In Premature Infants
Fever, Temperature instability, Hypothermia ORPHA:90051
Mitochondrial Dna-Associated Leigh Syndrome
Fever, Gait ataxia, Hypothermia, Ataxia ORPHA:255210
Tbck-Related Intellectual Disability Syndrome
Inability to walk, Hypothermia ORPHA:488632
Isolated Thyroid-Stimulating Hormone Deficiency
Depression, Hypothermia ORPHA:90674
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Hypothermia OMIM:618775
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypothermia ORPHA:26793
Congenital Tricuspid Valve Dysplasia
Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardiomegaly, Tricuspid valve ... ORPHA:555874
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hypothermia, Unsteady gait, Choreoathetosis ORPHA:17
Genetic Transient Congenital Hypothyroidism
Hypothermia ORPHA:226316
Combined Oxidative Phosphorylation Deficiency 37
Hypothermia OMIM:618329
Hypothyroidism Due To Tsh Receptor Mutations
Hypothermia ORPHA:90673
Trichotillomania
Hair-pulling OMIM:613229
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypothermia OMIM:251880
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hypothermia, Ataxia ORPHA:79282
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Depression, Fever, Narcolepsy, Hypothermia, Emotional lability ORPHA:293987
Dopamine Beta-Hydroxylase Deficiency
Hypothermia ORPHA:230
Neuroleptic Malignant Syndrome
Fever, Hypothermia ORPHA:94093
Aorta Coarctation
Hypoplastic left heart, Tetralogy of Fallot, Cardiomegaly, Bicuspid aortic valve, Perimembranous ... ORPHA:1457
Orthostatic Hypotension 1
Intermittent hypothermia OMIM:223360
Hereditary Sensory And Autonomic Neuropathy Type 4
Unexplained fevers, Recurrent fever, Difficulty walking, Abnormal emotion, Hypothermia 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
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hair-pulling, Irritability ORPHA:447997
Sarcoidosis
Fever, Hypothermia ORPHA:797
Choreoacanthocytosis
Depression, Falls, Emotional lability, Irritability, Loss of ambulation, Hair-pulling ORPHA:2388
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Broad-based gait, Emotional lability, Hair-pulling OMIM:620330
Cornelia De Lange Syndrome 6
Hair-pulling OMIM:620568
Monosomy 22Q13.3
Hair-pulling ORPHA:48652

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Pth2r

IMPC related publications

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

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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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