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Gene: Ptprd MGI:97812

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Gene Summary

Name:
protein tyrosine phosphatase, receptor type, D
Synonyms:
1110002J03Rik,  B230219D21Rik,  3000002J10Rik

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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 lean body mass Ptprdtm2a(KOMP)Wtsi HOM   Early adult 2.67×10-05
decreased total body fat amount Ptprdtm2a(KOMP)Wtsi HOM   Early adult 6.92×10-05
increased circulating iron level Ptprdtm2a(KOMP)Wtsi HOM Early adult 1.92×10-05
improved glucose tolerance Ptprdtm2a(KOMP)Wtsi HOM   Early adult 2.27×10-05
preweaning lethality, incomplete penetrance Ptprdtm2a(KOMP)Wtsi HOM   Early adult 0.00
increased bone mineral content Ptprdtm2a(KOMP)Wtsi HOM Early adult 7.24×10-05
decreased grip strength Ptprdtm2a(KOMP)Wtsi HOM Early adult 9.02×10-08
increased leukocyte cell number Ptprdtm2a(KOMP)Wtsi HOM   Early adult 6.54×10-06

Download data as:  TSV  XLS

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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 Whole Body Lateral Orientation

12 Images

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X-ray

XRay Images Whole Body Dorso Ventral

12 Images

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X-ray

XRay Images Skull Lateral Orientation

12 Images

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Download thumbnail Download
Anti-nuclear antibody assay

Images

6 Images

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DSS Histology

Images

6 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

12 Images

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X-ray

XRay Images Forepaw

12 Images

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Eye Morphology

Images Ophthalmoscopy

3 Images

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FCS thumbnail FCS
Ear epidermis immunophenotyping

Images

12 Images

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Legacy Phenotype Associated Images
Ptprdtm2a(KOMP)Wtsi
HOM, Male, WTSI
Ptprdtm2a(KOMP)Wtsi
anterior commissure, decreased anterior commissure size, HOM, Male, WTSI
Ptprdtm2a(KOMP)Wtsi
decreased anterior commissure size, anterior commissure, HOM, Male, WTSI
Ptprdtm2a(KOMP)Wtsi
anterior commissure, decreased anterior commissure size, HOM, Male, WTSI
Ptprdtm2a(KOMP)Wtsi
HOM, Male, WTSI

View all 6 images

Ptprdtm2a(KOMP)Wtsi
head, HOM, Female, WTSI
Ptprdtm2a(KOMP)Wtsi
head, abnormal snout morphology, asymmetric snout, HOM, Male, WTSI
Ptprdtm2a(KOMP)Wtsi
abnormal snout morphology, asymmetric snout, head, HOM, Male, WTSI
Ptprdtm2a(KOMP)Wtsi
persistence of hyaloid vascular system, HOM, Female, WTSI
Ptprdtm2a(KOMP)Wtsi
persistence of hyaloid vascular system, HOM, Female, WTSI
Ptprdtm2a(KOMP)Wtsi
persistence of hyaloid vascular system, HOM, Female, WTSI

Human diseases caused by Ptprd 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 Ptprd by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Anemia, Elevated transferrin saturation, Sideroblastic anemia, Decreased mean corpuscular volume,... OMIM:205950
Coronary Artery Disease, Autosomal Dominant 2
Impaired glucose tolerance, Type II diabetes mellitus, Osteoporosis, Increased LDL cholesterol co... OMIM:610947
Iron Overload, Susceptibility To
Elevated circulating hepcidin concentration, Type II diabetes mellitus, Elevated transferrin satu... OMIM:620121
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis OMIM:619398
X-Linked Sideroblastic Anemia
Splenomegaly, Anemia, Abnormality of iron homeostasis, Glucose intolerance ORPHA:75563
Hemochromatosis Type 2
Abnormality of iron homeostasis, Elevated transferrin saturation, Diabetes mellitus, Increased ci... ORPHA:79230
Hemochromatosis, Type 5
Anemia, Abnormal circulating copper concentration, Elevated transferrin saturation, Abnormal circ... OMIM:615517
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Anemia, Congenital hemolytic anemia, Splenomegaly, Unconjugated hyperbilirubinemia, Elevated tran... ORPHA:766
Immunodeficiency 69
Anemia, Pancytopenia, Hepatosplenomegaly, Failure to thrive, Increased circulating ferritin conce... OMIM:618963
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cell... OMIM:212050
Hemochromatosis, Type 4
Anemia, Impaired glucose tolerance, Elevated transferrin saturation, Diabetes mellitus, Increased... OMIM:606069
Anemia, Hypochromic Microcytic, With Iron Overload 1
Anemia, Erythroid hyperplasia, Decreased mean corpuscular volume, Elevated hepatic iron concentra... OMIM:206100
Iron Overload In Africa
Elevated transferrin saturation OMIM:601195
Beta-Thalassemia Intermedia
Splenomegaly, Abnormality of iron homeostasis, Increased HbA2 hemoglobin, Extramedullary hematopo... ORPHA:231222
Hemochromatosis, Neonatal
Hypoglycemia, Increased circulating ferritin concentration, Abnormality of iron homeostasis, Incr... OMIM:231100
Hemochromatosis, Type 3
Anemia, Elevated transferrin saturation, Lymphopenia, Increased circulating ferritin concentratio... OMIM:604250
Genetic Hyperferritinemia Without Iron Overload
Abnormal serum iron concentration, Abnormal transferrin saturation, Increased circulating ferriti... ORPHA:254704
Beta-Thalassemia
Anemia, Abnormality of iron homeostasis, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly, Mic... ORPHA:848
Sickle Cell Anemia
Hemolytic anemia, Unconjugated hyperbilirubinemia, Increased mean corpuscular volume, Reticulocyt... ORPHA:232
Mody
Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Glycosuria, Large for gestational ag... ORPHA:552
Anemia, Hypochromic Microcytic, With Iron Overload 2
Anemia, Elevated transferrin saturation, Poikilocytosis, Decreased mean corpuscular volume, Incre... OMIM:615234
Aceruloplasminemia
Anemia, Aceruloplasminemia, Decreased serum iron, Diabetes mellitus, Increased circulating ferrit... OMIM:604290
Symptomatic Form Of Hemochromatosis Type 1
Splenomegaly, Abnormality of iron homeostasis, Weight loss, Elevated transferrin saturation, Diab... ORPHA:465508
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Anemia, Reticulocytopenia, Dysplastic erythropoesis, Decreased transferrin saturation, Anisopoiki... ORPHA:300298
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Abnormal basophil morphology, Thrombocytosis, Leukocytosis, Myel... ORPHA:521
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Lipodystrophy, Elevated circulating C-reactive protein concentration, Panniculitis,... OMIM:617099
Dominant Beta-Thalassemia
Splenomegaly, Abnormality of iron homeostasis, Hypersplenism, Reduced hemoglobin A, Decreased mea... ORPHA:231226
Congenital Dyserythropoietic Anemia Type Iii
Anemia, Increased total iron binding capacity, Hyperbilirubinemia, Poikilocytosis, Abnormal eryth... ORPHA:98870
Beta-Thalassemia Major
Splenomegaly, Abnormality of iron homeostasis, Hypersplenism, Anisopoikilocytosis, Reduced hemogl... ORPHA:231214
Hereditary Chronic Pancreatitis
Diabetes mellitus, Elevated circulating C-reactive protein concentration, Leukocytosis ORPHA:676
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Heinz bodies, Unconjugated hyperbilirubinemia, Fava bean-induced hemolytic anemia, Reticulocytosi... OMIM:300908
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Impaired neutrophil chemotaxis, Neutrophilia, Abnormally low T cell receptor excision circle leve... OMIM:608203
Trichohepatoenteric Syndrome 1
Hypermethioninemia, Splenomegaly, Abnormality of iron homeostasis, Small for gestational age, Inc... OMIM:222470
Syndromic Diarrhea
Hypoplasia of the thymus, Abnormality of iron homeostasis, Small for gestational age, Increased m... ORPHA:84064
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Splenomegaly, Increased total iron binding capacity, Hyperglycinemia, Abnormal blood inorganic ca... ORPHA:309854

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 Ptprd

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 Ptprd.

There are 11 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Asprosin promotes feeding through SK channel-dependent activation of AgRP neurons. Science advances (February 2023) Ptprdtm2c(KOMP)Wtsi PMC9946352
Protein tyrosine phosphatase receptor δ serves as the orexigenic asprosin receptor. Cell metabolism (March 2022) Ptprdtm2c(KOMP)Wtsi Ptprdtm2a(KOMP)Wtsi 35298903
Intact synapse structure and function after combined knockout of PTPδ, PTPσ, and LAR. eLife (March 2021) Ptprdtm2a(KOMP)Wtsi PMC7963474
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Ptprdtm2a(KOMP)Wtsi PMC7263671
LAR receptor phospho-tyrosine phosphatases regulate NMDA-receptor responses. eLife (January 2020) Ptprdtm2a(KOMP)Wtsi PMC6984820
The Protein Tyrosine Phosphatase Receptor Delta Regulates Developmental Neurogenesis. Cell reports (January 2020) Ptprdtm2a(KOMP)Wtsi 31914388
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation. Nature immunology (December 2019) Ptprdtm2a(KOMP)Wtsi PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Ptprdtm2a(KOMP)Wtsi Ptprdtm2a(KOMP)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Ptprdtm2a(KOMP)Wtsi PMC6459510
Astrocyte-Secreted Glypican 4 Regulates Release of Neuronal Pentraxin 1 from Axons to Induce Functional Synapse Formation. Neuron (October 2017) Ptprdtm2c(KOMP)Wtsi Ptprdtm2a(KOMP)Wtsi PMC5663462
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Ptprdtm2a(KOMP)Wtsi PMC5827107

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MGI Allele Allele Type Produced
Ptprdtm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Ptprdtm470565(L1L2_GT0_LF2A_LacZ_BetactP_neo) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Ptprdtm2a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Ptprdtm2e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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