Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
improved glucose tolerance Ptprdtm2a(KOMP)Wtsi HOM   Early adult 2.25×10-05
preweaning lethality, incomplete penetrance Ptprdtm2a(KOMP)Wtsi HOM   Early adult 0.00
increased lean body mass Ptprdtm2a(KOMP)Wtsi HOM   Early adult 2.67×10-05
increased circulating iron level Ptprdtm2a(KOMP)Wtsi HOM Early adult 1.92×10-05
decreased total body fat amount Ptprdtm2a(KOMP)Wtsi HOM   Early adult 6.94×10-05
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

Select physiological systems to view:
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Viewing: all phenotypes

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 Skull Lateral Orientation

12 Images

X-ray

XRay Images Whole Body Dorso Ventral

12 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

12 Images

DSS Histology

Images

6 Images

X-ray

XRay Images Forepaw

12 Images

Anti-nuclear antibody assay

Images

6 Images

X-ray

XRay Images Whole Body Lateral Orientation

12 Images

Eye Morphology

Images Ophthalmoscopy

3 Images

Ear epidermis immunophenotyping

Images

12 Images

Legacy Phenotype Associated Images

View all 6 images

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
Increased circulating ferritin concentration, Sideroblastic anemia, Hypochromia, Anemia, Elevated... OMIM:205950
Coronary Artery Disease, Autosomal Dominant 2
Increased LDL cholesterol concentration, Glucose intolerance, Type II diabetes mellitus, Hypertri... OMIM:610947
Iron Overload, Susceptibility To
Increased circulating ferritin concentration, Type II diabetes mellitus, Elevated hepatic iron co... OMIM:620121
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Elevated circulating C-reactive protein concentration, Anemia, Leukocytosis OMIM:619398
X-Linked Sideroblastic Anemia
Anemia, Abnormality of iron homeostasis, Glucose intolerance, Splenomegaly ORPHA:75563
Hjv Or Hamp-Related Hemochromatosis
Abnormality of iron homeostasis, Increased circulating ferritin concentration, Osteoporosis, Elev... ORPHA:79230
Hemochromatosis, Type 5
Abnormal circulating copper concentration, Increased circulating iron concentration, Abnormal cir... OMIM:615517
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating iron concentration, Reduced red cell pyruvate kinase level, Increased circu... ORPHA:766
Immunodeficiency 69
Hemophagocytosis, Failure to thrive, Increased circulating ferritin concentration, Pancytopenia, ... OMIM:618963
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Glucose intolerance, Anemia, Elevated transferrin s... OMIM:606069
Immunodeficiency 103, Susceptibility To Fungal Infections
Decreased circulating iron concentration, Hypereosinophilia, Abnormal B cell count, Abnormal prop... OMIM:212050
Anemia, Hypochromic Microcytic, With Iron Overload 1
Increased circulating iron concentration, Erythroid hyperplasia, Hypochromia, Elevated hepatic ir... OMIM:206100
Hemochromatosis, Neonatal
Abnormality of iron homeostasis, Increased circulating iron concentration, Hypoglycemia, Increase... OMIM:231100
Beta-Thalassemia Intermedia
Osteopenia, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Erythr... ORPHA:231222
Hemochromatosis, Type 3
Increased circulating iron concentration, Increased circulating ferritin concentration, Lymphopen... OMIM:604250
Beta-Thalassemia
Microcytic anemia, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Anemia, Abnormality of ir... ORPHA:848
Mody
Abnormal oral glucose tolerance, Glycosuria, Insulin-resistant diabetes mellitus, Hyperglycemia, ... ORPHA:552
Anemia, Hypochromic Microcytic, With Iron Overload 2
Increased circulating ferritin concentration, Sideroblastic anemia, Splenomegaly, Elevated hepati... OMIM:615234
Aceruloplasminemia
Decreased circulating iron concentration, Increased circulating ferritin concentration, Acerulopl... OMIM:604290
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased circulating iron concentration, Increased circulating ferritin concentration, Hepatospl... ORPHA:300298
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
Symptomatic Form Of Hfe-Related Hemochromatosis
Increased circulating ferritin concentration, Hyperglycemia, Splenomegaly, Weight loss, Osteoporo... ORPHA:465508
Dominant Beta-Thalassemia
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Failure to thriv... ORPHA:231226
Congenital Dyserythropoietic Anemia Type Iii
Increased circulating iron concentration, Increased mean corpuscular volume, Increased total iron... ORPHA:98870
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Failure to thrive in infancy, Leukocytosis, Increased proportion of CD4-positive T cells, Lipodys... OMIM:617099
Beta-Thalassemia Major
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Failure to thriv... ORPHA:231214
Hereditary Chronic Pancreatitis
Elevated circulating C-reactive protein concentration, Leukocytosis, Diabetes mellitus ORPHA:676
Hyperferritinemia With Or Without Cataract
Abnormal transferrin saturation, Decreased transferrin saturation, Abnormal circulating iron conc... OMIM:600886
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... OMIM:300908
Sickle Cell Anemia
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... ORPHA:232
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... OMIM:608203
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased circulating iron concentration, Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, ... OMIM:616959
Trichohepatoenteric Syndrome 1
Hypoalbuminemia, Hypermethioninemia, Increased circulating iron concentration, Small for gestatio... OMIM:222470
Syndromic Diarrhea
Lymphopenia, Inguinal hernia, Splenomegaly, Hypoplasia of the thymus, Thrombocytosis, Abnormality... ORPHA:84064
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Abnormal blood inorganic cation concentration, Polycythemia, Increased total iron binding capacit... 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 14 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Neural conditional ablation of the protein tyrosine phosphatase receptor Delta PTPRD impairs gliogenesis in the developing mouse brain cortex. Frontiers in cell and developmental biology (February 2024) Ptprdtm2c(KOMP)Wtsi Ptprdtm2a(KOMP)Wtsi 38487272
Combinatorial expression of neurexins and LAR-type phosphotyrosine phosphatase receptors instructs assembly of a cerebellar circuit. Nature communications (August 2023) Ptprdtm2a(KOMP)Wtsi PMC10435579
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
Functional analysis of candidate genes from genome-wide association studies of hearing. Hearing research (January 2020) Ptprdtm2a(KOMP)Wtsi PMC6996162
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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