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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 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
preweaning lethality, incomplete penetrance Ptprdtm2a(KOMP)Wtsi HOM   Early adult 0.00
decreased total body fat amount Ptprdtm2a(KOMP)Wtsi HOM   Early adult 6.94×10-05
increased leukocyte cell number Ptprdtm2a(KOMP)Wtsi HOM Early adult 6.54×10-06
increased circulating iron level Ptprdtm2a(KOMP)Wtsi HOM Early adult 1.92×10-05
improved glucose tolerance Ptprdtm2a(KOMP)Wtsi HOM   Early adult 2.25×10-05
increased lean body mass Ptprdtm2a(KOMP)Wtsi HOM   Early adult 2.67×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
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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.

DSS Histology

Images

6 Images

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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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X-ray

XRay Images Forepaw

12 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

12 Images

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Eye Morphology

Images Ophthalmoscopy

3 Images

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Anti-nuclear antibody assay

Images

6 Images

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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
Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati... OMIM:205950
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Impaired glucose tolerance, Osteoporosis, Increased LDL cholesterol concent... OMIM:610947
Iron Overload, Susceptibility To
Increased circulating ferritin concentration, Elevated transferrin saturation, Elevated circulati... OMIM:620121
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis, Elevated circulating C-reactive protein concentration OMIM:619398
X-Linked Sideroblastic Anemia
Splenomegaly, Glucose intolerance, Anemia, Abnormality of iron homeostasis ORPHA:75563
Hjv Or Hamp-Related Hemochromatosis
Diabetes mellitus, Increased circulating ferritin concentration, Elevated transferrin saturation,... ORPHA:79230
Hemochromatosis, Type 5
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati... OMIM:615517
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Increased circulating ferritin co... ORPHA:766
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Decreased serum iron, Hypereosinophilia, Abnormal proportion of CD8-positi... OMIM:212050
Immunodeficiency 69
Pancytopenia, Splenomegaly, Increased circulating ferritin concentration, Leukocytosis, Hepatospl... OMIM:618963
Hemochromatosis, Type 4
Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin concentration, Elev... OMIM:606069
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery... OMIM:206100
Beta-Thalassemia Intermedia
Osteopenia, Increased HbA2 hemoglobin, Diabetes mellitus, Extramedullary hematopoiesis, Anemia of... ORPHA:231222
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Increased serum iron, Hypoglycemia, Abnormality of ... OMIM:231100
Hemochromatosis, Type 3
Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum ir... OMIM:604250
Genetic Hyperferritinemia Without Iron Overload
Increased circulating ferritin concentration, Abnormal serum iron concentration, Abnormal transfe... ORPHA:254704
Beta-Thalassemia
Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Reduced bone mineral dens... ORPHA:848
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Os... ORPHA:232
Mody
Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli... ORPHA:552
Anemia, Hypochromic Microcytic, With Iron Overload 2
Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Decr... OMIM:615234
Aceruloplasminemia
Diabetes mellitus, Decreased serum iron, Increased circulating ferritin concentration, Acerulopla... OMIM:604290
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased circulating ferritin concentration, Reticulocytopenia, Anisopoikilocytosis, Hepatosplen... ORPHA:300298
Symptomatic Form Of Hfe-Related Hemochromatosis
Diabetes mellitus, Increased circulating ferritin concentration, Elevated transferrin saturation,... ORPHA:465508
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Diabetes mellitus, Failure to thrive in infancy, Anisocytosis, Decr... ORPHA:231226
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Lipodystrophy, Failure to thrive in infancy, Elevated circulating C-reactive protei... OMIM:617099
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Abnormal erythrocyte morphology, Increased serum iron, Increased mean corpuscular v... ORPHA:98870
Beta-Thalassemia Major
Extramedullary hematopoiesis, Diabetes mellitus, Failure to thrive in infancy, Anemia of inadequa... ORPHA:231214
Hereditary Chronic Pancreatitis
Leukocytosis, Diabetes mellitus, Elevated circulating C-reactive protein concentration ORPHA:676
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Unconjugated hyperbilirubinemia, Poiki... OMIM:300908
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Trichohepatoenteric Syndrome 1
Small for gestational age, Increased mean platelet volume, Splenomegaly, Increased serum iron, Hy... OMIM:222470
Syndromic Diarrhea
Inguinal hernia, Small for gestational age, Increased mean platelet volume, Splenomegaly, Hypopla... ORPHA:84064
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Abnormal blood inorganic cation concentration, Splenomegaly, Hyperglycinemia, Increased total iro... 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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