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
preweaning lethality, incomplete penetrance Ptprdtm2a(KOMP)Wtsi HOM   Early adult 0.00
improved glucose tolerance Ptprdtm2a(KOMP)Wtsi HOM   Early adult 2.25×10-05
decreased total body fat amount Ptprdtm2a(KOMP)Wtsi HOM   Early adult 6.94×10-05
increased lean body mass Ptprdtm2a(KOMP)Wtsi HOM   Early adult 2.67×10-05
increased bone mineral content Ptprdtm2a(KOMP)Wtsi HOM Early adult 7.24×10-05
increased leukocyte cell number Ptprdtm2a(KOMP)Wtsi HOM Early adult 6.54×10-06
decreased grip strength Ptprdtm2a(KOMP)Wtsi HOM Early adult 9.02×10-08
increased circulating iron level Ptprdtm2a(KOMP)Wtsi HOM Early adult 1.92×10-05

Download data as:  TSV  XLS

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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 Dorso Ventral Orientation

12 Images

X-ray

XRay Images Skull Lateral Orientation

12 Images

X-ray

XRay Images Whole Body Dorso Ventral

12 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

DSS Histology

Images

6 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
Anemia, Hypochromia, Sideroblastic anemia, Decreased mean corpuscular volume, Elevated transferri... OMIM:205950
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Increased LDL cholesterol concentration, Impaired glucose tolerance, Osteop... OMIM:610947
Iron Overload, Susceptibility To
Elevated circulating hepcidin concentration, Elevated hepatic iron concentration, Type II diabete... 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, Abnormality of iron homeostasis, Anemia, Glucose intolerance ORPHA:75563
Hjv Or Hamp-Related Hemochromatosis
Increased circulating ferritin concentration, Abnormality of iron homeostasis, Osteoporosis, Elev... ORPHA:79230
Hemochromatosis, Type 5
Abnormal circulating transferrin concentration, Anemia, Abnormal circulating ceruloplasmin concen... OMIM:615517
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Unconjugated hyperbilir... ORPHA:766
Immunodeficiency 69
Anemia, Hemophagocytosis, Thrombocytosis, Pancytopenia, Leukocytosis, Failure to thrive, Hepatosp... OMIM:618963
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Anemia, Glucose intolerance, Impaired glucose toler... OMIM:606069
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells, Abnormal proport... OMIM:212050
Anemia, Hypochromic Microcytic, With Iron Overload 1
Anemia, Hypochromia, Elevated hepatic iron concentration, Increased circulating iron concentratio... OMIM:206100
Beta-Thalassemia Intermedia
Osteopenia, Reduced bone mineral density, Abnormality of iron homeostasis, Extramedullary hematop... ORPHA:231222
Hemochromatosis, Neonatal
Increased circulating iron concentration, Increased circulating ferritin concentration, Abnormali... OMIM:231100
Hemochromatosis, Type 3
Anemia, Increased circulating iron concentration, Lymphopenia, Elevated transferrin saturation, I... OMIM:604250
Beta-Thalassemia
Reduced bone mineral density, Abnormality of iron homeostasis, Anemia, Thrombocytopenia, Splenome... ORPHA:848
Mody
Large for gestational age, Neonatal hypoglycemia, Glucose intolerance, Abnormal circulating C-pep... ORPHA:552
Anemia, Hypochromic Microcytic, With Iron Overload 2
Anemia, Hypochromia, Poikilocytosis, Elevated hepatic iron concentration, Sideroblastic anemia, S... OMIM:615234
Aceruloplasminemia
Increased circulating ferritin concentration, Anemia, Aceruloplasminemia, Decreased circulating i... OMIM:604290
Chronic Myeloid Leukemia
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl... ORPHA:521
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Anisopoikilocytosis, Anemia, Decreased transferrin saturation, Reticulocytopenia, Elevated hepati... ORPHA:300298
Symptomatic Form Of Hfe-Related Hemochromatosis
Abnormality of iron homeostasis, Osteoporosis, Diabetes mellitus, Hyperglycemia, Splenomegaly, We... ORPHA:465508
Dominant Beta-Thalassemia
Abnormality of iron homeostasis, Hypochromic microcytic anemia, Extramedullary hematopoiesis, Dec... ORPHA:231226
Congenital Dyserythropoietic Anemia Type Iii
Increased total iron binding capacity, Anemia, Increased mean corpuscular volume, Hyperbilirubine... ORPHA:98870
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Panniculitis, Increased proportion of CD4-positive T cells, Elevated circulating C-reactive prote... OMIM:617099
Beta-Thalassemia Major
Anisopoikilocytosis, Abnormality of iron homeostasis, Hypochromic microcytic anemia, Extramedulla... ORPHA:231214
Hereditary Chronic Pancreatitis
Diabetes mellitus, Leukocytosis, Elevated circulating C-reactive protein concentration ORPHA:676
Hyperferritinemia With Or Without Cataract
Decreased transferrin saturation, Increased circulating ferritin concentration, Abnormal circulat... OMIM:600886
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Unconjugated hyperbilirubinemi... OMIM:300908
Sickle Cell Anemia
Chronic hemolytic anemia, Iron deficiency anemia, Increased mean corpuscular volume, Splenic infa... ORPHA:232
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Macrocytic anemia, Rectal abscess, Reduction of neutrophil motility, Leukocytosis, Neutrophilia, ... OMIM:608203
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anemia, Hypochromia, Poikilocytosis, Elliptocytosis, Anisocytosis, Leukopenia, Decreased circulat... OMIM:616959
Trichohepatoenteric Syndrome 1
Abnormality of iron homeostasis, Hypermethioninemia, Hypergalactosemia, Failure to thrive, Increa... OMIM:222470
Syndromic Diarrhea
Abnormality of iron homeostasis, Inguinal hernia, Hypoplasia of the thymus, Increased mean platel... ORPHA:84064
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Increased total iron binding capacity, Abnormal blood inorganic cation concentration, Abnormal tr... 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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