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Gene: Ptn MGI:97804

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
pleiotrophin
Synonyms:
heparin-binding growth factor 8,  Osf1,  HB-GAM,  Osf-1,  heparin-binding growth-associated molecule,  HBGF-8,  HBNF

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Ptn 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 Ptn by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Specific Granule Deficiency 1
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... OMIM:245480
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Neutropenia-Monocytopenia-Deafness Syndrome
Sensorineural hearing impairment, Abnormal macrophage morphology, Abnormality of neutrophils ORPHA:2690
Histiocytosis, Familial Lipochrome
Increased alpha-globulin, Increased circulating antibody level, Histiocytosis OMIM:235900
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci OMIM:233670
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia, Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis,... OMIM:608898
Immunodeficiency 32B
Hepatomegaly, Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burs... OMIM:226990
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Impaired n... OMIM:608203
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... OMIM:613470
Papular Xanthoma
Hyperlipidemia, Histiocytosis ORPHA:158008
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280794
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Low-frequency s... OMIM:613101
Immunodeficiency 81
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... OMIM:619374
Familial Isolated Dilated Cardiomyopathy
Sensorineural hearing impairment, Elevated circulating creatine kinase concentration, Abnormality... ORPHA:154
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Hypoplasia of the ear cartilage, Hepatomegaly ORPHA:66661
Congenital Disorder Of Glycosylation, Type Iic
Neutrophilia, Reduction of neutrophil motility OMIM:266265
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Elevated circulating C-reactiv... OMIM:308240
Sea-Blue Histiocyte Disease
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating... OMIM:269600
Indolent Systemic Mastocytosis
Hepatomegaly, Splenomegaly, Increased proportion of CD25+ mast cells, Mastocytosis, Abnormal mast... ORPHA:98848
Necrobiosis Lipoidica
Granuloma, Abnormality of neutrophil physiology ORPHA:542592
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... ORPHA:2585
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia, Partial absence ... OMIM:618986
Immunodeficiency 108 With Autoinflammation
Hyposegmentation of neutrophil nuclei, Impaired neutrophil chemotaxis OMIM:260570
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Hepatomegaly, Thrombocytopenia, Splenomegaly, Jaundice... OMIM:214500
Chédiak-Higashi Syndrome
Hyponatremia, Abnormal leukocyte morphology, Pancytopenia, Hypertriglyceridemia, Elevated hepatic... ORPHA:167
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Abscess, Perianal abscess, Splenomegaly, Hepatosplenomegaly... OMIM:618935
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Decreased circulating IgG level, ... OMIM:619802
Leishmaniasis
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Spleno... ORPHA:507
Aggressive Systemic Mastocytosis
Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomeg... ORPHA:98850
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Hepatomegaly, Liver abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis, Rectal abscess OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Hepatomegaly, Liver abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis, Rectal abscess OMIM:233710
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Hepatomegaly, Liver abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis, Rectal abscess OMIM:233690
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly... ORPHA:98849
Saccharopinuria
Hypercystinemia, Hyperammonemia, Abnormality of circulating enzyme level, Elevated plasma citrull... ORPHA:3124
Focal Facial Dermal Dysplasia Type Iv
Abnormal mast cell morphology ORPHA:398189
Granulomatous Disease, Chronic, X-Linked
Hepatomegaly, Liver abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis, Granuloma, R... OMIM:306400
Shwachman-Diamond Syndrome
Normocytic anemia, Transient neutropenia, Aplastic anemia, Leukopenia, Neutropenia, Pancreatic hy... ORPHA:811
Leukocyte Adhesion Deficiency
Acute myeloid leukemia, Perianal abscess, Leukocytosis, Peritonitis, Bone marrow hypocellularity,... ORPHA:2968
Glutaric Acidemia Type 3
Elevated circulating glutaric acid concentration, Abnormality of circulating enzyme level ORPHA:35706
Hennekam-Beemer Syndrome
Mastocytosis, Conductive hearing impairment, Microtia, Hearing impairment ORPHA:2135
Say-Barber-Miller Syndrome
Low-set, posteriorly rotated ears, Macrotia, Transient hypogammaglobulinemia of infancy, Abnormal... ORPHA:3132
Primary Hyperoxaluria Type 1
Calcinosis, Hyperoxaluria, Anemia, Abnormality of circulating enzyme level ORPHA:93598
Pmm2-Cdg
Elevated hepatic transaminase, Abnormal pinna morphology, Reduced thyroxin-binding globulin, Abno... ORPHA:79318

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 Ptn

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 Ptn.

No publications found that use IMPC mice or data for Ptn.

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MGI Allele Allele Type Produced
Ptntm372761(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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