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Gene: Hpse MGI:1343124

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Gene Summary

Name:
heparanase
Synonyms:
Hpa

Order Alleles

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 circulating creatinine level Hpsetm1b(EUCOMM)Hmgu HOM   Early adult 5.66×10-05

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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 Skull Dorso Ventral Orientation

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X-ray

XRay Images Skull Lateral Orientation

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Immunophenotyping

Panel A FCS file(s)

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X-ray

XRay Images Whole Body Dorso Ventral

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Immunophenotyping

Panel B FCS file(s)

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Gross Pathology and Tissue Collection

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X-ray

XRay Images Whole Body Lateral Orientation

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Histopathology

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Human diseases caused by Hpse 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 Hpse by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Thrombocytosis, Increased circulating antibody level, Congenital agranulocytosis, Acute m... OMIM:202700
Eosinophilia, Familial
Anemia, Recurrent bronchitis, Leukocytosis, Thrombocytopenia, Eosinophilia OMIM:131400
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Decreased circulating total IgM, Increased circulating IgE level, Atopic dermatitis, C... OMIM:617638
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Arthritis, Abnormal pleura morphology, Lymphopenia ORPHA:2582
Juvenile Temporal Arteritis
Eosinophilia, Leukocytosis, Allergic rhinitis, Conjunctivitis ORPHA:26137
Immunodeficiency 103, Susceptibility To Fungal Infections
Chronic oral candidiasis, Abnormal natural killer cell count, Abnormal proportion of CD8-positive... OMIM:212050
Immunodeficiency 25
Autoimmune hemolytic anemia, Increased circulating IgG level, Complete or near-complete absence o... OMIM:610163
Immunodeficiency 32B
Anemia, Monocytopenia, Bronchiectasis, Sinusitis, Abnormal circulating IgG level, Neutrophilia, T... OMIM:226990
Immunodeficiency 88
Eosinophilia OMIM:619630
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Immunodeficiency 97 With Autoinflammation
Granuloma, Splenomegaly, Lymphopenia, Monocytopenia, Reduced natural killer cell count, Decreased... OMIM:619802
Myeloproliferative Disorder, Chronic, With Eosinophilia
Eosinophilia, Myeloproliferative disorder OMIM:131440
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections
Increased circulating IgE level, Atopic dermatitis, Eosinophilic infiltration of the esophagus, R... OMIM:620532
Generalized Eruptive Histiocytosis
Maculopapular exanthema, Hypereosinophilia, Histiocytosis, Leukemia ORPHA:157991
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Chronic oral candidiasis, Increased circulating antibody level, Decreased proportion of CD3-posit... ORPHA:169160
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Recurrent otitis media, Increased circulating IgE level, Eczematoid dermatitis, Keratitis, Bronch... OMIM:618523
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Recurrent lower respiratory tract infections, Incre... ORPHA:169154
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Acute Myelomonocytic Leukemia
Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis ORPHA:517
Kimura Disease
Eosinophilia, Increased circulating IgE level ORPHA:482
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Chronic oral candidiasis, Recurrent otitis media, Sterile abscess, Chronic mucocutaneous candidia... OMIM:618282
Immunodeficiency 50
Decreased circulating antibody level, Eczematoid dermatitis, Lymphopenia, Recurrent respiratory i... OMIM:300988
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Decreased circulating total IgM, Abnormal natural killer cell count,... ORPHA:331206
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Reduced delayed hypersensitivity, Iron deficiency anemia, Increased ... OMIM:601859
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Pulmonary pneumatocele, Recurrent otitis media, Decreased circulating total IgM, Sclerosing chola... OMIM:243700
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Beta-Thalassemia, Dominant Inclusion Body Type
Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, Erythrocyte inc... OMIM:603902
Eosinophilopenia
Allergic rhinitis, Decreased eosinophil count OMIM:131430
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio OMIM:613978
Benign Cephalic Histiocytosis
Skin rash, Inflammatory abnormality of the skin, Histiocytosis ORPHA:157997
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Recurrent lower respiratory tract infections, Neutropenia in presenc... OMIM:615952
Hypereosinophilic Syndrome, Idiopathic
Eosinophilia, Myeloproliferative disorder, Splenomegaly OMIM:607685
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Autosomal Dominant Severe Congenital Neutropenia
Aplastic anemia, Acute myeloid leukemia, Recurrent aphthous stomatitis, Periodontitis, Acute lymp... ORPHA:486
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Reduced delayed hypersensitivity, Iron deficiency anemia, Malar rash... OMIM:603909
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Reticular Dysgenesis
Congenital agranulocytosis, Lack of T cell function, Hypoplasia of the thymus, Impaired T cell fu... OMIM:267500
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Idiopathic Chronic Eosinophilic Pneumonia
Hypersensitivity pneumonitis, Atelectasis, Increased circulating IgE level, Pleural effusion, Leu... ORPHA:2902
Hemoglobin E Disease
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H... ORPHA:2133
Pgm3-Cdg
Chronic otitis media, Decreased proportion of CD3-positive T cells, Reduced antigen-specific T ce... ORPHA:443811
Immunodeficiency 18
Defective T cell proliferation, Recurrent otitis media, Decreased circulating total IgM, Decrease... OMIM:615615
Immunodeficiency 7
Autoimmune hemolytic anemia, Chronic oral candidiasis, Recurrent otitis media, Splenomegaly, Hype... OMIM:615387
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anemia, Arthritis, Decreased FOXP3-expressing T cell count, Increased circulating IgE level, Ecze... OMIM:304790
Peeling Skin Syndrome 1
Erythroderma, Eosinophilia, Increased circulating IgE level OMIM:270300
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Pneumonia, Panhypogammaglobulinemia, Aplasia of the thymus, B lymphocytopenia, Increased circulat... OMIM:602450
Aspergillosis
Hypersensitivity pneumonitis, Pleuritis, Increased circulating IgE level, Pleural effusion, Bronc... ORPHA:1163
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Increased circulating antibody level, Plasmacytosis, Lymphopenia, Pn... OMIM:247800
Hereditary Folate Malabsorption
Cheilitis, Pancytopenia, Megaloblastic anemia, Decreased circulating antibody level, Thrombocytop... ORPHA:90045
Eosinophilic Fasciitis
Myositis, Abnormal eosinophil morphology, Arthritis, Eosinophilia, Fasciitis ORPHA:3165
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormal macrophage morphology, Abnormality of neutrophils ORPHA:2690
Esophagitis, Eosinophilic, 1
Eosinophilia, Esophagitis OMIM:610247
Esophagitis, Eosinophilic, 2
Eosinophilia, Esophagitis OMIM:613412
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, Decreased circulating to... OMIM:102700
Netherton Syndrome
Increased circulating IgE level, Chronic rhinitis, Eczematoid dermatitis, Decreased circulating I... OMIM:256500
Cinca Syndrome
Anemia, Arthritis, Skin rash, Leukocytosis, Hepatosplenomegaly, Eosinophilia, Uveitis OMIM:607115
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Chronic oral candidiasis, Decreased proportion of CD8-positive T cel... ORPHA:911
Specific Granule Deficiency 1
Recurrent otitis media, Abnormal neutrophil count, Hyposegmentation of neutrophil nuclei, Recurre... OMIM:245480
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
T lymphocytopenia, Recurrent sinusitis, Leukopenia, Lymphopenia, Abnormally low T cell receptor e... OMIM:618986
O'Sullivan-Mcleod Syndrome
Eosinophilia, Increased circulating antibody level ORPHA:99965
Idiopathic Acute Eosinophilic Pneumonia
Abnormal eosinophil morphology, Abnormal pleura morphology ORPHA:724
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Roifman Syndrome
Recurrent otitis media, Decreased circulating antibody level, Eczematoid dermatitis, Recurrent pn... ORPHA:353298
Eosinophil Peroxidase Deficiency
Eosinophil nuclear hypersegmentation OMIM:261500
Immunodeficiency 23
Increased circulating IgG level, Chronic mucocutaneous candidiasis, Increased circulating IgE lev... OMIM:615816
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Pulmonary artery s... OMIM:617237
Immunodeficiency 89 And Autoimmunity
Pleural thickening, Hypochromic microcytic anemia, Recurrent lower respiratory tract infections, ... OMIM:619632
Iga Pemphigus
Increased circulating IgA level, Monoclonal elevation of circulating IgA, Eosinophilia, Pustule, ... ORPHA:555905
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Alpha-Thalassemia Myelodysplasia Syndrome
HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:300448
Immunodeficiency 102
Recurrent sinusitis, Leukopenia, Increased proportion of CD8-positive, alpha-beta TEMRA T cells, ... OMIM:301082
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Myositis, Eosinophilia OMIM:253600
Hemophagocytic Lymphohistiocytosis, Familial, 3
Anemia, Hemophagocytosis, Reduced natural killer cell activity, Hepatosplenomegaly, Granulocytopenia OMIM:608898
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Increased circulating IgG level, Thyroiditis, Increased circulating ... OMIM:617388
Omenn Syndrome
Anemia, Thyroiditis, Abnormal lymphocyte morphology, Erythroderma, Leukocytosis, Splenomegaly, Pn... ORPHA:39041
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent sinusitis, Lymphopenia, Inf... OMIM:301000
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal hemoglobin ORPHA:3319
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Abnormally low T cell receptor excision circle level, Eosinophilia OMIM:618092
Wells Syndrome
Eosinophilia ORPHA:901
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Lymphocytosis, Thyroiditis, Skin rash, Interstitial pneumonitis, Pustule, Infectious... ORPHA:139402
Igg4-Related Aortitis
Increased circulating antibody level, Increased circulating IgE level, Increased circulating IgG4... ORPHA:449400
Omenn Syndrome
Anemia, B lymphocytopenia, Erythroderma, Hypoplasia of the thymus, Severe B lymphocytopenia, Thro... OMIM:603554
Autoinflammation, Immune Dysregulation, And Eosinophilia
Atopic dermatitis, Hepatosplenomegaly, Colonic eosinophilia, Eosinophilia, Membranous nephropathy OMIM:618999
Lymphoproliferative Syndrome, X-Linked, 2
Aplastic anemia, Hemophagocytosis, Pancytopenia, Decreased circulating antibody level, Folliculit... OMIM:300635
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 9
Leukopenia, Leukemia, Pulmonary fibrosis OMIM:620400
Acute Erythroid Leukemia
Anemia, Erythroid hypoplasia, Pancytopenia, Bone marrow hypocellularity, Leukopenia, Monoclonal i... ORPHA:318
Autoimmune Lymphoproliferative Syndrome
Increased circulating antibody level, Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity... ORPHA:3261
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Chronic otitis media, Atelectasis, Skin rash, Increased circulating IgE level, Eczematoid dermati... ORPHA:2314
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Monocytosis, Eczematoid dermatitis, Bone marrow hypocellularity, Leukopen... OMIM:616871
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Decreased circulating antibody level, Abnormal plat... ORPHA:2585
Allergic Bronchopulmonary Aspergillosis
Bronchiectasis, Abnormal eosinophil morphology, Emphysema ORPHA:1164
Cyclic Neutropenia
Perianal abscess, Periodontitis, Lymphopenia, Tooth abscess, Sinusitis, Enterocolitis, Thrombocyt... ORPHA:2686
Roifman Syndrome
Recurrent otitis media, Eczematoid dermatitis, Recurrent pneumonia, Splenomegaly, Eosinophilia OMIM:616651
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Abnormal pulmonary interstitial morphology, Anemia, Hemophagocytosis, Decreased circulating antib... OMIM:613101
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Eosinophilic Gastroenteritis
Anemia, Leukocytosis, Atopic dermatitis, Eosinophilia, Allergic rhinitis ORPHA:2070
Bone Marrow Failure Syndrome 4
Anemia, Decreased circulating antibody level, Eczematoid dermatitis, Bone marrow hypocellularity,... OMIM:618116
Cyanosis, Transient Neonatal
Anemia, Methemoglobinemia, Reticulocytosis OMIM:613977
Cystic Echinococcosis
Increased circulating antibody level, Splenic cyst, Peritoneal abscess, Abnormal subpleural morph... ORPHA:400
Immunodeficiency 81
Autoimmune hemolytic anemia, Decreased proportion of class-switched memory B cells, Abnormally lo... OMIM:619374
Acute Generalized Exanthematous Pustulosis
Cheilitis, Leukocytosis, Predominantly dermal neutrophilic infiltrate, Pustule, Neutrophilia, Con... ORPHA:293173
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic leukemia, Chron... ORPHA:98849
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Anemia, Increased circulating antibody level, Thrombocytopenia, Splenomegaly, Leukopenia, Extrame... OMIM:615285
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Dysgammaglobulinemia, Hemophagocytosis, Recurrent pharyngitis, Pancytopenia, Lym... OMIM:308240
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... ORPHA:251380
Eosinophilic Granulomatosis With Polyangiitis
Myocarditis, Myositis, Arthritis, Skin rash, Nasal polyposis, Sinusitis, Endocarditis, Abnormal p... ORPHA:183
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Autoimmune hemolytic anemia, Recurrent otitis media, Decreased circulating total IgM, Recurrent l... OMIM:620430
Bone Marrow Failure Syndrome 2
Bone marrow hypocellularity, Thrombocytopenia, Anemia, Leukopenia OMIM:615715
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Erythroderma, Eosinophilia, Decreased circulating antibody level, Lymphopenia OMIM:617425
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration OMIM:219750
Alpha-Thalassemia
Anisopoikilocytosis, Congestive heart failure, Hemoglobin Barts, Anemia, Cholelithiasis, Reticulo... ORPHA:846
Combined Oxidative Phosphorylation Deficiency 34
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:617872
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia ORPHA:231401
Igg4-Related Pachymeningitis
Pancreatitis, Parotitis, Lymphadenitis, Sinusitis, Abnormal lung morphology, Nephritis, Increased... ORPHA:449427
Angiostrongyliasis
Increased circulating IgG level, Increased circulating IgA level, Increased circulating IgM level... ORPHA:74
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Decreased serum creatinine, Hyponatremia, Decreased circulating renin level, Reduced blood urea n... OMIM:300539
Lymphoproliferative Syndrome 1
Autoimmune hemolytic anemia, Anemia, Hemophagocytosis, Pancytopenia, Stomatitis, Decreased circul... OMIM:613011
Hb Bart'S Hydrops Fetalis
Congestive heart failure, Anemia, Pericarditis, Abnormal hemoglobin, Splenomegaly ORPHA:163596
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased serum creatinine, Hypocystinemia, Hypohomocysteinemia OMIM:617744
Anemia, Congenital Dyserythropoietic, Type Iv
Reduced hematocrit, Anemia, Anemia of inadequate production, Hypertrophic cardiomyopathy, Reticul... OMIM:613673
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:300946
Coccidioidomycosis
Morbilliform rash, Pneumonia, Pancreatitis, Panniculitis, Increased circulating IgG level, Arthri... ORPHA:228123
Interstitial Nephritis, Karyomegalic
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:614817
Systemic Lupus Erythematosus
Pleuritis, Malar rash, Arthritis, Pericarditis, Nephritis, Thrombocytopenia, Leukopenia, Hemolyti... OMIM:152700
Mucoepithelial Dysplasia, Hereditary
Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Recurrent pneumonia, Pneumonia, Eosinoph... OMIM:158310
Igg4-Related Kidney Disease
Sclerosing cholangitis, Pericarditis, Increased circulating IgG4 level, Cholecystitis, Urinary bl... ORPHA:449395
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Elevated circulating creatinine concentration, Hyperuricemia OMIM:617056
Alveolar Echinococcosis
Liver abscess, Anemia, Cholangitis, Increased circulating antibody level, Abnormal spleen morphol... ORPHA:284
Loeffler Endocarditis
Eosinophilia, Pericarditis ORPHA:75566
Beta-Thalassemia
Anemia, Cholelithiasis, Hypertrophic cardiomyopathy, Thrombocytopenia, Abnormal hemoglobin, Splen... ORPHA:848
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration OMIM:619468
Renal Tubular Acidosis, Distal, 1
Hypocalcemia, Elevated circulating creatinine concentration, Hypokalemia OMIM:179800
Idiopathic Hypereosinophilic Syndrome
Anemia, Cholangitis, Pancreatitis, Arthritis, Myeloproliferative disorder, Leukocytosis, Pleural ... ORPHA:3260
Idiopathic Non-Lupus Full-House Nephropathy
Elevated circulating creatinine concentration ORPHA:567544
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased circulating total IgM, Decreased proportion of CD8-positive T cells, Increased circulat... ORPHA:508533
Renal Tubular Acidosis, Proximal
Elevated circulating creatinine concentration OMIM:179830
Hermansky-Pudlak Syndrome 9
Recurrent skin infections, Thrombocytopenia, Leukopenia, Abnormal platelet aggregation OMIM:614171
Igg4-Related Submandibular Gland Disease
Prostatitis, Increased circulating antibody level, Cholangitis, Increased circulating IgG level, ... ORPHA:449432
Igg4-Related Ophthalmic Disease
Prostatitis, Pancreatitis, Cholangitis, Thyroiditis, Increased circulating IgE level, Neoplasm of... ORPHA:449563
Cerebral Creatine Deficiency Syndrome 2
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration OMIM:612736
Fanconi Renotubular Syndrome 3
Elevated circulating creatinine concentration, Aminoaciduria OMIM:615605
Primary Familial Polycythemia
Polycythemia, Epistaxis, Abnormal hemoglobin ORPHA:90042
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration OMIM:616733
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Macrocytic anemia, Rectal abscess, Reduction of neutrophil motility, Leukocytosis, Neutrophilia, ... OMIM:608203
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion
Hypouricemia OMIM:307830
Coach Syndrome 2
Elevated circulating creatinine concentration OMIM:619111
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Chronic oral candidiasis, Skin rash, Chronic mucocutaneous candidiasis, Pleural empyema, Increase... OMIM:147060
Adenine Phosphoribosyltransferase Deficiency
Elevated circulating creatinine concentration OMIM:614723
Lymphatic Filariasis
Knee osteoarthritis, Lymphadenitis, Abnormal lung morphology, Orchitis, Epididymitis, Hypereosino... ORPHA:2035
Sarcoidosis
Increased T cell count, Leukopenia, Erythema nodosum, Abnormal lung morphology, Abnormal pleura m... ORPHA:797
Hypouricemia, Renal, 1
Hypouricemia, Elevated circulating creatinine concentration OMIM:220150
Osteopetrosis, Autosomal Recessive 9
Hyperkalemia, Elevated circulating creatinine concentration OMIM:620366
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Macrocytic anemia, Hashimoto thyroiditis, Eosinophilia, Hepatitis ORPHA:199299
Diamond-Blackfan Anemia 6
Macrocytic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Patent ductus ... OMIM:612561
Dyskeratosis Congenita, Autosomal Recessive 5
Bone marrow hypocellularity, Decreased circulating antibody level, Leukopenia, Colitis OMIM:615190
Wiskott-Aldrich Syndrome
Chronic otitis media, Abnormal platelet function, Sinusitis, Abnormal platelet morphology, Lympho... ORPHA:906
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612924
C3 Glomerulopathy
Elevated circulating creatinine concentration ORPHA:329918
Sickle Cell Anemia
Ischemic stroke, Chronic hemolytic anemia, Iron deficiency anemia, Cholelithiasis, Increased mean... ORPHA:232
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612926
Bone Marrow Failure Syndrome 6
Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia OMIM:618849
Cryoglobulinemia, Familial Mixed
Elevated circulating creatinine concentration OMIM:123550
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine ORPHA:54057
Incontinentia Pigmenti
Leukocytosis, Keratitis, Eosinophilia, Maculopapular exanthema, Uveitis OMIM:308300
Ziegler-Huang Syndrome
Macrocytic anemia, Anterior pituitary hypoplasia, Persistence of hemoglobin F, Elevated circulati... OMIM:620501
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration OMIM:620138
Acquired Methemoglobinemia
Tachycardia, Arrhythmia, Syncope, Palpitations, Methemoglobinemia ORPHA:464453
Incontinentia Pigmenti
Skin rash, Keratitis, Eosinophilia, Infectious encephalitis, Uveitis ORPHA:464
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612925
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia, Elevated circulating creatinine concentration OMIM:608104
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Elevated circulating creatinine concentration, Hyperuricemia ORPHA:79233
Nephronophthisis 2
Hyperkalemia, Elevated circulating creatinine concentration OMIM:602088
Beta-Thalassemia Intermedia
Hypoparathyroidism, Cholelithiasis, Anemia of inadequate production, Leukocytosis, Pulmonary arte... ORPHA:231222
Thrombocytopenia-Absent Radius Syndrome
Anemia, Seborrheic dermatitis, Decreased circulating antibody level, Leukocytosis, Thrombocytopen... OMIM:274000
Relapsing Fever
Increased total bilirubin, Elevated circulating creatinine concentration, Elevated circulating C-... ORPHA:91547
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated circulating alpha-fetoprotein concentration, Elevated circulating creatinine concentrati... OMIM:613095
Trichothiodystrophy 6, Nonphotosensitive
Brittle hair, Slow-growing hair, Tiger tail banding, Increased HbA2 hemoglobin, Decreased mean co... OMIM:616943
Histidinemia
Elevated urinary N-tau-ribosylhistidine level, Hyperhistidinemia, Histidinuria OMIM:235800
Preeclampsia
Elevated circulating creatinine concentration ORPHA:275555
Dominant Beta-Thalassemia
Hypoparathyroidism, Hypochromic microcytic anemia, Decreased mean corpuscular hemoglobin concentr... ORPHA:231226
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated circulating long chain fatty acid concentration, Elevated circulating creatine kinase co... OMIM:608836
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Elevated circulating creatinine concentration OMIM:614376
Beta-Thalassemia Major
Anisopoikilocytosis, Hypoparathyroidism, Hypochromic microcytic anemia, Decreased mean corpuscula... ORPHA:231214
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Hyperlipidemia OMIM:235400
Diffuse Alveolar Hemorrhage
Elevated circulating creatinine concentration ORPHA:90060
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hyperbilirubinemia, Elevated circulating creatinine concentration ORPHA:542323
Acute Interstitial Pneumonia
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentration ORPHA:79126
Congenital Disorder Of Glycosylation, Type Iit
Decreased serum creatinine, Decreased HDL cholesterol concentration, Hypotriglyceridemia OMIM:618885
Tyrosinosis
Hypertyrosinemia OMIM:276800
Thrombotic Thrombocytopenic Purpura, Hereditary
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:274150
46,Xy Sex Reversal 4
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:154230
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Cryptorchidism, Microcytic anemia, Aplasia/Hypoplasia of the eyebrow ORPHA:98791
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Polycythemia, Methemoglobinemia OMIM:250800
Aapoaiv Amyloidosis
Elevated circulating creatinine concentration, Hyperlipidemia ORPHA:439232
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:223900
Hereditary Amyloidosis With Primary Renal Involvement
Decreased HDL cholesterol concentration, Elevated circulating creatinine concentration, Decreased... ORPHA:85450
Juvenile Nephropathic Cystinosis
Hypokalemia, Hypocalcemia, Hypouricemia, Hyponatremia, Hypophosphatemia, Hypocalcemic tetany, Ele... ORPHA:411634
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Elevated circulating creatinine concentration, Hyperuricemia OMIM:174000
Dopamine Beta-Hydroxylase Deficiency
Increased blood urea nitrogen, Elevated circulating creatinine concentration ORPHA:230
Bacterial Toxic-Shock Syndrome
Hypocalcemia, Hypoalbuminemia, Elevated circulating creatinine concentration, Elevated circulatin... ORPHA:36234
Senior-Loken Syndrome 1
Elevated circulating creatinine concentration OMIM:266900
Bone Marrow Failure Syndrome 3
Aplastic anemia, Nail dystrophy, Hyperechogenic pancreas, Anemia, Acute myeloid leukemia, Pancyto... OMIM:617052
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Elevated circulating creatinine concentration, Reduced haptoglobin level OMIM:301110
Methemoglobinemia And Ambiguous Genitalia
Elevated circulating luteinizing hormone level, Methemoglobinemia OMIM:250790
Viss Syndrome
Pneumothorax, Pulmonary artery aneurysm, Emphysema, Increased circulating IgG level, Chronic gast... OMIM:619472
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Elevated circulating creatinine concentration ORPHA:247691
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F, Patent ductus arteriosus OMIM:619769
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Elevated circulating creatinine concentration, Hypokalemia, Unconjugated hyperbilir... ORPHA:90038
Papillorenal Syndrome
Elevated circulating creatinine concentration OMIM:120330
Igg4-Related Retroperitoneal Fibrosis
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Elevated circulatin... ORPHA:49041
Multiple Myeloma
Elevated circulating creatinine concentration, Hypercalcemia, Hyperproteinemia ORPHA:29073
Oligomeganephronia
Elevated circulating creatinine concentration ORPHA:2260
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F OMIM:617101
Cushing Disease
Decreased eosinophil count, Lymphopenia, Leukocytosis, Acne, Recurrent cutaneous fungal infections ORPHA:96253
Autosomal Dominant Polycystic Kidney Disease
Elevated circulating creatinine concentration ORPHA:730
Diamond-Blackfan Anemia
Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Eryt... ORPHA:124
Lead Poisoning
Abnormal T cell morphology, Hypertension, Imbalanced hemoglobin synthesis, Anemia ORPHA:330015
Structural Heart Defects And Renal Anomalies Syndrome
Elevated circulating creatinine concentration OMIM:617478
Dermatomyositis
Myocarditis, Abnormal pulmonary interstitial morphology, Myositis, Abnormal eosinophil morphology... ORPHA:221
Shwachman-Diamond Syndrome 1
Anemia, Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Thrombocytopenia, Neut... OMIM:260400
Hypomagnesemia 3, Renal
Hypocalcemic seizures, Increased circulating beta-C-terminal telopeptide concentration, Hyperuric... OMIM:248250
Cardiogenic Shock
Elevated circulating creatinine concentration ORPHA:97292
Thymoma
Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Leukemia ORPHA:99867
Diamond-Blackfan Anemia 1
Congestive heart failure, Elevated red cell adenosine deaminase activity, Macrocytic anemia, Incr... OMIM:105650
Tropical Endomyocardial Fibrosis
Eosinophilia, Splenomegaly ORPHA:75565
Hemorrhagic Fever-Renal Syndrome
Hyperkalemia, Elevated circulating creatinine concentration, Hyperphosphatemia ORPHA:340
Marburg Hemorrhagic Fever
Hypokalemia, Hyperamylasemia, Elevated circulating creatine kinase concentration, Hyperammonemia,... ORPHA:99826
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Cryptorchidism, Anemia, Abnormal hemoglobin ORPHA:847
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
HbH hemoglobin, Cryptorchidism, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:301040
Renal Cysts And Diabetes Syndrome
Elevated circulating creatinine concentration, Hyperuricemia OMIM:137920
Pauci-Immune Glomerulonephritis
Elevated circulating creatinine concentration ORPHA:93126
Cushing Syndrome Due To Ectopic Acth Secretion
Small cell lung carcinoma, Decreased eosinophil count, Lymphopenia, Leukocytosis, Acne, Recurrent... ORPHA:99889
Alkaptonuria
Black pigment gallstones, Hypertension, Aortic valve stenosis, Mitral stenosis, Hemolytic anemia,... ORPHA:56
Yellow Fever
Hyperbilirubinemia, Elevated circulating creatinine concentration, Elevated circulating creatine ... ORPHA:99829
Tubulointerstitial Nephritis And Uveitis Syndrome
Elevated circulating creatinine concentration, Aminoaciduria, Elevated circulating C-reactive pro... ORPHA:91500
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hyperbilirubinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Elevated circulating creatini... OMIM:619534

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.

Phenotype Allele Zygosity Sex Life Stage
Mammary gland - MPATH pathological process term hyperplasia Hpsetm1b(EUCOMM)Hmgu HOM Early adult

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 Hpse.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Bone marrow niche-derived extracellular matrix-degrading enzymes influence the progression of B-cell acute lymphoblastic leukemia. Leukemia (January 2020) Hpsetm1a(EUCOMM)Hmgu PMC7266746

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Hpsetm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice, Tissue
Hpsetm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Hpsetm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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