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Gene: Tspan9 MGI:1924558

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Gene Summary

Name:
tetraspanin 9
Synonyms:
6720474K14Rik,  9430079M16Rik

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 total body fat amount Tspan9em1(IMPC)J HOM   Early adult 6.51×10-05
decreased lean body mass Tspan9em1(IMPC)J HOM   Early adult 1.70×10-05
increased grip strength Tspan9em1(IMPC)J HOM Early adult 4.56×10-05

Download data as:  TSV  XLS

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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 Whole Body Lateral Orientation

12 Images

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X-ray

XRay Images Forepaw

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 Dorso Ventral Orientation

12 Images

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X-ray

XRay Images Skull Lateral Orientation

12 Images

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Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

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Human diseases caused by Tspan9 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 Tspan9 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Undritz Anomaly
Hypersegmentation of neutrophil nuclei OMIM:191500
Carbimazole Sensitivity
Drug-induced agranulocytosis OMIM:212060
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormal macrophage morphology, Abnormality of neutrophils ORPHA:2690
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia OMIM:618310
Histiocytosis, Progressive Mucinous
Mucinous histiocytosis OMIM:142630
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Cyclic Neutropenia
Cyclic neutropenia OMIM:162800
Myelolymphatic Insufficiency
Leukopenia, Hyposegmentation of neutrophil nuclei OMIM:310350
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Specific Granule Deficiency 1
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... OMIM:245480
Whim Syndrome 2
Chronic neutropenia OMIM:619407
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Benign Cephalic Histiocytosis
Histiocytosis ORPHA:157997
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Hereditary Progressive Mucinous Histiocytosis
Mucinous histiocytosis ORPHA:158025
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... OMIM:202700
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia ORPHA:90023
Papular Xanthoma
Histiocytosis ORPHA:158008
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Histiocytosis, Familial Lipochrome
Histiocytosis OMIM:235900
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Neutropenia OMIM:616022
Neutropenia, Chronic Familial
Neutropenia OMIM:162700
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Trimethylaminuria
Splenomegaly, Anemia, Neutropenia OMIM:602079
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Neutropenia OMIM:610798
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia ORPHA:494444
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... OMIM:619041
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hemophagocytosis, Granulocytopenia, Anemia, Hepatosplenomegaly OMIM:608898
Fanconi Anemia, Complementation Group G
Thrombocytopenia, Leukemia, Anemia, Neutropenia OMIM:614082
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Neutropenia OMIM:615214
Immunodeficiency 53
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia OMIM:617585
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropenia, Anemia OMIM:615285
Barth Syndrome
Abnormality of neutrophils ORPHA:111
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Thrombocytopenia 5
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... OMIM:616216
Glutathione Synthetase Deficiency
Hemolytic anemia, Neutropenia OMIM:266130
Refractory Anemia
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... ORPHA:98826
Glutamate Formiminotransferase Deficiency
Hypersegmentation of neutrophil nuclei, Megaloblastic anemia OMIM:229100
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia OMIM:612527
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Neutropenia OMIM:610738
Agammaglobulinemia 3, Autosomal Recessive
Neutropenia, Absent circulating B cells, Abnormal T cell morphology OMIM:613501
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Lymphocyt... OMIM:614470
Immunodeficiency 21
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... OMIM:614172
Multicentric Reticulohistiocytosis
Histiocytosis ORPHA:139436
Diamond-Blackfan Anemia 8
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia OMIM:612563
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom... ORPHA:75564
Hemophagocytic Lymphohistiocytosis, Familial, 4
Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia OMIM:603552
Immunodeficiency 46
Neutropenia, Anemia, Intermittent thrombocytopenia OMIM:616740
Transcobalamin Deficiency
Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia ORPHA:859
Ataxia-Pancytopenia Syndrome
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto... OMIM:159550
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Neutropenia OMIM:618752
Sea-Blue Histiocyte Disease
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis OMIM:269600
Spinocerebellar Ataxia, Autosomal Recessive 23
Neutropenia OMIM:616949
Adult Idiopathic Neutropenia
Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia ORPHA:2688
Agammaglobulinemia 4, Autosomal Recessive
Neutropenia, Abnormal T cell morphology OMIM:613502
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Pontocerebellar Hypoplasia, Type 15
Thrombocytopenia, Chronic neutropenia, Anemia OMIM:619302
Dohle Bodies And Leukemia
Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia OMIM:223350
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... ORPHA:2585
Folate Malabsorption, Hereditary
Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia OMIM:229050
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Neutropenia OMIM:617243
Immunodeficiency 67
Liver abscess, Transient neutropenia OMIM:607676
Agammaglobulinemia 10, Autosomal Dominant
Transient neutropenia, Absent circulating B cells OMIM:619707
Immunodeficiency With Hyper-Igm, Type 3
Neutropenia OMIM:606843
Whim Syndrome 1
Neutropenia OMIM:193670
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... OMIM:300835
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, B lymphocytopenia, Intermittent throm... OMIM:150550
Generalized Eruptive Histiocytosis
Leukemia, Hypereosinophilia, Histiocytosis ORPHA:157991
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia OMIM:598500
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia OMIM:616738
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro... ORPHA:86841
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia OMIM:618849
Griscelli Syndrome, Type 2
Hemophagocytosis, Hepatosplenomegaly OMIM:607624
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Slc35A1-Cdg
Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia ORPHA:238459
Familial Isolated Dilated Cardiomyopathy
Abnormality of neutrophils ORPHA:154
Immunodeficiency 108 With Autoinflammation
Hyposegmentation of neutrophil nuclei, Impaired neutrophil chemotaxis OMIM:260570
Hemochromatosis, Type 3
Lymphopenia, Anemia, Neutropenia OMIM:604250
Niemann-Pick Disease, Type B
Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis, Anemia OMIM:607616
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil ... OMIM:619220
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Leukocyte inclusion bodies, Giant platelets, Macrothrombocytopenia, Neutrophil inclusion bodies, ... OMIM:155100
Griscelli Syndrome Type 2
Splenomegaly, Pancytopenia, Hemophagocytosis, Neutropenia ORPHA:79477
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Hemophagocytosis, Neutropenia, Agra... OMIM:301078
Idiopathic Aplastic Anemia
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Thrombocytopenia ORPHA:88
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Acute l... ORPHA:158057
Microcephalic Primordial Dwarfism, Toriello Type
Neutropenia ORPHA:2643
Immunodeficiency 7
Splenomegaly, Autoimmune hemolytic anemia, Hypereosinophilia, Neutropenia OMIM:615387
Megaloblastic Anemia, Folate-Responsive
Episodic hemolytic anemia, Schistocytosis, Folate-responsive megaloblastic anemia, Hypersegmentat... OMIM:601775
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, Impaired neutrophil chemotaxis, Neutropenia, Hepatosplenomegaly, Leukopenia, T lymp... OMIM:618986
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Aplastic anemia, Splenomegaly, Lymphocytosis, Hemophagocytosis, Neutropenia, Thromb... OMIM:308240
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Anemia, Neutropenia OMIM:617056
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased proportion of class-switched memory B cells, B lymphocytopenia, Absent circulating B ce... OMIM:619705
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp... ORPHA:169154
Specific Granule Deficiency 2
Absent neutrophil specific granules, Thrombocytopenia, Anemia, Neutropenia OMIM:617475
Pelger-Huet Anomaly
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ... OMIM:169400
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Thrombocytopenia, Anemia, Neutropenia ORPHA:289916
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... ORPHA:35858
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,... ORPHA:486
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Splenomegaly, Thrombocytopenia, Anemia, Neutropenia ORPHA:79312
3-Methylglutaconic Aciduria, Type Viia
Anisopoikilocytosis, Anemia, Neutropenia OMIM:619835
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Hemophagocytosis, Anemia OMIM:613101
Oslam Syndrome
Increased mean corpuscular volume, Abnormality of neutrophils ORPHA:2760
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Thrombocy... OMIM:617780
Aggressive Systemic Mastocytosis
Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomegaly, Increased propor... ORPHA:98850
Onychotrichodysplasia And Neutropenia
Lymphocytosis, Chronic neutropenia, Neutropenia OMIM:258360
Neonatal Alloimmune Neutropenia
Neutropenia in presence of anti-neutropil antibodies ORPHA:464370
Letterer-Siwe Disease
Thrombocytopenia, Neutropenia, Anemia, Hepatosplenomegaly OMIM:246400
Congenital Disorder Of Glycosylation, Type Iif
Macrothrombocytopenia, Thrombocytopenia, Neutropenia OMIM:603585
Immunodeficiency 102
Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutropil antibodies, Leukopenia, De... OMIM:301082
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis OMIM:619281
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... OMIM:619802
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Decreased proportion of CD4-p... ORPHA:101096
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p... OMIM:601859
Lymphoproliferative Syndrome, X-Linked, 2
Splenomegaly, Pancytopenia, Aplastic anemia, Hemophagocytosis OMIM:300635
Macrophage Activation Syndrome
Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Abnormal natural killer cell count, Thromboc... ORPHA:158061
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Autoimmune thrombocytopenia, Anemia, Coombs-positive hemolytic anemia, Neutropenia,... OMIM:304790
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Cutaneous abscess, Lymphopenia, Reduced natural killer cell count, Neutropenia OMIM:619752
Immunodeficiency 32B
Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Monocytopenia, Thromb... OMIM:226990
Developmental And Epileptic Encephalopathy 66
Anemia, Neutropenia OMIM:618067
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Anemia, Leukopenia, Thrombocytopenia ORPHA:507
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Splenomegaly, Pancytopenia, Hemophagocytosis, Anemia OMIM:618398
Autoinflammatory-Pancytopenia Syndrome
Pancytopenia, Granuloma, Hemophagocytosis, Hepatosplenomegaly OMIM:619858
Immunodeficiency By Defective Expression Of Mhc Class Ii
Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormal CD4:CD8 ratio, N... ORPHA:572
Evans Syndrome
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Autoimmune thr... ORPHA:1959
Myh9-Related Disease
Giant platelets, Neutrophil inclusion bodies, Congenital thrombocytopenia, Increased mean platele... ORPHA:182050
Developmental Delay, Hypotonia, And Impaired Language
Neutropenia OMIM:620012
Neonatal Lupus Erythematosus
Hemolytic anemia, Pancytopenia, Aplastic anemia, Splenomegaly, Anemia, Neutropenia, Thrombocytopenia ORPHA:398124
Combined Oxidative Phosphorylation Deficiency 18
Macrocytic anemia, Hypersegmentation of neutrophil nuclei OMIM:615578
Immunodeficiency 27A
Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia, Histiocytosis OMIM:209950
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Thrombocytopenia, Splenomegaly, Neutropenia, Leukopeni... OMIM:214500
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Lymphopenia, Neutropenia OMIM:614868
Sea-Blue Histiocytosis
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis ORPHA:158029
Congenital Enterovirus Infection
Abnormal macrophage morphology, Leukocytosis, Anemia, Leukopenia, Neutropenia, Thrombocytopenia ORPHA:292
Transcobalamin Ii Deficiency
Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia OMIM:275350
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Thrombocytopenia, Anemia, Neutropenia OMIM:614520
Immunodeficiency, Common Variable, 1
Splenomegaly, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Decreased ... OMIM:607594
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Normochromic anemia, Thrombocytopenia, Neutropenia OMIM:614857
Diamond-Blackfan Anemia 11
Anemia of inadequate production, Neutropenia OMIM:614900
Propionic Acidemia
Thrombocytopenia, Pancytopenia, Anemia, Neutropenia OMIM:606054
Acrokeratoelastoidosis Of Costa
Granulomatosis ORPHA:38
Autoinflammatory Disease, Systemic, X-Linked
Neutropenia, B lymphocytopenia, Hepatosplenomegaly OMIM:301081
Reticular Dysgenesis
Anemia, Leukopenia, Abnormality of neutrophils ORPHA:33355
Cyclic Neutropenia
Cyclic neutropenia, Perianal abscess, Decreased eosinophil count, Lymphopenia, Tooth abscess, Thr... ORPHA:2686
Congenital Disorder Of Glycosylation, Type Iic
Neutrophilia, Reduction of neutrophil motility OMIM:266265
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Leukopenia, Thrombocytopenia, Neutropenia OMIM:251000
Barth Syndrome
Cyclic neutropenia, Granulocytopenia, Hypochromic microcytic anemia, Neutropenia OMIM:302060
Hemophagocytic Syndrome Associated With An Infection
Pancytopenia, Splenomegaly, Abnormal T cell subset distribution, Anemia, Hemophagocytosis, Neutro... ORPHA:158048
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Thrombocytopenia, Anemia, Neutropenia ORPHA:47
Acute Promyelocytic Leukemia
Pancytopenia, Leukocytosis, Anemia, Leukopenia, Neutropenia, Thrombocytopenia ORPHA:520
Acute Generalized Exanthematous Pustulosis
Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia ORPHA:293173
Felty Syndrome
Splenomegaly, Anemia, Neutropenia, Abnormal lymphocyte morphology, Thrombocytopenia ORPHA:47612
Methylcobalamin Deficiency Type Cble
Macrocytic anemia, Increased mean corpuscular volume, Pancytopenia, Neutropenia ORPHA:2169
Mitochondrial Complex I Deficiency, Nuclear Type 33
Neutropenia OMIM:618253
Methylmalonic Aciduria, Cblb Type
Thrombocytopenia, Pancytopenia, Anemia, Neutropenia OMIM:251110
Pgm3-Cdg
Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Abnormal CD4:CD8 rat... ORPHA:443811
Dyskeratosis Congenita, Autosomal Dominant 2
Pancytopenia, Aplastic anemia, Leukopenia, Neutropenia, Thrombocytopenia OMIM:613989
Immunodeficiency 55
Absent natural killer cells, Lymphopenia, Neutropenia OMIM:617827
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p... OMIM:603909
Autosomal Agammaglobulinemia
Neutropenia ORPHA:33110
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Hemophagocytosis, Hepatosplenomegaly ORPHA:86884
Familial Hemophagocytic Lymphohistiocytosis
Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia ORPHA:540
Lymphoproliferative Syndrome 2
Pancytopenia, Aplastic anemia, Splenomegaly, Hepatosplenomegaly, Hemophagocytosis OMIM:615122
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Hepatosplenomegaly, Monocytosis, Hemophagocytosis, Thrombocytopenia OMIM:619644
Cohen Syndrome
Leukopenia, Neutropenia OMIM:216550
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Abnormal macrophage morphology ORPHA:353
Trichothiodystrophy 3, Photosensitive
Lymphopenia, Neutropenia OMIM:616395
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Abnormality of neutrophils, Thrombocytopenia, Abnormal lym... ORPHA:229717
Necrotizing Enterocolitis
Leukocytosis, Thrombocytopenia, Neutropenia ORPHA:391673
Schimke Immunoosseous Dysplasia
Pancytopenia, Abnormal T cell morphology, Anemia, Neutropenia, Lymphopenia, Thrombocytopenia OMIM:242900
3-Methylglutaconic Aciduria Type 7
Infection associated neutropenia, Neutropenia ORPHA:445038
Agammaglobulinemia 1, Autosomal Recessive
B lymphocytopenia, Rectal abscess, Neutropenia OMIM:601495
Fanconi Anemia, Complementation Group E
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia OMIM:600901
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Neutropenia, Lymphopenia, Anemia ORPHA:508542
Immunodeficiency 23
Hemolytic anemia, Eosinophilia, Abscess, Neutropenia, Lymphopenia OMIM:615816
Kasabach-Merritt Syndrome
Reticulocytosis, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic anemia, Neutropenia, An... ORPHA:2330
Deafness-Lymphedema-Leukemia Syndrome
Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Myeloproliferative disorde... ORPHA:3226
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy... OMIM:260400
Diamond-Blackfan Anemia 7
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia OMIM:612562
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Pancytopenia, Megaloblastic anemia, Anemia, Neutropenia, Thrombocytopenia OMIM:277380
Cartilage-Hair Hypoplasia
Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Congenital hypopla... OMIM:250250
Aspergillosis
Eosinophilia, Neutropenia ORPHA:1163
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropenia, Autoimmune thrombocytopenia, Sple... OMIM:614700
Schimke Immuno-Osseous Dysplasia
Thrombocytopenia, Decreased proportion of naive CD8 T cells, Abnormal proportion of naive CD4 T c... ORPHA:1830
Methylmalonic Aciduria, Cbla Type
Thrombocytopenia, Pancytopenia, Anemia, Neutropenia OMIM:251100
Niemann-Pick Disease, Type A
Splenomegaly, Sea-blue histiocytosis, Bone-marrow foam cells, Microcytic anemia OMIM:257200
Shwachman-Diamond Syndrome
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane... ORPHA:811
Fanconi Anemia, Complementation Group A
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia OMIM:227650
Hermansky-Pudlak Syndrome 2
Absent platelet dense granules, Decreased CD4:CD8 ratio, Splenomegaly, Hepatosplenomegaly, Enlarg... OMIM:608233
Bare Lymphocyte Syndrome, Type Ii
Neutropenia OMIM:209920
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombocytopenia, Splenome... OMIM:612541
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi... OMIM:617052
Fanconi Anemia, Complementation Group I
Neutropenia OMIM:609053
Wolcott-Rallison Syndrome
Iron deficiency anemia, Lymphocytosis, Neutropenia ORPHA:1667
Mucopolysaccharidosis-Plus Syndrome
Splenomegaly, Anemia, Leukopenia, Neutropenia, Thrombocytopenia OMIM:617303
Hermansky-Pudlak Syndrome 10
Splenomegaly, Neutropenia OMIM:617050
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Neutropenia, Microcytic anemia OMIM:251900
Chédiak-Higashi Syndrome
Abnormal leukocyte morphology, Pancytopenia, Thrombocytopenia, Splenomegaly, Vacuolated lymphocyt... ORPHA:167
Immunodeficiency With Hyper-Igm, Type 1
Splenomegaly, Hemolytic anemia, Thrombocytopenia, Neutropenia OMIM:308230
Poikiloderma With Neutropenia
Splenomegaly, Leukopenia, Neutropenia OMIM:604173
3-Methylglutaconic Aciduria, Type Viib
Leukopenia, Thrombocytopenia, Neutropenia OMIM:616271
Methylmalonic Acidemia With Homocystinuria Type Cblf
Neutropenia, Megaloblastic anemia ORPHA:79284
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Neutrophilia, Liver abscess, Anemia ORPHA:54251
Shwachman-Diamond Syndrome 2
Normocytic anemia, Thrombocytopenia, Neutropenia OMIM:617941
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Hepatosplenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibo... OMIM:615952
Fanconi Anemia, Complementation Group C
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia OMIM:227645
Sepsis In Premature Infants
Splenomegaly, Leukocytosis, Anemia, Neutropenia, Thrombocytopenia ORPHA:90051
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Pancytopenia, Thrombocytopenia, Reticulocytopenia, Neutropenia, Hypoplastic... OMIM:557000
Saul-Wilson Syndrome
Neutropenia OMIM:618150
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... ORPHA:98849
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Neutropenia OMIM:615471
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Neutropenia OMIM:618005
Diamond-Blackfan Anemia
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten... ORPHA:124
Fusariosis
Brain abscess, Lung abscess, Abnormality of the spleen, Granuloma, Neutropenia, Lymphopenia ORPHA:228119
Spondyloenchondrodysplasia With Immune Dysregulation
T lymphocytopenia, Lymphopenia, Autoimmune thrombocytopenia, Neutropenia OMIM:607944
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Neutropenia in presence o... ORPHA:37042
Wiskott-Aldrich Syndrome
Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le... ORPHA:906
Whim Syndrome
Lymphopenia, Abnormal neutrophil morphology, Neutropenia ORPHA:51636
Psoriasis 14, Pustular
Leukocytosis, Neutrophilia OMIM:614204
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Ne... OMIM:613179
Relapsing Fever
Neutrophilia, Leukocytosis, Anemia, Leukopenia, Thrombocytopenia ORPHA:91547
1Q41Q42 Microdeletion Syndrome
Hyposegmentation of neutrophil nuclei ORPHA:250999
Niemann-Pick Disease, Type C1
Splenomegaly, Sea-blue histiocytosis, Bone-marrow foam cells OMIM:257220
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Neutropenia, Thrombocytopenia, Megaloblastic anemia OMIM:277400
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Hyposegmentation of neutrophil nuclei OMIM:620075
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Ne... ORPHA:436159
Icf Syndrome
Anemia, Lymphopenia, Abnormality of neutrophils ORPHA:2268
Agammaglobulinemia, X-Linked
T lymphocytopenia, B lymphocytopenia, Anemia, Neutropenia OMIM:300755
Fanconi Anemia, Complementation Group D2
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia OMIM:227646
Hemophagocytic Lymphohistiocytosis, Familial, 1
Splenomegaly, Anemia, Leukopenia, Hemophagocytosis, Thrombocytopenia OMIM:267700
Cinca Syndrome
Abnormality of neutrophils, Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Anemia ORPHA:1451
Hemophagocytic Lymphohistiocytosis, Familial, 2
Pancytopenia, Splenomegaly, Hepatosplenomegaly, Anemia, Leukopenia, Hemophagocytosis, Thrombocyto... OMIM:603553
Griscelli Syndrome
Splenomegaly, Leukopenia, Thrombocytopenia, Abnormality of neutrophils ORPHA:381
Cryptogenic Organizing Pneumonia
Leukocytosis, Neutrophilia ORPHA:1302
Leigh Syndrome
Anemia, Neutropenia ORPHA:506
Vici Syndrome
Leukopenia, T lymphocytopenia, Neutropenia, Decreased proportion of CD4-positive helper T cells, ... OMIM:242840
Cohen Syndrome
Neutropenia ORPHA:193
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Liver abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis, Rectal abscess OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Liver abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis, Rectal abscess OMIM:233710
Khan-Khan-Katsanis Syndrome
Lymphopenia, Anemia, Neutropenia OMIM:618460
Glycogen Storage Disease Ib
Splenomegaly, Neutropenia OMIM:232220
Toxic Epidermal Necrolysis
Thrombocytopenia, Anemia, Neutropenia ORPHA:537
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Liver abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis, Rectal abscess OMIM:233690
Trichothiodystrophy
Increased mean corpuscular hemoglobin concentration, Anemia, Neutropenia ORPHA:33364
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells OMIM:617099
Rothmund-Thomson Syndrome
Leukemia, Aplastic anemia, Anemia, Neutropenia ORPHA:2909
Herpes Simplex Virus Encephalitis
Leukocytosis, Neutrophilia ORPHA:1930
Diamond-Blackfan Anemia 1
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... OMIM:105650
Rothmund-Thomson Syndrome Type 1
Leukemia, Aplastic anemia, Anemia, Neutropenia ORPHA:221008
Niemann-Pick Disease, Type C2
Splenomegaly, Sea-blue histiocytosis, Bone-marrow foam cells OMIM:607625
Intellectual Developmental Disorder, Autosomal Dominant 54
Neutropenia OMIM:617799
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Hyposegmentation of neutrophil nuclei OMIM:614800
Pediatric-Onset Graves Disease
Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Thrombocytopenia ORPHA:525731
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Neutropenia, Thrombocytopenia, Megaloblastic anemia ORPHA:79282
Adult-Onset Still Disease
Splenomegaly, Leukocytosis, Neutrophilia ORPHA:829
Rothmund-Thomson Syndrome Type 2
Leukemia, Aplastic anemia, Anemia, Neutropenia ORPHA:221016
Gm1-Gangliosidosis, Type Ii
Splenomegaly, Sea-blue histiocytosis OMIM:230600
Hermansky-Pudlak Syndrome
Neutropenia ORPHA:79430
Cartilage-Hair Hypoplasia
Anemia, Neutropenia ORPHA:175
Pneumocystosis
Abnormal neutrophil count ORPHA:723
Staphylococcal Necrotizing Pneumonia
Leukopenia, Leukocytosis, Neutrophilia ORPHA:36238
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Neutropenia OMIM:271510
X-Linked Intellectual Disability, Nascimento Type
Recurrent cutaneous abscess formation, Neutropenia ORPHA:163956
Autoimmune Lymphoproliferative Syndrome
Reticulocytosis, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Hyperspl... ORPHA:3261
Pearson Syndrome
Reticulocytosis, Pancytopenia, Splenomegaly, Anemia, Neutropenia, Hypoplastic spleen, Thrombocyto... ORPHA:699
Kikuchi-Fujimoto Disease
Splenomegaly, Anemia, Leukopenia, Lymphocytosis, Neutropenia, Thrombocytopenia ORPHA:50918
Granulomatous Disease, Chronic, X-Linked
Liver abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis, Granuloma, Rectal abscess OMIM:306400
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Splenomegaly, Neutrophilia, Abscess OMIM:612852
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Hypersplenism, Pancytopenia, Neutropenia in presence of anti-neutropil antibodies, Hepatosplenome... ORPHA:228426
Chronic Granulomatous Disease
Splenomegaly, Liver abscess, Abnormality of neutrophils ORPHA:379
Oculocerebral Hypopigmentation Syndrome, Preus Type
Abnormality of neutrophils, Hypochromic anemia ORPHA:2720
Selective Igm Deficiency
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Decreased proportion o... ORPHA:331235
Graft Versus Host Disease
Hemophagocytosis, Hepatosplenomegaly ORPHA:39812
3-Methylglutaconic Aciduria, Type Viii
Neutropenia OMIM:617248
Glycogen Storage Disease Ic
Cyclic neutropenia OMIM:232240
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Abnormal myeloid leukocyte morphology, Chronic neutropenia, Anemia ORPHA:79259
Sweet Syndrome
Acute myeloid leukemia, Neutrophilia, Leukocytosis, Chronic lymphatic leukemia, Anemia, Sterile a... ORPHA:3243
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Transient neutropenia, Chronic neutropenia ORPHA:500095
Zygomycosis
Brain abscess, Splenic abscess, Neutropenia ORPHA:73263
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop... ORPHA:391487
Lysinuric Protein Intolerance
Splenomegaly, Anemia, Leukopenia, Hemophagocytosis, Thrombocytopenia OMIM:222700
Thauvin-Robinet-Faivre Syndrome
Transient neutropenia OMIM:617107
H Syndrome
Hepatosplenomegaly, Histiocytosis, Microcytic anemia ORPHA:168569
Autoimmune Polyendocrinopathy Type 4
Macrocytic anemia, Autoimmune thrombocytopenia, Leukopenia, Aplasia/Hypoplasia of the spleen, Non... ORPHA:227990
Autoimmune Polyendocrinopathy Type 3
Macrocytic anemia, Autoimmune thrombocytopenia, Leukopenia, Aplasia/Hypoplasia of the spleen, Non... ORPHA:227982
Listeriosis
Brain abscess, Liver abscess, Abscess, Abnormal cellular immune system morphology, Hepatic granul... ORPHA:533
Granulomatosis With Polyangiitis
Granulomatosis OMIM:608710
Waldenström Macroglobulinemia
Normocytic anemia, Splenomegaly, Leukemia, Abnormality of neutrophils ORPHA:33226
Hyper-Igd Syndrome
Splenomegaly, Leukocytosis, Neutrophilia, Hepatosplenomegaly OMIM:260920
Histiocytosis-Lymphadenopathy Plus Syndrome
Splenomegaly, Histiocytosis, Hepatosplenomegaly OMIM:602782
Aspartylglucosaminuria
Vacuolated lymphocytes, Neutropenia OMIM:208400
Familial Mediterranean Fever
Splenomegaly, Leukocytosis, Neutrophilia OMIM:249100
Primary Sclerosing Cholangitis
Splenomegaly, Histiocytosis, Abnormal eosinophil morphology, Hepatosplenomegaly ORPHA:171
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Anemia, Neutropenia ORPHA:95455
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Hyposegmentation of neutrophil nuclei OMIM:618019
Stevens-Johnson Syndrome
Anemia, Thrombocytopenia, Abnormality of neutrophils ORPHA:36426
Sponastrime Dysplasia
Neutropenia ORPHA:93357
Lysinuric Protein Intolerance
Hepatosplenomegaly, Anemia, Leukopenia, Hemophagocytosis, Thrombocytopenia ORPHA:470
Pauci-Immune Glomerulonephritis
Granulomatosis ORPHA:93126
Granulomatosis With Polyangiitis
Granulomatosis ORPHA:900

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 Tspan9

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 Tspan9.

No publications found that use IMPC mice or data for Tspan9.

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
Tspan9em1(IMPC)J Exon Deletion Mice
Tspan9tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Tspan9tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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