Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
proteasome (prosome, macropain) subunit, beta type 9 (large multifunctional peptidase 2)
Synonyms:
Lmp-2,  Lmp2

IMPC Data Collections

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

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.

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 Psmb9 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.

The table below shows human diseases associated to Psmb9 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Myositis, Anemia, Recurrent infections, Splenomegaly, Lymphopenia, Flexion contract... OMIM:617591

The table below shows human diseases predicted to be associated to Psmb9 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency 79
Recurrent upper respiratory tract infections, Recurrent otitis media, Disseminated cutaneous wart... OMIM:619238
Immunodeficiency 15A
Recurrent otitis media, Chronic mucocutaneous candidiasis, Decreased proportion of CD4-positive h... OMIM:618204
Immunodeficiency 18
Recurrent otitis media, Decreased proportion of CD3-positive T cells, Lymphopenia, Recurrent resp... OMIM:615615
Immunodeficiency 17
Recurrent otitis media, Decreased proportion of CD8-positive T cells, Recurrent respiratory infec... OMIM:615607
Cd8 Deficiency, Familial
Recurrent bacterial infections, Recurrent viral infections, Recurrent respiratory infections, Abs... OMIM:608957
Hereditary Leiomyomatosis And Renal Cell Cancer
Uterine leiomyoma, Renal cell carcinoma, Uterine leiomyosarcoma, Cutaneous leiomyosarcoma, Cutane... OMIM:150800
Li-Fraumeni Syndrome
Ovarian neoplasm, Acute lymphoblastic leukemia, Astrocytoma, Thyroid carcinoma, Choriocarcinoma, ... ORPHA:524
Birt-Hogg-Dube Syndrome
Fibrofolliculoma, Renal cell carcinoma, Large intestinal polyposis, Cutaneous leiomyosarcoma, Col... OMIM:135150
Immunodeficiency 24
Severe varicella zoster infection, Lymphoproliferative disorder, Recurrent viral infections, Pers... OMIM:615897
Combined Immunodeficiency, X-Linked
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:312863
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Recurrent infections, Decreased proportion of CD8-positive T cells OMIM:614493
Colorectal Cancer
Transitional cell carcinoma of the bladder, Neoplasm of the stomach, Hereditary nonpolyposis colo... OMIM:114500
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Chronic active Epstein-Barr virus infection, Severe varicella zoster infection, Hodgkin lymphoma,... OMIM:300853
Pleuropulmonary Blastoma
Medulloblastoma, Rhabdomyosarcoma, Pleuropulmonary blastoma OMIM:601200
Myofibromatosis, Infantile, 1
Fibroma, Myofibromatosis OMIM:228550
Mismatch Repair Cancer Syndrome 1
Neuroblastoma, Astrocytoma, Plexiform neurofibroma, Adenocarcinoma of the small intestine, Adenom... OMIM:276300
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Recurrent oppo... ORPHA:911
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neutropenia, Recurrent viral infections, Recurrent infections, Recurrent lower respiratory tract ... ORPHA:169154
Epidermodysplasia Verruciformis, Susceptibility To, 5
Persistent human papillomavirus infection, Verrucae, Squamous cell carcinoma of the skin, Cryptoc... OMIM:618309
Carney Triad
Adrenocortical adenoma, Gastrointestinal stroma tumor, Anemia, Leiomyosarcoma, Paraganglioma, Phe... ORPHA:139411
Retinoblastoma
Rhabdomyosarcoma, Leukemia, Leiomyosarcoma, Lymphoma, Ewing sarcoma, Osteosarcoma, Retinoblastoma... ORPHA:790
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent bacterial infections, T lymphocytopenia, Recurrent candida infections OMIM:242870
Cerebral Sarcoma
Fibrosarcoma, Neoplasm OMIM:117600
Selective Igm Deficiency
Sepsis, Thyroid carcinoma, Severe varicella zoster infection, Recurrent herpes, Neutropenia in pr... ORPHA:331235
Rhabdomyosarcoma, Embryonal, 1
Embryonal rhabdomyosarcoma OMIM:268210
Rhabdomyosarcoma 2
Alveolar rhabdomyosarcoma OMIM:268220
Rhabdomyosarcoma, Embryonal, 2
Ovarian thecoma, Embryonal rhabdomyosarcoma, Nephroblastoma, Pleuropulmonary blastoma OMIM:180295
Familial Multinodular Goiter
Colorectal polyposis, Ovarian neoplasm, Testicular seminoma, Thyroid carcinoma, Sertoli cell neop... ORPHA:276399
Li-Fraumeni Syndrome
Adrenocortical carcinoma, Prostate neoplasm, Choriocarcinoma, Acute leukemia, Lung adenocarcinoma... OMIM:151623
Hereditary Leiomyomatosis And Renal Cell Cancer
Esophageal neoplasm, Uterine leiomyoma, Multiple cutaneous leiomyomas, Uterine leiomyosarcoma, Va... ORPHA:523
Large Congenital Melanocytic Nevus
Cutaneous melanoma, Neoplasm of the skin, Rhabdomyosarcoma, Neoplasm, Sarcoma ORPHA:626
Rhabdoid Tumor Predisposition Syndrome 2
Neoplasm of the central nervous system, Carcinoma OMIM:613325
Immunodeficiency 13
B lymphocytopenia, Recurrent otitis media, Recurrent upper respiratory tract infections, Recurren... OMIM:615518
Combined Immunodeficiency Due To Dock8 Deficiency
B lymphocytopenia, Anal canal squamous carcinoma, Verrucae, Recurrent viral infections, Onychomyc... ORPHA:217390
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis, Carcinoma OMIM:615083
Nijmegen Breakage Syndrome
Recurrent infection of the gastrointestinal tract, B lymphocytopenia, Rhabdomyosarcoma, Recurrent... OMIM:251260
Beckwith-Wiedemann Syndrome
Hepatomegaly, Neuroblastoma, Adrenocortical carcinoma, Rhabdomyosarcoma, Gonadoblastoma, Macroglo... ORPHA:116
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, Recurrent respiratory infections, T lymphocytopenia OMIM:233650
Melanoma-Pancreatic Cancer Syndrome
Pancreatic squamous cell carcinoma, Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcin... OMIM:606719
Immunodeficiency 76
B lymphocytopenia, Splenomegaly, B-cell lymphoma, Recurrent pneumonia, Lymphopenia, Recurrent bro... OMIM:619164
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent bacterial infections, Hepatomegaly, Sepsis, Decreased proportion of naive T cells, Recu... ORPHA:276
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Hypersplenism, Decreased helper T cell proportion, Splenomegaly OMIM:183350
Progressive Multifocal Leukoencephalopathy
Abnormal proportion of CD4-positive T cells, Limb muscle weakness, Meningitis, Decreased proporti... ORPHA:217260
Tumor Predisposition Syndrome
Cutaneous melanoma, Meningioma, Lung adenocarcinoma, Renal cell carcinoma, Uveal melanoma OMIM:614327
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Hypoplasia of the thymus, Decreased proportion of CD4-positive helper T cells, Decreased proporti... OMIM:617241
Nut Midline Carcinoma
Neuroblastoma, Pancreatic squamous cell carcinoma, Leukemia, Oropharyngeal squamous cell carcinom... ORPHA:443167
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Lichen Sclerosus Et Atrophicus
Squamous cell carcinoma, Carcinoma OMIM:151590
Nijmegen Breakage Syndrome
Skeletal muscle atrophy, Rhabdomyosarcoma, Acute leukemia, Recurrent sinopulmonary infections, Ne... ORPHA:647
Lung Cancer
Non-small cell lung carcinoma, Alveolar cell carcinoma, Lung adenocarcinoma OMIM:211980
Undifferentiated Pleomorphic Sarcoma
Soft tissue sarcoma ORPHA:2023
Immunodeficiency By Defective Expression Of Mhc Class Ii
Abnormal CD4:CD8 ratio, Recurrent bacterial infections, Recurrent infection of the gastrointestin... ORPHA:572
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells OMIM:611926
Neurofibromatosis, Type I
Pheochromocytoma, Astrocytoma, Plexiform neurofibroma, Meningioma, Rhabdomyosarcoma, Spinal neuro... OMIM:162200
Epidermal Nevus Syndrome
Spinal cord tumor, Lipoma, Weakness of long finger extensor muscles, Rhabdomyosarcoma ORPHA:35125
Dermatofibrosarcoma Protuberans
Fibrosarcoma, Neoplasm of the skin ORPHA:31112
Wiskott-Aldrich Syndrome
Absent microvilli on the surface of peripheral blood lymphocytes, Sepsis, Impaired lymphocyte tra... OMIM:301000
Lymphoproliferative Syndrome 1
Hepatomegaly, Hodgkin lymphoma, Leukopenia, Lymphoproliferative disorder, Anemia, Recurrent infec... OMIM:613011
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent bacterial infections, Recurrent opportunistic infections, Verrucae, Recurrent viral inf... ORPHA:275
Monosomy 9Q22.3
Odontogenic keratocysts of the jaw, Rhabdomyosarcoma, Basal cell carcinoma, Cardiac fibroma, Ovar... ORPHA:77301
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Abscess, Chronic oral candidiasis, Recurr... OMIM:150550
Muir-Torre Syndrome
Sebaceous gland carcinoma, Malignant genitourinary tract tumor, Benign gastrointestinal tract tum... OMIM:158320
Mosaic Variegated Aneuploidy Syndrome
Acute lymphoblastic leukemia, Myelodysplasia, Stomach cancer, Rhabdomyosarcoma, Neoplasm, Muscula... ORPHA:1052
Apc-Related Attenuated Familial Adenomatous Polyposis
Astrocytoma, Adenomatous colonic polyposis, Multiple gastric polyps, Papillary thyroid carcinoma,... ORPHA:247806
Immunodeficiency 70
Verrucae, B lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Recurrent sinus... OMIM:618969
Mosaic Variegated Aneuploidy Syndrome 1
Leukemia, Nephroblastoma, Rhabdomyosarcoma OMIM:257300
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Hepatomegaly, Capillary hemangioma, Hypereosinophilia, Decreased proportion of CD4-positive helpe... ORPHA:508533
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Recurrent bacterial infections, Hepatomegaly, Abnormal B cell count, Recurrent fungal infections,... ORPHA:331206
Gardner Syndrome
Astrocytoma, Adenomatous colonic polyposis, Small intestine carcinoid, Brain neoplasm, Papillary ... ORPHA:79665
Familial Adenomatous Polyposis 1
Adrenocortical carcinoma, Osteoma, Astrocytoma, Adrenocortical adenoma, Adenomatous colonic polyp... OMIM:175100
17Q11 Microdeletion Syndrome
Pheochromocytoma, Myelodysplasia, Gastrointestinal stroma tumor, Rhabdomyosarcoma, Plexiform neur... ORPHA:97685
Pgm3-Cdg
Sepsis, Neutropenia, Neutropenia in presence of anti-neutropil antibodies, Recurrent infections, ... ORPHA:443811
Burkitt Lymphoma
Abnormality of the liver, Abnormality of the spleen, Neoplasm of the oral cavity, Decreased propo... ORPHA:543
Immunodeficiency 85 And Autoimmunity
Reduced natural killer cell count, Decreased proportion of CD4-positive helper T cells, Lymphopen... OMIM:619510
Colorectal Cancer, Susceptibility To, 10
Endometrial carcinoma, Colorectal polyposis, Carcinoma OMIM:612591
Hemophagocytic Syndrome Associated With An Infection
Hepatomegaly, Chronic active Epstein-Barr virus infection, Neutropenia, Pancytopenia, Anemia, Spl... ORPHA:158048
Immunodeficiency 22
Recurrent respiratory infections, Decreased proportion of CD4-positive helper T cells OMIM:615758
Attenuated Familial Adenomatous Polyposis
Colorectal polyposis, Rectal polyposis, Astrocytoma, Neoplasm of the stomach, Adenomatous colonic... ORPHA:220460
Familial Adenomatous Polyposis
Neoplasm of the gallbladder, Astrocytoma, Neoplasm of the adrenal gland, Cholangiocarcinoma, Aden... ORPHA:733
Bloom Syndrome
Neoplasm of the skin, Acute lymphoblastic leukemia, Severe varicella zoster infection, Recurrent ... ORPHA:125
Autoimmune Lymphoproliferative Syndrome
Neoplasm of the skin, Thyroid carcinoma, Elevated proportion of CD4-negative, CD8-negative, alpha... ORPHA:3261
Turcot Syndrome With Polyposis
Astrocytoma, Thyroid carcinoma, Adenomatous colonic polyposis, Leukemia, Brain neoplasm, Basal ce... ORPHA:99818
Costello Syndrome
Bladder carcinoma, Vestibular Schwannoma, Rhabdomyosarcoma, Macroglossia, Achilles tendon contrac... OMIM:218040
Ataxia-Telangiectasia
Hodgkin lymphoma, Recurrent bronchitis, Leukemia, Hypoplasia of the thymus, Lymphoma, Decreased p... OMIM:208900
Aregenerative Anemia
Neutropenia, Abnormal proportion of CD8-positive T cells, Erythroid hypoplasia, Decreased proport... ORPHA:101096
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Myositis, Anemia, Recurrent infections, Splenomegaly, Lymphopenia, Flexion contract... OMIM:617591

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 Psmb9

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 Psmb9.

No publications found that use IMPC mice or data for Psmb9.

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MGI Allele Allele Type Produced
Psmb9tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Psmb9tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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