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Gene: Psmb9 MGI:1346526

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

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 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
Elevated hepatic transaminase, Hepatomegaly, Myositis, Splenomegaly, Flexion contracture, Recurre... 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
Decreased proportion of CD4-positive T cells, Recurrent upper respiratory tract infections, Recur... OMIM:619238
Immunodeficiency 15A
Recurrent respiratory infections, Decreased proportion of CD8-positive T cells, Chronic mucocutan... OMIM:618204
Immunodeficiency 18
Recurrent respiratory infections, Recurrent gastroenteritis, Recurrent otitis media, Decreased pr... OMIM:615615
Cd8 Deficiency, Familial
Absence of CD8-positive T cells, Recurrent respiratory infections, Recurrent bacterial infections... OMIM:608957
Hereditary Leiomyomatosis And Renal Cell Cancer
Cutaneous leiomyosarcoma, Multiple cutaneous leiomyomas, Uterine leiomyoma, Uterine leiomyosarcom... OMIM:150800
Immunodeficiency 48
Recurrent respiratory infections, Hepatomegaly, Absence of CD8-positive T cells, Splenomegaly, Re... OMIM:269840
Immunodeficiency 24
Lymphoproliferative disorder, Decreased CD4:CD8 ratio, Recurrent viral infections, Severe varicel... OMIM:615897
Combined Immunodeficiency, X-Linked
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:312863
Li-Fraumeni Syndrome
Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer... ORPHA:524
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Thrombocytopenia, Recurrent infections OMIM:614493
Birt-Hogg-Dube Syndrome 1
Renal neoplasm, Cutaneous leiomyosarcoma, Trichodiscoma, Fibrofolliculoma, Multiple lipomas, Rena... OMIM:135150
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Lymphoproliferati... OMIM:300853
Pleuropulmonary Blastoma
Medulloblastoma, Pleuropulmonary blastoma, Rhabdomyosarcoma OMIM:601200
Myofibromatosis, Infantile, 1
Fibroma, Myofibromatosis OMIM:228550
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Lymphoproliferative disorder, E... ORPHA:911
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neonatal sepsis, Eosinophilia, Autoimmune thrombocytopenia, Recurrent viral infections, Decreased... ORPHA:169154
Mismatch Repair Cancer Syndrome 1
Glioblastoma multiforme, Astrocytoma, Non-Hodgkin lymphoma, Rhabdomyosarcoma, Oligodendroglioma, ... OMIM:276300
Carney Triad
Gastrointestinal stroma tumor, Leiomyosarcoma, Adrenocortical adenoma, Pheochromocytoma, Paragang... ORPHA:139411
Epidermodysplasia Verruciformis, Susceptibility To, 5
Persistent human papillomavirus infection, Cryptococcal meningitis, T lymphocytopenia, Squamous c... OMIM:618309
Retinoblastoma
Glioma, Rhabdomyosarcoma, Lymphoma, Pineoblastoma, Leiomyosarcoma, Melanoma, Retinoblastoma, Leuk... ORPHA:790
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Recurrent bacterial infections, Recurrent candida infections OMIM:242870
Colorectal Cancer
Renal cell carcinoma, Uterine leiomyosarcoma, Transitional cell carcinoma of the bladder OMIM:114500
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Meningitis, Hypereosinophilia, Chronic tinea infection, Chronic oral candi... OMIM:212050
Rhabdomyosarcoma, Embryonal, 1
Embryonal rhabdomyosarcoma OMIM:268210
Rhabdomyosarcoma 2
Alveolar rhabdomyosarcoma OMIM:268220
Rhabdomyosarcoma, Embryonal, 2
Ovarian thecoma, Nephroblastoma, Embryonal rhabdomyosarcoma, Pleuropulmonary blastoma OMIM:180295
Selective Igm Deficiency
Recurrent herpes, Recurrent staphylococcal infections, Severe varicella zoster infection, Sepsis,... ORPHA:331235
Immunodeficiency 97 With Autoinflammation
Recurrent sinopulmonary infections, Autoimmune hemolytic anemia, Recurrent urinary tract infectio... OMIM:619802
Hereditary Leiomyomatosis And Renal Cell Cancer
Barrett esophagus, Multiple cutaneous leiomyomas, Vaginal neoplasm, Esophageal neoplasm, Papillar... ORPHA:523
Large Congenital Melanocytic Nevus
Rhabdomyosarcoma, Neoplasm, Neoplasm of the skin, Cutaneous melanoma, Sarcoma ORPHA:626
Li-Fraumeni Syndrome
Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ... OMIM:151623
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Immunodeficiency 13
Lymphopenia, Recurrent shingles, Recurrent upper respiratory tract infections, Recurrent pneumoni... OMIM:615518
Familial Multinodular Goiter
Alveolar rhabdomyosarcoma, Pleuropulmonary blastoma, Pilomatrixoma, Ovarian neoplasm, Basal cell ... ORPHA:276399
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent respiratory infections, Recurrent bacterial skin infections, Recurrent viral infections... ORPHA:217390
Immunodeficiency 19
Recurrent respiratory infections, Severe viral infection, T lymphocytopenia, Abnormal B cell morp... OMIM:615617
Immunodeficiency 102
Hepatomegaly, Autoimmune thrombocytopenia, Nodular regenerative hyperplasia of liver, Severe vari... OMIM:301082
Beckwith-Wiedemann Syndrome
Hepatomegaly, Nephroblastoma, Rhabdomyosarcoma, Congenital diaphragmatic hernia, Diastasis recti,... ORPHA:116
Tumor Predisposition Syndrome 1
Uveal melanoma, Renal cell carcinoma, Cutaneous melanoma, Malignant mesothelioma, Lung adenocarci... OMIM:614327
Melanoma-Pancreatic Cancer Syndrome
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano... OMIM:606719
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Recurrent urinary tract infections, Glioma, Recurrent bronchitis, Rh... OMIM:251260
Immunodeficiency 17
Recurrent respiratory infections, Autoimmune hemolytic anemia, Decreased proportion of CD8-positi... OMIM:615607
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:617241
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymphopenia, Recurrent herpes, Decreased proportion of naive T cells, Lymphoproliferative disorde... ORPHA:276
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells OMIM:611926
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia, Recurrent respiratory infections OMIM:233650
Progressive Multifocal Leukoencephalopathy
Hematological neoplasm, Decreased proportion of CD8-positive T cells, Limb muscle weakness, Menin... ORPHA:217260
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Recurrent sinopulmonary infections, Eosinophilia, Recurrent viral infections, Recurrent pneumonia... OMIM:243700
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Nut Midline Carcinoma
Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Neur... ORPHA:443167
Nijmegen Breakage Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Recurrent sinopulmonary infections, Glioma, B-cell... ORPHA:647
Lung Cancer
Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma OMIM:211980
Undifferentiated Pleomorphic Sarcoma
Soft tissue sarcoma ORPHA:2023
Phakomatosis Pigmentokeratotica
Rhabdomyosarcoma, Renal transitional cell carcinoma, Basal cell carcinoma, Pheochromocytoma, Hema... ORPHA:2874
Neurofibromatosis, Type I
Astrocytoma, Rhabdomyosarcoma, Neurofibroma, Optic nerve glioma, Pheochromocytoma, Meningioma, Pl... OMIM:162200
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent respiratory infections, Pancytopenia, Autoimmune hemolytic anemia, Recurrent herpes, Ch... ORPHA:572
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... OMIM:301000
Epidermal Nevus Syndrome
Lipoma, Weakness of long finger extensor muscles, Spinal cord tumor, Rhabdomyosarcoma ORPHA:35125
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition
Pilomatrixoma, Embryonal rhabdomyosarcoma, Multiple enchondromatosis, Adenocarcinoma of the colon... OMIM:620189
Immunodeficiency 36 With Lymphoproliferation
B-cell lymphoma, Persistent CMV viremia, Splenomegaly, Recurrent upper respiratory tract infectio... OMIM:616005
Dermatofibrosarcoma Protuberans
Fibrosarcoma, Neoplasm of the skin ORPHA:31112
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Lymphoproliferative disorder, B-cell lym... OMIM:613011
Monosomy 9Q22.3
Odontogenic keratocysts of the jaw, Ovarian fibroma, Rhabdomyosarcoma, Medulloblastoma, Cardiac f... ORPHA:77301
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunistic infection... ORPHA:275
Mosaic Variegated Aneuploidy Syndrome
Vaginal neoplasm, Rhabdomyosarcoma, Myelodysplasia, Acute lymphoblastic leukemia, Neoplasm, Muscu... ORPHA:1052
Immunodeficiency 70
Decreased proportion of CD4-positive helper T cells, B lymphocytopenia, Verrucae, Recurrent sinus... OMIM:618969
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Hepatomegaly, Decreased proportion of CD8-positive T cells, Recurrent pneumonia, Hypereosinophili... ORPHA:508533
17Q11 Microdeletion Syndrome
Multiple mucosal neuromas, Brain neoplasm, Glioma, Cerebellar glioma, Rhabdomyosarcoma, Myelodysp... ORPHA:97685
Mosaic Variegated Aneuploidy Syndrome 1
Nephroblastoma, Leukemia, Embryonal rhabdomyosarcoma OMIM:257300
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Recurrent viral infections, Sepsis, Leukopenia, T lymphocytopenia, Neutro... ORPHA:443811
Immunodeficiency 85 And Autoimmunity
Recurrent respiratory infections, Persistent EBV viremia, T lymphocytopenia, Decreased proportion... OMIM:619510
Apc-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the pancreas, Astrocytoma, Adrenocortical carcinoma, Pilomatrixoma, Medulloblastoma, ... ORPHA:247806
Familial Adenomatous Polyposis 1
Astrocytoma, Adrenocortical carcinoma, Fibroadenoma of the breast, Medulloblastoma, Desmoid tumor... OMIM:175100
Gardner Syndrome
Neoplasm of the pancreas, Brain neoplasm, Astrocytoma, Adrenocortical carcinoma, Pilomatrixoma, M... ORPHA:79665
Autoimmune Lymphoproliferative Syndrome
Hepatocellular carcinoma, Thyroid carcinoma, Lymphocytosis, Increased B cell count, Elevated prop... ORPHA:3261
Bloom Syndrome
Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Malignant genitourinary tra... ORPHA:125
Costello Syndrome
Rhabdomyosarcoma, Achilles tendon contracture, Bladder carcinoma, Macroglossia, Vestibular schwan... OMIM:218040
Familial Adenomatous Polyposis
Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Angiofibromas, Papillary thyroid carcinoma, Ad... ORPHA:733
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Decreased proportion of CD4-p... ORPHA:101096
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated hepatic transaminase, Hepatomegaly, Myositis, Splenomegaly, Flexion contracture, Recurre... 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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