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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
Anemia, Flexion contracture, Elevated hepatic transaminase, Lymphopenia, Myositis, Recurrent infe... 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, Disseminated cutaneous warts, Recurrent otitis medi... OMIM:619238
Immunodeficiency 15A
Decreased proportion of CD8-positive T cells, Recurrent sinusitis, Recurrent otitis media, Chroni... OMIM:618204
Immunodeficiency 18
Recurrent gastroenteritis, Lymphopenia, Recurrent otitis media, Decreased proportion of CD3-posit... OMIM:615615
Cd8 Deficiency, Familial
Recurrent bacterial infections, Absence of CD8-positive T cells, Recurrent viral infections, Recu... OMIM:608957
Hereditary Leiomyomatosis And Renal Cell Cancer
Multiple cutaneous leiomyomas, Uterine leiomyosarcoma, Renal cell carcinoma, Cutaneous leiomyosar... OMIM:150800
Li-Fraumeni Syndrome
Acute myeloid leukemia, Neoplasm of the gastrointestinal tract, Neoplasm of the central nervous s... ORPHA:524
Immunodeficiency 48
Absence of CD8-positive T cells, Hepatomegaly, Recurrent candida infections, Recurrent respirator... OMIM:269840
Birt-Hogg-Dube Syndrome
Multiple lipomas, Fibrofolliculoma, Large intestinal polyposis, Renal cell carcinoma, Renal neopl... OMIM:135150
Immunodeficiency 24
Decreased CD4:CD8 ratio, Severe varicella zoster infection, Reduced proportion of mucosal-associa... OMIM:615897
Combined Immunodeficiency, X-Linked
Recurrent bronchitis, Decreased proportion of CD4-positive helper T cells, Decreased proportion o... OMIM:312863
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Decreased proportion of CD8-positive T cells, Recurrent infections OMIM:614493
Colorectal Cancer
Neoplasm of the stomach, Uterine leiomyosarcoma, Renal cell carcinoma, Transitional cell carcinom... OMIM:114500
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Lymphoma, Persistent EBV viremia, Severe varicella zoster infection, Decreased CD4:CD8 ratio, Hod... OMIM:300853
Pleuropulmonary Blastoma
Medulloblastoma, Pleuropulmonary blastoma, Rhabdomyosarcoma OMIM:601200
Myofibromatosis, Infantile, 1
Fibroma, Myofibromatosis OMIM:228550
Mismatch Repair Cancer Syndrome 1
Lymphoma, Medulloblastoma, Astrocytoma, Adenocarcinoma of the small intestine, Adenocarcinoma of ... OMIM:276300
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent mycobacterial infections, Recurrent opportunistic infections, Recurrent bacterial skin ... ORPHA:911
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neonatal sepsis, T lymphocytopenia, Lymphocytosis, Decreased proportion of CD3-positive T cells, ... ORPHA:169154
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Squamous cell carcinoma of the skin, Lymphopenia, Persistent human papillomavi... OMIM:618309
Carney Triad
Anemia, Pheochromocytoma, Paraganglioma, Gastrointestinal stroma tumor, Leiomyosarcoma, Adrenocor... ORPHA:139411
Retinoblastoma
Lymphoma, Retinoblastoma, Leiomyosarcoma, Melanoma, Ewing sarcoma, Pineoblastoma, Osteosarcoma, G... ORPHA:790
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent candida infections, Recurrent bacterial infections, T lymphocytopenia OMIM:242870
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Abnormal natural killer cell count, Chronic oral candidiasis, Abnormal proport... OMIM:212050
Rhabdomyosarcoma, Embryonal, 1
Embryonal rhabdomyosarcoma OMIM:268210
Rhabdomyosarcoma 2
Alveolar rhabdomyosarcoma OMIM:268220
Rhabdomyosarcoma, Embryonal, 2
Nephroblastoma, Pleuropulmonary blastoma, Ovarian thecoma, Embryonal rhabdomyosarcoma OMIM:180295
Selective Igm Deficiency
Recurrent vulvovaginal candidiasis, Recurrent sinusitis, Decreased proportion of CD4-positive T c... ORPHA:331235
Li-Fraumeni Syndrome
Nephroblastoma, Breast carcinoma, Prostate cancer, Adrenocortical carcinoma, Choriocarcinoma, Neo... OMIM:151623
Immunodeficiency 97 With Autoinflammation
Reduced natural killer cell count, Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T ... OMIM:619802
Large Congenital Melanocytic Nevus
Sarcoma, Neoplasm of the skin, Neoplasm, Cutaneous melanoma, Rhabdomyosarcoma ORPHA:626
Hereditary Leiomyomatosis And Renal Cell Cancer
Multiple cutaneous leiomyomas, Uterine leiomyosarcoma, Esophageal neoplasm, Vaginal neoplasm, Pap... ORPHA:523
Familial Multinodular Goiter
Pilomatrixoma, Pleuropulmonary blastoma, Cerebellar medulloblastoma, Colorectal polyposis, Alveol... ORPHA:276399
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent bacterial skin infections, Recurrent respiratory infections, T lymphocytopenia, B lymph... ORPHA:217390
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Immunodeficiency 13
Recurrent shingles, Decreased CD4:CD8 ratio, T lymphocytopenia, B lymphocytopenia, Recurrent sinu... OMIM:615518
Immunodeficiency 19
T lymphocytopenia, Abnormal B cell morphology, Severe viral infection, Recurrent otitis media, Ab... OMIM:615617
Colorectal Cancer, Susceptibility To, 12
Carcinoma, Colorectal polyposis OMIM:615083
Immunodeficiency 102
Verrucae, Leukopenia, Anemia, Severe varicella zoster infection, Reduced natural killer cell coun... OMIM:301082
Beckwith-Wiedemann Syndrome
Nephroblastoma, Gonadoblastoma, Diastasis recti, Large intestinal polyposis, Adrenocortical carci... ORPHA:116
Tumor Predisposition Syndrome 1
Renal cell carcinoma, Malignant mesothelioma, Lung adenocarcinoma, Meningioma, Uveal melanoma, Cu... OMIM:614327
Melanoma-Pancreatic Cancer Syndrome
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Sarcoma, Squamous cell carcinom... OMIM:606719
Nijmegen Breakage Syndrome
Lymphoma, Medulloblastoma, T lymphocytopenia, B lymphocytopenia, Recurrent urinary tract infectio... OMIM:251260
Immunodeficiency 17
T lymphocytopenia, Chronic oral candidiasis, Abnormal B cell morphology, Decreased proportion of ... OMIM:615607
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD8-positive T cells, Hypoplasia of the thymus, Decreased proportion of C... OMIM:617241
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymphoma, Recurrent opportunistic infections, Recurrent bacterial skin infections, Recurrent cuta... 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
Progressive Multifocal Leukoencephalopathy
Abnormal proportion of CD4-positive T cells, Decreased proportion of CD8-positive T cells, Mening... ORPHA:217260
Combined Cellular And Humoral Immune Defects With Granulomas
Recurrent respiratory infections, T lymphocytopenia, B lymphocytopenia OMIM:233650
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Reduced natural killer cell count, Disseminated molluscum contagiosum, Squamous cell carcinoma, R... OMIM:243700
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells OMIM:611926
Nut Midline Carcinoma
Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Pancreatic squamous cell carcinom... ORPHA:443167
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Nijmegen Breakage Syndrome
Lymphoma, Hemolytic anemia, Glioma, Rhabdomyosarcoma, Recurrent sinopulmonary infections, Recurre... ORPHA:647
Lung Cancer
Lung adenocarcinoma, Alveolar cell carcinoma, Non-small cell lung carcinoma OMIM:211980
Undifferentiated Pleomorphic Sarcoma
Soft tissue sarcoma ORPHA:2023
Phakomatosis Pigmentokeratotica
Nephroblastoma, Basal cell carcinoma, Pheochromocytoma, Hemangioma, Cutaneous melanoma, Renal tra... ORPHA:2874
Neurofibromatosis, Type I
Spinal neurofibromas, Astrocytoma, Parathyroid adenoma, Neurofibromas, Plexiform neurofibroma, Ph... OMIM:162200
Immunodeficiency By Defective Expression Of Mhc Class Ii
T lymphocytopenia, Neutropenia, Recurrent Staphylococcus aureus infections, Recurrent herpes, Neu... ORPHA:572
Immunodeficiency 36 With Lymphoproliferation
Persistent EBV viremia, Decreased proportion of naive CD8 T cells, Chronic lymphatic leukemia, In... OMIM:616005
Epidermal Nevus Syndrome
Weakness of long finger extensor muscles, Spinal cord tumor, Lipoma, Rhabdomyosarcoma ORPHA:35125
Wiskott-Aldrich Syndrome
Decreased mean platelet volume, Recurrent meningitis, Absent microvilli on the surface of periphe... OMIM:301000
Dermatofibrosarcoma Protuberans
Fibrosarcoma, Neoplasm of the skin ORPHA:31112
Lymphoproliferative Syndrome 1
Persistent EBV viremia, Leukopenia, Anemia, Pancytopenia, Autoimmune thrombocytopenia, Autoimmune... OMIM:613011
Monosomy 9Q22.3
Nephroblastoma, Medulloblastoma, Odontogenic keratocysts of the jaw, Basal cell carcinoma, Cardia... ORPHA:77301
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent mycobacterial infections, Recurrent opportunistic infections, Chronic oral candidiasis,... ORPHA:275
Mosaic Variegated Aneuploidy Syndrome
Nephroblastoma, Stomach cancer, Myelodysplasia, Muscular dystrophy, Vaginal neoplasm, Acute lymph... ORPHA:1052
Apc-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the pancreas, Esophageal carcinoma, Papillary thyroid carcinoma, Breast carcinoma, As... ORPHA:247806
Familial Adenomatous Polyposis 1
Fibroma, Multiple lipomas, Medulloblastoma, Astrocytoma, Duodenal polyposis, Odontoma, Adrenocort... OMIM:175100
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Hypereosinophilia, T lymphocytopenia, Elbow flexion contracture, Decreased proportion of CD8-posi... ORPHA:508533
Gardner Syndrome
Neoplasm of the pancreas, Hepatoblastoma, Esophageal carcinoma, Papillary thyroid carcinoma, Brea... ORPHA:79665
17Q11 Microdeletion Syndrome
Glomus jugular tumor, Breast carcinoma, Myelodysplasia, Atypical neurofibromatosis, Brainstem gli... ORPHA:97685
Mosaic Variegated Aneuploidy Syndrome 1
Nephroblastoma, Leukemia, Embryonal rhabdomyosarcoma OMIM:257300
Pgm3-Cdg
T lymphocytopenia, Eosinophilia, Decreased proportion of CD4-positive helper T cells, Recurrent v... ORPHA:443811
Immunodeficiency 85 And Autoimmunity
Persistent EBV viremia, Reduced natural killer cell count, T lymphocytopenia, Lymphopenia, Decrea... OMIM:619510
Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Fibroma, Neoplasm of the stomach, Astrocytoma, Papilloma, Adenocarcinoma of t... ORPHA:220460
Familial Adenomatous Polyposis
Fibroma, Adenocarcinoma of the small intestine, Neoplasm of the gastrointestinal tract, Ependymom... ORPHA:733
Autoimmune Lymphoproliferative Syndrome
Coombs-positive hemolytic anemia, Hepatocellular carcinoma, Reticulocytosis, Neoplasm of the skin... ORPHA:3261
Bloom Syndrome
Acute myeloid leukemia, Myelodysplasia, Esophageal neoplasm, Acute lymphoblastic leukemia, Decrea... ORPHA:125
Costello Syndrome
Bladder carcinoma, Rhabdomyosarcoma, Achilles tendon contracture, Macroglossia, Vestibular schwan... OMIM:218040
Turcot Syndrome With Polyposis
Neoplasm of the central nervous system, Ependymoma, Hepatoblastoma, Soft tissue neoplasm, Glioma,... ORPHA:99818
Aregenerative Anemia
Reticulocytopenia, Abnormal proportion of CD8-positive T cells, Erythroid hypoplasia, Pancytopeni... ORPHA:101096
Proteasome-Associated Autoinflammatory Syndrome 3
Anemia, Flexion contracture, Elevated hepatic transaminase, Lymphopenia, Myositis, Recurrent infe... 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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