Gene Summary

Name:
p21 (RAC1) activated kinase 5
Synonyms:
Pak7,  2900083L08Rik,  Pak5

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal lymph node morphology Pak5em1(IMPC)Mbp HOM Early adult 0.00
enlarged lymph nodes Pak5em1(IMPC)Mbp HOM Early adult 0.00
increased vertical activity Pak5em1(IMPC)Mbp HOM Early adult 4.01×10-06
limb grasping Pak5em1(IMPC)Mbp HOM   Early adult 2.66×10-06

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
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Viewing: all phenotypes

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 Dorso Ventral

27 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

Human diseases caused by Pak5 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 Pak5 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
7q11.23 duplication syndrome
Short attention span DECIPHER:43
Presenile Dementia, Kraepelin Type
Dementia OMIM:176600
Monoamine Oxidase A Deficiency
Cognitive impairment ORPHA:3057
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center OMIM:235550
Hereditary Progressive Mucinous Histiocytosis
Lymphadenopathy ORPHA:158025
Mantle Cell Lymphoma
Splenomegaly, Anorexia, Lymphadenopathy ORPHA:52416
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Follicular hyperplasia ORPHA:60026
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Lymphadenopathy, Follicular hyperplasia OMIM:619126
Kerion Celsi
Lymphadenopathy ORPHA:499
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Kimura Disease
Lymphadenopathy, Follicular hyperplasia ORPHA:482
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Anorexia, Lymphadenopathy ORPHA:86893
Immunodeficiency 32A
Lymphadenitis, Lymphadenopathy OMIM:614893
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Anorexia, Oral-pharyngeal dysphagia ORPHA:100083
Immunodeficiency 104
Splenomegaly, Lymphadenopathy OMIM:608971
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Autoinflammation With Episodic Fever And Lymphadenopathy
Splenomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Mast Cell Sarcoma
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:66661
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response, Attention deficit hyperactivity disorder OMIM:617028
Follicular Lymphoma
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:545
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Lymphadenopathy OMIM:618261
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Splenomegaly, Lymphadenopathy ORPHA:444463
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy OMIM:608106
Granulomatous Slack Skin
Abnormal lymph node morphology ORPHA:33111
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology ORPHA:97290
Familial Papillary Or Follicular Thyroid Carcinoma
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology ORPHA:319487
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Lymphadenopathy OMIM:615513
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Immunodeficiency 76
Splenomegaly, Lymphadenopathy OMIM:619164
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Lymphadenopathy, Fluctuating splenomegaly OMIM:619220
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Hepatosplenomegaly, Lymphadenopathy OMIM:618982
Classic Hodgkin Lymphoma
Ataxia, Anorexia, Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity ORPHA:391
Rosaï-Dorfman Disease
Lymphadenopathy ORPHA:158014
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center OMIM:606843
Mu-Heavy Chain Disease
Splenomegaly, Lymphadenopathy ORPHA:100024
Generalized Eruptive Histiocytosis
Lymphadenopathy ORPHA:157991
Immunodeficiency 27A
Anorexia, Splenomegaly, Enlarged mesenteric lymph node, Lymphadenopathy, Hepatosplenomegaly OMIM:209950
Alpha-Heavy Chain Disease
Splenomegaly, Lymphadenopathy ORPHA:100025
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Lymphadenopathy, Follicular hyperplasia OMIM:619846
Pleural Mesothelioma
Dysphagia, Lymphadenopathy ORPHA:50251
Burkitt Lymphoma
Abnormality of the spleen, Abnormal lymph node morphology ORPHA:543
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy OMIM:618987
Immunodeficiency 52
Splenomegaly, Lymphadenopathy OMIM:617514
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy OMIM:300853
Fish-Eye Disease
Splenomegaly, Lymphadenopathy ORPHA:79292
Immunodeficiency, Common Variable, 2
Splenomegaly, Follicular hyperplasia, Lymphadenopathy OMIM:240500
Pfapa Syndrome
Splenomegaly, Lymphadenopathy ORPHA:42642
Immunodeficiency 64 With Lymphoproliferation
Splenomegaly, Mediastinal lymphadenopathy, Cervical lymphadenopathy, Lymphadenopathy, Hepatosplen... OMIM:618534
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly OMIM:613101
Immunodeficiency With Hyper-Igm, Type 4
Absence of lymph node germinal center OMIM:608184
Hemophagocytic Lymphohistiocytosis, Familial, 4
Splenomegaly, Lymphadenopathy OMIM:603552
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Autoimmune Lymphoproliferative Syndrome, Type Iii
Generalized lymphadenopathy, Follicular hyperplasia, Mediastinal lymphadenopathy, Splenomegaly, L... OMIM:615559
Immunodeficiency 103, Susceptibility To Fungal Infections
Lymphadenopathy OMIM:212050
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Generalized lymphadenopathy, Aplasia of the thymus, Splenomegaly, Lymph node hypoplasia, Absent t... OMIM:602450
Leukocyte Adhesion Deficiency, Type Iii
Splenomegaly, Abnormal lymph node morphology, Hepatosplenomegaly OMIM:612840
Caspase 8 Deficiency
Splenomegaly, Lymphadenopathy OMIM:607271
Familial Cold Autoinflammatory Syndrome 2
Splenomegaly, Lymphadenopathy OMIM:611762
Immunodeficiency 109 With Lymphoproliferation
Splenomegaly, Generalized lymphadenopathy OMIM:620282
Pseudomyxoma Peritonei
Lymphadenopathy ORPHA:26790
Classic Mycosis Fungoides
Splenomegaly, Lymphadenopathy ORPHA:2584
Thyroid Lymphoma
Dysphagia, Lymphadenopathy ORPHA:97285
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, Absence of lymph node germinal center ORPHA:277
Schnitzler Syndrome
Splenomegaly, Lymphadenopathy ORPHA:37748
Activated Pi3K-Delta Syndrome
Splenomegaly, Recurrent tonsillitis, Lymphadenopathy ORPHA:397596
Purine Nucleoside Phosphorylase Deficiency
Tremor, Splenomegaly, Ataxia, Lymph node hypoplasia OMIM:613179
Niemann-Pick Disease, Type A
Inability to walk, Splenomegaly, Athetosis, Lymphadenopathy OMIM:257200
Immunodeficiency 105
Hepatosplenomegaly, Absence of lymph node germinal center OMIM:619924
Tularemia
Abnormal nasopharyngeal adenoid morphology, Cervical lymphadenopathy, Mediastinal lymphadenopathy... ORPHA:3392
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Splenomegaly, Lymphadenopathy OMIM:618495
Sézary Syndrome
Tremor, Splenomegaly, Lymphadenopathy ORPHA:3162
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Splenomegaly, Lymphadenopathy OMIM:150550
Cold Agglutinin Disease
Splenomegaly, Lymphadenopathy ORPHA:56425
Congenital Toxoplasmosis
Lymphadenopathy ORPHA:858
Immunodeficiency 54
Splenomegaly, Lymphadenopathy OMIM:609981
Indolent Systemic Mastocytosis
Splenomegaly, Lymphadenopathy ORPHA:98848
Middle Ear Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100084
Leishmaniasis
Splenomegaly, Anorexia, Lymphadenopathy ORPHA:507
Immunodeficiency, Common Variable, 1
Splenomegaly, Lymphadenopathy OMIM:607594
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Splenomegaly, Lymphadenopathy OMIM:619375
Medullary Thyroid Carcinoma
Dysphagia, Lymphadenopathy ORPHA:1332
Ras-Associated Autoimmune Leukoproliferative Disorder
Splenomegaly, Follicular hyperplasia OMIM:614470
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormality of the lymphatic system, Abnormal lymph node morphology ORPHA:54251
Heme Oxygenase 1 Deficiency
Asplenia, Cervical lymphadenopathy, Lymphadenopathy OMIM:614034
Systemic-Onset Juvenile Idiopathic Arthritis
Splenomegaly, Lymphadenopathy ORPHA:85414
Immunodeficiency 7
Splenomegaly, Lymphadenopathy OMIM:615387
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Scrub Typhus
Tremor, Splenomegaly, Lymphadenopathy ORPHA:83317
Lymphoproliferative Syndrome 2
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly OMIM:615122
Griscelli Syndrome
Splenomegaly, Ataxia, Bone marrow hypocellularity, Lymphadenopathy ORPHA:381
Immunodeficiency 10
Lymphadenopathy OMIM:612783
Nephroblastoma
Lymphadenopathy ORPHA:654
Cinca Syndrome
Lymphadenopathy, Hepatosplenomegaly OMIM:607115
Anaplastic Thyroid Carcinoma
Dysphagia, Lymphadenopathy ORPHA:142
Griscelli Syndrome Type 2
Splenomegaly, Lymphadenopathy ORPHA:79477
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphadenitis, Abnormal lymph node morphology, Lymphadenopathy, Hepatosplenomegaly ORPHA:911
Acquired Hypertrichosis Lanuginosa
Lymphadenopathy ORPHA:2221
Rhabdoid Tumor
Lymphadenopathy ORPHA:69077
Squamous Cell Carcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424019
Roifman Syndrome
Splenomegaly, Lymphadenopathy OMIM:616651
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Splenomegaly, Lymphadenitis, Recurrent tonsillitis, Lymphadenopathy, Hepatosplenomegaly OMIM:618935
Primary Myelofibrosis
Splenomegaly, Lymphadenopathy, Anorexia, Hepatosplenomegaly ORPHA:824
Roifman Syndrome
Lymphadenopathy, Hepatosplenomegaly ORPHA:353298
Papa Syndrome
Lymphadenopathy ORPHA:69126
Deafness-Lymphedema-Leukemia Syndrome
Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy ORPHA:3226
Gamma-Heavy Chain Disease
Splenomegaly, Dysphagia, Lymphadenopathy ORPHA:100026
Desmoplastic Small Round Cell Tumor
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:83469
Autoimmune Lymphoproliferative Syndrome
Splenomegaly, Chronic noninfectious lymphadenopathy, Follicular hyperplasia OMIM:601859
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Lymphadenopathy, Hepatosplenomegaly OMIM:619750
Boutonneuse Fever
Cervical lymphadenopathy, Lymphadenopathy ORPHA:83313
Proteasome-Associated Autoinflammatory Syndrome 4
Splenomegaly, Lymphadenopathy OMIM:619183
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymph node hypoplasia, Absent tonsils ORPHA:276
Cutaneous Mastocytoma
Lymphadenopathy ORPHA:79455
Autoimmune Lymphoproliferative Syndrome, Type Iia
Splenomegaly, Follicular hyperplasia, Chronic noninfectious lymphadenopathy, Lymphadenopathy OMIM:603909
Aggressive Systemic Mastocytosis
Hypersplenism, Lymphadenopathy, Anorexia, Hepatosplenomegaly ORPHA:98850
Lymphoproliferative Syndrome, X-Linked, 1
Splenomegaly, Lymphadenopathy OMIM:308240
Pulmonary Non-Tuberculous Mycobacterial Infection
Lymphadenopathy ORPHA:411703
Klatskin Tumor
Lymphadenopathy ORPHA:99978
Hyperimmunoglobulinemia D With Periodic Fever
Ataxia, Lymphadenopathy ORPHA:343
Melkersson-Rosenthal Syndrome
Lymphadenopathy ORPHA:2483
Legionnaires Disease
Ataxia, Anorexia, Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity ORPHA:549
Immunodeficiency 91 And Hyperinflammation
Lymphadenopathy, Hepatosplenomegaly OMIM:619644
Cyclic Neutropenia
Cervical lymphadenopathy, Recurrent tonsillitis, Lymphadenopathy ORPHA:2686
Proteasome-Associated Autoinflammatory Syndrome 2
Lymphadenopathy OMIM:618048
American Trypanosomiasis
Splenomegaly, Lymphadenopathy ORPHA:3386
Hypocomplementemic Urticarial Vasculitis
Splenomegaly, Ataxia, Lymphadenopathy ORPHA:36412
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Splenomegaly, Lymphadenopathy OMIM:616100
Immunodeficiency 97 With Autoinflammation
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Hepatosplenomegaly OMIM:619802
Chediak-Higashi Syndrome
Ataxia, Tremor, Splenomegaly, Lymphadenopathy, Gait disturbance OMIM:214500
Acute Monoblastic/Monocytic Leukemia
Cervical lymphadenopathy, Anorexia ORPHA:514
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Absent peripheral lymph nodes in presence of infection ORPHA:98813
Diffuse Cutaneous Mastocytosis
Abnormality of the spleen, Lymphadenopathy ORPHA:79456
Pancreatoblastoma
Abnormal lymph node morphology ORPHA:677
Lymphoproliferative Syndrome 1
Splenomegaly, Lymphadenopathy OMIM:613011
Mevalonic Aciduria
Ataxia, Fluctuating splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Progressive cerebellar ataxia OMIM:610377
Thymic Neuroendocrine Tumor
Neoplasm of the thymus, Mediastinal lymphadenopathy, Chronic noninfectious lymphadenopathy ORPHA:97289
Omenn Syndrome
Splenomegaly, Lymphadenopathy ORPHA:39041
Immunodeficiency 98 With Autoinflammation, X-Linked
Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy OMIM:301078
Cherubism
Marcus Gunn pupil, Submandibular lymph node enlargement OMIM:118400
Omenn Syndrome
Splenomegaly, Hypoplasia of the thymus, Lymphadenopathy OMIM:603554
Castleman Disease
Mediastinal lymphadenopathy, Follicular hyperplasia, Generalized lymphadenopathy, Lymphadenopathy ORPHA:160
Combined Immunodeficiency Due To Crac Channel Dysfunction
Splenomegaly, Lymphadenopathy ORPHA:169090
Felty Syndrome
Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy ORPHA:47612
Acute Promyelocytic Leukemia
Addictive alcohol use, Anorexia, Lymphadenopathy ORPHA:520
Cinca Syndrome
Splenomegaly, Lymphadenopathy ORPHA:1451
Hereditary Amyloidosis With Primary Renal Involvement
Abnormal lymph node morphology, Lymphadenopathy, Hepatosplenomegaly ORPHA:85450
Carney Triad
Mediastinal lymphadenopathy, Anorexia, Lymphadenopathy ORPHA:139411
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphadenopathy, Hepatosplenomegaly ORPHA:169154
Hemophagocytic Lymphohistiocytosis, Familial, 1
Splenomegaly, Ataxia, Lymphadenopathy OMIM:267700
Joint Contractures, Osteochondromas, And B-Cell Lymphoma
Generalized lymphadenopathy OMIM:620232
Hemophagocytic Lymphohistiocytosis, Familial, 2
Splenomegaly, Ataxia, Lymphadenopathy, Hepatosplenomegaly OMIM:603553
Macrophage Activation Syndrome
Splenomegaly, Lymphadenopathy ORPHA:158061
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Enlarged tonsils, Lymphadenopathy, Hepatosplenomegaly OMIM:606367
Neuroendocrine Tumor Of The Colon
Chronic noninfectious lymphadenopathy, Anorexia ORPHA:100080
Immunodeficiency With Hyper-Igm, Type 1
Splenomegaly, Enlarged tonsils, Absence of lymph node germinal center OMIM:308230
Waldenström Macroglobulinemia
Splenomegaly, Ataxia, Anorexia, Lymphadenopathy ORPHA:33226
Mixed Connective Tissue Disease
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:809
Kikuchi-Fujimoto Disease
Generalized lymphadenopathy, Ataxia, Anorexia, Splenomegaly, Cervical lymphadenopathy, Abnormal l... ORPHA:50918
Cutaneous Neuroendocrine Carcinoma
Chronic noninfectious lymphadenopathy ORPHA:79140
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Splenomegaly, Lymphadenopathy ORPHA:436159
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Lymphadenopathy OMIM:304790
Familial Pancreatic Carcinoma
Lymphadenopathy, Anorexia, Hepatosplenomegaly ORPHA:1333
Immunodeficiency, Common Variable, 8, With Autoimmunity
Splenomegaly, Generalized lymphadenopathy, Lymphadenopathy OMIM:614700
Lig4 Syndrome
Lymphadenopathy ORPHA:99812
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Lymphadenitis, Generalized lymphadenopathy, Hepatosplenomegaly OMIM:618986
Familial Hemophagocytic Lymphohistiocytosis
Splenomegaly, Lymphadenopathy ORPHA:540
Aregenerative Anemia
Bone marrow hypocellularity, Lymphadenopathy ORPHA:101096
Acute Interstitial Pneumonia
Lymphadenopathy ORPHA:79126
Malt Lymphoma
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:52417
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Splenomegaly, Lymphadenitis, Lymphadenopathy OMIM:615895
Hyper-Igd Syndrome
Splenomegaly, Lymphadenitis, Lymphadenopathy, Hepatosplenomegaly OMIM:260920
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Splenomegaly, Lymphadenitis, Lymphadenopathy OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Splenomegaly, Lymphadenitis, Lymphadenopathy OMIM:233710
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Splenomegaly, Lymphadenitis, Lymphadenopathy OMIM:233690
Neuroendocrine Tumor Of The Rectum
Chronic noninfectious lymphadenopathy, Anorexia ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Chronic noninfectious lymphadenopathy, Anorexia ORPHA:100082
Pulmonary Capillary Hemangiomatosis
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:199241
Chédiak-Higashi Syndrome
Ataxia, Tremor, Splenomegaly, Inability to walk, Lymphadenopathy, Hepatosplenomegaly, Gait distur... ORPHA:167
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Lymphadenopathy OMIM:617099
Proteasome-Associated Autoinflammatory Syndrome 3
Splenomegaly, Lymphadenopathy OMIM:617591
Gallbladder Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Anorexia ORPHA:100086
Graft Versus Host Disease
Lymphadenopathy, Hepatosplenomegaly ORPHA:39812
Drug Reaction With Eosinophilia And Systemic Symptoms
Lymphadenopathy ORPHA:139402
Agammaglobulinemia, X-Linked
Lymph node hypoplasia OMIM:300755
Lymphatic Filariasis
Lymphadenitis, Abnormality of the lymphatic system, Lymphangiectasis, Lymphadenopathy ORPHA:2035
Pediatric Systemic Lupus Erythematosus
Lymphadenopathy ORPHA:93552
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Ataxia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Agitation, Bone marrow hypocellularity OMIM:615688
Farber Disease
Lymphadenopathy, Hepatosplenomegaly ORPHA:333
Q Fever
Splenomegaly, Lymphadenopathy, Anorexia, Hepatosplenomegaly ORPHA:781
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Absence of lymph node germinal center, Hepatosplenomegaly ORPHA:79124
Acute Generalized Exanthematous Pustulosis
Lymphadenopathy ORPHA:293173
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Cervical lymphadenopathy, Lymphadenopathy OMIM:617718
Immunodeficiency 55
Lymphadenopathy OMIM:617827
Histiocytosis-Lymphadenopathy Plus Syndrome
Splenomegaly, Cervical lymphadenopathy, Lymphadenopathy, Hepatosplenomegaly OMIM:602782
Systemic Mastocytosis With Associated Hematologic Neoplasm
Splenomegaly, Lymphadenopathy ORPHA:98849
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Lymphadenopathy ORPHA:83471
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Splenomegaly, Polysplenia, Lymphadenopathy OMIM:619418
Poems Syndrome
Lymphadenopathy ORPHA:2905
H Syndrome
Lymphadenopathy, Hepatosplenomegaly ORPHA:168569
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Absent peripheral lymph nodes in presence of infection OMIM:600802
Granulomatous Disease, Chronic, X-Linked
Splenomegaly, Lymphadenitis, Lymphadenopathy OMIM:306400
Common Variable Immunodeficiency
Splenomegaly, Lymphadenopathy ORPHA:1572
Tangier Disease
Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Hepatosplenomegaly ORPHA:31150
Hennekam Syndrome
Splenomegaly, Lymphangioma, Pulmonary lymphangiectasia, Lymphadenopathy ORPHA:2136
Multiple Myeloma
Splenomegaly, Lymphadenopathy ORPHA:29073
Adenocarcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424016
Selective Igm Deficiency
Lymphadenitis, Lymphadenopathy ORPHA:331235
Spondyloenchondrodysplasia With Immune Dysregulation
Lymphadenopathy OMIM:607944
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Splenomegaly, Lymphadenopathy ORPHA:37042
Autoimmune Lymphoproliferative Syndrome
Chronic noninfectious lymphadenopathy, Hypersplenism, Splenomegaly, Lymphadenopathy, Bone marrow ... ORPHA:3261
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Lymphadenopathy, Hepatosplenomegaly ORPHA:85408
Lymphangioleiomyomatosis
Pulmonary lymphangiomyomatosis, Abnormality of the lymphatic system, Lymphadenopathy ORPHA:538
Autosomal Recessive Malignant Osteopetrosis
Tremor, Splenomegaly, Lymphadenopathy ORPHA:667
Immunodeficiency 31C
Splenomegaly, Lymphadenopathy OMIM:614162
Behçet Disease
Ataxia, Anorexia, Splenomegaly, Lymphadenopathy, Gait disturbance ORPHA:117
African Trypanosomiasis
Akinesia, Aggressive behavior, Tremor, Splenomegaly, Hepatosplenomegaly, Choreoathetosis, Lymphad... ORPHA:3385
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Splenomegaly, Lymphadenopathy ORPHA:32960
Coccidioidomycosis
Abnormality of the spleen, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:228123
Familial Mediterranean Fever
Splenomegaly, Lymphadenopathy ORPHA:342
Ileal Neuroendocrine Tumor
Lymphadenopathy ORPHA:100078
Brucellosis
Hypersplenism, Splenomegaly, Anorexia, Lymphadenopathy ORPHA:1304
Immunodeficiency 82 With Systemic Inflammation
Splenomegaly, Follicular hyperplasia, Anorexia, Lymphadenopathy OMIM:619381
Chikungunya
Cervical lymphadenopathy, Lymphadenopathy ORPHA:324625
Igg4-Related Submandibular Gland Disease
Lymphadenopathy ORPHA:449432
Crimean-Congo Hemorrhagic Fever
Splenomegaly, Agitation, Anorexia, Lymphadenopathy ORPHA:99827
Marburg Hemorrhagic Fever
Aggressive behavior, Anorexia, Lymphadenopathy ORPHA:99826
Systemic Lupus Erythematosus
Lymphadenopathy ORPHA:536
Sarcoidosis
Abnormal lymph node morphology, Lymphadenopathy ORPHA:797
Proteasome-Associated Autoinflammatory Syndrome 1
Splenomegaly, Lymphadenopathy OMIM:256040
Igg4-Related Dacryoadenitis And Sialadenitis
Lymphadenopathy ORPHA:79078
Cushing Syndrome Due To Ectopic Acth Secretion
Neoplasm of the thymus, Anorexia, Abnormal lymph node morphology ORPHA:99889
Leptospirosis
Anorexia, Lymphadenopathy ORPHA:509
Igg4-Related Kidney Disease
Lymphadenitis, Lymphadenopathy ORPHA:449395
Igg4-Related Ophthalmic Disease
Lymphadenopathy ORPHA:449563
Primary Sjögren Syndrome
Lymphadenopathy ORPHA:289390
Blau Syndrome
Splenomegaly, Lymphadenopathy ORPHA:90340

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 Pak5

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 Pak5.

No publications found that use IMPC mice or data for Pak5.

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MGI Allele Allele Type Produced
Pak5tm278118(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Pak5tm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Pak5em1(IMPC)Mbp Intra-exon deletion Mice, Tissue

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