Gene Summary

Name:
adaptor-related protein complex 5, mu 1 subunit
Synonyms:
4932432K03Rik,  Mudeng

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 Ap5m1em1(IMPC)Mbp HOM Early adult 0.00
enlarged lymph nodes Ap5m1em1(IMPC)Mbp HOM Early adult 0.00
abnormal skin morphology Ap5m1em1(IMPC)Mbp HOM Early adult 0.00
increased freezing behavior Ap5m1em1(IMPC)Mbp HOM Early adult 1.86×10-17
decreased locomotor activity Ap5m1em1(IMPC)Mbp HOM Early adult 4.56×10-17

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

30 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Human diseases caused by Ap5m1 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 Ap5m1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Severe Primary Trimethylaminuria
Depression, Anxiety, Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity ORPHA:468726
Immunodeficiency 32A
Lymphadenopathy OMIM:614893
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormality of the lymph nodes OMIM:136580
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center OMIM:235550
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Pulmonary Nodular Lymphoid Hyperplasia
Follicular hyperplasia, Mediastinal lymphadenopathy ORPHA:60026
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Obsessive-Compulsive Disorder
Depression, Anxiety, Skin-picking OMIM:164230
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Kerion Celsi
Lymphadenopathy ORPHA:499
Immunodeficiency 75
Hepatosplenomegaly, Follicular hyperplasia, Lymphadenopathy OMIM:619126
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Kimura Disease
Follicular hyperplasia, Lymphadenopathy ORPHA:482
Immunodeficiency 7
Lymphadenopathy OMIM:615387
Carcinoma Of Esophagus
Lymphadenopathy ORPHA:70482
Immunodeficiency 104
Lymphadenopathy, Splenomegaly OMIM:608971
Pandas
Agoraphobia, Abnormal fear/anxiety-related behavior, Impulsivity, Depression, Separation insecuri... ORPHA:66624
Autoinflammation With Episodic Fever And Lymphadenopathy
Lymphadenopathy, Recurrent tonsillitis, Splenomegaly OMIM:618852
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Hodgkin Lymphoma
Ataxia, Lymphadenopathy, Splenomegaly ORPHA:98293
Mast Cell Sarcoma
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly ORPHA:66661
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphadenopathy, Splenomegaly ORPHA:444463
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:86893
Follicular Lymphoma
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly ORPHA:545
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Lymphadenopathy OMIM:618261
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Chronic noninfectious lymphadenopathy, Abnormality of the lymph nodes ORPHA:97290
Granulomatous Slack Skin
Abnormality of the lymph nodes ORPHA:33111
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy OMIM:608106
Familial Papillary Or Follicular Thyroid Carcinoma
Chronic noninfectious lymphadenopathy, Abnormality of the lymph nodes ORPHA:319487
Immunodeficiency 76
Lymphadenopathy, Splenomegaly OMIM:619164
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy OMIM:618987
Immunodeficiency 14A, Autosomal Dominant
Lymphadenopathy, Splenomegaly OMIM:615513
Immunodeficiency 72 With Autoinflammation
Hepatosplenomegaly, Lymphadenopathy OMIM:618982
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Lymphadenopathy, Fluctuating splenomegaly OMIM:619220
Mu-Heavy Chain Disease
Lymphadenopathy, Splenomegaly ORPHA:100024
Rosaï-Dorfman Disease
Lymphadenopathy ORPHA:158014
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center OMIM:606843
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100083
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Follicular hyperplasia, Lymphadenopathy OMIM:619846
Burkitt Lymphoma
Abnormality of the spleen, Abnormality of the lymph nodes ORPHA:543
Alpha-Heavy Chain Disease
Lymphadenopathy, Splenomegaly ORPHA:100025
Classic Hodgkin Lymphoma
Bone marrow hypocellularity, Ataxia, Lymphadenopathy, Splenomegaly ORPHA:391
Immunodeficiency 64
Splenomegaly, Cervical lymphadenopathy, Hepatosplenomegaly, Mediastinal lymphadenopathy, Lymphade... OMIM:618534
Immunodeficiency, Common Variable, 2
Follicular hyperplasia, Lymphadenopathy, Splenomegaly OMIM:240500
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly OMIM:300853
Immunodeficiency 52
Lymphadenopathy, Splenomegaly OMIM:617514
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hepatosplenomegaly, Lymphadenopathy, Splenomegaly OMIM:613101
Pfapa Syndrome
Lymphadenopathy, Splenomegaly ORPHA:42642
Hemophagocytic Lymphohistiocytosis, Familial, 4
Lymphadenopathy, Splenomegaly OMIM:603552
Autoimmune Lymphoproliferative Syndrome, Type Iii
Splenomegaly, Hepatosplenomegaly, Follicular hyperplasia, Mediastinal lymphadenopathy, Generalize... OMIM:615559
Fish-Eye Disease
Lymphadenopathy, Splenomegaly ORPHA:79292
Immunodeficiency With Hyper-Igm, Type 4
Absence of lymph node germinal center OMIM:608184
Niemann-Pick Disease, Type A
Inability to walk, Splenomegaly, Athetosis, Lymphadenopathy, Irritability OMIM:257200
Immunodeficiency 27A
Enlarged mesenteric lymph node, Hepatosplenomegaly, Lymphadenopathy, Splenomegaly OMIM:209950
Immunodeficiency 103, Susceptibility To Fungal Infections
Lymphadenopathy OMIM:212050
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, Absence of lymph node germinal center ORPHA:277
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Leukocyte Adhesion Deficiency, Type Iii
Hepatosplenomegaly, Abnormality of the lymph nodes, Splenomegaly OMIM:612840
Rhabdoid Tumor
Lymphadenopathy, Irritability ORPHA:69077
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Aplasia of the thymus, Splenomegaly, Generalized lymphadenopathy, Lymph node hypoplasia, Absent t... OMIM:602450
Classic Mycosis Fungoides
Lymphadenopathy, Splenomegaly ORPHA:2584
Caspase 8 Deficiency
Lymphadenopathy, Splenomegaly OMIM:607271
Schnitzler Syndrome
Lymphadenopathy, Splenomegaly ORPHA:37748
Pseudomyxoma Peritonei
Lymphadenopathy ORPHA:26790
Immunodeficiency, Common Variable, 1
Lymphadenopathy, Splenomegaly OMIM:607594
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Splenomegaly OMIM:611762
Pleural Mesothelioma
Lymphadenopathy ORPHA:50251
Immunodeficiency 105
Hepatosplenomegaly, Absence of lymph node germinal center OMIM:619924
Tularemia
Cervical lymphadenopathy, Lymphadenopathy, Mediastinal lymphadenopathy, Abnormal nasopharyngeal a... ORPHA:3392
Indolent Systemic Mastocytosis
Lymphadenopathy, Splenomegaly ORPHA:98848
Cold Agglutinin Disease
Lymphadenopathy, Splenomegaly ORPHA:56425
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Lymphadenopathy, Splenomegaly OMIM:618495
Congenital Toxoplasmosis
Lymphadenopathy ORPHA:858
Immunodeficiency 54
Lymphadenopathy, Splenomegaly OMIM:609981
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Lymphadenopathy, Splenomegaly OMIM:150550
Scrub Typhus
Lymphadenopathy, Lethargy, Splenomegaly ORPHA:83317
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Lymphadenopathy, Splenomegaly OMIM:619375
Middle Ear Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100084
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormality of the lymphatic system, Abnormality of the lymph nodes ORPHA:54251
Ras-Associated Autoimmune Leukoproliferative Disorder
Follicular hyperplasia, Splenomegaly OMIM:614470
Lymphoproliferative Syndrome 2
Hepatosplenomegaly, Lymphadenopathy, Splenomegaly OMIM:615122
Heme Oxygenase 1 Deficiency
Cervical lymphadenopathy, Lymphadenopathy, Asplenia OMIM:614034
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Griscelli Syndrome
Bone marrow hypocellularity, Ataxia, Lymphadenopathy, Splenomegaly ORPHA:381
Systemic-Onset Juvenile Idiopathic Arthritis
Lymphadenopathy, Splenomegaly ORPHA:85414
Aregenerative Anemia
Bone marrow hypocellularity, Depression, Lymphadenopathy, Emotional lability ORPHA:101096
Immunodeficiency 10
Lymphadenopathy OMIM:612783
Cinca Syndrome
Hepatosplenomegaly, Lymphadenopathy OMIM:607115
Purine Nucleoside Phosphorylase Deficiency
Lymph node hypoplasia, Ataxia, Splenomegaly OMIM:613179
Omenn Syndrome
Hypoplasia of the thymus, Lymphadenopathy, Splenomegaly OMIM:603554
Combined Immunodeficiency Due To Zap70 Deficiency
Hepatosplenomegaly, Lymphadenitis, Lymphadenopathy, Abnormality of the lymph nodes ORPHA:911
Roifman Syndrome
Lymphadenopathy, Splenomegaly OMIM:616651
Roifman Syndrome
Hepatosplenomegaly, Lymphadenopathy ORPHA:353298
Acquired Hypertrichosis Lanuginosa
Lymphadenopathy ORPHA:2221
Nephroblastoma
Lymphadenopathy ORPHA:654
Griscelli Syndrome Type 2
Lymphadenopathy, Splenomegaly ORPHA:79477
Autoimmune Lymphoproliferative Syndrome
Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Splenomegaly OMIM:601859
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly ORPHA:3226
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent tonsillitis, Splenomegaly, Hepatosplenomegaly, Lymphadenitis, Lymphadenopathy OMIM:618935
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Lymphadenopathy ORPHA:69126
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Hepatosplenomegaly, Lymphadenopathy OMIM:619750
Leishmaniasis
Lymphadenopathy, Splenomegaly ORPHA:507
Thyroid Lymphoma
Lymphadenopathy ORPHA:97285
Squamous Cell Carcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424019
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymph node hypoplasia, Absent tonsils ORPHA:276
Desmoplastic Small Round Cell Tumor
Lymphadenopathy, Mediastinal lymphadenopathy ORPHA:83469
Boutonneuse Fever
Cervical lymphadenopathy, Lymphadenopathy ORPHA:83313
Autoimmune Lymphoproliferative Syndrome, Type Iia
Chronic noninfectious lymphadenopathy, Lymphadenopathy, Follicular hyperplasia, Splenomegaly OMIM:603909
Sézary Syndrome
Lymphadenopathy, Splenomegaly ORPHA:3162
Proteasome-Associated Autoinflammatory Syndrome 4
Lymphadenopathy, Splenomegaly OMIM:619183
Lymphoproliferative Syndrome, X-Linked, 1
Lymphadenopathy, Splenomegaly OMIM:308240
Hyperimmunoglobulinemia D With Periodic Fever
Ataxia, Lymphadenopathy ORPHA:343
Hemophagocytic Lymphohistiocytosis, Familial, 1
Ataxia, Lymphadenopathy, Irritability, Splenomegaly OMIM:267700
Klatskin Tumor
Lymphadenopathy ORPHA:99978
Pulmonary Non-Tuberculous Mycobacterial Infection
Lymphadenopathy ORPHA:411703
Immunodeficiency 91 And Hyperinflammation
Hepatosplenomegaly, Lymphadenopathy OMIM:619644
Proteasome-Associated Autoinflammatory Syndrome 2
Lymphadenopathy OMIM:618048
Cyclic Neutropenia
Cervical lymphadenopathy, Lymphadenopathy, Recurrent tonsillitis ORPHA:2686
Hypocomplementemic Urticarial Vasculitis
Ataxia, Lymphadenopathy, Splenomegaly ORPHA:36412
American Trypanosomiasis
Lymphadenopathy, Splenomegaly ORPHA:3386
Hemophagocytic Lymphohistiocytosis, Familial, 2
Ataxia, Splenomegaly, Hepatosplenomegaly, Lymphadenopathy, Irritability OMIM:603553
Primary Myelofibrosis
Hepatosplenomegaly, Lymphadenopathy, Splenomegaly ORPHA:824
Medullary Thyroid Carcinoma
Lymphadenopathy ORPHA:1332
Legionnaires Disease
Bone marrow hypocellularity, Ataxia, Lymphadenopathy, Splenomegaly ORPHA:549
Anaplastic Thyroid Carcinoma
Lymphadenopathy ORPHA:142
Melkersson-Rosenthal Syndrome
Lymphadenopathy ORPHA:2483
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphadenopathy, Splenomegaly OMIM:616100
Diffuse Cutaneous Mastocytosis
Lymphadenopathy, Abnormality of the spleen ORPHA:79456
Immunodeficiency 97 With Autoinflammation
Hepatosplenomegaly, Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly OMIM:619802
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphadenopathy OMIM:617718
Aggressive Systemic Mastocytosis
Hepatosplenomegaly, Lymphadenopathy, Hypersplenism ORPHA:98850
Omenn Syndrome
Lymphadenopathy, Splenomegaly ORPHA:39041
Thymic Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Mediastinal lymphadenopathy, Neoplasm of the thymus ORPHA:97289
Mevalonic Aciduria
Ataxia, Progressive cerebellar ataxia, Fluctuating splenomegaly, Hepatosplenomegaly, Lymphadenopathy OMIM:610377
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly OMIM:301078
Felty Syndrome
Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly ORPHA:47612
Cinca Syndrome
Lymphadenopathy, Splenomegaly ORPHA:1451
Combined Immunodeficiency Due To Crac Channel Dysfunction
Lymphadenopathy, Splenomegaly ORPHA:169090
Hereditary Amyloidosis With Primary Renal Involvement
Hepatosplenomegaly, Lymphadenopathy, Abnormality of the lymph nodes ORPHA:85450
Lymphoproliferative Syndrome 1
Lymphadenopathy, Splenomegaly OMIM:613011
Pancreatoblastoma
Abnormality of the lymph nodes ORPHA:677
Gamma-Heavy Chain Disease
Lymphadenopathy, Splenomegaly ORPHA:100026
Castleman Disease
Generalized lymphadenopathy, Lymphadenopathy, Mediastinal lymphadenopathy, Follicular hyperplasia ORPHA:160
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Hepatosplenomegaly, Lymphadenopathy ORPHA:169154
Chediak-Higashi Syndrome
Gait disturbance, Ataxia, Lymphadenopathy, Splenomegaly OMIM:214500
Macrophage Activation Syndrome
Lymphadenopathy, Splenomegaly ORPHA:158061
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hepatosplenomegaly, Lymphadenopathy, Enlarged tonsils OMIM:606367
Cutaneous Neuroendocrine Carcinoma
Chronic noninfectious lymphadenopathy ORPHA:79140
Mixed Connective Tissue Disease
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly ORPHA:809
Graft Versus Host Disease
Hepatosplenomegaly, Lymphadenopathy, Irritability ORPHA:39812
Lig4 Syndrome
Lymphadenopathy ORPHA:99812
Immunodeficiency, Common Variable, 8, With Autoimmunity
Generalized lymphadenopathy, Lymphadenopathy, Splenomegaly OMIM:614700
Familial Hemophagocytic Lymphohistiocytosis
Lymphadenopathy, Splenomegaly ORPHA:540
Immunodeficiency With Hyper-Igm, Type 1
Enlarged tonsils, Absence of lymph node germinal center, Splenomegaly OMIM:308230
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Lymphadenopathy OMIM:304790
Kikuchi-Fujimoto Disease
Ataxia, Abnormality of the lymph nodes, Cervical lymphadenopathy, Splenomegaly, Generalized lymph... ORPHA:50918
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Generalized lymphadenopathy, Lymphadenitis, Hepatosplenomegaly OMIM:618986
Acute Interstitial Pneumonia
Lymphadenopathy ORPHA:79126
Waldenström Macroglobulinemia
Ataxia, Lymphadenopathy, Splenomegaly ORPHA:33226
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Lymphadenitis, Lymphadenopathy, Splenomegaly OMIM:615895
Hyper-Igd Syndrome
Hepatosplenomegaly, Lymphadenitis, Lymphadenopathy, Splenomegaly OMIM:260920
Pulmonary Capillary Hemangiomatosis
Lymphadenopathy, Mediastinal lymphadenopathy ORPHA:199241
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Lymphadenitis, Lymphadenopathy, Splenomegaly OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Lymphadenitis, Lymphadenopathy, Splenomegaly OMIM:233710
Proteasome-Associated Autoinflammatory Syndrome 3
Lymphadenopathy, Splenomegaly OMIM:617591
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Lymphadenopathy OMIM:617099
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Lymphadenitis, Lymphadenopathy, Splenomegaly OMIM:233690
Malt Lymphoma
Lymphadenopathy, Mediastinal lymphadenopathy ORPHA:52417
Pediatric Systemic Lupus Erythematosus
Lymphadenopathy ORPHA:93552
Riddle Syndrome
Gait disturbance, Generalized lymphadenopathy, Ataxia, Emotional lability ORPHA:420741
Agammaglobulinemia, X-Linked
Lymph node hypoplasia OMIM:300755
Carney Triad
Lymphadenopathy, Mediastinal lymphadenopathy ORPHA:139411
Acute Promyelocytic Leukemia
Lymphadenopathy ORPHA:520
Lymphatic Filariasis
Lymphangiectasis, Lymphadenitis, Lymphadenopathy, Abnormality of the lymphatic system ORPHA:2035
Drug Reaction With Eosinophilia And Systemic Symptoms
Lymphadenopathy ORPHA:139402
Chédiak-Higashi Syndrome
Ataxia, Inability to walk, Splenomegaly, Hepatosplenomegaly, Gait disturbance, Lymphadenopathy ORPHA:167
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatosplenomegaly, Absence of lymph node germinal center ORPHA:79124
Farber Disease
Hepatosplenomegaly, Lymphadenopathy ORPHA:333
Immunodeficiency 55
Lymphadenopathy OMIM:617827
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Ataxia, Splenomegaly, Hepatosplenomegaly, Bone marrow hypocellularity, Lymphadenopathy OMIM:615688
Familial Pancreatic Carcinoma
Hepatosplenomegaly, Lymphadenopathy ORPHA:1333
Systemic Mastocytosis With Associated Hematologic Neoplasm
Lymphadenopathy, Splenomegaly ORPHA:98849
Histiocytosis-Lymphadenopathy Plus Syndrome
Cervical lymphadenopathy, Hepatosplenomegaly, Lymphadenopathy, Splenomegaly OMIM:602782
Poems Syndrome
Lymphadenopathy ORPHA:2905
Chikungunya
Cervical lymphadenopathy, Depression, Lymphadenopathy, Diminished motivation ORPHA:324625
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Absent peripheral lymph nodes in presence of infection OMIM:600802
H Syndrome
Hepatosplenomegaly, Lymphadenopathy ORPHA:168569
African Trypanosomiasis
Akinesia, Apathy, Splenomegaly, Hepatosplenomegaly, Anxiety, Gait disturbance, Difficulty walking... ORPHA:3385
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Polysplenia, Lymphadenopathy, Splenomegaly OMIM:619418
Q Fever
Hepatosplenomegaly, Lymphadenopathy, Splenomegaly ORPHA:781
Behçet Disease
Ataxia, Splenomegaly, Gait disturbance, Lymphadenopathy, Irritability ORPHA:117
Granulomatous Disease, Chronic, X-Linked
Lymphadenitis, Lymphadenopathy, Splenomegaly OMIM:306400
Common Variable Immunodeficiency
Lymphadenopathy, Splenomegaly ORPHA:1572
Thymic Aplasia
Lymphadenopathy, Aplasia of the thymus ORPHA:83471
Selective Igm Deficiency
Lymphadenitis, Lymphadenopathy ORPHA:331235
Cherubism
Submandibular lymph node enlargement OMIM:118400
Spondyloenchondrodysplasia With Immune Dysregulation
Lymphadenopathy OMIM:607944
Tangier Disease
Chronic noninfectious lymphadenopathy, Hepatosplenomegaly, Orange discolored tonsils ORPHA:31150
Autoimmune Lymphoproliferative Syndrome
Splenomegaly, Chronic noninfectious lymphadenopathy, Bone marrow hypocellularity, Lymphadenopathy... ORPHA:3261
Multiple Myeloma
Lymphadenopathy, Splenomegaly ORPHA:29073
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Hepatosplenomegaly, Lymphadenopathy ORPHA:85408
X-Linked Lymphoproliferative Disease
Enlarged tonsils, Splenomegaly, Cervical lymphadenopathy, Hepatosplenomegaly, Bone marrow hypocel... ORPHA:2442
Hennekam Syndrome
Pulmonary lymphangiectasia, Lymphangioma, Lymphadenopathy, Splenomegaly ORPHA:2136
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Lymphadenopathy, Splenomegaly ORPHA:37042
Lymphangioleiomyomatosis
Pulmonary lymphangiomyomatosis, Lymphadenopathy, Abnormality of the lymphatic system ORPHA:538
Cushing Syndrome Due To Ectopic Acth Secretion
Abnormality of the lymph nodes, Depression, Anxiety, Neoplasm of the thymus, Panic attack, Suicid... ORPHA:99889
Plague
Enlarged mesenteric lymph node, Splenomegaly, Depression, Lymphadenitis, Anxiety, Unsteady gait ORPHA:707
Coccidioidomycosis
Abnormality of the spleen, Lymphadenopathy, Mediastinal lymphadenopathy ORPHA:228123
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Lymphadenopathy, Splenomegaly ORPHA:32960
Adenocarcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424016
Ileal Neuroendocrine Tumor
Lymphadenopathy ORPHA:100078
Jejunal Neuroendocrine Tumor
Lymphadenopathy ORPHA:100077
Brucellosis
Depression, Lymphadenopathy, Hypersplenism, Splenomegaly ORPHA:1304
Familial Mediterranean Fever
Lymphadenopathy, Splenomegaly ORPHA:342
Primary Sjögren Syndrome
Depression, Lymphadenopathy, Anxiety ORPHA:289390
Marburg Hemorrhagic Fever
Lymphadenopathy, Aggressive behavior, Lethargy ORPHA:99826
Duodenal Neuroendocrine Tumor
Lymphadenopathy ORPHA:100076
Autosomal Recessive Malignant Osteopetrosis
Lymphadenopathy, Splenomegaly ORPHA:667
Igg4-Related Submandibular Gland Disease
Lymphadenopathy ORPHA:449432
Crimean-Congo Hemorrhagic Fever
Emotional lability, Lymphadenopathy, Splenomegaly ORPHA:99827
Igg4-Related Kidney Disease
Lymphadenitis, Lymphadenopathy ORPHA:449395
Sarcoidosis
Lymphadenopathy, Abnormality of the lymph nodes ORPHA:797
Proteasome-Associated Autoinflammatory Syndrome 1
Lymphadenopathy, Splenomegaly OMIM:256040
Immunodeficiency 82 With Systemic Inflammation
Follicular hyperplasia, Lymphadenopathy, Splenomegaly OMIM:619381
Igg4-Related Dacryoadenitis And Sialadenitis
Lymphadenopathy ORPHA:79078
Igg4-Related Ophthalmic Disease
Lymphadenopathy ORPHA:449563
Blau Syndrome
Lymphadenopathy, Splenomegaly ORPHA:90340
Leptospirosis
Lymphadenopathy ORPHA:509

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 Ap5m1

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 Ap5m1.

No publications found that use IMPC mice or data for Ap5m1.

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MGI Allele Allele Type Produced
Ap5m1em1(IMPC)Mbp Exon Deletion Mice, Tissue
Ap5m1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ap5m1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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