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Gene: Carmil3 MGI:2448573

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Gene Summary

Name:
capping protein regulator and myosin 1 linker 3
Synonyms:
Lrrc16b

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IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
enlarged lymph nodes Carmil3em1(IMPC)Mbp HOM Early adult 0.00
abnormal skin morphology Carmil3em1(IMPC)Mbp HOM Early adult 0.00
abnormal kidney morphology Carmil3em1(IMPC)Mbp HOM Early adult 0.00
decreased exploration in new environment Carmil3em1(IMPC)Mbp HOM Early adult 3.24×10-06
abnormal lymph node morphology Carmil3em1(IMPC)Mbp HOM Early adult 0.00

Download data as:  TSV  XLS

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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

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Human diseases caused by Carmil3 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 Carmil3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
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
Axillary lymphadenopathy, Inguinal lymphadenopathy, Lymphadenopathy OMIM:616126
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center OMIM:235550
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Follicular hyperplasia ORPHA:60026
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Follicular hyperplasia, Lymphadenopathy OMIM:619126
Kerion Celsi
Lymphadenopathy ORPHA:499
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Granulomatous Slack Skin
Acute kidney injury, Nephrocalcinosis, Abnormal lymph node morphology ORPHA:33111
Kimura Disease
Follicular hyperplasia, Lymphadenopathy ORPHA:482
Immunodeficiency 104
Splenomegaly, Lymphadenopathy OMIM:608971
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Splenomegaly, Lymphadenopathy OMIM:618852
Immunodeficiency 32A
Lymphadenitis, Lymphadenopathy OMIM:614893
Mast Cell Sarcoma
Mediastinal lymphadenopathy, Splenomegaly, Lymphadenopathy ORPHA:66661
Mu-Heavy Chain Disease
Nephropathy, Bence Jones Proteinuria, Splenomegaly, Lymphadenopathy ORPHA:100024
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Splenomegaly, Lymphadenopathy ORPHA:444463
Follicular Lymphoma
Mediastinal lymphadenopathy, Splenomegaly, Lymphadenopathy ORPHA:545
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Lymphadenopathy OMIM:618261
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:86893
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology ORPHA:97290
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy OMIM:608106
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 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Lymphadenopathy OMIM:619220
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Hepatosplenomegaly, Lymphadenopathy OMIM:618982
Immunodeficiency 76
Splenomegaly, Lymphadenopathy OMIM:619164
Autoimmune Lymphoproliferative Syndrome, Type Iii
Hepatosplenomegaly, Stage 5 chronic kidney disease, Follicular hyperplasia, Splenomegaly, General... OMIM:615559
Alpha-Heavy Chain Disease
Splenomegaly, Lymphadenopathy ORPHA:100025
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center OMIM:606843
Rosaï-Dorfman Disease
Lymphadenopathy ORPHA:158014
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
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, Abnormal lymph node morphology ORPHA:543
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy OMIM:300853
Congenital Toxoplasmosis
Cognitive impairment, Lymphadenopathy ORPHA:858
Immunodeficiency 64 With Lymphoproliferation
Cervical lymphadenopathy, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Mediastinal lymphade... OMIM:618534
Pfapa Syndrome
Splenomegaly, Lymphadenopathy ORPHA:42642
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy OMIM:618987
Hemophagocytic Lymphohistiocytosis, Familial, 4
Splenomegaly, Lymphadenopathy OMIM:603552
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hepatosplenomegaly, Splenomegaly, Lymphadenopathy OMIM:613101
Tularemia
Cervical lymphadenopathy, Confusion, Abnormal nasopharyngeal adenoid morphology, Lymphadenopathy,... ORPHA:3392
Immunodeficiency, Common Variable, 2
Splenomegaly, Follicular hyperplasia, Lymphadenopathy OMIM:240500
Fish-Eye Disease
Splenomegaly, Lymphadenopathy ORPHA:79292
Rhabdoid Tumor
Hematuria, Lymphadenopathy, Irritability ORPHA:69077
Immunodeficiency With Hyper-Igm, Type 4
Absence of lymph node germinal center OMIM:608184
Immunodeficiency 27A
Enlarged mesenteric lymph node, Hepatosplenomegaly, Lymphadenopathy, Splenomegaly OMIM:209950
Caspase 8 Deficiency
Splenomegaly, Lymphadenopathy OMIM:607271
Cold Agglutinin Disease
Lymphadenopathy, Splenomegaly, Abnormal urinary color ORPHA:56425
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Lymph node hypoplasia, Splenomegaly, Aplasia of the thymus, Generalized lymphadenopathy, Absent t... OMIM:602450
Immunodeficiency 103, Susceptibility To Fungal Infections
Lymphadenopathy OMIM:212050
Leukocyte Adhesion Deficiency, Type Iii
Hepatosplenomegaly, Splenomegaly, Abnormal lymph node morphology OMIM:612840
Pleural Mesothelioma
Lymphadenopathy ORPHA:50251
Immunodeficiency 109 With Lymphoproliferation
Generalized lymphadenopathy, Splenomegaly OMIM:620282
Immune Dysregulation, Autoimmunity, And Autoinflammation
Cervical lymphadenopathy, Inguinal lymphadenopathy OMIM:620514
Immunodeficiency 52
Splenomegaly, Lymphadenopathy OMIM:617514
Familial Cold Autoinflammatory Syndrome 2
Splenomegaly, Lymphadenopathy OMIM:611762
Classic Mycosis Fungoides
Splenomegaly, Lymphadenopathy ORPHA:2584
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Splenomegaly, Glomerulonephritis, Lymphadenopathy OMIM:619375
Heme Oxygenase 1 Deficiency
Nephritis, Cervical lymphadenopathy, Hematuria, Proteinuria, Lymphadenopathy, Asplenia OMIM:614034
Pseudomyxoma Peritonei
Lymphadenopathy ORPHA:26790
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, Absence of lymph node germinal center ORPHA:277
Aregenerative Anemia
Bone marrow hypocellularity, Depression, Emotional lability, Cognitive impairment, Lymphadenopath... ORPHA:101096
Activated Pi3K-Delta Syndrome
Splenomegaly, Recurrent tonsillitis, Lymphadenopathy ORPHA:397596
Classic Hodgkin Lymphoma
Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly ORPHA:391
Schnitzler Syndrome
Splenomegaly, Lymphadenopathy ORPHA:37748
Immunodeficiency 105
Hepatosplenomegaly, Absence of lymph node germinal center OMIM:619924
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Splenomegaly, Lymphadenopathy OMIM:618495
Nephroblastoma
Hematuria, Lymphadenopathy ORPHA:654
Indolent Systemic Mastocytosis
Splenomegaly, Lymphadenopathy ORPHA:98848
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Splenomegaly, Lymphadenopathy OMIM:150550
Immunodeficiency 54
Splenomegaly, Lymphadenopathy OMIM:609981
Papa Syndrome
Proteinuria, Lymphadenopathy ORPHA:69126
Immunodeficiency, Common Variable, 1
Splenomegaly, Lymphadenopathy OMIM:607594
Middle Ear Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100084
Hereditary Amyloidosis With Primary Renal Involvement
Nephropathy, Abnormal urinary electrolyte concentration, Abnormal lymph node morphology, Decrease... ORPHA:85450
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphadenitis, Abnormal lymph node morphology, Hepatosplenomegaly, Lymphadenopathy, Nephrotic syn... ORPHA:911
Niemann-Pick Disease, Type A
Splenomegaly, Lymphadenopathy, Irritability OMIM:257200
Boutonneuse Fever
Cervical lymphadenopathy, Renal insufficiency, Lymphadenopathy ORPHA:83313
Ras-Associated Autoimmune Leukoproliferative Disorder
Splenomegaly, Follicular hyperplasia OMIM:614470
Autoimmune Lymphoproliferative Syndrome, Type Iia
Nephritis, Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Splenomegaly, Lymphaden... OMIM:603909
Immunodeficiency 7
Splenomegaly, Lymphadenopathy OMIM:615387
Immunodeficiency 91 And Hyperinflammation
Hepatosplenomegaly, Renal insufficiency, Lymphadenopathy, Membranoproliferative glomerulonephriti... OMIM:619644
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent tonsillitis, Lymphadenitis, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Nephroti... OMIM:618935
Lymphoproliferative Syndrome 2
Splenomegaly, Hepatosplenomegaly, Lymphadenopathy OMIM:615122
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormality of the lymphatic system, Abnormal lymph node morphology ORPHA:54251
Griscelli Syndrome Type 2
Splenomegaly, Lymphadenopathy ORPHA:79477
Cinca Syndrome
Hepatosplenomegaly, Lymphadenopathy OMIM:607115
Castleman Disease
Ureteral obstruction, Renal insufficiency, Follicular hyperplasia, Hematuria, Generalized lymphad... ORPHA:160
Roifman Syndrome
Splenomegaly, Lymphadenopathy OMIM:616651
Roifman Syndrome
Hepatosplenomegaly, Lymphadenopathy ORPHA:353298
Acquired Hypertrichosis Lanuginosa
Lymphadenopathy ORPHA:2221
Systemic-Onset Juvenile Idiopathic Arthritis
Splenomegaly, Lymphadenopathy ORPHA:85414
Scrub Typhus
Splenomegaly, Renal insufficiency, Lymphadenopathy ORPHA:83317
Thyroid Lymphoma
Lymphadenopathy ORPHA:97285
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly ORPHA:3226
Purine Nucleoside Phosphorylase Deficiency
Decreased urinary urate, Elevated urinary inosine level, Lymph node hypoplasia, Splenomegaly, Ele... OMIM:613179
Desmoplastic Small Round Cell Tumor
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:83469
Leishmaniasis
Splenomegaly, Lymphadenopathy ORPHA:507
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Hepatosplenomegaly, Lymphadenopathy OMIM:619750
Autoimmune Lymphoproliferative Syndrome
Splenomegaly, Chronic noninfectious lymphadenopathy, Follicular hyperplasia OMIM:601859
Thymic Neuroendocrine Tumor
Neoplasm of the thymus, Calcium nephrolithiasis, Mediastinal lymphadenopathy, Chronic noninfectio... ORPHA:97289
Melkersson-Rosenthal Syndrome
Oligosacchariduria, Lymphadenopathy ORPHA:2483
Squamous Cell Carcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424019
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Absent tonsils, Lymph node hypoplasia ORPHA:276
Pulmonary Non-Tuberculous Mycobacterial Infection
Lymphadenopathy ORPHA:411703
Sézary Syndrome
Splenomegaly, Lymphadenopathy ORPHA:3162
Proteasome-Associated Autoinflammatory Syndrome 4
Splenomegaly, Lymphadenopathy OMIM:619183
Pediatric Systemic Lupus Erythematosus
Nephritis, Dark urine, Renal insufficiency, Hematuria, Proteinuria, Cognitive impairment, Lymphad... ORPHA:93552
Griscelli Syndrome
Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly ORPHA:381
Omenn Syndrome
Nephrotic syndrome, Lymphadenopathy, Splenomegaly ORPHA:39041
Primary Myelofibrosis
Splenomegaly, Hepatosplenomegaly, Lymphadenopathy ORPHA:824
Lymphoproliferative Syndrome, X-Linked, 1
Splenomegaly, Lymphadenopathy OMIM:308240
Hypocomplementemic Urticarial Vasculitis
Renal insufficiency, Splenomegaly, Hematuria, Proteinuria, Lymphadenopathy ORPHA:36412
Tafro Syndrome
Hepatosplenomegaly, Renal insufficiency, Splenomegaly, Lymphadenopathy ORPHA:457077
Immunodeficiency 10
Nephrotic syndrome, Lymphadenopathy, Splenomegaly OMIM:612783
Anaplastic Thyroid Carcinoma
Lymphadenopathy ORPHA:142
American Trypanosomiasis
Splenomegaly, Lymphadenopathy ORPHA:3386
Proteasome-Associated Autoinflammatory Syndrome 2
Lymphadenopathy OMIM:618048
Cyclic Neutropenia
Cervical lymphadenopathy, Recurrent tonsillitis, Lymphadenopathy ORPHA:2686
Legionnaires Disease
Bone marrow hypocellularity, Renal insufficiency, Splenomegaly, Hematuria, Proteinuria, Lymphaden... ORPHA:549
Lymphatic Filariasis
Urethral obstruction, Lymphadenitis, Abnormality of the lymphatic system, Hematuria, Proteinuria,... ORPHA:2035
Klatskin Tumor
Lymphadenopathy ORPHA:99978
Pancreatoblastoma
Abnormal lymph node morphology ORPHA:677
Medullary Thyroid Carcinoma
Lymphadenopathy ORPHA:1332
Immunodeficiency 97 With Autoinflammation
Splenomegaly, Hepatosplenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy OMIM:619802
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Absent peripheral lymph nodes in presence of infection ORPHA:98813
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Splenomegaly, Lymphadenopathy OMIM:616100
Diffuse Cutaneous Mastocytosis
Abnormality of the spleen, Lymphadenopathy ORPHA:79456
Aggressive Systemic Mastocytosis
Hepatosplenomegaly, Lymphadenopathy, Hypersplenism ORPHA:98850
Neuroblastoma
Elevated urinary homovanillic acid, Elevated urinary vanillylmandelic acid, Elevated urinary cate... ORPHA:635
Adult-Onset Still Disease
Bone marrow hypocellularity, Splenomegaly, Proteinuria, Generalized lymphadenopathy, Lymphadenopathy ORPHA:829
Hemophagocytic Lymphohistiocytosis, Familial, 1
Splenomegaly, Lymphadenopathy, Irritability OMIM:267700
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly OMIM:301078
Cinca Syndrome
Splenomegaly, Lymphadenopathy ORPHA:1451
Hemophagocytic Lymphohistiocytosis, Familial, 2
Splenomegaly, Hepatosplenomegaly, Lymphadenopathy, Irritability OMIM:603553
Omenn Syndrome
Hypoplasia of the thymus, Splenomegaly, Lymphadenopathy OMIM:603554
Gamma-Heavy Chain Disease
Splenomegaly, Lymphadenopathy ORPHA:100026
Lymphoproliferative Syndrome 1
Splenomegaly, Lymphadenopathy OMIM:613011
Lig4 Syndrome
Hypoplasia of penis, Lymphadenopathy ORPHA:99812
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Glomerulonephritis, Lymphadenopathy OMIM:304790
Felty Syndrome
Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly ORPHA:47612
Lymphangioleiomyomatosis
Abnormal urinary color, Pulmonary lymphangiomyomatosis, Abnormality of the lymphatic system, Hema... ORPHA:538
Combined Immunodeficiency Due To Crac Channel Dysfunction
Splenomegaly, Lymphadenopathy ORPHA:169090
Drug Reaction With Eosinophilia And Systemic Symptoms
Tubulointerstitial nephritis, Nephrotic syndrome, Renal insufficiency, Lymphadenopathy ORPHA:139402
Mixed Connective Tissue Disease
Nephropathy, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:809
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Hepatosplenomegaly, Lymphadenopathy ORPHA:169154
Hyper-Igd Syndrome
Lymphadenitis, Hepatosplenomegaly, Splenomegaly, Elevated urine mevalonic acid level, Renal angio... OMIM:260920
Waldenström Macroglobulinemia
Splenomegaly, Memory impairment, Renal insufficiency, Lymphadenopathy ORPHA:33226
Familial Hemophagocytic Lymphohistiocytosis
Splenomegaly, Lymphadenopathy, Abnormal renal physiology ORPHA:540
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Lymphadenitis, Vesicoureteral reflux, Lymphadenopathy, Splenomegaly OMIM:615895
Mevalonic Aciduria
Fluctuating splenomegaly, Hepatosplenomegaly, Lymphadenopathy, Elevated urine mevalonic acid level OMIM:610377
Acute Monoblastic/Monocytic Leukemia
Cervical lymphadenopathy, Oliguria ORPHA:514
Graft Versus Host Disease
Hepatosplenomegaly, Lymphadenopathy, Irritability ORPHA:39812
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Enlarged tonsils, Hepatosplenomegaly, Lymphadenopathy OMIM:606367
Hyperimmunoglobulinemia D With Periodic Fever
Lymphadenopathy ORPHA:343
Immunodeficiency, Common Variable, 8, With Autoimmunity
Splenomegaly, Generalized lymphadenopathy, Lymphadenopathy OMIM:614700
Macrophage Activation Syndrome
Splenomegaly, Lymphadenopathy ORPHA:158061
Immunodeficiency With Hyper-Igm, Type 1
Enlarged tonsils, Splenomegaly, Absence of lymph node germinal center OMIM:308230
Cutaneous Neuroendocrine Carcinoma
Chronic noninfectious lymphadenopathy ORPHA:79140
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Splenomegaly, Lymphadenopathy ORPHA:436159
Joint Contractures, Osteochondromas, And B-Cell Lymphoma
Generalized lymphadenopathy OMIM:620232
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Hepatosplenomegaly, Generalized lymphadenopathy, Lymphadenitis OMIM:618986
Acute Interstitial Pneumonia
Lymphadenopathy ORPHA:79126
Acute Promyelocytic Leukemia
Hematuria, Lymphadenopathy ORPHA:520
Pulmonary Capillary Hemangiomatosis
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:199241
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Splenomegaly, Lymphadenitis, Lymphadenopathy OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Splenomegaly, Lymphadenitis, Lymphadenopathy OMIM:233710
Familial Mediterranean Fever
Nephropathy, Nephrocalcinosis, Depression, Splenomegaly, Proteinuria, Lymphadenopathy, Nephrotic ... ORPHA:342
Malt Lymphoma
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:52417
Acute Generalized Exanthematous Pustulosis
Renal insufficiency, Lymphadenopathy ORPHA:293173
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatosplenomegaly, Absence of lymph node germinal center, Urinary retention ORPHA:79124
Proteasome-Associated Autoinflammatory Syndrome 3
Splenomegaly, Lymphadenopathy OMIM:617591
Multiple Myeloma
Nephropathy, Acute kidney injury, Splenomegaly, Lymphadenopathy, Nephrotic syndrome ORPHA:29073
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Lymphadenopathy OMIM:617099
H Syndrome
Micropenis, Hepatosplenomegaly, Enlarged kidney, Lymphadenopathy ORPHA:168569
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Splenomegaly, Lymphadenitis, Lymphadenopathy OMIM:233690
Igg4-Related Kidney Disease
Chronic kidney disease, Acute kidney injury, Lymphadenitis, Urinary bladder inflammation, Urethri... ORPHA:449395
Malakoplakia
Urinary bladder inflammation, Urinary hesitancy, Follicular hyperplasia, Hematuria, Proteinuria, ... ORPHA:556
Agammaglobulinemia, X-Linked
Lymph node hypoplasia OMIM:300755
Histiocytosis-Lymphadenopathy Plus Syndrome
Cervical lymphadenopathy, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Micropenis OMIM:602782
Carney Triad
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:139411
Hennekam Syndrome
Horseshoe kidney, Splenomegaly, Lymphadenopathy, Pulmonary lymphangiectasia, Lymphangioma, Ectopi... ORPHA:2136
Farber Disease
Hepatosplenomegaly, Lymphadenopathy ORPHA:333
Kikuchi-Fujimoto Disease
Abnormal lymph node morphology, Cervical lymphadenopathy, Splenomegaly, Generalized lymphadenopat... ORPHA:50918
Poems Syndrome
Splenomegaly, Lymphadenopathy ORPHA:2905
Q Fever
Hematuria, Splenomegaly, Hepatosplenomegaly, Lymphadenopathy ORPHA:781
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Splenomegaly, Membranous nephropathy, Lymphadenopathy, Tubulointerstitial nephritis, Nephrotic sy... ORPHA:37042
Congenital Syphilis
Nephrotic syndrome, Hepatosplenomegaly, Lymphadenopathy ORPHA:499009
Chediak-Higashi Syndrome
Splenomegaly, Lymphadenopathy OMIM:214500
Chédiak-Higashi Syndrome
Hepatosplenomegaly, Splenomegaly, Cognitive impairment, Lymphadenopathy, Dementia ORPHA:167
Spondyloenchondrodysplasia With Immune Dysregulation
Tubulointerstitial fibrosis, Lymphadenopathy OMIM:607944
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Cervical lymphadenopathy, Lymphadenopathy OMIM:617718
Systemic Mastocytosis With Associated Hematologic Neoplasm
Splenomegaly, Lymphadenopathy ORPHA:98849
Immunodeficiency 55
Lymphadenopathy OMIM:617827
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Splenomegaly, Lymphadenopathy, Polysplenia OMIM:619418
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Lymphadenopathy ORPHA:83471
Coccidioidomycosis
Abnormality of the spleen, Renal insufficiency, Cognitive impairment, Lymphadenopathy, Mediastina... ORPHA:228123
Familial Pancreatic Carcinoma
Hepatosplenomegaly, Lymphadenopathy ORPHA:1333
Common Variable Immunodeficiency
Splenomegaly, Lymphadenopathy ORPHA:1572
Behçet Disease
Memory impairment, Confusion, Renal insufficiency, Splenomegaly, Irritability, Lymphadenopathy ORPHA:117
Granulomatous Disease, Chronic, X-Linked
Splenomegaly, Lymphadenitis, Lymphadenopathy OMIM:306400
Systemic Lupus Erythematosus
Depression, Hematuria, Proteinuria, Lupus nephritis, Lymphadenopathy, Pyuria ORPHA:536
Autoimmune Lymphoproliferative Syndrome
Bone marrow hypocellularity, Hypersplenism, Renal insufficiency, Chronic noninfectious lymphadeno... ORPHA:3261
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Absent peripheral lymph nodes in presence of infection OMIM:600802
Cherubism
Submandibular lymph node enlargement OMIM:118400
Selective Igm Deficiency
Lymphadenitis, Lymphadenopathy ORPHA:331235
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Bone marrow hypocellularity, Hepatosplenomegaly, Lymphadenopathy, Splenomegaly OMIM:615688
Ileal Neuroendocrine Tumor
Hydronephrosis, Lymphadenopathy ORPHA:100078
Primary Sjögren Syndrome
Depression, Renal insufficiency, Glomerulonephritis, Cognitive impairment, Lymphadenopathy, Demen... ORPHA:289390
Tangier Disease
Hepatosplenomegaly, Orange discolored tonsils, Chronic noninfectious lymphadenopathy ORPHA:31150
Immunodeficiency 31C
Splenomegaly, Lymphadenopathy OMIM:614162
Chikungunya
Cervical lymphadenopathy, Depression, Lymphadenopathy ORPHA:324625
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Hepatosplenomegaly, Lymphadenopathy ORPHA:85408
Brucellosis
Depression, Hypersplenism, Splenomegaly, Glomerulonephritis, Lymphadenopathy ORPHA:1304
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Splenomegaly, Lymphadenopathy ORPHA:32960
Adenocarcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424016
Cushing Syndrome Due To Ectopic Acth Secretion
Memory impairment, Depression, Abnormal lymph node morphology, Increased urinary cortisol level, ... ORPHA:99889
Sarcoidosis
Nephrocalcinosis, Abnormal lymph node morphology, Renal insufficiency, Nephrolithiasis, Hypercalc... ORPHA:797
Igg4-Related Submandibular Gland Disease
Renal insufficiency, Lymphadenopathy ORPHA:449432
Crimean-Congo Hemorrhagic Fever
Confusion, Emotional lability, Splenomegaly, Hematuria, Proteinuria, Lymphadenopathy ORPHA:99827
Marburg Hemorrhagic Fever
Confusion, Renal insufficiency, Lymphadenopathy ORPHA:99826
Autosomal Recessive Malignant Osteopetrosis
Splenomegaly, Lymphadenopathy ORPHA:667
African Trypanosomiasis
Urinary incontinence, Hepatosplenomegaly, Renal insufficiency, Splenomegaly, Irritability, Lympha... ORPHA:3385
Blau Syndrome
Nephropathy, Splenomegaly, Stage 5 chronic kidney disease, Lymphadenopathy ORPHA:90340
Immunodeficiency 82 With Systemic Inflammation
Splenomegaly, Follicular hyperplasia, Lymphadenopathy OMIM:619381
Igg4-Related Dacryoadenitis And Sialadenitis
Tubulointerstitial nephritis, Lymphadenopathy ORPHA:79078
Proteasome-Associated Autoinflammatory Syndrome 1
Splenomegaly, Lymphadenopathy OMIM:256040
Leptospirosis
Acute kidney injury, Cellular urinary casts, Lymphadenopathy ORPHA:509
Igg4-Related Ophthalmic Disease
Lymphadenopathy ORPHA:449563

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 Carmil3

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 Carmil3.

No publications found that use IMPC mice or data for Carmil3.

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MGI Allele Allele Type Produced
Carmil3tm212309(L1L2_Bact_P) Reporter-tagged deletion allele (with selection cassette) Targeting vectors
Carmil3em1(IMPC)Mbp Inter-exon deletion Mice, Tissue

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