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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
abnormal skin 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
enlarged lymph nodes Carmil3em1(IMPC)Mbp HOM Early adult 0.00
abnormal kidney morphology Carmil3em1(IMPC)Mbp HOM Early adult 0.00

Download data as:  TSV  XLS

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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
Lymphadenopathy OMIM:616126
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center OMIM:235550
Hereditary Progressive Mucinous Histiocytosis
Lymphadenopathy ORPHA:158025
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
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Lymphadenopathy, Follicular hyperplasia OMIM:619126
Kerion Celsi
Lymphadenopathy ORPHA:499
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Granulomatous Slack Skin
Nephrocalcinosis, Acute kidney injury, Abnormal lymph node morphology ORPHA:33111
Kimura Disease
Lymphadenopathy, Follicular hyperplasia ORPHA:482
Immunodeficiency 104
Splenomegaly, Lymphadenopathy OMIM:608971
Autoinflammation With Episodic Fever And Lymphadenopathy
Splenomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Immunodeficiency 32A
Lymphadenitis, Lymphadenopathy OMIM:614893
Mast Cell Sarcoma
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:66661
Mu-Heavy Chain Disease
Splenomegaly, Nephropathy, Bence Jones Proteinuria, Lymphadenopathy ORPHA:100024
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Splenomegaly, Lymphadenopathy ORPHA:444463
Follicular Lymphoma
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:545
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Lymphadenopathy OMIM:618261
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:86893
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy OMIM:608106
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 78 With Autoimmunity And Developmental Delay
Lymphadenopathy, Fluctuating splenomegaly OMIM:619220
Immunodeficiency 76
Splenomegaly, Lymphadenopathy OMIM:619164
Autoimmune Lymphoproliferative Syndrome, Type Iii
Generalized lymphadenopathy, Follicular hyperplasia, Mediastinal lymphadenopathy, Splenomegaly, S... OMIM:615559
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Hepatosplenomegaly, Lymphadenopathy OMIM:618982
Rosaï-Dorfman Disease
Lymphadenopathy ORPHA:158014
Alpha-Heavy Chain Disease
Splenomegaly, Lymphadenopathy ORPHA:100025
Generalized Eruptive Histiocytosis
Lymphadenopathy ORPHA:157991
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center OMIM:606843
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100083
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Lymphadenopathy, Follicular hyperplasia 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
Immunodeficiency 52
Splenomegaly, Lymphadenopathy OMIM:617514
Immunodeficiency, Common Variable, 2
Splenomegaly, Follicular hyperplasia, Lymphadenopathy OMIM:240500
Congenital Toxoplasmosis
Cognitive impairment, Lymphadenopathy ORPHA:858
Immunodeficiency 64 With Lymphoproliferation
Splenomegaly, Mediastinal lymphadenopathy, Cervical lymphadenopathy, Lymphadenopathy, Hepatosplen... OMIM:618534
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy OMIM:618987
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly OMIM:613101
Pfapa Syndrome
Splenomegaly, Lymphadenopathy ORPHA:42642
Rhabdoid Tumor
Hematuria, Irritability, Lymphadenopathy ORPHA:69077
Hemophagocytic Lymphohistiocytosis, Familial, 4
Splenomegaly, Lymphadenopathy OMIM:603552
Tularemia
Confusion, Abnormal nasopharyngeal adenoid morphology, Cervical lymphadenopathy, Mediastinal lymp... ORPHA:3392
Fish-Eye Disease
Splenomegaly, Lymphadenopathy ORPHA:79292
Immunodeficiency With Hyper-Igm, Type 4
Absence of lymph node germinal center OMIM:608184
Immunodeficiency 103, Susceptibility To Fungal Infections
Lymphadenopathy OMIM:212050
Immunodeficiency 27A
Splenomegaly, Enlarged mesenteric lymph node, Lymphadenopathy, Hepatosplenomegaly OMIM:209950
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Generalized lymphadenopathy, Aplasia of the thymus, Splenomegaly, Lymph node hypoplasia, Absent t... OMIM:602450
Cold Agglutinin Disease
Splenomegaly, Abnormal urinary color, Lymphadenopathy ORPHA:56425
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Leukocyte Adhesion Deficiency, Type Iii
Splenomegaly, Abnormal lymph node morphology, Hepatosplenomegaly OMIM:612840
Caspase 8 Deficiency
Splenomegaly, Lymphadenopathy OMIM:607271
Heme Oxygenase 1 Deficiency
Proteinuria, Asplenia, Cervical lymphadenopathy, Lymphadenopathy, Hematuria, Nephritis OMIM:614034
Familial Cold Autoinflammatory Syndrome 2
Splenomegaly, Lymphadenopathy OMIM:611762
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Splenomegaly, Glomerulonephritis, Lymphadenopathy OMIM:619375
Immunodeficiency 109 With Lymphoproliferation
Splenomegaly, Generalized lymphadenopathy OMIM:620282
Classic Mycosis Fungoides
Splenomegaly, Lymphadenopathy ORPHA:2584
Pleural Mesothelioma
Lymphadenopathy ORPHA:50251
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, Absence of lymph node germinal center ORPHA:277
Schnitzler Syndrome
Splenomegaly, Lymphadenopathy ORPHA:37748
Pseudomyxoma Peritonei
Lymphadenopathy ORPHA:26790
Aregenerative Anemia
Depression, Lymphadenopathy, Dementia, Bone marrow hypocellularity, Cognitive impairment, Emotion... ORPHA:101096
Activated Pi3K-Delta Syndrome
Splenomegaly, Recurrent tonsillitis, Lymphadenopathy ORPHA:397596
Immunodeficiency 105
Hepatosplenomegaly, Absence of lymph node germinal center OMIM:619924
Classic Hodgkin Lymphoma
Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy ORPHA:391
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Splenomegaly, Lymphadenopathy OMIM:618495
Nephroblastoma
Hematuria, Lymphadenopathy ORPHA:654
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Splenomegaly, Lymphadenopathy OMIM:150550
Immunodeficiency 54
Splenomegaly, Lymphadenopathy OMIM:609981
Indolent Systemic Mastocytosis
Splenomegaly, Lymphadenopathy ORPHA:98848
Immunodeficiency, Common Variable, 1
Splenomegaly, Lymphadenopathy OMIM:607594
Middle Ear Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100084
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphadenitis, Abnormal lymph node morphology, Lymphadenopathy, Nephrotic syndrome, Hepatosplenom... ORPHA:911
Niemann-Pick Disease, Type A
Splenomegaly, Irritability, Lymphadenopathy OMIM:257200
Papa Syndrome
Proteinuria, Lymphadenopathy ORPHA:69126
Hereditary Amyloidosis With Primary Renal Involvement
Renal insufficiency, Proteinuria, Nocturia, Abnormal lymph node morphology, Lymphadenopathy, Tubu... ORPHA:85450
Ras-Associated Autoimmune Leukoproliferative Disorder
Splenomegaly, Follicular hyperplasia OMIM:614470
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Splenomegaly, Lymphadenitis, Recurrent tonsillitis, Lymphadenopathy, Hepatosplenomegaly, Nephroti... OMIM:618935
Immunodeficiency 91 And Hyperinflammation
Renal insufficiency, Membranoproliferative glomerulonephritis, Hemolytic-uremic syndrome, Lymphad... OMIM:619644
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Lymphoproliferative Syndrome 2
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly OMIM:615122
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormality of the lymphatic system, Abnormal lymph node morphology ORPHA:54251
Immunodeficiency 7
Splenomegaly, Lymphadenopathy OMIM:615387
Boutonneuse Fever
Renal insufficiency, Cervical lymphadenopathy, Lymphadenopathy ORPHA:83313
Systemic-Onset Juvenile Idiopathic Arthritis
Splenomegaly, Lymphadenopathy ORPHA:85414
Autoimmune Lymphoproliferative Syndrome, Type Iia
Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Splenomegaly, Lymphadenopathy, Nep... OMIM:603909
Cinca Syndrome
Lymphadenopathy, Hepatosplenomegaly OMIM:607115
Immunodeficiency 10
Lymphadenopathy OMIM:612783
Melkersson-Rosenthal Syndrome
Oligosacchariduria, Lymphadenopathy ORPHA:2483
Griscelli Syndrome Type 2
Splenomegaly, Lymphadenopathy ORPHA:79477
Roifman Syndrome
Splenomegaly, Lymphadenopathy OMIM:616651
Acquired Hypertrichosis Lanuginosa
Lymphadenopathy ORPHA:2221
Roifman Syndrome
Lymphadenopathy, Hepatosplenomegaly ORPHA:353298
Castleman Disease
Renal insufficiency, Generalized lymphadenopathy, Follicular hyperplasia, Mediastinal lymphadenop... ORPHA:160
Deafness-Lymphedema-Leukemia Syndrome
Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy ORPHA:3226
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Lymphadenopathy, Hepatosplenomegaly OMIM:619750
Squamous Cell Carcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424019
Leishmaniasis
Splenomegaly, Lymphadenopathy ORPHA:507
Autoimmune Lymphoproliferative Syndrome
Splenomegaly, Chronic noninfectious lymphadenopathy, Follicular hyperplasia OMIM:601859
Thyroid Lymphoma
Lymphadenopathy ORPHA:97285
Desmoplastic Small Round Cell Tumor
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:83469
Scrub Typhus
Splenomegaly, Renal insufficiency, Lymphadenopathy ORPHA:83317
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymph node hypoplasia, Absent tonsils ORPHA:276
Cutaneous Mastocytoma
Lymphadenopathy ORPHA:79455
Thymic Neuroendocrine Tumor
Neoplasm of the thymus, Mediastinal lymphadenopathy, Chronic noninfectious lymphadenopathy, Calci... ORPHA:97289
Sézary Syndrome
Splenomegaly, Lymphadenopathy ORPHA:3162
Lymphoproliferative Syndrome, X-Linked, 1
Splenomegaly, Lymphadenopathy OMIM:308240
Proteasome-Associated Autoinflammatory Syndrome 4
Splenomegaly, Lymphadenopathy OMIM:619183
Griscelli Syndrome
Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy ORPHA:381
Pediatric Systemic Lupus Erythematosus
Dark urine, Renal insufficiency, Proteinuria, Lymphadenopathy, Hematuria, Nephrotic syndrome, Cog... ORPHA:93552
Pulmonary Non-Tuberculous Mycobacterial Infection
Lymphadenopathy ORPHA:411703
Omenn Syndrome
Splenomegaly, Nephrotic syndrome, Lymphadenopathy ORPHA:39041
Purine Nucleoside Phosphorylase Deficiency
Splenomegaly, Lymph node hypoplasia OMIM:613179
Cyclic Neutropenia
Cervical lymphadenopathy, Recurrent tonsillitis, Lymphadenopathy ORPHA:2686
Proteasome-Associated Autoinflammatory Syndrome 2
Lymphadenopathy OMIM:618048
Hypocomplementemic Urticarial Vasculitis
Renal insufficiency, Proteinuria, Splenomegaly, Lymphadenopathy, Hematuria ORPHA:36412
Primary Myelofibrosis
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly ORPHA:824
American Trypanosomiasis
Splenomegaly, Lymphadenopathy ORPHA:3386
Medullary Thyroid Carcinoma
Lymphadenopathy ORPHA:1332
Anaplastic Thyroid Carcinoma
Lymphadenopathy ORPHA:142
Klatskin Tumor
Lymphadenopathy ORPHA:99978
Legionnaires Disease
Renal insufficiency, Proteinuria, Splenomegaly, Lymphadenopathy, Hematuria, Bone marrow hypocellu... ORPHA:549
Immunodeficiency 97 With Autoinflammation
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Hepatosplenomegaly 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
Lymphatic Filariasis
Proteinuria, Glomerulonephritis, Lymphadenitis, Abnormality of the lymphatic system, Lymphadenopa... ORPHA:2035
Diffuse Cutaneous Mastocytosis
Abnormality of the spleen, Lymphadenopathy ORPHA:79456
Aggressive Systemic Mastocytosis
Hypersplenism, Lymphadenopathy, Hepatosplenomegaly ORPHA:98850
Lymphoproliferative Syndrome 1
Splenomegaly, Lymphadenopathy OMIM:613011
Immunodeficiency 98 With Autoinflammation, X-Linked
Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy OMIM:301078
Hemophagocytic Lymphohistiocytosis, Familial, 1
Splenomegaly, Irritability, Lymphadenopathy OMIM:267700
Omenn Syndrome
Splenomegaly, Hypoplasia of the thymus, Lymphadenopathy OMIM:603554
Cinca Syndrome
Splenomegaly, Lymphadenopathy ORPHA:1451
Gamma-Heavy Chain Disease
Splenomegaly, Lymphadenopathy ORPHA:100026
Felty Syndrome
Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy ORPHA:47612
Lig4 Syndrome
Hypoplasia of penis, Lymphadenopathy ORPHA:99812
Combined Immunodeficiency Due To Crac Channel Dysfunction
Splenomegaly, Lymphadenopathy ORPHA:169090
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Glomerulonephritis, Lymphadenopathy OMIM:304790
Hemophagocytic Lymphohistiocytosis, Familial, 2
Splenomegaly, Irritability, Lymphadenopathy, Hepatosplenomegaly OMIM:603553
Pancreatoblastoma
Abnormal lymph node morphology ORPHA:677
Mixed Connective Tissue Disease
Splenomegaly, Mediastinal lymphadenopathy, Nephropathy, Lymphadenopathy ORPHA:809
Hyper-Igd Syndrome
Splenomegaly, Lymphadenitis, Lymphadenopathy, Hepatosplenomegaly, Renal angiomyolipoma, Elevated ... OMIM:260920
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphadenopathy, Hepatosplenomegaly ORPHA:169154
Lymphangioleiomyomatosis
Abnormal urinary color, Abnormality of the lymphatic system, Lymphadenopathy, Hematuria, Multiple... ORPHA:538
Drug Reaction With Eosinophilia And Systemic Symptoms
Tubulointerstitial nephritis, Renal insufficiency, Nephrotic syndrome, Lymphadenopathy ORPHA:139402
Waldenström Macroglobulinemia
Memory impairment, Splenomegaly, Renal insufficiency, Lymphadenopathy ORPHA:33226
Familial Hemophagocytic Lymphohistiocytosis
Splenomegaly, Abnormal renal physiology, Lymphadenopathy ORPHA:540
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Splenomegaly, Lymphadenitis, Vesicoureteral reflux, Lymphadenopathy OMIM:615895
Graft Versus Host Disease
Irritability, Lymphadenopathy, Hepatosplenomegaly ORPHA:39812
Acute Monoblastic/Monocytic Leukemia
Cervical lymphadenopathy, Oliguria ORPHA:514
Macrophage Activation Syndrome
Splenomegaly, Lymphadenopathy ORPHA:158061
Hyperimmunoglobulinemia D With Periodic Fever
Lymphadenopathy ORPHA:343
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Enlarged tonsils, Lymphadenopathy, Hepatosplenomegaly OMIM:606367
Mevalonic Aciduria
Fluctuating splenomegaly, Lymphadenopathy, Elevated urine mevalonic acid level, Hepatosplenomegaly OMIM:610377
Immunodeficiency With Hyper-Igm, Type 1
Splenomegaly, Enlarged tonsils, Absence of lymph node germinal center OMIM:308230
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Splenomegaly, Lymphadenopathy ORPHA:436159
Joint Contractures, Osteochondromas, And B-Cell Lymphoma
Generalized lymphadenopathy OMIM:620232
Immunodeficiency, Common Variable, 8, With Autoimmunity
Splenomegaly, Generalized lymphadenopathy, Lymphadenopathy OMIM:614700
Cutaneous Neuroendocrine Carcinoma
Chronic noninfectious lymphadenopathy ORPHA:79140
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Lymphadenitis, Generalized lymphadenopathy, Hepatosplenomegaly OMIM:618986
Acute Interstitial Pneumonia
Lymphadenopathy ORPHA:79126
Acute Promyelocytic Leukemia
Hematuria, Lymphadenopathy ORPHA:520
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Splenomegaly, Lymphadenitis, Lymphadenopathy OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Splenomegaly, Lymphadenitis, Lymphadenopathy OMIM:233710
Malt Lymphoma
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:52417
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Absence of lymph node germinal center, Urinary retention, Hepatosplenomegaly ORPHA:79124
Acute Generalized Exanthematous Pustulosis
Renal insufficiency, Lymphadenopathy ORPHA:293173
Multiple Myeloma
Splenomegaly, Lymphadenopathy, Nephrotic syndrome, Nephropathy, Acute kidney injury ORPHA:29073
Pulmonary Capillary Hemangiomatosis
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:199241
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Splenomegaly, Lymphadenitis, Lymphadenopathy OMIM:233690
Proteasome-Associated Autoinflammatory Syndrome 3
Splenomegaly, Lymphadenopathy OMIM:617591
H Syndrome
Micropenis, Lymphadenopathy, Enlarged kidney, Hepatosplenomegaly ORPHA:168569
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Lymphadenopathy OMIM:617099
Agammaglobulinemia, X-Linked
Lymph node hypoplasia OMIM:300755
Malakoplakia
Proteinuria, Dysuria, Follicular hyperplasia, Urinary bladder inflammation, Urinary urgency, Hema... ORPHA:556
Histiocytosis-Lymphadenopathy Plus Syndrome
Splenomegaly, Cervical lymphadenopathy, Lymphadenopathy, Hepatosplenomegaly, Micropenis OMIM:602782
Carney Triad
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:139411
Hennekam Syndrome
Ectopic kidney, Splenomegaly, Pulmonary lymphangiectasia, Horseshoe kidney, Lymphadenopathy, Lymp... ORPHA:2136
Farber Disease
Lymphadenopathy, Hepatosplenomegaly ORPHA:333
Systemic Lupus Erythematosus
Proteinuria, Lupus nephritis, Pyuria, Lymphadenopathy, Hematuria, Depression ORPHA:536
Kikuchi-Fujimoto Disease
Generalized lymphadenopathy, Splenomegaly, Cervical lymphadenopathy, Abnormal lymph node morpholo... ORPHA:50918
Igg4-Related Kidney Disease
Renal insufficiency, Proteinuria, Lymphadenitis, Urinary bladder inflammation, Chronic kidney dis... ORPHA:449395
Familial Mediterranean Fever
Proteinuria, Splenomegaly, Lymphadenopathy, Nephrocalcinosis, Nephrotic syndrome, Nephropathy ORPHA:342
Chédiak-Higashi Syndrome
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Dementia, Cognitive impairment ORPHA:167
Q Fever
Hematuria, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly ORPHA:781
Chediak-Higashi Syndrome
Splenomegaly, Lymphadenopathy OMIM:214500
Spondyloenchondrodysplasia With Immune Dysregulation
Tubulointerstitial fibrosis, Lymphadenopathy OMIM:607944
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Splenomegaly, Lymphadenopathy, Tubulointerstitial nephritis, Nephrotic syndrome, Membranous nephr... ORPHA:37042
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Cervical lymphadenopathy, Lymphadenopathy OMIM:617718
Systemic Mastocytosis With Associated Hematologic Neoplasm
Splenomegaly, Lymphadenopathy ORPHA:98849
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Splenomegaly, Polysplenia, Lymphadenopathy OMIM:619418
Immunodeficiency 55
Lymphadenopathy OMIM:617827
Familial Pancreatic Carcinoma
Lymphadenopathy, Hepatosplenomegaly ORPHA:1333
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Lymphadenopathy ORPHA:83471
Poems Syndrome
Lymphadenopathy ORPHA:2905
Behçet Disease
Renal insufficiency, Confusion, Splenomegaly, Lymphadenopathy, Irritability, Memory impairment ORPHA:117
Coccidioidomycosis
Renal insufficiency, Abnormality of the spleen, Mediastinal lymphadenopathy, Lymphadenopathy, Cog... ORPHA:228123
Autoimmune Lymphoproliferative Syndrome
Renal insufficiency, Chronic noninfectious lymphadenopathy, Glomerulonephritis, Hypersplenism, Sp... ORPHA:3261
Granulomatous Disease, Chronic, X-Linked
Splenomegaly, Lymphadenitis, Lymphadenopathy OMIM:306400
Common Variable Immunodeficiency
Splenomegaly, Lymphadenopathy ORPHA:1572
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
Tangier Disease
Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Hepatosplenomegaly ORPHA:31150
Selective Igm Deficiency
Lymphadenitis, Lymphadenopathy ORPHA:331235
Ileal Neuroendocrine Tumor
Hydronephrosis, Lymphadenopathy ORPHA:100078
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly OMIM:615688
Chikungunya
Depression, Cervical lymphadenopathy, Lymphadenopathy ORPHA:324625
Adenocarcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424016
Primary Sjögren Syndrome
Renal insufficiency, Glomerulonephritis, Depression, Lymphadenopathy, Tubulointerstitial nephriti... ORPHA:289390
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Lymphadenopathy, Hepatosplenomegaly ORPHA:85408
Immunodeficiency 31C
Splenomegaly, Lymphadenopathy OMIM:614162
Brucellosis
Glomerulonephritis, Hypersplenism, Splenomegaly, Depression, Lymphadenopathy ORPHA:1304
Kawasaki Disease
Irritability, Cervical lymphadenopathy, Proteinuria, Sterile pyuria ORPHA:2331
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Splenomegaly, Lymphadenopathy ORPHA:32960
Cushing Syndrome Due To Ectopic Acth Secretion
Increased urinary cortisol level, Neoplasm of the thymus, Depression, Abnormal lymph node morphol... ORPHA:99889
Igg4-Related Submandibular Gland Disease
Renal insufficiency, Lymphadenopathy ORPHA:449432
Sarcoidosis
Renal insufficiency, Nephrolithiasis, Hypercalciuria, Abnormal lymph node morphology, Nephrocalci... ORPHA:797
Crimean-Congo Hemorrhagic Fever
Proteinuria, Confusion, Splenomegaly, Lymphadenopathy, Hematuria, Emotional lability ORPHA:99827
Autosomal Recessive Malignant Osteopetrosis
Splenomegaly, Lymphadenopathy ORPHA:667
African Trypanosomiasis
Renal insufficiency, Urinary incontinence, Splenomegaly, Hepatosplenomegaly, Lymphadenopathy, Irr... ORPHA:3385
Marburg Hemorrhagic Fever
Renal insufficiency, Confusion, Lymphadenopathy ORPHA:99826
Blau Syndrome
Splenomegaly, Nephropathy, Stage 5 chronic kidney disease, Lymphadenopathy ORPHA:90340
Igg4-Related Dacryoadenitis And Sialadenitis
Tubulointerstitial nephritis, Lymphadenopathy ORPHA:79078
Immunodeficiency 82 With Systemic Inflammation
Splenomegaly, Follicular hyperplasia, Lymphadenopathy OMIM:619381
Proteasome-Associated Autoinflammatory Syndrome 1
Splenomegaly, Lymphadenopathy OMIM:256040
Igg4-Related Ophthalmic Disease
Lymphadenopathy ORPHA:449563
Leptospirosis
Cellular urinary casts, Acute kidney injury, 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 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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