Gene Summary

Name:
melanoregulin
Synonyms:
Wdt2,  LOC381269,  dsu

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 Mregtm1b(EUCOMM)Hmgu HOM Late adult 0.00
abnormal auditory brainstem response Mregtm1b(EUCOMM)Hmgu HOM   Early adult 1.57×10-06
decreased body length Mregtm1b(EUCOMM)Hmgu HOM Early adult 9.06×10-05
decreased prepulse inhibition Mregtm1b(EUCOMM)Hmgu HOM Late adult 5.59×10-05

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 Hind Leg and Hip

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Human diseases caused by Mreg 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 Mreg by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
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
Deafness, Autosomal Recessive 104
Prelingual sensorineural hearing impairment, Absent brainstem auditory responses OMIM:616515
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy, Axillary lymphadenopathy, Inguinal 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
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Follicular hyperplasia ORPHA:60026
Charcot-Marie-Tooth Disease, Type 4B1
Facial palsy, Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials OMIM:601382
Optic Atrophy 8
Optic atrophy, Abnormality of pattern visual evoked potentials, Sensorineural hearing impairment,... OMIM:616648
Immunodeficiency 75 With Lymphoproliferation
Follicular hyperplasia, Hepatosplenomegaly, Lymphadenopathy OMIM:619126
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Abnormality of visual evok... ORPHA:320401
Kerion Celsi
Lymphadenopathy ORPHA:499
Kimura Disease
Follicular hyperplasia, Lymphadenopathy ORPHA:482
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... OMIM:125250
Immunodeficiency 32A
Lymphadenitis, Lymphadenopathy OMIM:614893
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Mast Cell Sarcoma
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:66661
Immunodeficiency 104
Splenomegaly, Lymphadenopathy OMIM:608971
Autoinflammation With Episodic Fever And Lymphadenopathy
Splenomegaly, Lymphadenopathy, Recurrent tonsillitis OMIM:618852
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, EEG abnormality, Facial palsy, Absent brainstem auditory responses OMIM:617519
Abcd Syndrome
Total intestinal aganglionosis, Hearing impairment, Aganglionic megacolon, Abnormal auditory evok... OMIM:600501
Follicular Lymphoma
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:545
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... OMIM:601455
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Splenomegaly, Lymphadenopathy ORPHA:444463
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Lymphadenopathy OMIM:618261
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Temporal optic disc pallor, Sensorineural hearing impairment, Absent brainstem aud... ORPHA:1215
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:86893
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Abnormal cranial nerve morphology, Fa... OMIM:601596
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy ORPHA:97290
Familial Papillary Or Follicular Thyroid Carcinoma
Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy ORPHA:319487
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy OMIM:608106
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormality of visual evoked potentials, Abnormal auditory evoked potentials, Optic disc pallor OMIM:617523
Granulomatous Slack Skin
Abnormal lymph node morphology ORPHA:33111
Mohr-Tranebjaerg Syndrome
Optic atrophy, Postlingual sensorineural hearing impairment, Prelingual sensorineural hearing imp... ORPHA:52368
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Lymphadenopathy OMIM:615513
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Lymphadenopathy OMIM:619220
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Hepatosplenomegaly, Lymphadenopathy OMIM:618982
Immunodeficiency 76
Splenomegaly, Lymphadenopathy OMIM:619164
Leukodystrophy, Hypomyelinating, 5
Decreased motor nerve conduction velocity, Delayed brainstem auditory evoked response conduction ... OMIM:610532
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Follicular hyperplasia, Lymphadenopathy OMIM:619846
Mu-Heavy Chain Disease
Splenomegaly, Lymphadenopathy ORPHA:100024
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center OMIM:606843
Alpha-Heavy Chain Disease
Splenomegaly, Lymphadenopathy ORPHA:100025
Rosaï-Dorfman Disease
Lymphadenopathy ORPHA:158014
Burkitt Lymphoma
Abnormal lymph node morphology, Abnormality of the spleen ORPHA:543
Immunodeficiency 64 With Lymphoproliferation
Mediastinal lymphadenopathy, Lymphadenopathy, Hepatosplenomegaly, Splenomegaly, Cervical lymphade... OMIM:618534
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly OMIM:300853
Autoimmune Lymphoproliferative Syndrome, Type Iii
Mediastinal lymphadenopathy, Lymphadenopathy, Hepatosplenomegaly, Splenomegaly, Generalized lymph... OMIM:615559
Fish-Eye Disease
Splenomegaly, Lymphadenopathy ORPHA:79292
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy OMIM:618987
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Hepatosplenomegaly, Lymphadenopathy OMIM:613101
Immunodeficiency, Common Variable, 2
Follicular hyperplasia, Lymphadenopathy, Splenomegaly OMIM:240500
Pfapa Syndrome
Splenomegaly, Lymphadenopathy ORPHA:42642
Hemophagocytic Lymphohistiocytosis, Familial, 4
Lymphadenopathy, Splenomegaly OMIM:603552
Immunodeficiency 27A
Lymphadenopathy, Enlarged mesenteric lymph node, Hepatosplenomegaly, Splenomegaly OMIM:209950
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Immunodeficiency With Hyper-Igm, Type 4
Absence of lymph node germinal center OMIM:608184
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Optic disc pallor OMIM:619260
Late-Infantile/Juvenile Krabbe Disease
Abnormality of visual evoked potentials, EEG with persistent abnormal rhythmic activity, Delayed ... ORPHA:206443
Caspase 8 Deficiency
Splenomegaly, Lymphadenopathy OMIM:607271
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Leukocyte Adhesion Deficiency, Type Iii
Abnormal lymph node morphology, Splenomegaly, Hepatosplenomegaly OMIM:612840
Immune Dysregulation, Autoimmunity, And Autoinflammation
Cervical lymphadenopathy, Inguinal lymphadenopathy OMIM:620514
Immunodeficiency 103, Susceptibility To Fungal Infections
Lymphadenopathy OMIM:212050
Immunodeficiency 109 With Lymphoproliferation
Generalized lymphadenopathy, Splenomegaly OMIM:620282
Immunodeficiency 52
Lymphadenopathy, Splenomegaly OMIM:617514
Classic Mycosis Fungoides
Lymphadenopathy, Splenomegaly ORPHA:2584
Tularemia
Abnormal nasopharyngeal adenoid morphology, Cervical lymphadenopathy, Mediastinal lymphadenopathy... ORPHA:3392
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, Absence of lymph node germinal center ORPHA:277
Pleural Mesothelioma
Lymphadenopathy ORPHA:50251
Activated Pi3K-Delta Syndrome
Lymphadenopathy, Splenomegaly, Recurrent tonsillitis ORPHA:397596
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Splenomegaly OMIM:611762
Classic Hodgkin Lymphoma
Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy ORPHA:391
Schnitzler Syndrome
Lymphadenopathy, Splenomegaly ORPHA:37748
Pseudomyxoma Peritonei
Lymphadenopathy ORPHA:26790
Immunodeficiency 105
Absence of lymph node germinal center, Hepatosplenomegaly OMIM:619924
Congenital Toxoplasmosis
Lymphadenopathy ORPHA:858
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Splenomegaly, Lymphadenopathy OMIM:618495
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Splenomegaly, Lymphadenopathy OMIM:150550
Cold Agglutinin Disease
Splenomegaly, Lymphadenopathy ORPHA:56425
Leukodystrophy, Hypomyelinating, 13
Optic atrophy, Delayed brainstem auditory evoked response conduction time OMIM:616881
Indolent Systemic Mastocytosis
Splenomegaly, Lymphadenopathy ORPHA:98848
Immunodeficiency 54
Lymphadenopathy, Splenomegaly OMIM:609981
Immunodeficiency, Common Variable, 1
Lymphadenopathy, Splenomegaly OMIM:607594
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Vestibular areflexia, Absent brainstem auditory responses ORPHA:3240
Arthrogryposis, Distal, Type 2A
Hearing impairment, Abnormal auditory evoked potentials OMIM:193700
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529808
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529799
Infantile Krabbe Disease
Optic atrophy, Delayed brainstem auditory evoked response conduction time, Decreased nerve conduc... ORPHA:206436
Heme Oxygenase 1 Deficiency
Cervical lymphadenopathy, Lymphadenopathy, Asplenia OMIM:614034
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Lymphadenopathy, Splenomegaly OMIM:619375
Middle Ear Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100084
Ras-Associated Autoimmune Leukoproliferative Disorder
Follicular hyperplasia, Splenomegaly OMIM:614470
Adult Krabbe Disease
Delayed brainstem auditory evoked response conduction time, EEG abnormality ORPHA:206448
Lymphoproliferative Syndrome 2
Lymphadenopathy, Hepatosplenomegaly, Splenomegaly OMIM:615122
Immunodeficiency 7
Splenomegaly, Lymphadenopathy OMIM:615387
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormality of the lymphatic system, Abnormal lymph node morphology ORPHA:54251
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphadenitis, Abnormal lymph node morphology, Hepatosplenomegaly, Lymphadenopathy ORPHA:911
Griscelli Syndrome Type 2
Splenomegaly, Lymphadenopathy ORPHA:79477
Roifman Syndrome
Lymphadenopathy, Splenomegaly OMIM:616651
Cinca Syndrome
Hepatosplenomegaly, Lymphadenopathy OMIM:607115
Autoimmune Lymphoproliferative Syndrome, Type Iia
Chronic noninfectious lymphadenopathy, Lymphadenopathy, Splenomegaly, Follicular hyperplasia OMIM:603909
Adult-Onset Autosomal Dominant Leukodystrophy
Orthostatic hypotension, Sensorineural hearing impairment, Abnormal auditory evoked potentials, A... ORPHA:99027
Roifman Syndrome
Hepatosplenomegaly, Lymphadenopathy ORPHA:353298
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphadenopathy, Recurrent tonsillitis, Lymphadenitis, Hepatosplenomegaly, Splenomegaly OMIM:618935
Charcot-Marie-Tooth Disease Type 1F
Sensorineural hearing impairment, Optic nerve hypoplasia, Decreased nerve conduction velocity, Ab... ORPHA:101085
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy ORPHA:3226
Boutonneuse Fever
Cervical lymphadenopathy, Lymphadenopathy ORPHA:83313
Desmoplastic Small Round Cell Tumor
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:83469
Systemic-Onset Juvenile Idiopathic Arthritis
Splenomegaly, Lymphadenopathy ORPHA:85414
Rhabdoid Tumor
Lymphadenopathy ORPHA:69077
Acquired Hypertrichosis Lanuginosa
Lymphadenopathy ORPHA:2221
Leishmaniasis
Lymphadenopathy, Splenomegaly ORPHA:507
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Hepatosplenomegaly, Lymphadenopathy OMIM:619750
Nephroblastoma
Lymphadenopathy ORPHA:654
Thyroid Lymphoma
Lymphadenopathy ORPHA:97285
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Aganglionic megacolon, Decreased nerve conduction velocity, Short-segment aganglionic megacolon, ... OMIM:609136
Papa Syndrome
Lymphadenopathy ORPHA:69126
Squamous Cell Carcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424019
Cockayne Syndrome Type 1
Optic atrophy, Absent brainstem auditory responses, Hearing impairment, Macrotia, Abnormality of ... ORPHA:90321
Mogs-Cdg
Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Abnormality... ORPHA:79330
Griscelli Syndrome
Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy ORPHA:381
Sézary Syndrome
Lymphadenopathy, Splenomegaly ORPHA:3162
Proteasome-Associated Autoinflammatory Syndrome 4
Splenomegaly, Lymphadenopathy OMIM:619183
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Lymph node hypoplasia, Splenomegaly, Aplasia of the thymus, Absent tonsils, Generalized lymphaden... OMIM:602450
Pulmonary Non-Tuberculous Mycobacterial Infection
Lymphadenopathy ORPHA:411703
Niemann-Pick Disease, Type A
Lymphadenopathy, Splenomegaly OMIM:257200
Cerebrotendinous Xanthomatosis
Optic atrophy, Decreased nerve conduction velocity, Abnormal auditory evoked potentials, Optic ne... ORPHA:909
Primary Myelofibrosis
Lymphadenopathy, Hepatosplenomegaly, Splenomegaly ORPHA:824
Lymphoproliferative Syndrome, X-Linked, 1
Lymphadenopathy, Splenomegaly OMIM:308240
Immunodeficiency 91 And Hyperinflammation
Hepatosplenomegaly, Lymphadenopathy OMIM:619644
Aregenerative Anemia
Fatigable weakness of skeletal muscles, Bone marrow hypocellularity, Lymphadenopathy ORPHA:101096
Cyclic Neutropenia
Cervical lymphadenopathy, Lymphadenopathy, Recurrent tonsillitis ORPHA:2686
Trisomy 10P
Low voltage EEG, EEG with focal spikes, Abnormal auditory evoked potentials, Low-set ears, Macrot... ORPHA:171929
Scrub Typhus
Lymphadenopathy, Splenomegaly ORPHA:83317
Proteasome-Associated Autoinflammatory Syndrome 2
Lymphadenopathy OMIM:618048
American Trypanosomiasis
Lymphadenopathy, Splenomegaly ORPHA:3386
Immunodeficiency 97 With Autoinflammation
Lymphadenopathy, Mediastinal lymphadenopathy, Hepatosplenomegaly, Splenomegaly OMIM:619802
Castleman Disease
Lymphadenopathy, Generalized lymphadenopathy, Mediastinal lymphadenopathy, Follicular hyperplasia ORPHA:160
Anaplastic Thyroid Carcinoma
Lymphadenopathy ORPHA:142
Pancreatoblastoma
Abnormal lymph node morphology ORPHA:677
Thymic Neuroendocrine Tumor
Neoplasm of the thymus, Mediastinal lymphadenopathy, Chronic noninfectious lymphadenopathy ORPHA:97289
Aggressive Systemic Mastocytosis
Hypersplenism, Hepatosplenomegaly, Lymphadenopathy ORPHA:98850
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Absent peripheral lymph nodes in presence of infection ORPHA:98813
Klatskin Tumor
Lymphadenopathy ORPHA:99978
Diffuse Cutaneous Mastocytosis
Lymphadenopathy, Abnormality of the spleen ORPHA:79456
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphadenopathy, Splenomegaly OMIM:616100
Medullary Thyroid Carcinoma
Lymphadenopathy ORPHA:1332
Hereditary Amyloidosis With Primary Renal Involvement
Abnormal lymph node morphology, Hepatosplenomegaly, Lymphadenopathy ORPHA:85450
Omenn Syndrome
Lymphadenopathy, Splenomegaly ORPHA:39041
Cockayne Syndrome B
Optic atrophy, Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal pi... OMIM:133540
Cinca Syndrome
Lymphadenopathy, Splenomegaly ORPHA:1451
Cockayne Syndrome A
Optic atrophy, Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal pi... OMIM:216400
Melkersson-Rosenthal Syndrome
Lymphadenopathy ORPHA:2483
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy OMIM:301078
Immunodeficiency 10
Lymphadenopathy, Splenomegaly OMIM:612783
Felty Syndrome
Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy ORPHA:47612
Omenn Syndrome
Splenomegaly, Hypoplasia of the thymus, Lymphadenopathy OMIM:603554
Hypocomplementemic Urticarial Vasculitis
Lymphadenopathy, Splenomegaly ORPHA:36412
Lymphoproliferative Syndrome 1
Lymphadenopathy, Splenomegaly OMIM:613011
Gamma-Heavy Chain Disease
Splenomegaly, Lymphadenopathy ORPHA:100026
Adult-Onset Still Disease
Bone marrow hypocellularity, Generalized lymphadenopathy, Splenomegaly, Lymphadenopathy ORPHA:829
Combined Immunodeficiency Due To Crac Channel Dysfunction
Lymphadenopathy, Splenomegaly ORPHA:169090
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Hepatosplenomegaly, Lymphadenopathy ORPHA:169154
Meige Disease
Absence of lymph node germinal center, Lymph node hypoplasia ORPHA:90186
Tafro Syndrome
Splenomegaly, Hepatosplenomegaly, Lymphadenopathy ORPHA:457077
Legionnaires Disease
Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy ORPHA:549
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Enlarged tonsils, Hepatosplenomegaly, Lymphadenopathy OMIM:606367
Immunodeficiency, Common Variable, 8, With Autoimmunity
Lymphadenopathy, Generalized lymphadenopathy, Splenomegaly OMIM:614700
Mixed Connective Tissue Disease
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly ORPHA:809
Immunodeficiency With Hyper-Igm, Type 1
Absence of lymph node germinal center, Enlarged tonsils, Splenomegaly OMIM:308230
Macrophage Activation Syndrome
Lymphadenopathy, Splenomegaly ORPHA:158061
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Lymphadenopathy, Splenomegaly ORPHA:436159
Hyperimmunoglobulinemia D With Periodic Fever
Lymphadenopathy ORPHA:343
Mevalonic Aciduria
Fluctuating splenomegaly, Hepatosplenomegaly, Lymphadenopathy OMIM:610377
Familial Hemophagocytic Lymphohistiocytosis
Lymphadenopathy, Splenomegaly ORPHA:540
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Lymphadenopathy OMIM:304790
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Lymphadenitis, Lymphadenopathy, Splenomegaly OMIM:615895
Lig4 Syndrome
Lymphadenopathy ORPHA:99812
Acute Interstitial Pneumonia
Lymphadenopathy ORPHA:79126
Hemophagocytic Lymphohistiocytosis, Familial, 2
Lymphadenopathy, Hepatosplenomegaly, Splenomegaly OMIM:603553
Pulmonary Capillary Hemangiomatosis
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:199241
Hyper-Igd Syndrome
Lymphadenitis, Lymphadenopathy, Hepatosplenomegaly, Splenomegaly OMIM:260920
Joint Contractures, Osteochondromas, And B-Cell Lymphoma
Generalized lymphadenopathy OMIM:620232
Mend Syndrome
Low-set ears, Abnormal auditory evoked potentials ORPHA:401973
Hemophagocytic Lymphohistiocytosis, Familial, 1
Lymphadenopathy, Splenomegaly OMIM:267700
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Lymphadenitis, Lymphadenopathy, Splenomegaly OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Lymphadenitis, Lymphadenopathy, Splenomegaly OMIM:233710
Lymphatic Filariasis
Lymphadenitis, Abnormality of the lymphatic system, Lymphangiectasis, Lymphadenopathy ORPHA:2035
Malt Lymphoma
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:52417
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Lymphadenitis, Lymphadenopathy, Splenomegaly OMIM:233690
Pediatric Systemic Lupus Erythematosus
Lymphadenopathy ORPHA:93552
Proteasome-Associated Autoinflammatory Syndrome 3
Lymphadenopathy, Splenomegaly OMIM:617591
Acute Promyelocytic Leukemia
Lymphadenopathy ORPHA:520
Drug Reaction With Eosinophilia And Systemic Symptoms
Lymphadenopathy ORPHA:139402
Graft Versus Host Disease
Hepatosplenomegaly, Lymphadenopathy ORPHA:39812
Farber Disease
Hepatosplenomegaly, Lymphadenopathy ORPHA:333
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Lymphadenopathy OMIM:617099
Kikuchi-Fujimoto Disease
Abnormal lymph node morphology, Lymphadenopathy, Splenomegaly, Generalized lymphadenopathy, Cervi... ORPHA:50918
Carney Triad
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:139411
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Absence of lymph node germinal center, Hepatosplenomegaly ORPHA:79124
Waldenström Macroglobulinemia
Lymphadenopathy, Splenomegaly ORPHA:33226
Poems Syndrome
Lymphadenopathy, Splenomegaly ORPHA:2905
Histiocytosis-Lymphadenopathy Plus Syndrome
Lymphadenopathy, Cervical lymphadenopathy, Hepatosplenomegaly, Splenomegaly OMIM:602782
Chediak-Higashi Syndrome
Lymphadenopathy, Splenomegaly OMIM:214500
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Lymphadenopathy, Splenomegaly, Polysplenia, Accessory spleen OMIM:619418
Systemic Mastocytosis With Associated Hematologic Neoplasm
Lymphadenopathy, Splenomegaly ORPHA:98849
Acute Generalized Exanthematous Pustulosis
Lymphadenopathy ORPHA:293173
H Syndrome
Hepatosplenomegaly, Lymphadenopathy ORPHA:168569
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Cervical lymphadenopathy, Lymphadenopathy OMIM:617718
Neuroblastoma
Lymphadenopathy ORPHA:635
Q Fever
Lymphadenopathy, Hepatosplenomegaly, Splenomegaly ORPHA:781
T-Cell Immunodeficiency With Thymic Aplasia
Lymphadenopathy, Aplasia of the thymus ORPHA:83471
Granulomatous Disease, Chronic, X-Linked
Lymphadenitis, Lymphadenopathy, Splenomegaly OMIM:306400
Congenital Syphilis
Hepatosplenomegaly, Lymphadenopathy ORPHA:499009
Familial Pancreatic Carcinoma
Hepatosplenomegaly, Lymphadenopathy ORPHA:1333
Selective Igm Deficiency
Lymphadenitis, Lymphadenopathy ORPHA:331235
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Lymphadenopathy, Splenomegaly ORPHA:37042
Hennekam Syndrome
Lymphadenopathy, Lymphangioma, Splenomegaly, Pulmonary lymphangiectasia ORPHA:2136
Common Variable Immunodeficiency
Lymphadenopathy, Splenomegaly ORPHA:1572
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Bone marrow hypocellularity, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy OMIM:615688
Immunodeficiency 55
Lymphadenopathy OMIM:617827
Autoimmune Lymphoproliferative Syndrome
Lymphadenopathy, Chronic noninfectious lymphadenopathy, Bone marrow hypocellularity, Splenomegaly... ORPHA:3261
Spondyloenchondrodysplasia With Immune Dysregulation
Lymphadenopathy OMIM:607944
Lymphangioleiomyomatosis
Abnormality of the lymphatic system, Pulmonary lymphangiomyomatosis, Lymphadenopathy ORPHA:538
Multiple Myeloma
Lymphadenopathy, Splenomegaly ORPHA:29073
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Absent peripheral lymph nodes in presence of infection OMIM:600802
Chédiak-Higashi Syndrome
Lymphadenopathy, Hepatosplenomegaly, Splenomegaly ORPHA:167
Tangier Disease
Orange discolored tonsils, Hepatosplenomegaly, Chronic noninfectious lymphadenopathy ORPHA:31150
Immunodeficiency 31C
Lymphadenopathy, Splenomegaly OMIM:614162
Coccidioidomycosis
Lymphadenopathy, Mediastinal lymphadenopathy, Abnormality of the spleen ORPHA:228123
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Hepatosplenomegaly, Lymphadenopathy ORPHA:85408
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Lymphadenopathy, Splenomegaly ORPHA:32960
Adenocarcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424016
Familial Mediterranean Fever
Lymphadenopathy, Splenomegaly ORPHA:342
Ileal Neuroendocrine Tumor
Lymphadenopathy ORPHA:100078
Chikungunya
Cervical lymphadenopathy, Lymphadenopathy ORPHA:324625
Autosomal Recessive Malignant Osteopetrosis
Lymphadenopathy, Splenomegaly ORPHA:667
Brucellosis
Lymphadenopathy, Splenomegaly, Hypersplenism ORPHA:1304
Igg4-Related Kidney Disease
Lymphadenitis, Lymphadenopathy ORPHA:449395
Immunodeficiency 82 With Systemic Inflammation
Follicular hyperplasia, Lymphadenopathy, Splenomegaly OMIM:619381
Behçet Disease
Lymphadenopathy, Splenomegaly ORPHA:117
Igg4-Related Submandibular Gland Disease
Lymphadenopathy ORPHA:449432
Sarcoidosis
Abnormal lymph node morphology, Lymphadenopathy ORPHA:797
Cushing Syndrome Due To Ectopic Acth Secretion
Fatiguable weakness of proximal limb muscles, Abnormal lymph node morphology, Neoplasm of the thymus ORPHA:99889
Proteasome-Associated Autoinflammatory Syndrome 1
Lymphadenopathy, Splenomegaly OMIM:256040
Primary Sjögren Syndrome
Lymphadenopathy ORPHA:289390
Crimean-Congo Hemorrhagic Fever
Lymphadenopathy, Splenomegaly ORPHA:99827
Igg4-Related Dacryoadenitis And Sialadenitis
Lymphadenopathy ORPHA:79078
Marburg Hemorrhagic Fever
Lymphadenopathy ORPHA:99826
Igg4-Related Ophthalmic Disease
Lymphadenopathy ORPHA:449563
Blau Syndrome
Lymphadenopathy, Splenomegaly ORPHA:90340
Systemic Lupus Erythematosus
Lymphadenopathy ORPHA:536
African Trypanosomiasis
Lymphadenopathy, Hepatosplenomegaly, Splenomegaly ORPHA:3385
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 Mreg

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 Mreg.

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

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Mregtm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice
Mregtm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Mregtm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Mregtm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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