Gene Summary

endoplasmic reticulum lectin 1

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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 auditory brainstem response Erlec1em1(IMPC)Mbp HOM   Early adult 1.83×10-06
decreased total body fat amount Erlec1em1(IMPC)Mbp HOM Early adult 9.97×10-05
abnormal lymph node morphology Erlec1em1(IMPC)Mbp HOM Early adult 0.00
increased prepulse inhibition Erlec1em1(IMPC)Mbp HOM   Early adult 2.62×10-06
enlarged lymph nodes Erlec1em1(IMPC)Mbp HOM Early adult 0.00

Download data as:  TSV  XLS

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


XRay Images Whole Body Lateral Orientation

10 Images


XRay Images Whole Body Dorso Ventral

30 Images

Human diseases caused by Erlec1 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 Erlec1 by phenotypic similarity.

Disease Similarity of
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
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
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
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Follicular hyperplasia ORPHA:60026
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials OMIM:601382
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Lymphadenopathy, Follicular hyperplasia OMIM:619126
Kerion Celsi
Lymphadenopathy ORPHA:499
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... OMIM:616648
Kimura Disease
Lymphadenopathy, Follicular hyperplasia ORPHA:482
Mast Cell Sarcoma
Splenomegaly, Hypoplasia of the ear cartilage, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:66661
Immunodeficiency 104
Splenomegaly, Lymphadenopathy OMIM:608971
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... ORPHA:320401
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, Ankle flexion contracture, Sensorineural heari... OMIM:617519
Autoinflammation With Episodic Fever And Lymphadenopathy
Splenomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Cellulitis, Lymphadenopathy OMIM:615513
Immunodeficiency 32A
Lymphadenitis, Lymphadenopathy OMIM:614893
Middle Ear Neuroendocrine Tumor
Facial palsy, Chronic noninfectious lymphadenopathy, Sensorineural hearing impairment, Tinnitus, ... ORPHA:100084
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Splenomegaly, Lymphadenopathy ORPHA:444463
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials OMIM:125250
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
Granulomatous Slack Skin
Abnormal lymph node morphology ORPHA:33111
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Low-frequency sensorineural hearing impairment, Lymphadenopathy, Hepatosplenomegaly OMIM:613101
Familial Papillary Or Follicular Thyroid Carcinoma
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology ORPHA:319487
Proteasome-Associated Autoinflammatory Syndrome 4
Splenomegaly, Flexion contracture, Generalized lipodystrophy, Lymphadenopathy, Panniculitis OMIM:619183
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Lymphadenopathy, Fluctuating splenomegaly OMIM:619220
Charcot-Marie-Tooth Disease, Type 4D
Claw hand deformity, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Se... OMIM:601455
Pseudomyxoma Peritonei
Hernia, Lymphadenopathy ORPHA:26790
Immunodeficiency 76
Splenomegaly, Lymphadenopathy OMIM:619164
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Hepatosplenomegaly, Lymphadenopathy OMIM:618982
Familial Cold Autoinflammatory Syndrome 2
Splenomegaly, Sensorineural hearing impairment, Lymphadenopathy OMIM:611762
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... OMIM:601596
Mu-Heavy Chain Disease
Splenomegaly, Lymphadenopathy ORPHA:100024
Rosaï-Dorfman Disease
Lymphadenopathy ORPHA:158014
Alpha-Heavy Chain Disease
Splenomegaly, Lymphadenopathy ORPHA:100025
Generalized Eruptive Histiocytosis
Lymphadenopathy ORPHA:157991
Abcd Syndrome
Hearing impairment, Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal ... OMIM:600501
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
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
Activated Pi3K-Delta Syndrome
Splenomegaly, Recurrent tonsillitis, Hearing impairment, Lymphadenopathy ORPHA:397596
Pfapa Syndrome
Splenomegaly, Lymphadenopathy ORPHA:42642
Hemophagocytic Lymphohistiocytosis, Familial, 4
Splenomegaly, Lymphadenopathy OMIM:603552
Cinca Syndrome
Papilledema, Lymphadenopathy, Hepatosplenomegaly, Progressive sensorineural hearing impairment, H... OMIM:607115
Autoimmune Lymphoproliferative Syndrome, Type Iii
Generalized lymphadenopathy, Follicular hyperplasia, Mediastinal lymphadenopathy, Splenomegaly, L... OMIM:615559
Fish-Eye Disease
Splenomegaly, Lymphadenopathy ORPHA:79292
Immunodeficiency With Hyper-Igm, Type 4
Absence of lymph node germinal center OMIM:608184
Arthrogryposis, Distal, Type 2A
Hip contracture, Inguinal hernia, Flexion contracture of finger, Shoulder flexion contracture, Ab... OMIM:193700
Congenital Toxoplasmosis
Hearing impairment, Lymphadenopathy ORPHA:858
Meige Disease
Atypical scarring of skin, Lymph node hypoplasia, Cellulitis, Absence of lymph node germinal center ORPHA:90186
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
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment... ORPHA:1215
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Prelingual ... ORPHA:52368
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
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials OMIM:617523
Immunodeficiency 109 With Lymphoproliferation
Splenomegaly, Generalized lymphadenopathy OMIM:620282
Classic Mycosis Fungoides
Splenomegaly, Lymphadenopathy ORPHA:2584
Pleural Mesothelioma
Lymphadenopathy ORPHA:50251
Melkersson-Rosenthal Syndrome
Abnormal autonomic nervous system physiology, Facial palsy, Lymphadenopathy ORPHA:2483
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, Absence of lymph node germinal center ORPHA:277
Schnitzler Syndrome
Splenomegaly, Lymphadenopathy ORPHA:37748
Immunodeficiency 105
Hepatosplenomegaly, Absence of lymph node germinal center OMIM:619924
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Abnormal nasopharyngeal adenoid morphology, Cervical lymphadenopathy, Mediastinal lymphadenopathy... ORPHA:3392
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:619260
Classic Hodgkin Lymphoma
Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy ORPHA:391
Immunodeficiency 10
Amelogenesis imperfecta, Lymphadenopathy OMIM:612783
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Splenomegaly, Lymphadenopathy OMIM:618495
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Splenomegaly, Lymphadenopathy OMIM:150550
Immunodeficiency 54
Splenomegaly, Lymphadenopathy OMIM:609981
Cold Agglutinin Disease
Splenomegaly, Lymphadenopathy ORPHA:56425
Indolent Systemic Mastocytosis
Splenomegaly, Lymphadenopathy ORPHA:98848
Immunodeficiency, Common Variable, 1
Splenomegaly, Lymphadenopathy OMIM:607594
Deafness-Lymphedema-Leukemia Syndrome
Splenomegaly, Sensorineural hearing impairment, Bone marrow hypocellularity, Lymphadenopathy ORPHA:3226
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Joint contracture, Optic atrophy OMIM:616881
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Splenomegaly, Lymphadenopathy OMIM:619375
Proteasome-Associated Autoinflammatory Syndrome 2
Lipodystrophy, Lymphadenopathy OMIM:618048
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Posteriorly rotated ears, Lymphadenopathy, Low-set ears, Hepatosplenomegaly OMIM:619750
Cinca Syndrome
Splenomegaly, Sensorineural hearing impairment, Lymphadenopathy, EEG abnormality, Pseudopapillede... ORPHA:1451
Joint Contractures, Osteochondromas, And B-Cell Lymphoma
Hip contracture, Generalized lymphadenopathy, Ankle flexion contracture, Knee flexion contracture OMIM:620232
Late-Infantile/Juvenile Krabbe Disease
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per... ORPHA:206443
Roifman Syndrome
Hip contracture, Splenomegaly, Lymphadenopathy OMIM:616651
Ras-Associated Autoimmune Leukoproliferative Disorder
Splenomegaly, Follicular hyperplasia OMIM:614470
Heme Oxygenase 1 Deficiency
Asplenia, Cervical lymphadenopathy, Lymphadenopathy OMIM:614034
Roifman Syndrome
Hip contracture, Lymphadenopathy, Hepatosplenomegaly ORPHA:353298
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
Systemic-Onset Juvenile Idiopathic Arthritis
Splenomegaly, Lymphadenopathy ORPHA:85414
Cyclic Neutropenia
Cellulitis, Cervical lymphadenopathy, Recurrent tonsillitis, Lymphadenopathy ORPHA:2686
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... OMIM:609136
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphadenitis, Abnormal lymph node morphology, Lymphadenopathy, Hepatosplenomegaly ORPHA:911
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Panniculitis, Lipodystrophy, Lymphadenopathy OMIM:617099
Griscelli Syndrome Type 2
Splenomegaly, Lymphadenopathy ORPHA:79477
Rhabdoid Tumor
Lymphadenopathy ORPHA:69077
Acquired Hypertrichosis Lanuginosa
Lymphadenopathy ORPHA:2221
Proteasome-Associated Autoinflammatory Syndrome 3
Lipodystrophy, Splenomegaly, Flexion contracture, Lymphadenopathy, Panniculitis OMIM:617591
Lymphadenopathy ORPHA:654
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Splenomegaly, Lymphadenitis, Recurrent tonsillitis, Lymphadenopathy, Hepatosplenomegaly OMIM:618935
Squamous Cell Carcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424019
American Trypanosomiasis
Splenomegaly, Aganglionic megacolon, Lymphadenopathy ORPHA:3386
Papa Syndrome
Lymphadenopathy ORPHA:69126
Adult-Onset Autosomal Dominant Leukodystrophy
Orthostatic hypotension, EEG with generalized slow activity, Abnormal auditory evoked potentials,... ORPHA:99027
Splenomegaly, Lymphadenopathy ORPHA:507
Autoimmune Lymphoproliferative Syndrome
Splenomegaly, Chronic noninfectious lymphadenopathy, Follicular hyperplasia OMIM:601859
Cockayne Syndrome A
Reduced subcutaneous adipose tissue, Hip contracture, Abnormal pinna morphology, Abnormal auditor... OMIM:216400
Thyroid Lymphoma
Lymphadenopathy ORPHA:97285
Desmoplastic Small Round Cell Tumor
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:83469
Boutonneuse Fever
Cervical lymphadenopathy, Lymphadenopathy ORPHA:83313
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymph node hypoplasia, Absent tonsils ORPHA:276
Cutaneous Mastocytoma
Lymphadenopathy ORPHA:79455
Charcot-Marie-Tooth Disease Type 1F
Absent brainstem auditory responses, Optic nerve hypoplasia, Decreased nerve conduction velocity,... ORPHA:101085
Autoimmune Lymphoproliferative Syndrome, Type Iia
Splenomegaly, Follicular hyperplasia, Chronic noninfectious lymphadenopathy, Lymphadenopathy OMIM:603909
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Foot joint contracture, Scarring, Optic atrophy, Enamel hypo... ORPHA:90321
Sézary Syndrome
Splenomegaly, Lymphadenopathy ORPHA:3162
Combined Immunodeficiency Due To Crac Channel Dysfunction
Amelogenesis imperfecta, Splenomegaly, Hypocalcification of dental enamel, Lymphadenopathy ORPHA:169090
Lymphoproliferative Syndrome, X-Linked, 1
Splenomegaly, Lymphadenopathy OMIM:308240
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529808
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529799
Niemann-Pick Disease, Type A
Splenomegaly, Lymphadenopathy OMIM:257200
Griscelli Syndrome
Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy ORPHA:381
Felty Syndrome
Splenomegaly, Cellulitis, Bone marrow hypocellularity, Lymphadenopathy ORPHA:47612
Infantile Krabbe Disease
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Optic atroph... ORPHA:206436
Pulmonary Non-Tuberculous Mycobacterial Infection
Lymphadenopathy ORPHA:411703
Immunodeficiency 91 And Hyperinflammation
Lymphadenopathy, Hepatosplenomegaly OMIM:619644
Purine Nucleoside Phosphorylase Deficiency
Splenomegaly, Lymph node hypoplasia OMIM:613179
Cockayne Syndrome B
Reduced subcutaneous adipose tissue, Abnormal pinna morphology, Abnormal auditory evoked potentia... OMIM:133540
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Hepatosplen... ORPHA:79330
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Vestibular areflexia ORPHA:3240
Aregenerative Anemia
Fatigable weakness of skeletal muscles, Bone marrow hypocellularity, Lymphadenopathy ORPHA:101096
Primary Myelofibrosis
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly ORPHA:824
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG abnormality ORPHA:206448
Scrub Typhus
Splenomegaly, Lymphadenopathy ORPHA:83317
Medullary Thyroid Carcinoma
Lymphadenopathy ORPHA:1332
Anaplastic Thyroid Carcinoma
Lymphadenopathy ORPHA:142
Klatskin Tumor
Lymphadenopathy ORPHA:99978
Immunodeficiency 97 With Autoinflammation
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Hepatosplenomegaly OMIM:619802
Hypocomplementemic Urticarial Vasculitis
Splenomegaly, Sensorineural hearing impairment, Lymphadenopathy ORPHA:36412
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
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Cellulitis, Enlarged tonsils, Lymphadenopathy, Hepatosplenomegaly OMIM:606367
Legionnaires Disease
Splenomegaly, Cellulitis, Bone marrow hypocellularity, Lymphadenopathy ORPHA:549
Trisomy 10P
Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Low vo... ORPHA:171929
Diffuse Cutaneous Mastocytosis
Abnormality of the spleen, Lymphadenopathy ORPHA:79456
Graft Versus Host Disease
Fasciitis, Dupuytren contracture, Lipodystrophy, Lymphadenopathy, Hepatosplenomegaly ORPHA:39812
Aggressive Systemic Mastocytosis
Hypersplenism, Lymphadenopathy, Hepatosplenomegaly ORPHA:98850
Lymphoproliferative Syndrome 1
Splenomegaly, Lymphadenopathy OMIM:613011
Omenn Syndrome
Splenomegaly, Lymphadenopathy ORPHA:39041
Histiocytosis-Lymphadenopathy Plus Syndrome
Camptodactyly of finger, Splenomegaly, Cervical lymphadenopathy, Sensorineural hearing impairment... OMIM:602782
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Lymphadenitis, Cellulitis, Generalized lymphadenopathy, Hepatosplenomegaly OMIM:618986
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Splenomegaly, Lymphadenitis, Cellulitis, Lymphadenopathy OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Splenomegaly, Lymphadenitis, Cellulitis, Lymphadenopathy OMIM:233710
Thymic Neuroendocrine Tumor
Neoplasm of the thymus, Mediastinal lymphadenopathy, Chronic noninfectious lymphadenopathy ORPHA:97289
Immunodeficiency 98 With Autoinflammation, X-Linked
Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy OMIM:301078
Castleman Disease
Mediastinal lymphadenopathy, Follicular hyperplasia, Generalized lymphadenopathy, Lymphadenopathy ORPHA:160
Mevalonic Aciduria
Optic disc pallor, Posteriorly rotated ears, Fluctuating splenomegaly, Lymphadenopathy, Hepatospl... OMIM:610377
Omenn Syndrome
Splenomegaly, Hypoplasia of the thymus, Lymphadenopathy OMIM:603554
Acute Monoblastic/Monocytic Leukemia
Cervical lymphadenopathy, Progressive hearing impairment ORPHA:514
Hereditary Amyloidosis With Primary Renal Involvement
Abnormal lymph node morphology, Lymphadenopathy, Hepatosplenomegaly ORPHA:85450
Gamma-Heavy Chain Disease
Splenomegaly, Lymphadenopathy ORPHA:100026
H Syndrome
Lipodystrophy, Lymphadenopathy, Hepatosplenomegaly, Hernia, Camptodactyly, Hearing impairment ORPHA:168569
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Splenomegaly, Lymphadenitis, Cellulitis, Lymphadenopathy OMIM:233690
Optic neuropathy, Macular scar, Submandibular lymph node enlargement OMIM:118400
Abnormal lymph node morphology ORPHA:677
Familial Hemophagocytic Lymphohistiocytosis
Splenomegaly, Sensorineural hearing impairment, Lymphadenopathy ORPHA:540
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphadenopathy, Hepatosplenomegaly ORPHA:169154
Hyper-Igd Syndrome
Optic disc pallor, Splenomegaly, Lymphadenitis, Lymphadenopathy, Hepatosplenomegaly OMIM:260920
Cerebrotendinous Xanthomatosis
Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Decreased nerve conduct... ORPHA:909
Poems Syndrome
Papilledema, Lipodystrophy, Lymphadenopathy ORPHA:2905
Macrophage Activation Syndrome
Splenomegaly, Lymphadenopathy ORPHA:158061
Hyperimmunoglobulinemia D With Periodic Fever
Lymphadenopathy ORPHA:343
Waldenström Macroglobulinemia
Splenomegaly, Multifocal epileptiform discharges, Hearing impairment, Lymphadenopathy ORPHA:33226
Immunodeficiency With Hyper-Igm, Type 1
Splenomegaly, Enlarged tonsils, Absence of lymph node germinal center OMIM:308230
Mixed Connective Tissue Disease
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:809
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Splenomegaly, Lymphadenopathy ORPHA:436159
Agammaglobulinemia, X-Linked
Lymph node hypoplasia, Hearing impairment OMIM:300755
Immunodeficiency, Common Variable, 8, With Autoimmunity
Splenomegaly, Generalized lymphadenopathy, Lymphadenopathy OMIM:614700
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Lymphadenopathy OMIM:304790
Lig4 Syndrome
Lymphadenopathy ORPHA:99812
Chediak-Higashi Syndrome
Decreased nerve conduction velocity, Splenomegaly, Lymphadenopathy OMIM:214500
Cutaneous Neuroendocrine Carcinoma
Chronic noninfectious lymphadenopathy ORPHA:79140
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Cervical lymphadenopathy, Cellulitis, Lymphadenopathy OMIM:617718
Acute Interstitial Pneumonia
Lymphadenopathy ORPHA:79126
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Splenomegaly, Lymphadenitis, Lymphadenopathy OMIM:615895
Malt Lymphoma
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:52417
Hemophagocytic Lymphohistiocytosis, Familial, 2
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly OMIM:603553
Farber Disease
Flexion contracture, Lymphadenopathy, Hepatosplenomegaly ORPHA:333
Hemophagocytic Lymphohistiocytosis, Familial, 1
Splenomegaly, Lymphadenopathy OMIM:267700
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Splenomegaly, Lymphadenopathy, Bilateral sensorineural hearing impairment, Poly... OMIM:619418
Pulmonary Capillary Hemangiomatosis
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:199241
Hennekam Syndrome
Camptodactyly of finger, External ear malformation, Splenomegaly, Pulmonary lymphangiectasia, Lym... ORPHA:2136
Granulomatous Disease, Chronic, X-Linked
Splenomegaly, Lymphadenitis, Cellulitis, Lymphadenopathy OMIM:306400
Acute Promyelocytic Leukemia
Lymphadenopathy ORPHA:520
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Splenomegaly, Optic atrophy, Lymphadenopathy, Hepatosplenomegaly, Panniculitis, Bone marrow hypoc... OMIM:615688
Pediatric Systemic Lupus Erythematosus
Lymphadenopathy ORPHA:93552
Drug Reaction With Eosinophilia And Systemic Symptoms
Lymphadenopathy ORPHA:139402
Abnormality of the lymphatic system, Optic atrophy, Lymphadenopathy, Shagreen patch, Pulmonary ly... ORPHA:538
Lymphatic Filariasis
Lymphadenitis, Abnormality of the lymphatic system, Lymphangiectasis, Lymphadenopathy ORPHA:2035
Carney Triad
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:139411
Tangier Disease
Orange discolored tonsils, Facial diplegia, Chronic noninfectious lymphadenopathy, Hepatosplenome... ORPHA:31150
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Flexion contracture, Enthesitis, Lymphadenopathy, Hepatosplenomegaly ORPHA:85408
Kikuchi-Fujimoto Disease
Generalized lymphadenopathy, Splenomegaly, Cervical lymphadenopathy, Abnormal lymph node morpholo... ORPHA:50918
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Absence of lymph node germinal center, Hepatosplenomegaly ORPHA:79124
Mend Syndrome
Abnormal auditory evoked potentials, Low-set ears ORPHA:401973
Selective Igm Deficiency
Lymphadenitis, Fasciitis, Cellulitis, Lymphadenopathy ORPHA:331235
Proteasome-Associated Autoinflammatory Syndrome 1
Lipodystrophy, Camptodactyly of finger, Splenomegaly, Adipose tissue loss, Flexion contracture, E... OMIM:256040
Abnormality of the spleen, Mediastinal lymphadenopathy, Lymphadenopathy, Atypical scarring of ski... ORPHA:228123
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Splenomegaly, Fasciitis, Cellulitis, Lymphadenopathy ORPHA:32960
Acute Generalized Exanthematous Pustulosis
Lymphadenopathy ORPHA:293173
Systemic Mastocytosis With Associated Hematologic Neoplasm
Splenomegaly, Lymphadenopathy ORPHA:98849
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
Chédiak-Higashi Syndrome
Decreased nerve conduction velocity, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly ORPHA:167
Autoimmune Lymphoproliferative Syndrome
Chronic noninfectious lymphadenopathy, Hypersplenism, Splenomegaly, Lymphadenopathy, Panniculitis... ORPHA:3261
Spondyloenchondrodysplasia With Immune Dysregulation
Low-set ears, Lymphadenopathy OMIM:607944
Q Fever
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly ORPHA:781
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
Multiple Myeloma
Splenomegaly, Lymphadenopathy ORPHA:29073
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Splenomegaly, Lymphadenopathy ORPHA:37042
Adenocarcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424016
Autosomal Recessive Malignant Osteopetrosis
Splenomegaly, Optic nerve compression, Hearing impairment, Lymphadenopathy ORPHA:667
Immunodeficiency 31C
Splenomegaly, Lymphadenopathy OMIM:614162
Cervical lymphadenopathy, Enthesitis, Lymphadenopathy ORPHA:324625
Familial Mediterranean Fever
Splenomegaly, Lymphadenopathy ORPHA:342
Ileal Neuroendocrine Tumor
Lymphadenopathy ORPHA:100078
Blau Syndrome
Facial palsy, Camptodactyly of finger, Splenomegaly, Lymphadenopathy, Abnormal cranial nerve morp... ORPHA:90340
Abnormal lymph node morphology, Facial palsy, Scarring, Lymphadenopathy ORPHA:797
Hypersplenism, Splenomegaly, Abnormality of the peripheral nervous system, Lymphadenopathy ORPHA:1304
Igg4-Related Ophthalmic Disease
Abnormality of infra-orbital nerve, Abnormal fifth cranial nerve morphology, Lymphadenopathy ORPHA:449563
Cushing Syndrome Due To Ectopic Acth Secretion
Neoplasm of the thymus, Dorsocervical fat pad, Fatiguable weakness of proximal limb muscles, Abno... ORPHA:99889
Immunodeficiency 82 With Systemic Inflammation
Splenomegaly, Follicular hyperplasia, Cholesteatoma, Lymphadenopathy OMIM:619381
Igg4-Related Submandibular Gland Disease
Lymphadenopathy ORPHA:449432
Igg4-Related Dacryoadenitis And Sialadenitis
Optic nerve compression, Lymphadenopathy ORPHA:79078
Behçet Disease
Splenomegaly, Lymphadenopathy ORPHA:117
Primary Sjögren Syndrome
Abnormality of the peripheral nervous system, Lymphadenopathy ORPHA:289390
Systemic Lupus Erythematosus
Lymphadenopathy ORPHA:536
Igg4-Related Kidney Disease
Lymphadenitis, Lymphadenopathy ORPHA:449395
Crimean-Congo Hemorrhagic Fever
Splenomegaly, Lymphadenopathy ORPHA:99827
Marburg Hemorrhagic Fever
Lymphadenopathy ORPHA:99826
African Trypanosomiasis
Splenomegaly, Hepatosplenomegaly, Papilledema, Lymphadenopathy ORPHA:3385
Papilledema, Lymphadenopathy ORPHA:509


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 Erlec1

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 Erlec1.

No publications found that use IMPC mice or data for Erlec1.

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
Erlec1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Erlec1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Erlec1tm1e(KOMP)Mbp Targeted, non-conditional allele ES Cells
Erlec1tm1a(KOMP)Mbp KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Erlec1em1(IMPC)Mbp Inter-exon deletion Mice, Tissue

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter