Gene Summary

Name:
lysosomal-associated membrane protein 3
Synonyms:
TSC403,  Cd208,  DC-LAMP,  1200002D17Rik

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 epididymis morphology Lamp3em1(IMPC)Tcp HOM Early adult 0.00
abnormal lymph node morphology Lamp3em1(IMPC)Tcp HOM Early adult 0.00
abnormal skin morphology Lamp3em1(IMPC)Tcp HOM Early adult 0.00
abnormal sternum morphology Lamp3em1(IMPC)Tcp 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.

Eye Morphology

Images Ophthalmoscopy

30 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Gross Pathology and Tissue Collection

Images

8 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Electrocardiogram (ECG)

Waveform Image

1 Images

Human diseases caused by Lamp3 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 Lamp3 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
Squamous Cell Carcinoma Of The Esophagus
Clinodactyly of the 5th toe, Lymphadenopathy ORPHA:99977
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center OMIM:235550
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Follicular hyperplasia ORPHA:60026
Hereditary Progressive Mucinous Histiocytosis
Lymphadenopathy ORPHA:158025
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Laryngotracheoesophageal Cleft
Recurrent respiratory infections, Neonatal respiratory distress, Dyspnea, Stridor, Cough, Aspiration ORPHA:2004
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Adenocarcinoma Of The Esophagus
Clinodactyly of the 5th toe, Lymphadenopathy ORPHA:99976
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Lymphadenopathy, Follicular hyperplasia OMIM:619126
Kerion Celsi
Lymphadenopathy ORPHA:499
Cleft Larynx, Posterior
Aspiration OMIM:215800
Immunodeficiency With Hyper-Igm, Type 5
Epididymitis, Lymphadenopathy OMIM:608106
Familial Nasal Acilia
Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi... ORPHA:922
Kimura Disease
Lymphadenopathy, Follicular hyperplasia ORPHA:482
Immunodeficiency 104
Splenomegaly, Lymphadenopathy OMIM:608971
Diethylstilbestrol Syndrome
Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula... ORPHA:1916
Chronic Pneumonitis Of Infancy
Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi... ORPHA:91359
Autoinflammation With Episodic Fever And Lymphadenopathy
Splenomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Mast Cell Sarcoma
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:66661
Immunodeficiency 32A
Lymphadenitis, Lymphadenopathy OMIM:614893
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Hepatosplenomegaly, Clubbing of fingers, Lymphadenopathy OMIM:618982
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Burkitt Lymphoma
Abnormality of the spleen, Abnormality of the ovary, Abnormal lymph node morphology ORPHA:543
Follicular Lymphoma
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:545
Roifman Syndrome
Hip contracture, Epiphyseal dysplasia, Hypogonadotropic hypogonadism, Delayed proximal femoral ep... ORPHA:353298
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Splenomegaly, Lymphadenopathy ORPHA:444463
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:86893
Obesity-Hypoventilation Syndrome
Hypoventilation OMIM:257500
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Lymphadenopathy OMIM:618261
Immunodeficiency 64 With Lymphoproliferation
Splenomegaly, Mediastinal lymphadenopathy, Cervical lymphadenopathy, Lymphadenopathy, Hepatosplen... OMIM:618534
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
Hyperekplexia 1
Aspiration, Apnea OMIM:149400
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Lymphadenopathy OMIM:615513
Granulomatous Slack Skin
Abnormal lymph node morphology ORPHA:33111
Roifman Syndrome
Hip contracture, Short metacarpal, Splenomegaly, Short toe, Irregular femoral epiphysis, Lymphade... OMIM:616651
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Lymphadenopathy, Fluctuating splenomegaly OMIM:619220
Immunodeficiency 27A
Hypoplasia of the femoral head, Splenomegaly, Enlarged mesenteric lymph node, Lymphadenopathy, He... OMIM:209950
Immunodeficiency 76
Splenomegaly, Lymphadenopathy OMIM:619164
Mu-Heavy Chain Disease
Splenomegaly, Lymphadenopathy ORPHA:100024
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy OMIM:300853
Alpha-Heavy Chain Disease
Splenomegaly, Lymphadenopathy ORPHA:100025
Autoimmune Lymphoproliferative Syndrome, Type Iii
Generalized lymphadenopathy, Follicular hyperplasia, Mediastinal lymphadenopathy, Splenomegaly, L... OMIM:615559
Immunodeficiency, Common Variable, 2
Splenomegaly, Follicular hyperplasia, Lymphadenopathy OMIM:240500
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Generalized Eruptive Histiocytosis
Lymphadenopathy ORPHA:157991
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center OMIM:606843
Rosaï-Dorfman Disease
Lymphadenopathy ORPHA:158014
Immunodeficiency 52
Splenomegaly, Lymphadenopathy OMIM:617514
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Lymphadenopathy, Follicular hyperplasia OMIM:619846
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly OMIM:613101
Hemophagocytic Lymphohistiocytosis, Familial, 4
Splenomegaly, Lymphadenopathy OMIM:603552
Tay-Sachs Disease
Aspiration OMIM:272800
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum OMIM:140850
Pfapa Syndrome
Splenomegaly, Lymphadenopathy ORPHA:42642
Developmental And Epileptic Encephalopathy 38
Aspiration OMIM:617020
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy OMIM:618987
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormality of the lymphatic system, Abnormal testis morphology, Abnormal lymph node morphology ORPHA:54251
Immunodeficiency 103, Susceptibility To Fungal Infections
Lymphadenopathy OMIM:212050
Caspase 8 Deficiency
Splenomegaly, Lymphadenopathy OMIM:607271
Leukocyte Adhesion Deficiency, Type Iii
Splenomegaly, Abnormal lymph node morphology, Hepatosplenomegaly OMIM:612840
Fish-Eye Disease
Splenomegaly, Lymphadenopathy ORPHA:79292
Immunodeficiency With Hyper-Igm, Type 4
Absence of lymph node germinal center OMIM:608184
Classic Mycosis Fungoides
Splenomegaly, Lymphadenopathy ORPHA:2584
Tularemia
Abnormal nasopharyngeal adenoid morphology, Cervical lymphadenopathy, Mediastinal lymphadenopathy... ORPHA:3392
Amyotrophic Lateral Sclerosis 21
Respiratory insufficiency due to muscle weakness, Aspiration OMIM:606070
Activated Pi3K-Delta Syndrome
Splenomegaly, Recurrent tonsillitis, Lymphadenopathy ORPHA:397596
Desmoplastic Small Round Cell Tumor
Mediastinal lymphadenopathy, Ovarian neoplasm, Testicular neoplasm, Lymphadenopathy ORPHA:83469
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Atelectasis, Respiratory insufficiency, Pulmonary arterial hypertension, Respira... ORPHA:258
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, Absence of lymph node germinal center ORPHA:277
Immunodeficiency 109 With Lymphoproliferation
Splenomegaly, Generalized lymphadenopathy OMIM:620282
Schnitzler Syndrome
Splenomegaly, Lymphadenopathy ORPHA:37748
Familial Cold Autoinflammatory Syndrome 2
Splenomegaly, Lymphadenopathy OMIM:611762
Vocal Cord And Pharyngeal Distal Myopathy
Respiratory insufficiency due to muscle weakness, Aspiration ORPHA:600
Congenital Toxoplasmosis
Lymphadenopathy ORPHA:858
Pleural Mesothelioma
Lymphadenopathy ORPHA:50251
Immunodeficiency 105
Hepatosplenomegaly, Absence of lymph node germinal center OMIM:619924
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Classic Hodgkin Lymphoma
Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy ORPHA:391
Acquired Hypertrichosis Lanuginosa
Ovarian neoplasm, Lymphadenopathy ORPHA:2221
Pseudomyxoma Peritonei
Lymphadenopathy ORPHA:26790
Immunodeficiency, Common Variable, 1
Splenomegaly, Lymphadenopathy OMIM:607594
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Splenomegaly, Lymphadenopathy OMIM:150550
Immunodeficiency 54
Splenomegaly, Lymphadenopathy OMIM:609981
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Splenomegaly, Lymphadenopathy OMIM:618495
Gm2-Gangliosidosis, Ab Variant
Aspiration OMIM:272750
Indolent Systemic Mastocytosis
Splenomegaly, Lymphadenopathy ORPHA:98848
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Generalized lymphadenopathy, Aplasia of the thymus, Genital ulcers, Splenomegaly, Lymph node hypo... OMIM:602450
Histiocytosis-Lymphadenopathy Plus Syndrome
Hallux valgus, Hypergonadotropic hypogonadism, Rocker bottom foot, Camptodactyly of finger, Splen... OMIM:602782
Proteasome-Associated Autoinflammatory Syndrome 2
Clinodactyly, Brachydactyly, Lymphadenopathy OMIM:618048
Heme Oxygenase 1 Deficiency
Asplenia, Cervical lymphadenopathy, Lymphadenopathy OMIM:614034
Spinocerebellar Ataxia Type 8
Aspiration ORPHA:98760
Cold Agglutinin Disease
Splenomegaly, Lymphadenopathy ORPHA:56425
Hereditary Amyloidosis With Primary Renal Involvement
Primary testicular failure, Abnormal lymph node morphology, Lymphadenopathy, Hepatosplenomegaly, ... ORPHA:85450
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Splenomegaly, Lymphadenopathy OMIM:619375
Bent Bone Dysplasia Syndrome 2
Bowed humerus, Ulnar bowing, Femoral bowing, Thin ribs, Short sternum, Short ribs, Hypoplastic il... OMIM:620076
Lymphoproliferative Syndrome 2
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly OMIM:615122
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
Aspiration, Neonatal respiratory distress OMIM:618922
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphadenitis, Abnormal lymph node morphology, Lymphadenopathy, Hepatosplenomegaly ORPHA:911
Lig4 Syndrome
Clinodactyly of the 5th finger, Cryptorchidism, Hypoplasia of penis, Lymphadenopathy ORPHA:99812
Congenital Disorder Of Glycosylation, Type Im
Aspiration OMIM:610768
Lymphatic Filariasis
Orchitis, Lymphadenitis, Abnormality of the lymphatic system, Epididymitis, Vaginal hydrocele, Ly... ORPHA:2035
Pontine Tegmental Cap Dysplasia
Aspiration OMIM:614688
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Stridor, Aspiration, Neonatal respiratory distress, Apnea OMIM:614653
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Aspiration ORPHA:2148
Omenn Syndrome
Splenomegaly, Short toe, Abnormal metaphysis morphology, Lymphadenopathy ORPHA:39041
Immunodeficiency 7
Splenomegaly, Lymphadenopathy OMIM:615387
Middle Ear Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100084
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Aspiration OMIM:618733
Cinca Syndrome
Lymphadenopathy, Hepatosplenomegaly OMIM:607115
Systemic-Onset Juvenile Idiopathic Arthritis
Splenomegaly, Lymphadenopathy ORPHA:85414
Oculopharyngodistal Myopathy 1
Respiratory distress, Hypercapnia, Reduced forced vital capacity, Respiratory insufficiency due t... OMIM:164310
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Splenomegaly, Lymphadenitis, Recurrent tonsillitis, Lymphadenopathy, Hepatosplenomegaly OMIM:618935
Rhabdoid Tumor
Lymphadenopathy ORPHA:69077
Deafness-Lymphedema-Leukemia Syndrome
Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy ORPHA:3226
Autoimmune Lymphoproliferative Syndrome, Type Iia
Splenomegaly, Follicular hyperplasia, Chronic noninfectious lymphadenopathy, Lymphadenopathy OMIM:603909
Griscelli Syndrome Type 2
Splenomegaly, Lymphadenopathy ORPHA:79477
Esophageal Atresia
Respiratory distress, Recurrent respiratory infections, Bronchitis, Episodic respiratory distress... ORPHA:1199
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Lymphadenopathy, Hepatosplenomegaly OMIM:619750
Floating-Harbor Syndrome
11 pairs of ribs, Brachydactyly, Ivory epiphyses of the distal phalanges of the hand, Hypospadias... OMIM:136140
Leishmaniasis
Splenomegaly, Lymphadenopathy ORPHA:507
Cutaneous Mastocytoma
Lymphadenopathy ORPHA:79455
Immunodeficiency 10
Lymphadenopathy OMIM:612783
Boutonneuse Fever
Cervical lymphadenopathy, Lymphadenopathy ORPHA:83313
Lymphoproliferative Syndrome, X-Linked, 1
Splenomegaly, Lymphadenopathy OMIM:308240
Niemann-Pick Disease, Type A
Splenomegaly, Lymphadenopathy OMIM:257200
Griscelli Syndrome
Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy ORPHA:381
Cinca Syndrome
Splenomegaly, Brachydactyly, Lymphadenopathy ORPHA:1451
Papa Syndrome
Lymphadenopathy ORPHA:69126
Immunodeficiency 91 And Hyperinflammation
Lymphadenopathy, Hepatosplenomegaly OMIM:619644
Sézary Syndrome
Splenomegaly, Lymphadenopathy ORPHA:3162
Nephroblastoma
Lymphadenopathy ORPHA:654
Squamous Cell Carcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424019
Thyroid Lymphoma
Lymphadenopathy ORPHA:97285
Cyclic Neutropenia
Cervical lymphadenopathy, Recurrent tonsillitis, Lymphadenopathy ORPHA:2686
Halperin-Birk Syndrome
Aspiration OMIM:618651
Rett Syndrome, Congenital Variant
Aspiration OMIM:613454
Immunodeficiency 97 With Autoinflammation
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Hepatosplenomegaly OMIM:619802
Primary Myelofibrosis
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly ORPHA:824
H Syndrome
Hallux valgus, Lymphadenopathy, Hepatosplenomegaly, Azoospermia, Hypogonadism, Camptodactyly, Mic... ORPHA:168569
Pulmonary Non-Tuberculous Mycobacterial Infection
Lymphadenopathy ORPHA:411703
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Absent peripheral lymph nodes in presence of infection ORPHA:98813
Proteasome-Associated Autoinflammatory Syndrome 4
Splenomegaly, Lymphadenopathy OMIM:619183
Aggressive Systemic Mastocytosis
Hypersplenism, Lymphadenopathy, Hepatosplenomegaly ORPHA:98850
American Trypanosomiasis
Splenomegaly, Lymphadenopathy ORPHA:3386
Scrub Typhus
Splenomegaly, Lymphadenopathy ORPHA:83317
Joint Contractures, Osteochondromas, And B-Cell Lymphoma
Hip contracture, Generalized lymphadenopathy OMIM:620232
Diffuse Cutaneous Mastocytosis
Abnormality of the spleen, Lymphadenopathy ORPHA:79456
Anaplastic Thyroid Carcinoma
Lymphadenopathy ORPHA:142
Opitz Gbbb Syndrome
Aspiration OMIM:300000
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Splenomegaly, Lymphadenopathy OMIM:616100
Floating-Harbor Syndrome
11 pairs of ribs, Short metacarpal, Brachydactyly, Hypospadias, Precocious puberty, Cryptorchidis... ORPHA:2044
Castleman Disease
Mediastinal lymphadenopathy, Follicular hyperplasia, Generalized lymphadenopathy, Lymphadenopathy ORPHA:160
Felty Syndrome
Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy ORPHA:47612
Immunodeficiency, Common Variable, 8, With Autoimmunity
Splenomegaly, Clubbing of fingers, Generalized lymphadenopathy, Lymphadenopathy OMIM:614700
Lymphoproliferative Syndrome 1
Splenomegaly, Lymphadenopathy OMIM:613011
Alternating Hemiplegia Of Childhood
Respiratory distress, Aspiration, Apnea ORPHA:2131
Melkersson-Rosenthal Syndrome
Lymphadenopathy ORPHA:2483
Medullary Thyroid Carcinoma
Lymphadenopathy ORPHA:1332
Hypocomplementemic Urticarial Vasculitis
Splenomegaly, Lymphadenopathy ORPHA:36412
Craniorachischisis
Bifid sternum ORPHA:63260
Immunodeficiency 98 With Autoinflammation, X-Linked
Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy OMIM:301078
Coccidioidomycosis
Abnormal sperm morphology, Abnormality of the spleen, Mediastinal lymphadenopathy, Lymphadenopath... ORPHA:228123
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphadenopathy, Hepatosplenomegaly ORPHA:169154
Developmental And Epileptic Encephalopathy 100
Recurrent respiratory infections, Aspiration OMIM:619777
Combined Immunodeficiency Due To Crac Channel Dysfunction
Splenomegaly, Lymphadenopathy ORPHA:169090
Omenn Syndrome
Splenomegaly, Hypoplasia of the thymus, Lymphadenopathy OMIM:603554
Poems Syndrome
Metaphyseal sclerosis, Clubbing of fingers, Hypogonadism, Lymphadenopathy ORPHA:2905
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Abnormal metacarpophalangeal joint morphology, Abnormal metatarsal morphology, Lymphadenopathy, A... ORPHA:85408
Gamma-Heavy Chain Disease
Splenomegaly, Lymphadenopathy ORPHA:100026
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Legionnaires Disease
Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy ORPHA:549
Pulmonary Capillary Hemangiomatosis
Mediastinal lymphadenopathy, Clubbing of fingers, Lymphadenopathy ORPHA:199241
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Enlarged tonsils, Lymphadenopathy, Hepatosplenomegaly OMIM:606367
Spondyloenchondrodysplasia With Immune Dysregulation
Metaphyseal dysplasia, Short iliac bones, Metaphyseal sclerosis, Metaphyseal widening, Lymphadeno... OMIM:607944
Mixed Connective Tissue Disease
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:809
Proteasome-Associated Autoinflammatory Syndrome 3
Splenomegaly, Finger swelling, Lymphadenopathy OMIM:617591
Ogden Syndrome
Peripheral pulmonary artery stenosis, Apnea, Pulmonary artery stenosis, Iron deficiency anemia, P... OMIM:300855
Klatskin Tumor
Lymphadenopathy ORPHA:99978
Adnp Syndrome
Respiratory distress, Aspiration, Recurrent upper respiratory tract infections ORPHA:404448
Immunodeficiency With Hyper-Igm, Type 1
Splenomegaly, Enlarged tonsils, Absence of lymph node germinal center OMIM:308230
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Aspiration ORPHA:96182
Macrophage Activation Syndrome
Splenomegaly, Lymphadenopathy ORPHA:158061
Farber Disease
Short toe, Lymphadenopathy, Short finger, Hepatosplenomegaly ORPHA:333
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Splenomegaly, Lymphadenopathy ORPHA:436159
Hyperimmunoglobulinemia D With Periodic Fever
Lymphadenopathy ORPHA:343
Familial Hemophagocytic Lymphohistiocytosis
Splenomegaly, Lymphadenopathy ORPHA:540
Mevalonic Aciduria
Fluctuating splenomegaly, Lymphadenopathy, Hepatosplenomegaly OMIM:610377
Von Hippel-Lindau Syndrome
Papillary cystadenoma of the epididymis, Epididymal cyst OMIM:193300
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Splenomegaly, Lymphadenitis, Lymphadenopathy OMIM:615895
Renal Cysts And Diabetes Syndrome
Hypospadias, Hypoplasia of the uterus, Bicornuate uterus, Epididymal cyst, Atretic vas deferens OMIM:137920
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Lymphadenopathy OMIM:304790
Acute Interstitial Pneumonia
Lymphadenopathy ORPHA:79126
Bilateral Perisylvian Polymicrogyria
Aspiration, Apnea ORPHA:98889
Pancreatoblastoma
Abnormal lymph node morphology ORPHA:677
Hemophagocytic Lymphohistiocytosis, Familial, 2
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly OMIM:603553
Hyper-Igd Syndrome
Splenomegaly, Lymphadenitis, Lymphadenopathy, Hepatosplenomegaly OMIM:260920
Hemophagocytic Lymphohistiocytosis, Familial, 1
Splenomegaly, Lymphadenopathy OMIM:267700
Aregenerative Anemia
Bone marrow hypocellularity, Lymphadenopathy ORPHA:101096
Pediatric Systemic Lupus Erythematosus
Lymphadenopathy ORPHA:93552
Graft Versus Host Disease
Lymphadenopathy, Hepatosplenomegaly ORPHA:39812
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Splenomegaly, Lymphadenitis, Lymphadenopathy OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Splenomegaly, Lymphadenitis, Lymphadenopathy OMIM:233710
Acute Promyelocytic Leukemia
Lymphadenopathy ORPHA:520
Autosomal Recessive Malignant Osteopetrosis
Bowing of the long bones, Splenomegaly, Abnormal rib morphology, Lymphadenopathy, Abnormal epiphy... ORPHA:667
Familial Pancreatic Carcinoma
Ovarian carcinoma, Lymphadenopathy, Hepatosplenomegaly ORPHA:1333
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Splenomegaly, Lymphadenitis, Lymphadenopathy OMIM:233690
Coffin-Lowry Syndrome
Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, Tapered finger, Coxa va... OMIM:303600
Kikuchi-Fujimoto Disease
Generalized lymphadenopathy, Splenomegaly, Cervical lymphadenopathy, Abnormal lymph node morpholo... ORPHA:50918
Hennekam Syndrome
Finger syndactyly, Camptodactyly of finger, Splenomegaly, Pulmonary lymphangiectasia, Lymphadenop... ORPHA:2136
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Orchitis, Splenomegaly, Abnormal sacroiliac joint morphology, Lymphadenopathy ORPHA:32960
Drug Reaction With Eosinophilia And Systemic Symptoms
Lymphadenopathy ORPHA:139402
Proteasome-Associated Autoinflammatory Syndrome 1
Hallux valgus, Hypoplastic scapulae, Camptodactyly of finger, Splenomegaly, Long fingers, Epididy... OMIM:256040
Malt Lymphoma
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:52417
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Absence of lymph node germinal center, Hepatosplenomegaly ORPHA:79124
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Lymphadenopathy OMIM:617099
Waldenström Macroglobulinemia
Splenomegaly, Lymphadenopathy ORPHA:33226
Carney Triad
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:139411
Lymphangioleiomyomatosis
Pulmonary lymphangiomyomatosis, Abnormality of the lymphatic system, Abnormal morphology of femal... ORPHA:538
Chediak-Higashi Syndrome
Splenomegaly, Lymphadenopathy OMIM:214500
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Splenomegaly, Polysplenia, Lymphadenopathy OMIM:619418
Systemic Mastocytosis With Associated Hematologic Neoplasm
Splenomegaly, Lymphadenopathy ORPHA:98849
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Lymphadenopathy ORPHA:83471
Q Fever
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly ORPHA:781
Acute Generalized Exanthematous Pustulosis
Lymphadenopathy ORPHA:293173
Selective Igm Deficiency
Lymphadenitis, Lymphadenopathy ORPHA:331235
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Cervical lymphadenopathy, Lymphadenopathy OMIM:617718
Von Hippel-Lindau Disease
Papillary cystadenoma of the epididymis, Epididymal cyst ORPHA:892
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Splenomegaly, Lymphadenopathy ORPHA:37042
Granulomatous Disease, Chronic, X-Linked
Splenomegaly, Lymphadenitis, Lymphadenopathy OMIM:306400
Autoimmune Lymphoproliferative Syndrome
Chronic noninfectious lymphadenopathy, Hypersplenism, Splenomegaly, Lymphadenopathy, Bone marrow ... ORPHA:3261
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly OMIM:615688
Brucellosis
Hypersplenism, Splenomegaly, Orchitis, Epididymitis, Lymphadenopathy, Sacroiliac arthritis ORPHA:1304
Chédiak-Higashi Syndrome
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly ORPHA:167
Familial Mediterranean Fever
Orchitis, Splenomegaly, Lymphadenopathy ORPHA:342
Common Variable Immunodeficiency
Splenomegaly, Lymphadenopathy ORPHA:1572
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hemolytic anemia, Neonatal respiratory distress, Apnea, Asthma, Hepatosplenomegaly, Aspiration OMIM:619503
Immunodeficiency 55
Lymphadenopathy OMIM:617827
Multiple Myeloma
Splenomegaly, Lymphadenopathy ORPHA:29073
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Recurrent respiratory infections, Asthma, Pneumonia, Aspiration ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Recurrent respiratory infections, Asthma, Pneumonia, Aspiration ORPHA:353277
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Absent peripheral lymph nodes in presence of infection OMIM:600802
Immunodeficiency 31C
Splenomegaly, Lymphadenopathy OMIM:614162
Igg4-Related Submandibular Gland Disease
Prostatitis, Lymphadenopathy ORPHA:449432
Behçet Disease
Orchitis, Splenomegaly, Lymphadenopathy ORPHA:117
Adenocarcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424016
Igg4-Related Ophthalmic Disease
Orchitis, Prostatitis, Lymphadenopathy ORPHA:449563
Sarcoidosis
Abnormal reproductive system morphology, Abnormal lymph node morphology, Lymphadenopathy ORPHA:797
Ileal Neuroendocrine Tumor
Lymphadenopathy ORPHA:100078
Chikungunya
Cervical lymphadenopathy, Lymphadenopathy ORPHA:324625
Immunodeficiency 82 With Systemic Inflammation
Splenomegaly, Follicular hyperplasia, Anoperineal fistula, Lymphadenopathy OMIM:619381
Crimean-Congo Hemorrhagic Fever
Orchitis, Splenomegaly, Epididymitis, Lymphadenopathy ORPHA:99827
Igg4-Related Kidney Disease
Lymphadenitis, Prostatitis, Lymphadenopathy ORPHA:449395
Primary Sjögren Syndrome
Vaginal dryness, Lymphadenopathy ORPHA:289390
Marburg Hemorrhagic Fever
Orchitis, Lymphadenopathy ORPHA:99826
Cushing Syndrome Due To Ectopic Acth Secretion
Neoplasm of the thymus, Prostate cancer, Abnormal lymph node morphology ORPHA:99889
Blau Syndrome
Splenomegaly, Camptodactyly of finger, Lymphadenopathy ORPHA:90340
Systemic Lupus Erythematosus
Lymphadenopathy ORPHA:536
Igg4-Related Dacryoadenitis And Sialadenitis
Lymphadenopathy ORPHA:79078
African Trypanosomiasis
Splenomegaly, Hepatosplenomegaly, Lymphadenopathy 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 Lamp3

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 Lamp3.

No publications found that use IMPC mice or data for Lamp3.

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
Lamp3tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Lamp3tm1(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Lamp3em1(IMPC)Tcp Indel Mice
Lamp3tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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