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Gene: Rnpepl1 MGI:1914170

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Gene Summary

Name:
arginyl aminopeptidase (aminopeptidase B)-like 1
Synonyms:
1110014H17Rik

Order Alleles

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 lymph node morphology Rnpepl1em1(IMPC)Mbp HOM Early adult 0.00
enlarged lymph nodes Rnpepl1em1(IMPC)Mbp HOM Early adult 0.00
increased vertical activity Rnpepl1em1(IMPC)Mbp HOM Early adult 1.75×10-05
cataract Rnpepl1em1(IMPC)Mbp HOM Early adult 7.72×10-05

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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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Histopathology

Images

4 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Human diseases caused by Rnpepl1 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 Rnpepl1 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
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract, Ataxia ORPHA:1397
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Spinocerebellar Ataxia, Autosomal Recessive 24
Gait ataxia, Cataract, Limb ataxia, Spastic gait OMIM:617133
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 36
Cataract OMIM:613887
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center OMIM:235550
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Hereditary Progressive Mucinous Histiocytosis
Lymphadenopathy ORPHA:158025
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract, Splenomegaly OMIM:619813
Pulmonary Nodular Lymphoid Hyperplasia
Follicular hyperplasia, Mediastinal lymphadenopathy ORPHA:60026
Aniridia 3
Cataract OMIM:617142
Reticuloendotheliosis, X-Linked
Lymphadenopathy, Hepatosplenomegaly OMIM:312500
Corneal Dystrophy, Groenouw Type I
Granular corneal dystrophy, Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy OMIM:121900
Dysequilibrium Syndrome
Cataract, Gait disturbance, Ataxia ORPHA:1766
Cataract 42
Cataract, Developmental cataract OMIM:115900
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Kerion Celsi
Lymphadenopathy ORPHA:499
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Immunodeficiency 75 With Lymphoproliferation
Lymphadenopathy, Follicular hyperplasia, Hepatosplenomegaly OMIM:619126
Carcinoma Of Esophagus
Lymphadenopathy, Dysphagia ORPHA:70482
Trichomegaly
Cataract OMIM:190330
Cataract-Microcornea Syndrome
Microcornea, Cataract, Iris coloboma, Corneal opacity, Corneal dystrophy ORPHA:1377
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Conjunctivitis, Lymphadenopathy OMIM:617772
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Cataract 9, Multiple Types
Developmental cataract, Microcornea, Cataract, Iris coloboma, Progressive cataract OMIM:604219
Thanatophoric Dysplasia, Glasgow Variant
Cataract, Hepatosplenomegaly OMIM:273680
Kimura Disease
Lymphadenopathy, Follicular hyperplasia ORPHA:482
Megalocornea
Mosaic corneal dystrophy, Megalocornea, Corneal arcus, Iris transillumination defect, Deep anteri... OMIM:309300
Galactosemia Iv
Cataract OMIM:618881
Hypoalphalipoproteinemia, Primary, 2
Cataract, Corneal arcus OMIM:618463
Immunodeficiency 104
Lymphadenopathy, Splenomegaly OMIM:608971
Anterior Segment Dysgenesis 8
Iris transillumination defect, Persistent pupillary membrane, Hypoplasia of the iris, Uveal ectro... OMIM:617319
Autoinflammation With Episodic Fever And Lymphadenopathy
Lymphadenopathy, Splenomegaly, Recurrent tonsillitis OMIM:618852
Cataract 11, Multiple Types
Cataract, Developmental cataract OMIM:610623
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Fish-Eye Disease
Splenomegaly, Lymphadenopathy, Corneal opacity ORPHA:79292
Immunodeficiency 32A
Lymphadenitis, Lymphadenopathy OMIM:614893
Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly, Ataxia ORPHA:98293
Microphthalmia, Isolated, With Coloboma 3
Iris coloboma, Cataract OMIM:610092
Mast Cell Sarcoma
Lymphadenopathy, Splenomegaly, Mediastinal lymphadenopathy ORPHA:66661
Exfoliation Syndrome
Phakodonesis, Pigment deposition in the trabecular meshwork, Mydriasis, Iris hypoperfusion, Lens ... OMIM:177650
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Oral-pharyngeal dysphagia ORPHA:100083
Pellagra-Like Syndrome
Cataract, Ataxia OMIM:260650
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Galactose Epimerase Deficiency
Cataract, Splenomegaly ORPHA:79238
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphadenopathy, Splenomegaly ORPHA:444463
Follicular Lymphoma
Lymphadenopathy, Splenomegaly, Mediastinal lymphadenopathy ORPHA:545
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:86893
Lymphoproliferative Syndrome 3
Lymphadenopathy, Hepatosplenomegaly OMIM:618261
Mevalonic Aciduria
Cataract, Splenomegaly, Ataxia ORPHA:29
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Aniridia, Microcornea OMIM:106230
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy ORPHA:97290
Cataract 10, Multiple Types
Posterior Y-sutural cataract, Nuclear cataract, Zonular cataract, Developmental cataract OMIM:600881
Cochleosaccular Degeneration-Cataract Syndrome
Cataract, Ataxia ORPHA:3233
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy OMIM:608106
Familial Papillary Or Follicular Thyroid Carcinoma
Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy ORPHA:319487
Granulomatous Slack Skin
Abnormal lymph node morphology ORPHA:33111
Cataract 47
Cataract, Microcornea OMIM:612018
Cataract 1, Multiple Types
Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract, Microcornea OMIM:116200
Immunodeficiency, Common Variable, 2
Conjunctivitis, Lymphadenopathy, Follicular hyperplasia, Splenomegaly OMIM:240500
Peroxisome Biogenesis Disorder 11B
Cataract, Hepatosplenomegaly OMIM:614885
Anterior Segment Dysgenesis 7
Ocular anterior segment dysgenesis, Anterior synechiae of the anterior chamber, Microcornea, Buph... OMIM:269400
Immunodeficiency 76
Lymphadenopathy, Splenomegaly OMIM:619164
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Lymphadenopathy, Splenomegaly OMIM:615513
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Hemophagocytic Lymphohistiocytosis, Familial, 4
Conjunctivitis, Lymphadenopathy, Splenomegaly OMIM:603552
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Lymphadenopathy, Fluctuating splenomegaly OMIM:619220
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Lymphadenopathy, Hepatosplenomegaly OMIM:618982
Mu-Heavy Chain Disease
Lymphadenopathy, Splenomegaly ORPHA:100024
Rosaï-Dorfman Disease
Lymphadenopathy ORPHA:158014
Coats Disease
Aplasia/Hypoplasia of the iris, Cataract, Abnormal anterior chamber morphology ORPHA:190
Generalized Eruptive Histiocytosis
Lymphadenopathy ORPHA:157991
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Aniridia 2
Lens subluxation, Cataract, Iris coloboma, Aniridia OMIM:617141
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Pleural Mesothelioma
Lymphadenopathy, Dysphagia ORPHA:50251
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center OMIM:606843
Aniridia-Intellectual Disability Syndrome
Cataract, Aniridia, Ectopia lentis ORPHA:1068
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Lymphadenopathy, Follicular hyperplasia OMIM:619846
Burkitt Lymphoma
Abnormal lymph node morphology, Abnormality of the spleen ORPHA:543
Alpha-Heavy Chain Disease
Lymphadenopathy, Splenomegaly ORPHA:100025
Peters Anomaly
Developmental glaucoma, Central opacification of the cornea, Anterior synechiae of the anterior c... ORPHA:708
Ectopia Lentis Et Pupillae
Iris transillumination defect, Ectopia lentis, Cataract, Ectopia pupillae, Persistent pupillary m... OMIM:225200
Classic Hodgkin Lymphoma
Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity, Ataxia ORPHA:391
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Lymphadenopathy, Splenomegaly, Mediastinal lymphadenopathy OMIM:300853
Immunodeficiency 52
Lymphadenopathy, Splenomegaly OMIM:617514
Immunodeficiency 64 With Lymphoproliferation
Hepatosplenomegaly, Lymphadenopathy, Mediastinal lymphadenopathy, Cervical lymphadenopathy, Splen... OMIM:618534
Cataract 3, Multiple Types
Sutural cataract, Nuclear pulverulent cataract, Cerulean cataract, Developmental cataract OMIM:601547
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy OMIM:618987
Autosomal Dominant Keratitis
Limbal stem cell deficiency, Abnormal corneal limbus morphology, Corneal neovascularization, Micr... ORPHA:2334
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Lymphadenopathy, Splenomegaly, Hepatosplenomegaly OMIM:613101
Pfapa Syndrome
Lymphadenopathy, Splenomegaly ORPHA:42642
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea OMIM:619082
Autoimmune Lymphoproliferative Syndrome, Type Iii
Generalized lymphadenopathy, Hepatosplenomegaly, Lymphadenopathy, Follicular hyperplasia, Mediast... OMIM:615559
Immunodeficiency With Hyper-Igm, Type 4
Absence of lymph node germinal center OMIM:608184
Anterior Segment Dysgenesis 2
Posterior synechiae of the anterior chamber, Aniridia, Microcornea, Cataract, Peters anomaly, Cor... OMIM:610256
Cataract 5, Multiple Types
Lamellar cataract, Zonular cataract, Pulverulent cataract, Anterior polar cataract, Nuclear cataract OMIM:116800
Amoebic Keratitis
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal stromal ede... ORPHA:67043
Tularemia
Conjunctivitis, Abnormal nasopharyngeal adenoid morphology, Lymphadenopathy, Mediastinal lymphade... ORPHA:3392
Immunodeficiency 27A
Lymphadenopathy, Enlarged mesenteric lymph node, Splenomegaly, Hepatosplenomegaly OMIM:209950
Immunodeficiency 103, Susceptibility To Fungal Infections
Lymphadenopathy OMIM:212050
Nephroblastoma
Lymphadenopathy, Aniridia ORPHA:654
Immunodeficiency 10
Hypoplasia of the iris, Lymphadenopathy OMIM:612783
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Leukocyte Adhesion Deficiency, Type Iii
Abnormal lymph node morphology, Splenomegaly, Hepatosplenomegaly OMIM:612840
Proximal Myotonic Myopathy
Cataract ORPHA:606
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Generalized lymphadenopathy, Absent tonsils, Lymph node hypoplasia, Aplasia of the thymus, Spleno... OMIM:602450
Caspase 8 Deficiency
Lymphadenopathy, Splenomegaly OMIM:607271
Immunodeficiency, Common Variable, 1
Conjunctivitis, Lymphadenopathy, Splenomegaly OMIM:607594
Classic Mycosis Fungoides
Lymphadenopathy, Splenomegaly ORPHA:2584
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Splenomegaly OMIM:611762
Thyroid Lymphoma
Lymphadenopathy, Dysphagia ORPHA:97285
Cataract 20, Multiple Types
Cortical cataract, Sutural cataract, Lamellar cataract, Membranous cataract OMIM:116100
Myopia 28, Autosomal Recessive
Cataract OMIM:619781
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absence of lymph node germinal center, Absent tonsils ORPHA:277
Schnitzler Syndrome
Lymphadenopathy, Splenomegaly ORPHA:37748
Pseudomyxoma Peritonei
Lymphadenopathy ORPHA:26790
Griscelli Syndrome Type 2
Iris hypopigmentation, Lymphadenopathy, Splenomegaly ORPHA:79477
Heme Oxygenase 1 Deficiency
Cervical lymphadenopathy, Asplenia, Lymphadenopathy, Chemosis OMIM:614034
Griscelli Syndrome
Iris hypopigmentation, Ataxia, Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly ORPHA:381
Isolated Aniridia
Cataract, Peters anomaly, Aniridia ORPHA:250923
Immunodeficiency 105
Absence of lymph node germinal center, Hepatosplenomegaly OMIM:619924
Congenital Toxoplasmosis
Lymphadenopathy ORPHA:858
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Lymphadenopathy, Splenomegaly OMIM:618495
Cold Agglutinin Disease
Lymphadenopathy, Splenomegaly ORPHA:56425
Indolent Systemic Mastocytosis
Lymphadenopathy, Splenomegaly ORPHA:98848
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Lymphadenopathy, Splenomegaly OMIM:150550
Immunodeficiency 54
Lymphadenopathy, Splenomegaly OMIM:609981
Niemann-Pick Disease, Type A
Lymphadenopathy, Athetosis, Splenomegaly, Inability to walk OMIM:257200
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Lymphadenopathy, Splenomegaly OMIM:619375
Middle Ear Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100084
Medullary Thyroid Carcinoma
Lymphadenopathy, Dysphagia ORPHA:1332
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
Mevalonic Aciduria
Ataxia, Hepatosplenomegaly, Cataract, Lymphadenopathy, Nuclear cataract, Progressive cerebellar a... OMIM:610377
Ras-Associated Autoimmune Leukoproliferative Disorder
Follicular hyperplasia, Splenomegaly OMIM:614470
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormal lymph node morphology, Abnormality of the lymphatic system ORPHA:54251
Lymphoproliferative Syndrome 2
Lymphadenopathy, Splenomegaly, Hepatosplenomegaly OMIM:615122
Meige Disease
Absence of lymph node germinal center, Lymph node hypoplasia ORPHA:90186
Systemic-Onset Juvenile Idiopathic Arthritis
Lymphadenopathy, Splenomegaly ORPHA:85414
Immunodeficiency 7
Lymphadenopathy, Splenomegaly OMIM:615387
Anaplastic Thyroid Carcinoma
Lymphadenopathy, Dysphagia ORPHA:142
Cinca Syndrome
Lymphadenopathy, Hepatosplenomegaly OMIM:607115
Purine Nucleoside Phosphorylase Deficiency
Lymph node hypoplasia, Splenomegaly, Ataxia OMIM:613179
Combined Immunodeficiency Due To Zap70 Deficiency
Abnormal lymph node morphology, Lymphadenopathy, Lymphadenitis, Hepatosplenomegaly ORPHA:911
Rhabdoid Tumor
Lymphadenopathy ORPHA:69077
Acquired Hypertrichosis Lanuginosa
Lymphadenopathy ORPHA:2221
Cataract 39, Multiple Types
Anterior polar cataract, Lamellar cataract, Developmental cataract OMIM:615188
Roifman Syndrome
Lymphadenopathy, Splenomegaly OMIM:616651
Vitreoretinal Degeneration, Snowflake Type
Cataract, Corneal guttata OMIM:193230
Roifman Syndrome
Lymphadenopathy, Hepatosplenomegaly ORPHA:353298
Deafness-Lymphedema-Leukemia Syndrome
Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity ORPHA:3226
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphadenitis, Hepatosplenomegaly, Lymphadenopathy, Splenomegaly, Recurrent tonsillitis OMIM:618935
Leishmaniasis
Lymphadenopathy, Splenomegaly ORPHA:507
Autoimmune Lymphoproliferative Syndrome
Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Splenomegaly OMIM:601859
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Lymphadenopathy, Hepatosplenomegaly OMIM:619750
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Lymphadenopathy ORPHA:69126
Gamma-Heavy Chain Disease
Lymphadenopathy, Splenomegaly, Dysphagia ORPHA:100026
Squamous Cell Carcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424019
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Absent tonsils, Lymph node hypoplasia ORPHA:276
Desmoplastic Small Round Cell Tumor
Lymphadenopathy, Mediastinal lymphadenopathy ORPHA:83469
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hypoplasia of the iris, Lymphadenopathy, Splenomegaly ORPHA:169090
Boutonneuse Fever
Lymphadenopathy, Cervical lymphadenopathy ORPHA:83313
Cutaneous Mastocytoma
Lymphadenopathy ORPHA:79455
Autoimmune Lymphoproliferative Syndrome, Type Iia
Chronic noninfectious lymphadenopathy, Lymphadenopathy, Follicular hyperplasia, Splenomegaly OMIM:603909
Hypocomplementemic Urticarial Vasculitis
Conjunctivitis, Lymphadenopathy, Splenomegaly, Ataxia ORPHA:36412
Sézary Syndrome
Lymphadenopathy, Splenomegaly ORPHA:3162
Lymphoproliferative Syndrome, X-Linked, 1
Lymphadenopathy, Splenomegaly OMIM:308240
Proteasome-Associated Autoinflammatory Syndrome 4
Lymphadenopathy, Splenomegaly OMIM:619183
Pulmonary Non-Tuberculous Mycobacterial Infection
Lymphadenopathy ORPHA:411703
Cataract 31, Multiple Types
Posterior subcapsular cataract, Nuclear cataract, Anterior subcapsular cataract OMIM:605387
Hyperimmunoglobulinemia D With Periodic Fever
Lymphadenopathy, Ataxia ORPHA:343
Immunodeficiency 91 And Hyperinflammation
Lymphadenopathy, Hepatosplenomegaly OMIM:619644
Klatskin Tumor
Lymphadenopathy ORPHA:99978
Proteasome-Associated Autoinflammatory Syndrome 2
Lymphadenopathy OMIM:618048
Chediak-Higashi Syndrome
Ocular albinism, Iris hypopigmentation, Gait disturbance, Ataxia, Lymphadenopathy, Splenomegaly OMIM:214500
Cyclic Neutropenia
Recurrent tonsillitis, Lymphadenopathy, Cervical lymphadenopathy ORPHA:2686
American Trypanosomiasis
Lymphadenopathy, Splenomegaly ORPHA:3386
Scrub Typhus
Lymphadenopathy, Splenomegaly ORPHA:83317
Norrie Disease
Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior chamber, Cataract, Corneal opac... OMIM:310600
Cataract 15, Multiple Types
Cortical cataract, Lamellar cataract, Nuclear cataract OMIM:615274
Cataract 33, Multiple Types
Cortical cataract, Lamellar cataract, Nuclear cataract OMIM:611391
Legionnaires Disease
Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity, Ataxia ORPHA:549
Primary Myelofibrosis
Lymphadenopathy, Splenomegaly, Hepatosplenomegaly ORPHA:824
Melkersson-Rosenthal Syndrome
Lymphadenopathy ORPHA:2483
Immunodeficiency 97 With Autoinflammation
Lymphadenopathy, Splenomegaly, Mediastinal lymphadenopathy, Hepatosplenomegaly OMIM:619802
Periodic Fever, Familial, Autosomal Dominant
Conjunctivitis, Conjunctival hyperemia, Cervical lymphadenopathy OMIM:142680
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphadenopathy, Splenomegaly OMIM:616100
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Leukocoria, Posterior synechiae of the anterior chamber, Microcornea, Buphthalmos, Iris coloboma,... OMIM:221900
Diffuse Cutaneous Mastocytosis
Abnormality of the spleen, Lymphadenopathy ORPHA:79456
Aggressive Systemic Mastocytosis
Hypersplenism, Lymphadenopathy, Hepatosplenomegaly ORPHA:98850
Thymic Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Neoplasm of the thymus, Mediastinal lymphadenopathy ORPHA:97289
Castleman Disease
Lymphadenopathy, Follicular hyperplasia, Generalized lymphadenopathy, Mediastinal lymphadenopathy ORPHA:160
Omenn Syndrome
Lymphadenopathy, Splenomegaly ORPHA:39041
Felty Syndrome
Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity ORPHA:47612
Immunodeficiency 98 With Autoinflammation, X-Linked
Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity OMIM:301078
Lymphoproliferative Syndrome 1
Lymphadenopathy, Splenomegaly OMIM:613011
Cinca Syndrome
Lymphadenopathy, Splenomegaly ORPHA:1451
Omenn Syndrome
Lymphadenopathy, Hypoplasia of the thymus, Splenomegaly OMIM:603554
Hereditary Amyloidosis With Primary Renal Involvement
Abnormal lymph node morphology, Lymphadenopathy, Hepatosplenomegaly ORPHA:85450
Aniridia 1
Corneal erosion, Hypoplasia of the iris, Corneal neovascularization, Anterior subcapsular catarac... OMIM:106210
Mixed Connective Tissue Disease
Lymphadenopathy, Keratoconjunctivitis sicca, Splenomegaly, Mediastinal lymphadenopathy ORPHA:809
Pancreatoblastoma
Abnormal lymph node morphology ORPHA:677
Hemophagocytic Lymphohistiocytosis, Familial, 1
Lymphadenopathy, Splenomegaly, Ataxia OMIM:267700
Hemophagocytic Lymphohistiocytosis, Familial, 2
Lymphadenopathy, Splenomegaly, Ataxia, Hepatosplenomegaly OMIM:603553
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphadenopathy, Hepatosplenomegaly ORPHA:169154
Farber Disease
Abnormal conjunctiva morphology, Hepatosplenomegaly, Lymphadenopathy, Corneal opacity, Opacificat... ORPHA:333
Immunodeficiency, Common Variable, 8, With Autoimmunity
Conjunctivitis, Splenomegaly, Lymphadenopathy, Generalized lymphadenopathy OMIM:614700
Acute Promyelocytic Leukemia
Lymphadenopathy, Alcoholism ORPHA:520
Proteasome-Associated Autoinflammatory Syndrome 3
Conjunctivitis, Lymphadenopathy, Splenomegaly OMIM:617591
Macrophage Activation Syndrome
Lymphadenopathy, Splenomegaly ORPHA:158061
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Lymphadenopathy, Enlarged tonsils, Hepatosplenomegaly OMIM:606367
Immunodeficiency With Hyper-Igm, Type 1
Absence of lymph node germinal center, Enlarged tonsils, Splenomegaly OMIM:308230
Cutaneous Neuroendocrine Carcinoma
Chronic noninfectious lymphadenopathy ORPHA:79140
Lig4 Syndrome
Lymphadenopathy ORPHA:99812
Tangier Disease
Chronic noninfectious lymphadenopathy, Orange discolored tonsils, Corneal opacity, Hepatosplenome... ORPHA:31150
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Lymphadenitis, Generalized lymphadenopathy, Hepatosplenomegaly OMIM:618986
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Lymphadenopathy OMIM:304790
Familial Hemophagocytic Lymphohistiocytosis
Lymphadenopathy, Splenomegaly ORPHA:540
Kikuchi-Fujimoto Disease
Abnormal lymph node morphology, Generalized lymphadenopathy, Ataxia, Lymphadenopathy, Cervical ly... ORPHA:50918
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Lymphadenitis, Lymphadenopathy, Splenomegaly OMIM:615895
Acute Interstitial Pneumonia
Lymphadenopathy ORPHA:79126
Aregenerative Anemia
Lymphadenopathy, Bone marrow hypocellularity ORPHA:101096
Waldenström Macroglobulinemia
Lymphadenopathy, Splenomegaly, Ataxia ORPHA:33226
Hyper-Igd Syndrome
Lymphadenitis, Lymphadenopathy, Splenomegaly, Hepatosplenomegaly OMIM:260920
Agammaglobulinemia, X-Linked
Conjunctivitis, Lymph node hypoplasia OMIM:300755
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Lymphadenitis, Lymphadenopathy, Splenomegaly OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Lymphadenitis, Lymphadenopathy, Splenomegaly OMIM:233710
Chédiak-Higashi Syndrome
Inability to walk, Iris hypopigmentation, Gait disturbance, Ataxia, Hepatosplenomegaly, Lymphaden... ORPHA:167
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Lymphadenopathy OMIM:617099
Histiocytosis-Lymphadenopathy Plus Syndrome
Corneal arcus, Hepatosplenomegaly, Lymphadenopathy, Cervical lymphadenopathy, Splenomegaly OMIM:602782
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Lymphadenitis, Lymphadenopathy, Splenomegaly OMIM:233690
Pulmonary Capillary Hemangiomatosis
Lymphadenopathy, Mediastinal lymphadenopathy ORPHA:199241
Malt Lymphoma
Lymphadenopathy, Mediastinal lymphadenopathy ORPHA:52417
H Syndrome
Lymphadenopathy, Corneal arcus, Hepatosplenomegaly ORPHA:168569
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Agitation, Hepatosplenomegaly, Ataxia, Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly OMIM:615688
Pediatric Systemic Lupus Erythematosus
Lymphadenopathy ORPHA:93552
Graft Versus Host Disease
Lymphadenopathy, Hepatosplenomegaly ORPHA:39812
Carney Triad
Lymphadenopathy, Mediastinal lymphadenopathy ORPHA:139411
Drug Reaction With Eosinophilia And Systemic Symptoms
Lymphadenopathy ORPHA:139402
Lymphatic Filariasis
Lymphadenitis, Lymphangiectasis, Lymphadenopathy, Abnormality of the lymphatic system ORPHA:2035
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Absence of lymph node germinal center, Hepatosplenomegaly ORPHA:79124
Behçet Disease
Keratoconjunctivitis sicca, Gait disturbance, Ataxia, Cataract, Lymphadenopathy, Splenomegaly ORPHA:117
Familial Pancreatic Carcinoma
Lymphadenopathy, Hepatosplenomegaly ORPHA:1333
Selective Igm Deficiency
Lymphadenitis, Keratitis, Lymphadenopathy ORPHA:331235
Immunodeficiency 55
Lymphadenopathy OMIM:617827
Systemic Mastocytosis With Associated Hematologic Neoplasm
Lymphadenopathy, Splenomegaly ORPHA:98849
Poems Syndrome
Lymphadenopathy ORPHA:2905
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Polysplenia, Lymphadenopathy, Accessory spleen, Splenomegaly OMIM:619418
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphadenopathy, Cervical lymphadenopathy OMIM:617718
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Absent peripheral lymph nodes in presence of infection OMIM:600802
Thymic Aplasia
Lymphadenopathy, Aplasia of the thymus ORPHA:83471
Q Fever
Lymphadenopathy, Splenomegaly, Hepatosplenomegaly ORPHA:781
Granulomatous Disease, Chronic, X-Linked
Lymphadenitis, Lymphadenopathy, Splenomegaly OMIM:306400
Common Variable Immunodeficiency
Lymphadenopathy, Splenomegaly ORPHA:1572
Cherubism
Submandibular lymph node enlargement OMIM:118400
Spondyloenchondrodysplasia With Immune Dysregulation
Lymphadenopathy OMIM:607944
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Conjunctivitis, Lymphadenopathy, Splenomegaly ORPHA:32960
Hennekam Syndrome
Pulmonary lymphangiectasia, Lymphadenopathy, Splenomegaly, Lymphangioma ORPHA:2136
Autoimmune Lymphoproliferative Syndrome
Hypersplenism, Lymphadenopathy, Bone marrow hypocellularity, Chronic noninfectious lymphadenopath... ORPHA:3261
Multiple Myeloma
Lymphadenopathy, Splenomegaly ORPHA:29073
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Lymphadenopathy, Hepatosplenomegaly ORPHA:85408
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Lymphadenopathy, Splenomegaly ORPHA:37042
Adenocarcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424016
Lymphangioleiomyomatosis
Lymphadenopathy, Pulmonary lymphangiomyomatosis, Abnormality of the lymphatic system ORPHA:538
Immunodeficiency 31C
Lymphadenopathy, Splenomegaly OMIM:614162
X-Linked Lymphoproliferative Disease
Enlarged tonsils, Hepatosplenomegaly, Lymphadenopathy, Bone marrow hypocellularity, Cervical lymp... ORPHA:2442
Coccidioidomycosis
Abnormality of the spleen, Lymphadenopathy, Mediastinal lymphadenopathy ORPHA:228123
African Trypanosomiasis
Conjunctivitis, Akinesia, Iritis, Choreoathetosis, Gait disturbance, Hepatosplenomegaly, Lymphade... ORPHA:3385
Sarcoidosis
Abnormal lymph node morphology, Abnormal conjunctiva morphology, Keratoconjunctivitis sicca, Lymp... ORPHA:797
Ileal Neuroendocrine Tumor
Lymphadenopathy ORPHA:100078
Jejunal Neuroendocrine Tumor
Lymphadenopathy ORPHA:100077
Familial Mediterranean Fever
Lymphadenopathy, Splenomegaly ORPHA:342
Blau Syndrome
Keratitis, Cataract, Lymphadenopathy, Splenomegaly ORPHA:90340
Chikungunya
Lymphadenopathy, Cervical lymphadenopathy ORPHA:324625
Duodenal Neuroendocrine Tumor
Lymphadenopathy ORPHA:100076
Proteasome-Associated Autoinflammatory Syndrome 1
Conjunctivitis, Lymphadenopathy, Punctate opacification of the cornea, Splenomegaly OMIM:256040
Autosomal Recessive Malignant Osteopetrosis
Lymphadenopathy, Splenomegaly ORPHA:667
Crimean-Congo Hemorrhagic Fever
Conjunctivitis, Lymphadenopathy, Splenomegaly, Agitation ORPHA:99827
Primary Sjögren Syndrome
Corneal perforation, Lymphadenopathy, Keratoconjunctivitis sicca ORPHA:289390
Igg4-Related Ophthalmic Disease
Keratitis, Lymphadenopathy ORPHA:449563
Igg4-Related Submandibular Gland Disease
Lymphadenopathy ORPHA:449432
Igg4-Related Dacryoadenitis And Sialadenitis
Lymphadenopathy, Keratoconjunctivitis sicca ORPHA:79078
Brucellosis
Hypersplenism, Lymphadenopathy, Splenomegaly ORPHA:1304
Immunodeficiency 82 With Systemic Inflammation
Lymphadenopathy, Follicular hyperplasia, Splenomegaly OMIM:619381
Marburg Hemorrhagic Fever
Lymphadenopathy, Conjunctival hyperemia ORPHA:99826
Igg4-Related Kidney Disease
Lymphadenitis, Lymphadenopathy ORPHA:449395
Leptospirosis
Lymphadenopathy, Conjunctival hyperemia ORPHA:509
Cushing Syndrome Due To Ectopic Acth Secretion
Abnormal lymph node morphology, Neoplasm of the thymus ORPHA:99889

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.

Phenotype Allele Zygosity Sex Life Stage
Lymph node - MPATH pathological process term hyperplasia Rnpepl1em1(IMPC)Mbp HOM Early adult

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 Rnpepl1.

No publications found that use IMPC mice or data for Rnpepl1.

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MGI Allele Allele Type Produced
Rnpepl1em1(IMPC)Mbp Exon Deletion Mice, Tissue
Rnpepl1tm99124(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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