Gene Summary

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

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
enlarged lymph nodes Rnpepl1em1(IMPC)Mbp HOM Early adult 0.00
increased vertical activity Rnpepl1em1(IMPC)Mbp HOM Early adult 2.99×10-05
abnormal lymph node morphology Rnpepl1em1(IMPC)Mbp HOM Early adult 0.00
cataract Rnpepl1em1(IMPC)Mbp HOM Early adult 9.74×10-06

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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 Whole Body Dorso Ventral

30 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Histopathology

Images

4 Images

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
Axillary lymphadenopathy, Inguinal lymphadenopathy, Lymphadenopathy OMIM:616126
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Spinocerebellar Ataxia, Autosomal Recessive 24
Spastic gait, Cataract, Limb ataxia, Gait ataxia 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
Mantle Cell Lymphoma
Anorexia, Splenomegaly, Lymphadenopathy ORPHA:52416
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract, Splenomegaly OMIM:619813
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Follicular hyperplasia ORPHA:60026
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Corneal Dystrophy, Groenouw Type I
Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Dysequilibrium Syndrome
Cataract, Gait disturbance, Ataxia ORPHA:1766
Cataract 42
Cataract, Developmental cataract OMIM:115900
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Follicular hyperplasia, Lymphadenopathy OMIM:619126
Kerion Celsi
Lymphadenopathy ORPHA:499
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Trichomegaly
Cataract OMIM:190330
Cataract-Microcornea Syndrome
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy ORPHA:1377
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
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
Morm Syndrome
Cataract, Aggressive behavior, Hyperactivity ORPHA:75858
Cataract 9, Multiple Types
Cataract, Microcornea, Progressive cataract, Developmental cataract, Iris coloboma OMIM:604219
Kimura Disease
Follicular hyperplasia, Lymphadenopathy ORPHA:482
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Anorexia, Splenomegaly, Lymphadenopathy ORPHA:86893
Thanatophoric Dysplasia, Glasgow Variant
Cataract, Hepatosplenomegaly OMIM:273680
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro... OMIM:617319
Hypoalphalipoproteinemia, Primary, 2
Cataract, Corneal arcus OMIM:618463
Immunodeficiency 104
Splenomegaly, Lymphadenopathy OMIM:608971
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Oral-pharyngeal dysphagia, Anorexia ORPHA:100083
Megalocornea
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ... OMIM:309300
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Splenomegaly, Lymphadenopathy OMIM:618852
Cataract 11, Multiple Types
Cataract, Developmental cataract OMIM:610623
Fish-Eye Disease
Lymphadenopathy, Splenomegaly, Corneal opacity ORPHA:79292
Immunodeficiency 32A
Lymphadenitis, Lymphadenopathy OMIM:614893
Microphthalmia/Coloboma 3
Cataract, Iris coloboma OMIM:610092
Mast Cell Sarcoma
Mediastinal lymphadenopathy, Splenomegaly, Lymphadenopathy ORPHA:66661
Exfoliation Syndrome
Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Pigment depositio... OMIM:177650
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Splenomegaly, Lymphadenopathy ORPHA:444463
Follicular Lymphoma
Mediastinal lymphadenopathy, Splenomegaly, Lymphadenopathy ORPHA:545
Galactose Epimerase Deficiency
Cataract, Splenomegaly ORPHA:79238
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Lymphadenopathy OMIM:618261
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Phenylketonuria
Cataract, Self-mutilation, Aggressive behavior, Attention deficit hyperactivity disorder, Blue ir... OMIM:261600
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane OMIM:620253
Mevalonic Aciduria
Cataract, Splenomegaly, Ataxia ORPHA:29
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Aniridia, Microcornea OMIM:106230
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology ORPHA:97290
Cataract 10, Multiple Types
Posterior Y-sutural cataract, Developmental cataract, Nuclear cataract, Zonular cataract OMIM:600881
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy OMIM:608106
Familial Papillary Or Follicular Thyroid Carcinoma
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology ORPHA:319487
Cochleosaccular Degeneration-Cataract Syndrome
Cataract, Ataxia ORPHA:3233
Granulomatous Slack Skin
Abnormal lymph node morphology ORPHA:33111
Cataract 47
Cataract, Microcornea OMIM:612018
Classic Hodgkin Lymphoma
Bone marrow hypocellularity, Anorexia, Splenomegaly, Lymphadenopathy, Ataxia ORPHA:391
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Lymphadenopathy OMIM:615513
Cataract 1, Multiple Types
Microcornea, Nuclear cataract, Posterior subcapsular cataract, Pulverulent cataract OMIM:116200
Peroxisome Biogenesis Disorder 11B
Cataract, Hepatosplenomegaly OMIM:614885
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Lymphadenopathy OMIM:619220
Anterior Segment Dysgenesis 7
Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen... OMIM:269400
Immunodeficiency 27A
Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Anorexia, Enlarged mesenteric lymph node OMIM:209950
Hemophagocytic Lymphohistiocytosis, Familial, 4
Conjunctivitis, Lymphadenopathy, Splenomegaly OMIM:603552
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Hepatosplenomegaly, Lymphadenopathy OMIM:618982
Immunodeficiency 76
Splenomegaly, Lymphadenopathy OMIM:619164
Pleural Mesothelioma
Dysphagia, Lymphadenopathy ORPHA:50251
Alpha-Heavy Chain Disease
Splenomegaly, Lymphadenopathy ORPHA:100025
Aniridia 2
Lens subluxation, Cataract, Aniridia, Iris coloboma OMIM:617141
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center OMIM:606843
Mu-Heavy Chain Disease
Splenomegaly, Lymphadenopathy ORPHA:100024
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Rosaï-Dorfman Disease
Lymphadenopathy ORPHA:158014
Coats Disease
Cataract, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris ORPHA:190
Immunodeficiency, Common Variable, 2
Conjunctivitis, Follicular hyperplasia, Splenomegaly, Lymphadenopathy OMIM:240500
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:1067
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Aniridia-Intellectual Disability Syndrome
Cataract, Aniridia, Ectopia lentis ORPHA:1068
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Follicular hyperplasia, Lymphadenopathy OMIM:619846
Peters Anomaly
Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an... ORPHA:708
Burkitt Lymphoma
Abnormality of the spleen, Abnormal lymph node morphology ORPHA:543
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Ectopia pupillae, Iris transillumination defect, Persistent pupillary m... OMIM:225200
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy OMIM:300853
Immunodeficiency 64 With Lymphoproliferation
Cervical lymphadenopathy, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Mediastinal lymphade... OMIM:618534
Pfapa Syndrome
Splenomegaly, Lymphadenopathy ORPHA:42642
Autosomal Dominant Keratitis
Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul... ORPHA:2334
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy OMIM:618987
Cataract 3, Multiple Types
Developmental cataract, Sutural cataract, Nuclear pulverulent cataract, Cerulean cataract OMIM:601547
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hepatosplenomegaly, Splenomegaly, Lymphadenopathy OMIM:613101
Autoimmune Lymphoproliferative Syndrome, Type Iii
Hepatosplenomegaly, Splenomegaly, Follicular hyperplasia, Generalized lymphadenopathy, Lymphadeno... OMIM:615559
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea OMIM:619082
Immunodeficiency With Hyper-Igm, Type 4
Absence of lymph node germinal center OMIM:608184
Tularemia
Cervical lymphadenopathy, Abnormal nasopharyngeal adenoid morphology, Conjunctival hyperemia, Lym... ORPHA:3392
Anterior Segment Dysgenesis 2
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Ant... OMIM:610256
Amoebic Keratitis
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... ORPHA:67043
Cataract 5, Multiple Types
Nuclear cataract, Pulverulent cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract OMIM:116800
Caspase 8 Deficiency
Splenomegaly, Lymphadenopathy OMIM:607271
Nephroblastoma
Aniridia, Lymphadenopathy ORPHA:654
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Lymph node hypoplasia, Splenomegaly, Aplasia of the thymus, Generalized lymphadenopathy, Absent t... OMIM:602450
Immunodeficiency 103, Susceptibility To Fungal Infections
Lymphadenopathy OMIM:212050
Proximal Myotonic Myopathy
Cataract ORPHA:606
Leukocyte Adhesion Deficiency, Type Iii
Hepatosplenomegaly, Splenomegaly, Abnormal lymph node morphology OMIM:612840
Griscelli Syndrome Type 2
Iris hypopigmentation, Splenomegaly, Lymphadenopathy ORPHA:79477
Immunodeficiency 109 With Lymphoproliferation
Generalized lymphadenopathy, Splenomegaly OMIM:620282
Immune Dysregulation, Autoimmunity, And Autoinflammation
Cervical lymphadenopathy, Inguinal lymphadenopathy OMIM:620514
Immunodeficiency 52
Splenomegaly, Lymphadenopathy OMIM:617514
Familial Cold Autoinflammatory Syndrome 2
Splenomegaly, Lymphadenopathy OMIM:611762
Classic Mycosis Fungoides
Splenomegaly, Lymphadenopathy ORPHA:2584
Myopia 28, Autosomal Recessive
Cataract OMIM:619781
Thyroid Lymphoma
Dysphagia, Lymphadenopathy ORPHA:97285
Immunodeficiency, Common Variable, 1
Conjunctivitis, Lymphadenopathy, Splenomegaly OMIM:607594
Pseudomyxoma Peritonei
Lymphadenopathy ORPHA:26790
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, Absence of lymph node germinal center ORPHA:277
Activated Pi3K-Delta Syndrome
Splenomegaly, Recurrent tonsillitis, Lymphadenopathy ORPHA:397596
Schnitzler Syndrome
Splenomegaly, Lymphadenopathy ORPHA:37748
Isolated Aniridia
Cataract, Aniridia, Peters anomaly ORPHA:250923
Heme Oxygenase 1 Deficiency
Chemosis, Asplenia, Cervical lymphadenopathy, Lymphadenopathy OMIM:614034
Immunodeficiency 105
Hepatosplenomegaly, Absence of lymph node germinal center OMIM:619924
Griscelli Syndrome
Iris hypopigmentation, Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy, Ataxia ORPHA:381
Congenital Toxoplasmosis
Lymphadenopathy ORPHA:858
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Splenomegaly, Lymphadenopathy OMIM:618495
Indolent Systemic Mastocytosis
Splenomegaly, Lymphadenopathy ORPHA:98848
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Splenomegaly, Lymphadenopathy OMIM:150550
Leishmaniasis
Splenomegaly, Lymphadenopathy, Anorexia ORPHA:507
Cold Agglutinin Disease
Splenomegaly, Lymphadenopathy ORPHA:56425
Immunodeficiency 54
Splenomegaly, Lymphadenopathy OMIM:609981
Niemann-Pick Disease, Type A
Inability to walk, Splenomegaly, Athetosis, Lymphadenopathy OMIM:257200
Aniridia 3
Cataract, Aniridia OMIM:617142
Hyperferritinemia With Or Without Cataract
Cataract, Nuclear cataract, Anterior subcapsular cataract, Pulverulent cataract OMIM:600886
Middle Ear Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100084
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Splenomegaly, Lymphadenopathy OMIM:619375
Norrie Disease
Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Aggressive behavior, Leuko... OMIM:310600
Mevalonic Aciduria
Cataract, Nuclear cataract, Fluctuating splenomegaly, Hepatosplenomegaly, Lymphadenopathy, Ataxia... OMIM:610377
Ras-Associated Autoimmune Leukoproliferative Disorder
Splenomegaly, Follicular hyperplasia OMIM:614470
Immunodeficiency 7
Splenomegaly, Lymphadenopathy OMIM:615387
Lymphoproliferative Syndrome 2
Splenomegaly, Hepatosplenomegaly, Lymphadenopathy OMIM:615122
Medullary Thyroid Carcinoma
Dysphagia, Lymphadenopathy ORPHA:1332
Anaplastic Thyroid Carcinoma
Dysphagia, Lymphadenopathy ORPHA:142
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormality of the lymphatic system, Abnormal lymph node morphology ORPHA:54251
Primary Myelofibrosis
Splenomegaly, Hepatosplenomegaly, Lymphadenopathy, Anorexia ORPHA:824
Cinca Syndrome
Hepatosplenomegaly, Lymphadenopathy OMIM:607115
Combined Immunodeficiency Due To Zap70 Deficiency
Hepatosplenomegaly, Lymphadenitis, Lymphadenopathy, Abnormal lymph node morphology ORPHA:911
Cataract 39, Multiple Types
Lamellar cataract, Developmental cataract, Anterior polar cataract OMIM:615188
Roifman Syndrome
Splenomegaly, Lymphadenopathy OMIM:616651
Roifman Syndrome
Hepatosplenomegaly, Lymphadenopathy ORPHA:353298
Acquired Hypertrichosis Lanuginosa
Lymphadenopathy ORPHA:2221
Vitreoretinal Degeneration, Snowflake Type
Corneal guttata, Cataract OMIM:193230
Systemic-Onset Juvenile Idiopathic Arthritis
Splenomegaly, Lymphadenopathy ORPHA:85414
Rhabdoid Tumor
Lymphadenopathy ORPHA:69077
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly ORPHA:3226
Boutonneuse Fever
Cervical lymphadenopathy, Lymphadenopathy ORPHA:83313
Desmoplastic Small Round Cell Tumor
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:83469
Cataract 20, Multiple Types
Lamellar cataract, Nuclear cataract, Sutural cataract, Cortical cataract OMIM:116100
Papa Syndrome
Lymphadenopathy ORPHA:69126
Autoimmune Lymphoproliferative Syndrome, Type Iia
Splenomegaly, Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Lymphadenopathy OMIM:603909
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent tonsillitis, Lymphadenitis, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy OMIM:618935
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Hepatosplenomegaly, Lymphadenopathy OMIM:619750
Purine Nucleoside Phosphorylase Deficiency
Lymph node hypoplasia, Splenomegaly, Ataxia OMIM:613179
Autoimmune Lymphoproliferative Syndrome
Splenomegaly, Chronic noninfectious lymphadenopathy, Follicular hyperplasia OMIM:601859
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
Gamma-Heavy Chain Disease
Dysphagia, Splenomegaly, Lymphadenopathy ORPHA:100026
Hypocomplementemic Urticarial Vasculitis
Conjunctivitis, Lymphadenopathy, Splenomegaly, Ataxia ORPHA:36412
Pulmonary Non-Tuberculous Mycobacterial Infection
Lymphadenopathy ORPHA:411703
Combined Immunodeficiency Due To Crac Channel Dysfunction
Splenomegaly, Lymphadenopathy, Hypoplasia of the iris ORPHA:169090
Aggressive Systemic Mastocytosis
Anorexia, Hepatosplenomegaly, Lymphadenopathy, Hypersplenism ORPHA:98850
Immunodeficiency 10
Splenomegaly, Lymphadenopathy, Hypoplasia of the iris OMIM:612783
Sézary Syndrome
Splenomegaly, Lymphadenopathy ORPHA:3162
Cataract 31, Multiple Types
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract OMIM:605387
Proteasome-Associated Autoinflammatory Syndrome 4
Splenomegaly, Lymphadenopathy OMIM:619183
Legionnaires Disease
Bone marrow hypocellularity, Anorexia, Splenomegaly, Lymphadenopathy, Ataxia ORPHA:549
Lymphoproliferative Syndrome, X-Linked, 1
Splenomegaly, Lymphadenopathy OMIM:308240
Hyperimmunoglobulinemia D With Periodic Fever
Lymphadenopathy, Ataxia ORPHA:343
Immunodeficiency 91 And Hyperinflammation
Hepatosplenomegaly, Lymphadenopathy OMIM:619644
Scrub Typhus
Splenomegaly, Lymphadenopathy ORPHA:83317
American Trypanosomiasis
Splenomegaly, Lymphadenopathy ORPHA:3386
Proteasome-Associated Autoinflammatory Syndrome 2
Lymphadenopathy OMIM:618048
Cyclic Neutropenia
Cervical lymphadenopathy, Recurrent tonsillitis, Lymphadenopathy ORPHA:2686
Chediak-Higashi Syndrome
Iris hypopigmentation, Ocular albinism, Splenomegaly, Gait disturbance, Lymphadenopathy, Ataxia OMIM:214500
Klatskin Tumor
Lymphadenopathy ORPHA:99978
Pancreatoblastoma
Abnormal lymph node morphology ORPHA:677
Cataract 15, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:615274
Cataract 33, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:611391
Immunodeficiency 97 With Autoinflammation
Splenomegaly, Hepatosplenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy OMIM:619802
Periodic Fever, Familial, Autosomal Dominant
Conjunctival hyperemia, Conjunctivitis, Cervical lymphadenopathy OMIM:142680
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Persistent pupillary membrane... OMIM:221900
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
Melkersson-Rosenthal Syndrome
Lymphadenopathy ORPHA:2483
Thymic Neuroendocrine Tumor
Neoplasm of the thymus, Mediastinal lymphadenopathy, Chronic noninfectious lymphadenopathy ORPHA:97289
Diffuse Cutaneous Mastocytosis
Abnormality of the spleen, Lymphadenopathy ORPHA:79456
Castleman Disease
Generalized lymphadenopathy, Mediastinal lymphadenopathy, Follicular hyperplasia, Lymphadenopathy ORPHA:160
Aniridia 1
Cataract, Ectopia lentis, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Corneal neovascular... OMIM:106210
Acute Monoblastic/Monocytic Leukemia
Cervical lymphadenopathy, Anorexia ORPHA:514
Omenn Syndrome
Splenomegaly, Lymphadenopathy ORPHA:39041
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly OMIM:301078
Acute Promyelocytic Leukemia
Addictive alcohol use, Lymphadenopathy, Anorexia ORPHA:520
Cinca Syndrome
Splenomegaly, Lymphadenopathy ORPHA:1451
Hereditary Amyloidosis With Primary Renal Involvement
Hepatosplenomegaly, Lymphadenopathy, Abnormal lymph node morphology ORPHA:85450
Omenn Syndrome
Hypoplasia of the thymus, Splenomegaly, Lymphadenopathy OMIM:603554
Lymphoproliferative Syndrome 1
Splenomegaly, Lymphadenopathy OMIM:613011
Felty Syndrome
Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly ORPHA:47612
Mixed Connective Tissue Disease
Splenomegaly, Keratoconjunctivitis sicca, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:809
Immunodeficiency, Common Variable, 8, With Autoimmunity
Conjunctivitis, Generalized lymphadenopathy, Lymphadenopathy, Splenomegaly OMIM:614700
Tafro Syndrome
Hepatosplenomegaly, Splenomegaly, Lymphadenopathy ORPHA:457077
Hemophagocytic Lymphohistiocytosis, Familial, 1
Splenomegaly, Lymphadenopathy, Ataxia OMIM:267700
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Hepatosplenomegaly, Lymphadenopathy ORPHA:169154
Hemophagocytic Lymphohistiocytosis, Familial, 2
Splenomegaly, Hepatosplenomegaly, Lymphadenopathy, Ataxia OMIM:603553
Carney Triad
Mediastinal lymphadenopathy, Lymphadenopathy, Anorexia ORPHA:139411
Farber Disease
Hepatosplenomegaly, Lymphadenopathy, Corneal opacity, Opacification of the corneal stroma, Abnorm... ORPHA:333
Adult-Onset Still Disease
Bone marrow hypocellularity, Generalized lymphadenopathy, Lymphadenopathy, Splenomegaly ORPHA:829
Neuroendocrine Tumor Of The Colon
Chronic noninfectious lymphadenopathy, Anorexia ORPHA:100080
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Enlarged tonsils, Hepatosplenomegaly, Lymphadenopathy OMIM:606367
Proteasome-Associated Autoinflammatory Syndrome 3
Conjunctivitis, Lymphadenopathy, Splenomegaly OMIM:617591
Neuroblastoma
Antalgic gait, Lymphadenopathy, Ataxia ORPHA:635
Waldenström Macroglobulinemia
Ataxia, Splenomegaly, Lymphadenopathy, Anorexia ORPHA:33226
Macrophage Activation Syndrome
Splenomegaly, Lymphadenopathy ORPHA:158061
Immunodeficiency With Hyper-Igm, Type 1
Enlarged tonsils, Splenomegaly, Absence of lymph node germinal center OMIM:308230
Kikuchi-Fujimoto Disease
Ataxia, Abnormal lymph node morphology, Cervical lymphadenopathy, Splenomegaly, Generalized lymph... ORPHA:50918
Cutaneous Neuroendocrine Carcinoma
Chronic noninfectious lymphadenopathy ORPHA:79140
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Splenomegaly, Lymphadenopathy ORPHA:436159
Joint Contractures, Osteochondromas, And B-Cell Lymphoma
Generalized lymphadenopathy OMIM:620232
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Lymphadenopathy OMIM:304790
Lig4 Syndrome
Lymphadenopathy ORPHA:99812
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Hepatosplenomegaly, Generalized lymphadenopathy, Lymphadenitis OMIM:618986
Congenital Syphilis
Cataract, Hepatosplenomegaly, Keratitis, Lymphadenopathy ORPHA:499009
Familial Hemophagocytic Lymphohistiocytosis
Splenomegaly, Lymphadenopathy ORPHA:540
Acute Interstitial Pneumonia
Lymphadenopathy ORPHA:79126
Familial Pancreatic Carcinoma
Hepatosplenomegaly, Lymphadenopathy, Anorexia ORPHA:1333
Pulmonary Capillary Hemangiomatosis
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:199241
Agammaglobulinemia, X-Linked
Conjunctivitis, Lymph node hypoplasia OMIM:300755
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Splenomegaly, Lymphadenitis, Lymphadenopathy OMIM:615895
Aregenerative Anemia
Bone marrow hypocellularity, Lymphadenopathy ORPHA:101096
Tangier Disease
Hepatosplenomegaly, Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Corneal opa... ORPHA:31150
Neuroendocrine Tumor Of The Rectum
Chronic noninfectious lymphadenopathy, Anorexia ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Chronic noninfectious lymphadenopathy, Anorexia ORPHA:100082
Hyper-Igd Syndrome
Splenomegaly, Hepatosplenomegaly, Lymphadenitis, Lymphadenopathy OMIM:260920
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Splenomegaly, Lymphadenitis, Lymphadenopathy OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Splenomegaly, Lymphadenitis, Lymphadenopathy OMIM:233710
Acute Generalized Exanthematous Pustulosis
Conjunctivitis, Lymphadenopathy ORPHA:293173
Malt Lymphoma
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:52417
Histiocytosis-Lymphadenopathy Plus Syndrome
Cervical lymphadenopathy, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Corneal arcus OMIM:602782
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Lymphadenopathy OMIM:617099
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Splenomegaly, Lymphadenitis, Lymphadenopathy OMIM:233690
H Syndrome
Hepatosplenomegaly, Corneal arcus, Lymphadenopathy ORPHA:168569
Lymphatic Filariasis
Lymphadenitis, Lymphadenopathy, Lymphangiectasis, Abnormality of the lymphatic system ORPHA:2035
Drug Reaction With Eosinophilia And Systemic Symptoms
Lymphadenopathy ORPHA:139402
Chédiak-Higashi Syndrome
Iris hypopigmentation, Inability to walk, Hepatosplenomegaly, Splenomegaly, Gait disturbance, Lym... ORPHA:167
Pediatric Systemic Lupus Erythematosus
Lymphadenopathy ORPHA:93552
Gallbladder Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Anorexia ORPHA:100086
Graft Versus Host Disease
Hepatosplenomegaly, Lymphadenopathy ORPHA:39812
Q Fever
Splenomegaly, Hepatosplenomegaly, Lymphadenopathy, Anorexia ORPHA:781
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Bone marrow hypocellularity, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Ataxia, Agitation OMIM:615688
Behçet Disease
Cataract, Anorexia, Splenomegaly, Keratoconjunctivitis sicca, Gait disturbance, Lymphadenopathy, ... ORPHA:117
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatosplenomegaly, Absence of lymph node germinal center ORPHA:79124
Poems Syndrome
Splenomegaly, Lymphadenopathy ORPHA:2905
Selective Igm Deficiency
Lymphadenitis, Keratitis, Lymphadenopathy ORPHA:331235
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Cervical lymphadenopathy, Lymphadenopathy OMIM:617718
Systemic Mastocytosis With Associated Hematologic Neoplasm
Splenomegaly, Lymphadenopathy ORPHA:98849
Immunodeficiency 55
Lymphadenopathy OMIM:617827
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Splenomegaly, Lymphadenopathy, Polysplenia OMIM:619418
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Lymphadenopathy ORPHA:83471
Common Variable Immunodeficiency
Splenomegaly, Lymphadenopathy ORPHA:1572
Granulomatous Disease, Chronic, X-Linked
Splenomegaly, Lymphadenitis, Lymphadenopathy OMIM:306400
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Absent peripheral lymph nodes in presence of infection OMIM:600802
Cherubism
Submandibular lymph node enlargement OMIM:118400
Hennekam Syndrome
Splenomegaly, Lymphangioma, Lymphadenopathy, Pulmonary lymphangiectasia ORPHA:2136
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Splenomegaly, Lymphadenopathy ORPHA:37042
Multiple Myeloma
Splenomegaly, Lymphadenopathy ORPHA:29073
Spondyloenchondrodysplasia With Immune Dysregulation
Lymphadenopathy OMIM:607944
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Conjunctivitis, Lymphadenopathy, Splenomegaly ORPHA:32960
Immunodeficiency 31C
Splenomegaly, Lymphadenopathy OMIM:614162
Lymphangioleiomyomatosis
Pulmonary lymphangiomyomatosis, Lymphadenopathy, Abnormality of the lymphatic system ORPHA:538
Autoimmune Lymphoproliferative Syndrome
Bone marrow hypocellularity, Hypersplenism, Chronic noninfectious lymphadenopathy, Splenomegaly, ... ORPHA:3261
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Hepatosplenomegaly, Lymphadenopathy ORPHA:85408
African Trypanosomiasis
Keratitis, Difficulty walking, Hepatosplenomegaly, Akinesia, Splenomegaly, Aggressive behavior, G... ORPHA:3385
Coccidioidomycosis
Abnormality of the spleen, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:228123
Blau Syndrome
Cataract, Keratitis, Lymphadenopathy, Splenomegaly ORPHA:90340
Sarcoidosis
Cataract, Abnormal lymph node morphology, Keratoconjunctivitis sicca, Lymphadenopathy, Abnormal c... ORPHA:797
Adenocarcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424016
Ileal Neuroendocrine Tumor
Lymphadenopathy ORPHA:100078
Plague
Mydriasis, Lymphadenitis, Splenomegaly, Conjunctival hyperemia, Anorexia, Enlarged mesenteric lym... ORPHA:707
Immunodeficiency 82 With Systemic Inflammation
Anorexia, Splenomegaly, Follicular hyperplasia, Lymphadenopathy OMIM:619381
Familial Mediterranean Fever
Splenomegaly, Lymphadenopathy ORPHA:342
Brucellosis
Splenomegaly, Hypersplenism, Lymphadenopathy, Anorexia ORPHA:1304
Marburg Hemorrhagic Fever
Conjunctival hyperemia, Aggressive behavior, Lymphadenopathy, Anorexia ORPHA:99826
Chikungunya
Cervical lymphadenopathy, Lymphadenopathy ORPHA:324625
Proteasome-Associated Autoinflammatory Syndrome 1
Conjunctivitis, Punctate opacification of the cornea, Lymphadenopathy, Splenomegaly OMIM:256040
Crimean-Congo Hemorrhagic Fever
Splenomegaly, Lymphadenopathy, Anorexia, Conjunctivitis, Agitation ORPHA:99827
Primary Sjögren Syndrome
Corneal perforation, Keratoconjunctivitis sicca, Lymphadenopathy ORPHA:289390
Systemic Lupus Erythematosus
Lymphadenopathy, Anorexia ORPHA:536
Autosomal Recessive Malignant Osteopetrosis
Splenomegaly, Lymphadenopathy ORPHA:667
Igg4-Related Submandibular Gland Disease
Lymphadenopathy ORPHA:449432
Leptospirosis
Conjunctival hyperemia, Lymphadenopathy, Anorexia ORPHA:509
Igg4-Related Ophthalmic Disease
Keratitis, Lymphadenopathy ORPHA:449563
Igg4-Related Dacryoadenitis And Sialadenitis
Keratoconjunctivitis sicca, Lymphadenopathy ORPHA:79078
Igg4-Related Kidney Disease
Lymphadenitis, Lymphadenopathy ORPHA:449395
Cushing Syndrome Due To Ectopic Acth Secretion
Neoplasm of the thymus, Anorexia, Abnormal lymph node morphology 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.

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
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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