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

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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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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Histopathology

Images

4 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
Spastic gait, Gait ataxia, Limb ataxia, Cataract 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
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, Granular corneal dystrophy, Punctate corneal dystrophy, 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
Hepatosplenomegaly, Follicular hyperplasia, Lymphadenopathy OMIM:619126
Carcinoma Of Esophagus
Dysphagia, Lymphadenopathy ORPHA:70482
Trichomegaly
Cataract OMIM:190330
Cataract-Microcornea Syndrome
Cataract, Iris coloboma, Corneal dystrophy, Corneal opacity, Microcornea 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
Cataract, Iris coloboma, Developmental cataract, Progressive cataract, Microcornea OMIM:604219
Kimura Disease
Follicular hyperplasia, Lymphadenopathy ORPHA:482
Thanatophoric Dysplasia, Glasgow Variant
Hepatosplenomegaly, Cataract OMIM:273680
Megalocornea
Cataract, Megalocornea, Astigmatism, Iridodonesis, Mosaic corneal dystrophy, Decreased corneal th... 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
Cataract, Ectopia pupillae, Ectopia lentis, Iridodonesis, Microphakia, Persistent pupillary membr... OMIM:617319
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Lymphadenopathy, Splenomegaly OMIM:618852
Cataract 11, Multiple Types
Cataract, Developmental cataract OMIM:610623
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Fish-Eye Disease
Corneal opacity, Lymphadenopathy, Splenomegaly ORPHA:79292
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Mast Cell Sarcoma
Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly ORPHA:66661
Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly, Ataxia ORPHA:98293
Immunodeficiency 32A
Lymphadenopathy, Lymphadenitis OMIM:614893
Exfoliation Syndrome
Cataract, Mydriasis, Phakodonesis, Abnormal lens morphology, Iris hypoperfusion, Anisocoria, Pigm... 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
Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly ORPHA:545
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:86893
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Lymphadenopathy OMIM:618261
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Mevalonic Aciduria
Cataract, Splenomegaly, Ataxia ORPHA:29
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane OMIM:620253
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Aniridia, Microcornea OMIM:106230
Cataract 10, Multiple Types
Zonular cataract, Nuclear cataract, Posterior Y-sutural cataract, Developmental cataract OMIM:600881
Cochleosaccular Degeneration-Cataract Syndrome
Cataract, Ataxia ORPHA:3233
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology ORPHA:97290
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy OMIM:608106
Granulomatous Slack Skin
Abnormal lymph node morphology ORPHA:33111
Familial Papillary Or Follicular Thyroid Carcinoma
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology ORPHA:319487
Cataract 47
Cataract, Microcornea OMIM:612018
Cataract 1, Multiple Types
Nuclear cataract, Pulverulent cataract, Microcornea, Posterior subcapsular cataract OMIM:116200
Immunodeficiency, Common Variable, 2
Follicular hyperplasia, Conjunctivitis, Lymphadenopathy, Splenomegaly OMIM:240500
Peroxisome Biogenesis Disorder 11B
Hepatosplenomegaly, Cataract OMIM:614885
Anterior Segment Dysgenesis 7
Cataract, Iris coloboma, Buphthalmos, Anterior synechiae of the anterior chamber, Sclerocornea, C... OMIM:269400
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Lymphadenopathy, Splenomegaly OMIM:615513
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Immunodeficiency 76
Lymphadenopathy, Splenomegaly OMIM:619164
Hemophagocytic Lymphohistiocytosis, Familial, 4
Conjunctivitis, Lymphadenopathy, Splenomegaly OMIM:603552
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Lymphadenopathy OMIM:619220
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Hepatosplenomegaly, Lymphadenopathy OMIM:618982
Coats Disease
Cataract, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris ORPHA:190
Aniridia 2
Cataract, Lens subluxation, Aniridia, Iris coloboma OMIM:617141
Mu-Heavy Chain Disease
Lymphadenopathy, Splenomegaly ORPHA:100024
Rosaï-Dorfman Disease
Lymphadenopathy ORPHA:158014
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Corneal opacity, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris ORPHA:1067
Generalized Eruptive Histiocytosis
Lymphadenopathy ORPHA:157991
Pleural Mesothelioma
Dysphagia, Lymphadenopathy ORPHA:50251
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center OMIM:606843
Aniridia-Intellectual Disability Syndrome
Cataract, Ectopia lentis, Aniridia ORPHA:1068
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Follicular hyperplasia, Lymphadenopathy OMIM:619846
Burkitt Lymphoma
Abnormal lymph node morphology, Abnormality of the spleen ORPHA:543
Ectopia Lentis Et Pupillae
Cataract, Ectopia pupillae, Ectopia lentis, Persistent pupillary membrane, Iris transillumination... OMIM:225200
Alpha-Heavy Chain Disease
Lymphadenopathy, Splenomegaly ORPHA:100025
Peters Anomaly
Subcapsular cataract, Thinning of Descemet membrane, Anterior synechiae of the anterior chamber, ... ORPHA:708
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly OMIM:300853
Immunodeficiency 52
Lymphadenopathy, Splenomegaly OMIM:617514
Classic Hodgkin Lymphoma
Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly, Ataxia ORPHA:391
Immunodeficiency 64 With Lymphoproliferation
Hepatosplenomegaly, Cervical lymphadenopathy, Lymphadenopathy, Mediastinal lymphadenopathy, Splen... OMIM:618534
Autosomal Dominant Keratitis
Cataract, Hypoplastic iris stroma, Limbal stem cell deficiency, Abnormal corneal limbus morpholog... ORPHA:2334
Cataract 3, Multiple Types
Cerulean cataract, Sutural cataract, Developmental cataract, Nuclear pulverulent cataract OMIM:601547
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy OMIM:618987
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hepatosplenomegaly, Lymphadenopathy, Splenomegaly 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
Hepatosplenomegaly, Generalized lymphadenopathy, Follicular hyperplasia, Lymphadenopathy, Mediast... OMIM:615559
Immunodeficiency With Hyper-Igm, Type 4
Absence of lymph node germinal center OMIM:608184
Anterior Segment Dysgenesis 2
Cataract, Congenital aphakia, Anterior segment of eye aplasia, Posterior synechiae of the anterio... OMIM:610256
Tularemia
Cervical lymphadenopathy, Abnormal nasopharyngeal adenoid morphology, Conjunctival hyperemia, Lym... ORPHA:3392
Cataract 5, Multiple Types
Zonular cataract, Pulverulent cataract, Lamellar cataract, Anterior polar cataract, Nuclear cataract OMIM:116800
Amoebic Keratitis
Cataract, Corneal perforation, Corneal ulceration, Abnormal corneal epithelium morphology, Puncta... ORPHA:67043
Immunodeficiency 27A
Hepatosplenomegaly, Enlarged mesenteric lymph node, Lymphadenopathy, Splenomegaly OMIM:209950
Nephroblastoma
Aniridia, Lymphadenopathy ORPHA:654
Immunodeficiency 103, Susceptibility To Fungal Infections
Lymphadenopathy OMIM:212050
Immunodeficiency 10
Hypoplasia of the iris, Lymphadenopathy OMIM:612783
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Generalized lymphadenopathy, Absent tonsils, Splenomegaly, Lymph node hypoplasia, Aplasia of the ... OMIM:602450
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Leukocyte Adhesion Deficiency, Type Iii
Hepatosplenomegaly, Abnormal lymph node morphology, Splenomegaly OMIM:612840
Proximal Myotonic Myopathy
Cataract ORPHA:606
Caspase 8 Deficiency
Lymphadenopathy, Splenomegaly OMIM:607271
Immunodeficiency, Common Variable, 1
Conjunctivitis, Lymphadenopathy, Splenomegaly OMIM:607594
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Splenomegaly OMIM:611762
Classic Mycosis Fungoides
Lymphadenopathy, Splenomegaly ORPHA:2584
Thyroid Lymphoma
Dysphagia, Lymphadenopathy ORPHA:97285
Myopia 28, Autosomal Recessive
Cataract OMIM:619781
Cataract 20, Multiple Types
Membranous cataract, Cortical cataract, Sutural cataract, Lamellar cataract OMIM:116100
Pseudomyxoma Peritonei
Lymphadenopathy ORPHA:26790
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absence of lymph node germinal center, Absent tonsils ORPHA:277
Schnitzler Syndrome
Lymphadenopathy, Splenomegaly ORPHA:37748
Griscelli Syndrome Type 2
Iris hypopigmentation, Lymphadenopathy, Splenomegaly ORPHA:79477
Heme Oxygenase 1 Deficiency
Lymphadenopathy, Cervical lymphadenopathy, Asplenia, Chemosis OMIM:614034
Griscelli Syndrome
Iris hypopigmentation, Ataxia, Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly ORPHA:381
Isolated Aniridia
Cataract, Aniridia, Peters anomaly ORPHA:250923
Immunodeficiency 105
Hepatosplenomegaly, Absence of lymph node germinal center OMIM:619924
Congenital Toxoplasmosis
Lymphadenopathy ORPHA:858
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Lymphadenopathy, Splenomegaly OMIM:618495
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Lymphadenopathy, Splenomegaly OMIM:150550
Cold Agglutinin Disease
Lymphadenopathy, Splenomegaly ORPHA:56425
Indolent Systemic Mastocytosis
Lymphadenopathy, Splenomegaly ORPHA:98848
Immunodeficiency 54
Lymphadenopathy, Splenomegaly OMIM:609981
Niemann-Pick Disease, Type A
Inability to walk, Lymphadenopathy, Splenomegaly, Athetosis OMIM:257200
Aniridia 3
Cataract, Aniridia OMIM:617142
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Lymphadenopathy, Splenomegaly OMIM:619375
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
Middle Ear Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100084
Medullary Thyroid Carcinoma
Dysphagia, Lymphadenopathy ORPHA:1332
Mevalonic Aciduria
Hepatosplenomegaly, Cataract, Progressive cerebellar ataxia, Ataxia, Lymphadenopathy, Nuclear cat... OMIM:610377
Ras-Associated Autoimmune Leukoproliferative Disorder
Follicular hyperplasia, Splenomegaly OMIM:614470
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormality of the lymphatic system, Abnormal lymph node morphology ORPHA:54251
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Lymphoproliferative Syndrome 2
Hepatosplenomegaly, Lymphadenopathy, Splenomegaly OMIM:615122
Systemic-Onset Juvenile Idiopathic Arthritis
Lymphadenopathy, Splenomegaly ORPHA:85414
Immunodeficiency 7
Lymphadenopathy, Splenomegaly OMIM:615387
Anaplastic Thyroid Carcinoma
Dysphagia, Lymphadenopathy ORPHA:142
Purine Nucleoside Phosphorylase Deficiency
Lymph node hypoplasia, Splenomegaly, Ataxia OMIM:613179
Cinca Syndrome
Hepatosplenomegaly, Lymphadenopathy OMIM:607115
Combined Immunodeficiency Due To Zap70 Deficiency
Hepatosplenomegaly, Lymphadenopathy, Abnormal lymph node morphology, Lymphadenitis ORPHA:911
Rhabdoid Tumor
Lymphadenopathy ORPHA:69077
Acquired Hypertrichosis Lanuginosa
Lymphadenopathy ORPHA:2221
Cataract 39, Multiple Types
Developmental cataract, Anterior polar cataract, Lamellar cataract OMIM:615188
Vitreoretinal Degeneration, Snowflake Type
Cataract, Corneal guttata OMIM:193230
Roifman Syndrome
Lymphadenopathy, Splenomegaly OMIM:616651
Roifman Syndrome
Hepatosplenomegaly, Lymphadenopathy ORPHA:353298
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly ORPHA:3226
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hepatosplenomegaly, Recurrent tonsillitis, Lymphadenitis, Lymphadenopathy, Splenomegaly OMIM:618935
Gamma-Heavy Chain Disease
Dysphagia, Lymphadenopathy, Splenomegaly ORPHA:100026
Leishmaniasis
Lymphadenopathy, Splenomegaly ORPHA:507
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Hepatosplenomegaly, Lymphadenopathy OMIM:619750
Autoimmune Lymphoproliferative Syndrome
Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Splenomegaly OMIM:601859
Squamous Cell Carcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424019
Papa Syndrome
Lymphadenopathy ORPHA:69126
Desmoplastic Small Round Cell Tumor
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:83469
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymph node hypoplasia, Absent tonsils ORPHA:276
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hypoplasia of the iris, Lymphadenopathy, Splenomegaly ORPHA:169090
Cutaneous Mastocytoma
Lymphadenopathy ORPHA:79455
Boutonneuse Fever
Lymphadenopathy, Cervical lymphadenopathy ORPHA:83313
Autoimmune Lymphoproliferative Syndrome, Type Iia
Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Lymphadenopathy, Splenomegaly OMIM:603909
Hypocomplementemic Urticarial Vasculitis
Conjunctivitis, Lymphadenopathy, Splenomegaly, Ataxia ORPHA:36412
Proteasome-Associated Autoinflammatory Syndrome 4
Lymphadenopathy, Splenomegaly OMIM:619183
Lymphoproliferative Syndrome, X-Linked, 1
Lymphadenopathy, Splenomegaly OMIM:308240
Sézary Syndrome
Lymphadenopathy, Splenomegaly ORPHA:3162
Pulmonary Non-Tuberculous Mycobacterial Infection
Lymphadenopathy ORPHA:411703
Cataract 31, Multiple Types
Nuclear cataract, Anterior subcapsular cataract, Posterior subcapsular cataract OMIM:605387
Hyperimmunoglobulinemia D With Periodic Fever
Lymphadenopathy, Ataxia ORPHA:343
Immunodeficiency 91 And Hyperinflammation
Hepatosplenomegaly, Lymphadenopathy OMIM:619644
Klatskin Tumor
Lymphadenopathy ORPHA:99978
Proteasome-Associated Autoinflammatory Syndrome 2
Lymphadenopathy OMIM:618048
Chediak-Higashi Syndrome
Iris hypopigmentation, Gait disturbance, Ataxia, Ocular albinism, 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
Cataract, Buphthalmos, Shallow anterior chamber, Hypoplasia of the iris, Corneal opacity, Opacifi... OMIM:310600
Cataract 15, Multiple Types
Nuclear cataract, Cortical cataract, Lamellar cataract OMIM:615274
Cataract 33, Multiple Types
Nuclear cataract, Cortical cataract, Lamellar cataract OMIM:611391
Melkersson-Rosenthal Syndrome
Lymphadenopathy ORPHA:2483
Legionnaires Disease
Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly, Ataxia ORPHA:549
Primary Myelofibrosis
Hepatosplenomegaly, Lymphadenopathy, Splenomegaly ORPHA:824
Immunodeficiency 97 With Autoinflammation
Hepatosplenomegaly, Lymphadenopathy, Splenomegaly, Mediastinal lymphadenopathy OMIM:619802
Periodic Fever, Familial, Autosomal Dominant
Conjunctival hyperemia, Conjunctivitis, Cervical lymphadenopathy OMIM:142680
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphadenopathy, Splenomegaly OMIM:616100
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Iris coloboma, Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Po... OMIM:221900
Aggressive Systemic Mastocytosis
Hepatosplenomegaly, Hypersplenism, Lymphadenopathy ORPHA:98850
Diffuse Cutaneous Mastocytosis
Lymphadenopathy, Abnormality of the spleen ORPHA:79456
Thymic Neuroendocrine Tumor
Mediastinal lymphadenopathy, Neoplasm of the thymus, Chronic noninfectious lymphadenopathy ORPHA:97289
Lymphoproliferative Syndrome 1
Lymphadenopathy, Splenomegaly OMIM:613011
Castleman Disease
Mediastinal lymphadenopathy, Follicular hyperplasia, Generalized lymphadenopathy, Lymphadenopathy ORPHA:160
Omenn Syndrome
Lymphadenopathy, Splenomegaly ORPHA:39041
Felty Syndrome
Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly ORPHA:47612
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly OMIM:301078
Cinca Syndrome
Lymphadenopathy, Splenomegaly ORPHA:1451
Omenn Syndrome
Hypoplasia of the thymus, Lymphadenopathy, Splenomegaly OMIM:603554
Hereditary Amyloidosis With Primary Renal Involvement
Hepatosplenomegaly, Abnormal lymph node morphology, Lymphadenopathy ORPHA:85450
Aniridia 1
Cataract, Ectopia pupillae, Ectopia lentis, Corneal erosion, Anterior subcapsular cataract, Hypop... OMIM:106210
Mixed Connective Tissue Disease
Mediastinal lymphadenopathy, Keratoconjunctivitis sicca, Lymphadenopathy, Splenomegaly ORPHA:809
Pancreatoblastoma
Abnormal lymph node morphology ORPHA:677
Hemophagocytic Lymphohistiocytosis, Familial, 1
Lymphadenopathy, Splenomegaly, Ataxia OMIM:267700
Farber Disease
Hepatosplenomegaly, Abnormal conjunctiva morphology, Lymphadenopathy, Corneal opacity, Opacificat... ORPHA:333
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hepatosplenomegaly, Lymphadenopathy, Splenomegaly, Ataxia OMIM:603553
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Hepatosplenomegaly, Lymphadenopathy ORPHA:169154
Acute Promyelocytic Leukemia
Alcoholism, Lymphadenopathy ORPHA:520
Immunodeficiency, Common Variable, 8, With Autoimmunity
Generalized lymphadenopathy, Conjunctivitis, Lymphadenopathy, Splenomegaly OMIM:614700
Proteasome-Associated Autoinflammatory Syndrome 3
Conjunctivitis, Lymphadenopathy, Splenomegaly OMIM:617591
Macrophage Activation Syndrome
Lymphadenopathy, Splenomegaly ORPHA:158061
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hepatosplenomegaly, Lymphadenopathy, Enlarged tonsils OMIM:606367
Immunodeficiency With Hyper-Igm, Type 1
Enlarged tonsils, Splenomegaly, Absence of lymph node germinal center OMIM:308230
Joint Contractures, Osteochondromas, And B-Cell Lymphoma
Generalized lymphadenopathy OMIM:620232
Cutaneous Neuroendocrine Carcinoma
Chronic noninfectious lymphadenopathy ORPHA:79140
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Lymphadenopathy OMIM:304790
Lig4 Syndrome
Lymphadenopathy ORPHA:99812
Tangier Disease
Hepatosplenomegaly, Corneal opacity, Orange discolored tonsils, Chronic noninfectious lymphadenop... ORPHA:31150
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Hepatosplenomegaly, Generalized lymphadenopathy, Lymphadenitis OMIM:618986
Familial Hemophagocytic Lymphohistiocytosis
Lymphadenopathy, Splenomegaly ORPHA:540
Kikuchi-Fujimoto Disease
Generalized lymphadenopathy, Cervical lymphadenopathy, Ataxia, Abnormal lymph node morphology, Ly... ORPHA:50918
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Lymphadenopathy, Lymphadenitis, Splenomegaly OMIM:615895
Acute Interstitial Pneumonia
Lymphadenopathy ORPHA:79126
Aregenerative Anemia
Bone marrow hypocellularity, Lymphadenopathy ORPHA:101096
Waldenström Macroglobulinemia
Lymphadenopathy, Splenomegaly, Ataxia ORPHA:33226
Agammaglobulinemia, X-Linked
Lymph node hypoplasia, Conjunctivitis OMIM:300755
Hyper-Igd Syndrome
Hepatosplenomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly OMIM:260920
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Lymphadenopathy, Lymphadenitis, Splenomegaly OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Lymphadenopathy, Lymphadenitis, Splenomegaly OMIM:233710
Chédiak-Higashi Syndrome
Hepatosplenomegaly, Iris hypopigmentation, Inability to walk, Gait disturbance, Ataxia, Lymphaden... ORPHA:167
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Lymphadenopathy OMIM:617099
Pulmonary Capillary Hemangiomatosis
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:199241
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatosplenomegaly, Cervical lymphadenopathy, Corneal arcus, Lymphadenopathy, Splenomegaly OMIM:602782
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Lymphadenopathy, Lymphadenitis, Splenomegaly OMIM:233690
Malt Lymphoma
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:52417
H Syndrome
Hepatosplenomegaly, Corneal arcus, Lymphadenopathy ORPHA:168569
Graft Versus Host Disease
Hepatosplenomegaly, Lymphadenopathy ORPHA:39812
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatosplenomegaly, Ataxia, Agitation, Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly OMIM:615688
Pediatric Systemic Lupus Erythematosus
Lymphadenopathy ORPHA:93552
Carney Triad
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:139411
Drug Reaction With Eosinophilia And Systemic Symptoms
Lymphadenopathy ORPHA:139402
Lymphatic Filariasis
Lymphadenopathy, Lymphadenitis, Abnormality of the lymphatic system, Lymphangiectasis ORPHA:2035
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatosplenomegaly, Absence of lymph node germinal center ORPHA:79124
Behçet Disease
Cataract, Gait disturbance, Ataxia, Keratoconjunctivitis sicca, Lymphadenopathy, Splenomegaly ORPHA:117
Familial Pancreatic Carcinoma
Hepatosplenomegaly, Lymphadenopathy ORPHA:1333
Selective Igm Deficiency
Lymphadenopathy, Keratitis, Lymphadenitis ORPHA:331235
Immunodeficiency 55
Lymphadenopathy OMIM:617827
Systemic Mastocytosis With Associated Hematologic Neoplasm
Lymphadenopathy, Splenomegaly ORPHA:98849
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Lymphadenopathy, Splenomegaly, Polysplenia OMIM:619418
Poems Syndrome
Lymphadenopathy ORPHA:2905
T-Cell Immunodeficiency With Thymic Aplasia
Lymphadenopathy, Aplasia of the thymus ORPHA:83471
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
Q Fever
Hepatosplenomegaly, Lymphadenopathy, Splenomegaly ORPHA:781
Granulomatous Disease, Chronic, X-Linked
Lymphadenopathy, Lymphadenitis, Splenomegaly OMIM:306400
Common Variable Immunodeficiency
Lymphadenopathy, Splenomegaly ORPHA:1572
Cherubism
Submandibular lymph node enlargement OMIM:118400
Multiple Myeloma
Lymphadenopathy, Splenomegaly ORPHA:29073
Hennekam Syndrome
Pulmonary lymphangiectasia, Lymphadenopathy, Splenomegaly, Lymphangioma ORPHA:2136
Spondyloenchondrodysplasia With Immune Dysregulation
Lymphadenopathy OMIM:607944
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Conjunctivitis, Lymphadenopathy, Splenomegaly ORPHA:32960
Autoimmune Lymphoproliferative Syndrome
Bone marrow hypocellularity, Chronic noninfectious lymphadenopathy, Hypersplenism, Lymphadenopath... ORPHA:3261
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Hepatosplenomegaly, Lymphadenopathy ORPHA:85408
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Lymphadenopathy, Splenomegaly ORPHA:37042
Adenocarcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424016
Lymphangioleiomyomatosis
Abnormality of the lymphatic system, Pulmonary lymphangiomyomatosis, Lymphadenopathy ORPHA:538
Immunodeficiency 31C
Lymphadenopathy, Splenomegaly OMIM:614162
X-Linked Lymphoproliferative Disease
Hepatosplenomegaly, Cervical lymphadenopathy, Bone marrow hypocellularity, Lymphadenopathy, Enlar... ORPHA:2442
Coccidioidomycosis
Mediastinal lymphadenopathy, Lymphadenopathy, Abnormality of the spleen ORPHA:228123
African Trypanosomiasis
Hepatosplenomegaly, Keratitis, Gait disturbance, Difficulty walking, Choreoathetosis, Iritis, Lym... ORPHA:3385
Sarcoidosis
Cataract, Keratoconjunctivitis sicca, Abnormal conjunctiva morphology, Abnormal lymph node morpho... ORPHA:797
Ileal Neuroendocrine Tumor
Lymphadenopathy ORPHA:100078
Jejunal Neuroendocrine Tumor
Lymphadenopathy ORPHA:100077
Familial Mediterranean Fever
Lymphadenopathy, Splenomegaly ORPHA:342
Blau Syndrome
Cataract, Keratitis, Lymphadenopathy, Splenomegaly ORPHA:90340
Chikungunya
Lymphadenopathy, Cervical lymphadenopathy ORPHA:324625
Duodenal Neuroendocrine Tumor
Lymphadenopathy ORPHA:100076
Proteasome-Associated Autoinflammatory Syndrome 1
Punctate opacification of the cornea, Lymphadenopathy, Splenomegaly, Conjunctivitis 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, Keratoconjunctivitis sicca, Lymphadenopathy ORPHA:289390
Igg4-Related Ophthalmic Disease
Keratitis, Lymphadenopathy ORPHA:449563
Igg4-Related Submandibular Gland Disease
Lymphadenopathy ORPHA:449432
Igg4-Related Dacryoadenitis And Sialadenitis
Keratoconjunctivitis sicca, Lymphadenopathy ORPHA:79078
Brucellosis
Hypersplenism, Lymphadenopathy, Splenomegaly ORPHA:1304
Immunodeficiency 82 With Systemic Inflammation
Follicular hyperplasia, Lymphadenopathy, Splenomegaly OMIM:619381
Marburg Hemorrhagic Fever
Conjunctival hyperemia, Lymphadenopathy ORPHA:99826
Igg4-Related Kidney Disease
Lymphadenopathy, Lymphadenitis ORPHA:449395
Leptospirosis
Conjunctival hyperemia, Lymphadenopathy 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.

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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