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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
enlarged lymph nodes Rnpepl1em1(IMPC)Mbp HOM Early adult 0.00
abnormal lymph node morphology Rnpepl1em1(IMPC)Mbp HOM Early adult 0.00
increased vertical activity Rnpepl1em1(IMPC)Mbp HOM Early adult 2.71×10-05
cataract Rnpepl1em1(IMPC)Mbp HOM Early adult 7.44×10-05

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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 Lateral Orientation

10 Images

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Histopathology

Images

4 Images

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X-ray

XRay Images Whole Body Dorso Ventral

30 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
Cataract, Spastic gait, 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
Splenomegaly, Anorexia, Lymphadenopathy ORPHA:52416
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
Splenomegaly, Cataract 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
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Dysequilibrium Syndrome
Cataract, Ataxia, Gait disturbance ORPHA:1766
Cataract 42
Cataract, Developmental cataract OMIM:115900
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Lymphadenopathy, Follicular hyperplasia OMIM:619126
Kerion Celsi
Lymphadenopathy ORPHA:499
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Trichomegaly
Cataract OMIM:190330
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Conjunctivitis, Lymphadenopathy OMIM:617772
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Cataract 9, Multiple Types
Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma OMIM:604219
Kimura Disease
Lymphadenopathy, Follicular hyperplasia ORPHA:482
Thanatophoric Dysplasia, Glasgow Variant
Cataract, Hepatosplenomegaly OMIM:273680
Megalocornea
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... OMIM:309300
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Anorexia, Lymphadenopathy ORPHA:86893
Galactosemia Iv
Cataract OMIM:618881
Hypoalphalipoproteinemia, Primary, 2
Corneal arcus, Cataract OMIM:618463
Immunodeficiency 104
Splenomegaly, Lymphadenopathy OMIM:608971
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Anorexia, Oral-pharyngeal dysphagia ORPHA:100083
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... OMIM:617319
Autoinflammation With Episodic Fever And Lymphadenopathy
Splenomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Cataract 11, Multiple Types
Cataract, Developmental cataract OMIM:610623
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Fish-Eye Disease
Splenomegaly, Corneal opacity, Lymphadenopathy ORPHA:79292
Morm Syndrome
Hyperactivity, Cataract, Aggressive behavior ORPHA:75858
Immunodeficiency 32A
Lymphadenitis, Lymphadenopathy OMIM:614893
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Mast Cell Sarcoma
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:66661
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... OMIM:177650
Pellagra-Like Syndrome
Cataract, Ataxia OMIM:260650
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Phenylketonuria
Hyperactivity, Cataract, Aggressive behavior, Blue irides, Attention deficit hyperactivity disord... OMIM:261600
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Splenomegaly, Lymphadenopathy ORPHA:444463
Galactose Epimerase Deficiency
Splenomegaly, Cataract ORPHA:79238
Follicular Lymphoma
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:545
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Lymphadenopathy OMIM:618261
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Mevalonic Aciduria
Splenomegaly, Cataract, Ataxia ORPHA:29
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane OMIM:620253
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Cataract 10, Multiple Types
Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract OMIM:600881
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy OMIM:608106
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
Cataract 47
Microcornea, Cataract OMIM:612018
Granulomatous Slack Skin
Abnormal lymph node morphology ORPHA:33111
Familial Papillary Or Follicular Thyroid Carcinoma
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology ORPHA:319487
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Lymphadenopathy OMIM:615513
Immunodeficiency, Common Variable, 2
Splenomegaly, Follicular hyperplasia, Conjunctivitis, Lymphadenopathy OMIM:240500
Peroxisome Biogenesis Disorder 11B
Cataract, Hepatosplenomegaly OMIM:614885
Cataract 1, Multiple Types
Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract OMIM:116200
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Lymphadenopathy, Fluctuating splenomegaly OMIM:619220
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Hemophagocytic Lymphohistiocytosis, Familial, 4
Splenomegaly, Conjunctivitis, Lymphadenopathy OMIM:603552
Immunodeficiency 76
Splenomegaly, Lymphadenopathy OMIM:619164
Classic Hodgkin Lymphoma
Ataxia, Anorexia, Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity ORPHA:391
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Hepatosplenomegaly, Lymphadenopathy OMIM:618982
Immunodeficiency 27A
Anorexia, Splenomegaly, Enlarged mesenteric lymph node, Lymphadenopathy, Hepatosplenomegaly OMIM:209950
Aniridia 2
Aniridia, Iris coloboma, Cataract, Lens subluxation OMIM:617141
Mu-Heavy Chain Disease
Splenomegaly, Lymphadenopathy ORPHA:100024
Rosaï-Dorfman Disease
Lymphadenopathy ORPHA:158014
Coats Disease
Aplasia/Hypoplasia of the iris, Cataract, Abnormal anterior chamber morphology ORPHA:190
Alpha-Heavy Chain Disease
Splenomegaly, Lymphadenopathy ORPHA:100025
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
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center OMIM:606843
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Pleural Mesothelioma
Dysphagia, Lymphadenopathy ORPHA:50251
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Ectopia lentis ORPHA:1068
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Lymphadenopathy, Follicular hyperplasia OMIM:619846
Burkitt Lymphoma
Abnormality of the spleen, Abnormal lymph node morphology ORPHA:543
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... OMIM:225200
Peters Anomaly
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... ORPHA:708
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy OMIM:300853
Immunodeficiency 52
Splenomegaly, Lymphadenopathy OMIM:617514
Immunodeficiency 64 With Lymphoproliferation
Splenomegaly, Mediastinal lymphadenopathy, Cervical lymphadenopathy, Lymphadenopathy, Hepatosplen... OMIM:618534
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy OMIM:618987
Autosomal Dominant Keratitis
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... ORPHA:2334
Cataract 3, Multiple Types
Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract OMIM:601547
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly OMIM:613101
Pfapa Syndrome
Splenomegaly, Lymphadenopathy ORPHA:42642
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Cataract OMIM:619082
Autoimmune Lymphoproliferative Syndrome, Type Iii
Generalized lymphadenopathy, Follicular hyperplasia, Mediastinal lymphadenopathy, Splenomegaly, L... OMIM:615559
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... OMIM:610256
Immunodeficiency With Hyper-Igm, Type 4
Absence of lymph node germinal center OMIM:608184
Tularemia
Abnormal nasopharyngeal adenoid morphology, Cervical lymphadenopathy, Mediastinal lymphadenopathy... ORPHA:3392
Amoebic Keratitis
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... ORPHA:67043
Cataract 5, Multiple Types
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract OMIM:116800
Nephroblastoma
Aniridia, Lymphadenopathy ORPHA:654
Immunodeficiency 103, Susceptibility To Fungal Infections
Lymphadenopathy OMIM:212050
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Generalized lymphadenopathy, Aplasia of the thymus, Splenomegaly, Lymph node hypoplasia, Absent t... OMIM:602450
Immunodeficiency 10
Hypoplasia of the iris, Lymphadenopathy OMIM:612783
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Proximal Myotonic Myopathy
Cataract ORPHA:606
Leukocyte Adhesion Deficiency, Type Iii
Splenomegaly, Abnormal lymph node morphology, Hepatosplenomegaly OMIM:612840
Caspase 8 Deficiency
Splenomegaly, Lymphadenopathy OMIM:607271
Immunodeficiency, Common Variable, 1
Splenomegaly, Conjunctivitis, Lymphadenopathy OMIM:607594
Familial Cold Autoinflammatory Syndrome 2
Splenomegaly, Lymphadenopathy OMIM:611762
Immunodeficiency 109 With Lymphoproliferation
Splenomegaly, Generalized lymphadenopathy OMIM:620282
Classic Mycosis Fungoides
Splenomegaly, Lymphadenopathy ORPHA:2584
Myopia 28, Autosomal Recessive
Cataract OMIM:619781
Cataract 20, Multiple Types
Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract OMIM:116100
Griscelli Syndrome Type 2
Splenomegaly, Iris hypopigmentation, Lymphadenopathy ORPHA:79477
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, Absence of lymph node germinal center ORPHA:277
Schnitzler Syndrome
Splenomegaly, Lymphadenopathy ORPHA:37748
Pseudomyxoma Peritonei
Lymphadenopathy ORPHA:26790
Activated Pi3K-Delta Syndrome
Splenomegaly, Recurrent tonsillitis, Lymphadenopathy ORPHA:397596
Heme Oxygenase 1 Deficiency
Asplenia, Cervical lymphadenopathy, Chemosis, Lymphadenopathy OMIM:614034
Thyroid Lymphoma
Dysphagia, Lymphadenopathy ORPHA:97285
Isolated Aniridia
Aniridia, Cataract, Peters anomaly ORPHA:250923
Griscelli Syndrome
Ataxia, Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity, Iris hypopigmentation ORPHA:381
Immunodeficiency 105
Hepatosplenomegaly, Absence of lymph node germinal center OMIM:619924
Congenital Toxoplasmosis
Lymphadenopathy ORPHA:858
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Splenomegaly, Lymphadenopathy OMIM:618495
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Splenomegaly, Lymphadenopathy OMIM:150550
Immunodeficiency 54
Splenomegaly, Lymphadenopathy OMIM:609981
Cold Agglutinin Disease
Splenomegaly, Lymphadenopathy ORPHA:56425
Leishmaniasis
Splenomegaly, Anorexia, Lymphadenopathy ORPHA:507
Indolent Systemic Mastocytosis
Splenomegaly, Lymphadenopathy ORPHA:98848
Niemann-Pick Disease, Type A
Inability to walk, Splenomegaly, Athetosis, Lymphadenopathy OMIM:257200
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Splenomegaly, Lymphadenopathy OMIM:619375
Aniridia 3
Aniridia, Cataract OMIM:617142
Middle Ear Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100084
Norrie Disease
Cataract, Corneal opacity, Aggressive behavior, Leukocoria, Hypoplasia of the iris, Buphthalmos, ... OMIM:310600
Aniridia And Absent Patella
Aniridia, Cataract OMIM:106220
Mevalonic Aciduria
Cataract, Ataxia, Fluctuating splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Progressive cere... OMIM:610377
Ras-Associated Autoimmune Leukoproliferative Disorder
Splenomegaly, Follicular hyperplasia OMIM:614470
Medullary Thyroid Carcinoma
Dysphagia, Lymphadenopathy ORPHA:1332
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Lymphoproliferative Syndrome 2
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly OMIM:615122
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormality of the lymphatic system, Abnormal lymph node morphology ORPHA:54251
Immunodeficiency 7
Splenomegaly, Lymphadenopathy OMIM:615387
Systemic-Onset Juvenile Idiopathic Arthritis
Splenomegaly, Lymphadenopathy ORPHA:85414
Purine Nucleoside Phosphorylase Deficiency
Splenomegaly, Ataxia, Lymph node hypoplasia OMIM:613179
Cinca Syndrome
Lymphadenopathy, Hepatosplenomegaly OMIM:607115
Anaplastic Thyroid Carcinoma
Dysphagia, Lymphadenopathy ORPHA:142
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphadenitis, Abnormal lymph node morphology, Lymphadenopathy, Hepatosplenomegaly ORPHA:911
Rhabdoid Tumor
Lymphadenopathy ORPHA:69077
Cataract 39, Multiple Types
Lamellar cataract, Anterior polar cataract, Developmental cataract OMIM:615188
Roifman Syndrome
Splenomegaly, Lymphadenopathy OMIM:616651
Acquired Hypertrichosis Lanuginosa
Lymphadenopathy ORPHA:2221
Vitreoretinal Degeneration, Snowflake Type
Cataract, Corneal guttata OMIM:193230
Roifman Syndrome
Lymphadenopathy, Hepatosplenomegaly ORPHA:353298
Primary Myelofibrosis
Splenomegaly, Lymphadenopathy, Anorexia, Hepatosplenomegaly ORPHA:824
Deafness-Lymphedema-Leukemia Syndrome
Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy ORPHA:3226
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Splenomegaly, Lymphadenitis, Recurrent tonsillitis, Lymphadenopathy, Hepatosplenomegaly OMIM:618935
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Lymphadenopathy, Hepatosplenomegaly OMIM:619750
Squamous Cell Carcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424019
Papa Syndrome
Lymphadenopathy ORPHA:69126
Autoimmune Lymphoproliferative Syndrome
Splenomegaly, Chronic noninfectious lymphadenopathy, Follicular hyperplasia OMIM:601859
Desmoplastic Small Round Cell Tumor
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:83469
Gamma-Heavy Chain Disease
Splenomegaly, Dysphagia, Lymphadenopathy ORPHA:100026
Boutonneuse Fever
Cervical lymphadenopathy, Lymphadenopathy ORPHA:83313
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymph node hypoplasia, Absent tonsils ORPHA:276
Cutaneous Mastocytoma
Lymphadenopathy ORPHA:79455
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hypoplasia of the iris, Splenomegaly, Lymphadenopathy ORPHA:169090
Autoimmune Lymphoproliferative Syndrome, Type Iia
Splenomegaly, Follicular hyperplasia, Chronic noninfectious lymphadenopathy, Lymphadenopathy OMIM:603909
Sézary Syndrome
Splenomegaly, Lymphadenopathy ORPHA:3162
Aggressive Systemic Mastocytosis
Hypersplenism, Lymphadenopathy, Anorexia, Hepatosplenomegaly ORPHA:98850
Hypocomplementemic Urticarial Vasculitis
Splenomegaly, Conjunctivitis, Ataxia, Lymphadenopathy ORPHA:36412
Lymphoproliferative Syndrome, X-Linked, 1
Splenomegaly, Lymphadenopathy OMIM:308240
Proteasome-Associated Autoinflammatory Syndrome 4
Splenomegaly, Lymphadenopathy OMIM:619183
Pulmonary Non-Tuberculous Mycobacterial Infection
Lymphadenopathy ORPHA:411703
Cataract 31, Multiple Types
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract OMIM:605387
Hyperimmunoglobulinemia D With Periodic Fever
Ataxia, Lymphadenopathy ORPHA:343
Legionnaires Disease
Ataxia, Anorexia, Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity ORPHA:549
Immunodeficiency 91 And Hyperinflammation
Lymphadenopathy, Hepatosplenomegaly OMIM:619644
Cyclic Neutropenia
Cervical lymphadenopathy, Recurrent tonsillitis, Lymphadenopathy ORPHA:2686
Proteasome-Associated Autoinflammatory Syndrome 2
Lymphadenopathy OMIM:618048
Melkersson-Rosenthal Syndrome
Lymphadenopathy ORPHA:2483
Chediak-Higashi Syndrome
Ataxia, Splenomegaly, Ocular albinism, Lymphadenopathy, Gait disturbance, Iris hypopigmentation OMIM:214500
American Trypanosomiasis
Splenomegaly, Lymphadenopathy ORPHA:3386
Scrub Typhus
Splenomegaly, Lymphadenopathy ORPHA:83317
Cataract 15, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:615274
Cataract 33, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:611391
Klatskin Tumor
Lymphadenopathy ORPHA:99978
Immunodeficiency 97 With Autoinflammation
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Hepatosplenomegaly OMIM:619802
Periodic Fever, Familial, Autosomal Dominant
Cervical lymphadenopathy, Conjunctivitis, Conjunctival hyperemia OMIM:142680
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
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Leukocoria, Microcornea, Buphthalmos, Shallow anterior chamber, Poster... OMIM:221900
Diffuse Cutaneous Mastocytosis
Abnormality of the spleen, Lymphadenopathy ORPHA:79456
Acute Monoblastic/Monocytic Leukemia
Cervical lymphadenopathy, Anorexia ORPHA:514
Lymphoproliferative Syndrome 1
Splenomegaly, Lymphadenopathy OMIM:613011
Omenn Syndrome
Splenomegaly, Lymphadenopathy ORPHA:39041
Thymic Neuroendocrine Tumor
Neoplasm of the thymus, Mediastinal lymphadenopathy, Chronic noninfectious lymphadenopathy ORPHA:97289
Immunodeficiency 98 With Autoinflammation, X-Linked
Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy OMIM:301078
Castleman Disease
Mediastinal lymphadenopathy, Follicular hyperplasia, Generalized lymphadenopathy, Lymphadenopathy ORPHA:160
Omenn Syndrome
Splenomegaly, Hypoplasia of the thymus, Lymphadenopathy OMIM:603554
Cinca Syndrome
Splenomegaly, Lymphadenopathy ORPHA:1451
Hereditary Amyloidosis With Primary Renal Involvement
Abnormal lymph node morphology, Lymphadenopathy, Hepatosplenomegaly ORPHA:85450
Felty Syndrome
Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy ORPHA:47612
Acute Promyelocytic Leukemia
Addictive alcohol use, Anorexia, Lymphadenopathy ORPHA:520
Aniridia 1
Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,... OMIM:106210
Mixed Connective Tissue Disease
Splenomegaly, Mediastinal lymphadenopathy, Keratoconjunctivitis sicca, Lymphadenopathy ORPHA:809
Pancreatoblastoma
Abnormal lymph node morphology ORPHA:677
Farber Disease
Corneal opacity, Lymphadenopathy, Hepatosplenomegaly, Abnormal conjunctiva morphology, Opacificat... ORPHA:333
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphadenopathy, Hepatosplenomegaly ORPHA:169154
Carney Triad
Mediastinal lymphadenopathy, Anorexia, Lymphadenopathy ORPHA:139411
Hemophagocytic Lymphohistiocytosis, Familial, 1
Splenomegaly, Ataxia, Lymphadenopathy OMIM:267700
Immunodeficiency, Common Variable, 8, With Autoimmunity
Splenomegaly, Generalized lymphadenopathy, Conjunctivitis, Lymphadenopathy OMIM:614700
Hemophagocytic Lymphohistiocytosis, Familial, 2
Splenomegaly, Ataxia, Lymphadenopathy, Hepatosplenomegaly OMIM:603553
Macrophage Activation Syndrome
Splenomegaly, Lymphadenopathy ORPHA:158061
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Enlarged tonsils, Lymphadenopathy, Hepatosplenomegaly OMIM:606367
Proteasome-Associated Autoinflammatory Syndrome 3
Splenomegaly, Conjunctivitis, Lymphadenopathy OMIM:617591
Immunodeficiency With Hyper-Igm, Type 1
Splenomegaly, Enlarged tonsils, Absence of lymph node germinal center OMIM:308230
Waldenström Macroglobulinemia
Splenomegaly, Ataxia, Anorexia, Lymphadenopathy ORPHA:33226
Kikuchi-Fujimoto Disease
Generalized lymphadenopathy, Ataxia, Anorexia, Splenomegaly, Cervical lymphadenopathy, Abnormal l... ORPHA:50918
Neuroendocrine Tumor Of The Colon
Chronic noninfectious lymphadenopathy, Anorexia ORPHA:100080
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
Tangier Disease
Orange discolored tonsils, Corneal opacity, Chronic noninfectious lymphadenopathy, Hepatosplenome... ORPHA:31150
Cutaneous Neuroendocrine Carcinoma
Chronic noninfectious lymphadenopathy ORPHA:79140
Familial Hemophagocytic Lymphohistiocytosis
Splenomegaly, Lymphadenopathy ORPHA:540
Familial Pancreatic Carcinoma
Lymphadenopathy, Anorexia, Hepatosplenomegaly ORPHA:1333
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Lymphadenitis, Generalized lymphadenopathy, Hepatosplenomegaly OMIM:618986
Acute Interstitial Pneumonia
Lymphadenopathy ORPHA:79126
Agammaglobulinemia, X-Linked
Lymph node hypoplasia, Conjunctivitis OMIM:300755
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Splenomegaly, Lymphadenitis, Lymphadenopathy OMIM:615895
Aregenerative Anemia
Bone marrow hypocellularity, Lymphadenopathy ORPHA:101096
Hyper-Igd Syndrome
Splenomegaly, Lymphadenitis, Lymphadenopathy, Hepatosplenomegaly OMIM:260920
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Splenomegaly, Lymphadenitis, Lymphadenopathy OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Splenomegaly, Lymphadenitis, Lymphadenopathy OMIM:233710
Malt Lymphoma
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:52417
Acute Generalized Exanthematous Pustulosis
Conjunctivitis, Lymphadenopathy ORPHA:293173
Histiocytosis-Lymphadenopathy Plus Syndrome
Splenomegaly, Cervical lymphadenopathy, Lymphadenopathy, Hepatosplenomegaly, Corneal arcus OMIM:602782
Pulmonary Capillary Hemangiomatosis
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:199241
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Splenomegaly, Lymphadenitis, Lymphadenopathy OMIM:233690
Chédiak-Higashi Syndrome
Ataxia, Splenomegaly, Inability to walk, Lymphadenopathy, Hepatosplenomegaly, Gait disturbance, I... ORPHA:167
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Lymphadenopathy OMIM:617099
H Syndrome
Corneal arcus, Lymphadenopathy, Hepatosplenomegaly ORPHA:168569
Graft Versus Host Disease
Lymphadenopathy, Hepatosplenomegaly ORPHA:39812
Gallbladder Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Anorexia ORPHA:100086
Pediatric Systemic Lupus Erythematosus
Lymphadenopathy ORPHA:93552
Drug Reaction With Eosinophilia And Systemic Symptoms
Lymphadenopathy ORPHA:139402
Lymphatic Filariasis
Lymphadenitis, Abnormality of the lymphatic system, Lymphangiectasis, Lymphadenopathy ORPHA:2035
Behçet Disease
Cataract, Ataxia, Anorexia, Splenomegaly, Lymphadenopathy, Keratoconjunctivitis sicca, Gait distu... ORPHA:117
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Ataxia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Agitation, Bone marrow hypocellularity OMIM:615688
Q Fever
Splenomegaly, Lymphadenopathy, Anorexia, Hepatosplenomegaly ORPHA:781
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Absence of lymph node germinal center, Hepatosplenomegaly ORPHA:79124
Selective Igm Deficiency
Keratitis, Lymphadenitis, 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
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Splenomegaly, Polysplenia, Lymphadenopathy OMIM:619418
Immunodeficiency 55
Lymphadenopathy OMIM:617827
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Lymphadenopathy ORPHA:83471
Poems Syndrome
Lymphadenopathy ORPHA:2905
Granulomatous Disease, Chronic, X-Linked
Splenomegaly, Lymphadenitis, Lymphadenopathy OMIM:306400
Common Variable Immunodeficiency
Splenomegaly, Lymphadenopathy ORPHA:1572
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Absent peripheral lymph nodes in presence of infection OMIM:600802
Cherubism
Submandibular lymph node enlargement OMIM:118400
Hennekam Syndrome
Splenomegaly, Lymphangioma, Pulmonary lymphangiectasia, Lymphadenopathy ORPHA:2136
Multiple Myeloma
Splenomegaly, Lymphadenopathy ORPHA:29073
Spondyloenchondrodysplasia With Immune Dysregulation
Lymphadenopathy OMIM:607944
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Splenomegaly, Conjunctivitis, Lymphadenopathy ORPHA:32960
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Splenomegaly, Lymphadenopathy ORPHA:37042
Autoimmune Lymphoproliferative Syndrome
Chronic noninfectious lymphadenopathy, Hypersplenism, Splenomegaly, Lymphadenopathy, Bone marrow ... ORPHA:3261
Adenocarcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424016
Lymphangioleiomyomatosis
Pulmonary lymphangiomyomatosis, Abnormality of the lymphatic system, Lymphadenopathy ORPHA:538
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Lymphadenopathy, Hepatosplenomegaly ORPHA:85408
Immunodeficiency 31C
Splenomegaly, Lymphadenopathy OMIM:614162
African Trypanosomiasis
Akinesia, Aggressive behavior, Keratitis, Splenomegaly, Hepatosplenomegaly, Lymphadenopathy, Chor... ORPHA:3385
Blau Syndrome
Keratitis, Splenomegaly, Cataract, Lymphadenopathy ORPHA:90340
Coccidioidomycosis
Abnormality of the spleen, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:228123
Sarcoidosis
Cataract, Abnormal lymph node morphology, Lymphadenopathy, Keratoconjunctivitis sicca, Abnormal c... ORPHA:797
Plague
Anorexia, Splenomegaly, Lymphadenitis, Unsteady gait, Enlarged mesenteric lymph node, Conjunctiva... ORPHA:707
Familial Mediterranean Fever
Splenomegaly, Lymphadenopathy ORPHA:342
Ileal Neuroendocrine Tumor
Lymphadenopathy ORPHA:100078
Brucellosis
Hypersplenism, Splenomegaly, Anorexia, Lymphadenopathy ORPHA:1304
Immunodeficiency 82 With Systemic Inflammation
Splenomegaly, Follicular hyperplasia, Anorexia, Lymphadenopathy OMIM:619381
Chikungunya
Cervical lymphadenopathy, Lymphadenopathy ORPHA:324625
Marburg Hemorrhagic Fever
Aggressive behavior, Conjunctival hyperemia, Anorexia, Lymphadenopathy ORPHA:99826
Crimean-Congo Hemorrhagic Fever
Anorexia, Splenomegaly, Lymphadenopathy, Conjunctivitis, Agitation ORPHA:99827
Proteasome-Associated Autoinflammatory Syndrome 1
Punctate opacification of the cornea, Splenomegaly, Conjunctivitis, Lymphadenopathy OMIM:256040
Autosomal Recessive Malignant Osteopetrosis
Splenomegaly, Lymphadenopathy ORPHA:667
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
Leptospirosis
Conjunctival hyperemia, Anorexia, Lymphadenopathy ORPHA:509
Systemic Lupus Erythematosus
Lymphadenopathy ORPHA:536
Cushing Syndrome Due To Ectopic Acth Secretion
Neoplasm of the thymus, Anorexia, Abnormal lymph node morphology ORPHA:99889
Igg4-Related Kidney Disease
Lymphadenitis, Lymphadenopathy ORPHA:449395

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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