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
increased vertical activity Rnpepl1em1(IMPC)Mbp HOM Early adult 3.12×10-05
cataract Rnpepl1em1(IMPC)Mbp HOM Early adult 8.34×10-05
enlarged lymph nodes Rnpepl1em1(IMPC)Mbp HOM Early adult 0.00
abnormal lymph node morphology Rnpepl1em1(IMPC)Mbp HOM Early adult 0.00

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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
Immunodeficiency 32A
Lymphadenopathy OMIM:614893
Cataract 20, Multiple Types
Membranous cataract, Cataract OMIM:116100
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormality of the lymph nodes OMIM:136580
Hydrocephaly-Cerebellar Agenesis Syndrome
Ataxia, Cataract ORPHA:1397
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 36
Cataract OMIM:613887
Cataract 18
Cataract OMIM:610019
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Spinocerebellar Ataxia, Autosomal Recessive 24
Spastic gait, Gait ataxia, Cataract, Limb ataxia OMIM:617133
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center OMIM:235550
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Pulmonary Nodular Lymphoid Hyperplasia
Follicular hyperplasia, Mediastinal lymphadenopathy ORPHA:60026
Aniridia 3
Cataract OMIM:617142
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Corneal Dystrophy, Groenouw Type I
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy OMIM:121900
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract, Splenomegaly OMIM:619813
Dysequilibrium Syndrome
Gait disturbance, Ataxia, Cataract ORPHA:1766
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Spastic Paraparesis-Deafness Syndrome
Gait disturbance, Ataxia, Cataract ORPHA:2815
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Kerion Celsi
Lymphadenopathy ORPHA:499
Immunodeficiency 75
Hepatosplenomegaly, Follicular hyperplasia, Lymphadenopathy OMIM:619126
Trichomegaly
Cataract OMIM:190330
Cataract-Microcornea Syndrome
Corneal opacity, Microcornea, Iris coloboma, Cataract, Corneal dystrophy ORPHA:1377
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy, Conjunctivitis OMIM:617772
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Thanatophoric Dysplasia, Glasgow Variant
Hepatosplenomegaly, Cataract OMIM:273680
Kimura Disease
Follicular hyperplasia, Lymphadenopathy ORPHA:482
Cataract 9, Multiple Types
Progressive cataract, Microcornea, Iris coloboma, Cataract, Developmental cataract OMIM:604219
Immunodeficiency 7
Lymphadenopathy OMIM:615387
Megalocornea
Lens subluxation, Mosaic corneal dystrophy, Megalocornea, Astigmatism, Iridodonesis, Cataract, Ir... OMIM:309300
Galactosemia Iv
Cataract OMIM:618881
Hypoalphalipoproteinemia, Primary, 2
Cataract, Corneal arcus OMIM:618463
Carcinoma Of Esophagus
Lymphadenopathy ORPHA:70482
Immunodeficiency 104
Lymphadenopathy, Splenomegaly OMIM:608971
Morm Syndrome
Hyperactivity, Cataract ORPHA:75858
Anterior Segment Dysgenesis 8
Microphakia, Ectopia pupillae, Uveal ectropion, Hypoplasia of the iris, Cataract, Iris transillum... OMIM:617319
Autoinflammation With Episodic Fever And Lymphadenopathy
Lymphadenopathy, Recurrent tonsillitis, Splenomegaly OMIM:618852
Fish-Eye Disease
Corneal opacity, Lymphadenopathy, Splenomegaly ORPHA:79292
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Hodgkin Lymphoma
Ataxia, Lymphadenopathy, Splenomegaly ORPHA:98293
Mast Cell Sarcoma
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly ORPHA:66661
Microphthalmia, Isolated, With Coloboma 3
Iris coloboma, Cataract OMIM:610092
Cataract 1, Multiple Types
Nuclear cataract, Posterior subcapsular cataract, Microcornea, Pulverulent cataract, Developmenta... OMIM:116200
Pellagra-Like Syndrome
Ataxia, Cataract OMIM:260650
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphadenopathy, Splenomegaly ORPHA:444463
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:86893
Follicular Lymphoma
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly ORPHA:545
Galactose Epimerase Deficiency
Cataract, Splenomegaly ORPHA:79238
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Lymphadenopathy OMIM:618261
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Mevalonic Aciduria
Ataxia, Cataract, Splenomegaly ORPHA:29
Cataract 15, Multiple Types
Nuclear cataract, Lamellar cataract, Cataract, Developmental cataract, Cortical cataract OMIM:615274
Exfoliation Syndrome
Lens subluxation, Anisocoria, Mydriasis, Pseudoexfoliation, Cataract, Phakodonesis, Pigment depos... OMIM:177650
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Persistent pupillary membrane OMIM:225200
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Cochleosaccular Degeneration-Cataract Syndrome
Ataxia, Cataract ORPHA:3233
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Chronic noninfectious lymphadenopathy, Abnormality of the lymph nodes ORPHA:97290
Granulomatous Slack Skin
Abnormality of the lymph nodes ORPHA:33111
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy OMIM:608106
Cataract 47
Cataract, Microcornea OMIM:612018
Familial Papillary Or Follicular Thyroid Carcinoma
Chronic noninfectious lymphadenopathy, Abnormality of the lymph nodes ORPHA:319487
Immunodeficiency 76
Lymphadenopathy, Splenomegaly OMIM:619164
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy OMIM:618987
Immunodeficiency, Common Variable, 2
Follicular hyperplasia, Conjunctivitis, Lymphadenopathy, Splenomegaly OMIM:240500
Hemophagocytic Lymphohistiocytosis, Familial, 4
Lymphadenopathy, Conjunctivitis, Splenomegaly OMIM:603552
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Immunodeficiency 14A, Autosomal Dominant
Lymphadenopathy, Splenomegaly OMIM:615513
Immunodeficiency 72 With Autoinflammation
Hepatosplenomegaly, Lymphadenopathy OMIM:618982
Coats Disease
Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris, Cataract ORPHA:190
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Lymphadenopathy, Fluctuating splenomegaly OMIM:619220
Mu-Heavy Chain Disease
Lymphadenopathy, Splenomegaly ORPHA:100024
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Corneal opacity, Aplasia/Hypoplasia of the iris, Cataract, Persistent pupillary membrane ORPHA:1067
Rosaï-Dorfman Disease
Lymphadenopathy ORPHA:158014
Aniridia 2
Iris coloboma, Lens subluxation, Cataract, Aniridia OMIM:617141
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center OMIM:606843
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100083
Aniridia-Intellectual Disability Syndrome
Cataract, Ectopia lentis, Aniridia ORPHA:1068
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Follicular hyperplasia, Lymphadenopathy OMIM:619846
Anterior Segment Dysgenesis 7
Buphthalmos, Microcornea, Cataract, Ocular anterior segment dysgenesis, Sclerocornea OMIM:269400
Burkitt Lymphoma
Abnormality of the spleen, Abnormality of the lymph nodes ORPHA:543
Cataract 10, Multiple Types
Posterior Y-sutural cataract, Developmental cataract, Zonular cataract OMIM:600881
Alpha-Heavy Chain Disease
Lymphadenopathy, Splenomegaly ORPHA:100025
Peters Anomaly
Subcapsular cataract, Central opacification of the cornea, Thinning of Descemet membrane, Opacifi... ORPHA:708
Myopia, High, With Cataract And Vitreoretinal Degeneration
Lens subluxation, Cataract OMIM:614292
Immunodeficiency 64
Splenomegaly, Cervical lymphadenopathy, Hepatosplenomegaly, Mediastinal lymphadenopathy, Lymphade... OMIM:618534
Classic Hodgkin Lymphoma
Bone marrow hypocellularity, Ataxia, Lymphadenopathy, Splenomegaly ORPHA:391
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly OMIM:300853
Immunodeficiency 52
Lymphadenopathy, Splenomegaly OMIM:617514
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hepatosplenomegaly, Lymphadenopathy, Splenomegaly OMIM:613101
Autosomal Dominant Keratitis
Keratitis, Hypoplastic iris stroma, Corneal neovascularization, Opacification of the corneal stro... ORPHA:2334
Pfapa Syndrome
Lymphadenopathy, Splenomegaly ORPHA:42642
Autoimmune Lymphoproliferative Syndrome, Type Iii
Splenomegaly, Hepatosplenomegaly, Follicular hyperplasia, Mediastinal lymphadenopathy, Generalize... OMIM:615559
Immunodeficiency, Common Variable, 1
Lymphadenopathy, Conjunctivitis, Splenomegaly OMIM:607594
Immunodeficiency With Hyper-Igm, Type 4
Absence of lymph node germinal center OMIM:608184
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea OMIM:619082
Cataract 3, Multiple Types
Developmental cataract, Nuclear pulverulent cataract, Cerulean cataract, Sutural cataract OMIM:601547
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Ataxia, Inability to walk, Cataract, Splenomegaly OMIM:608885
Amoebic Keratitis
Corneal perforation, Corneal ulceration, Abnormal cornea morphology, Abnormal anterior chamber mo... ORPHA:67043
Anterior Segment Dysgenesis 2
Congenital aphakia, Corneal opacity, Microcornea, Peters anomaly, Cataract, Posterior synechiae o... OMIM:610256
Immunodeficiency 27A
Enlarged mesenteric lymph node, Hepatosplenomegaly, Lymphadenopathy, Splenomegaly OMIM:209950
Immunodeficiency 10
Lymphadenopathy, Hypoplasia of the iris OMIM:612783
Immunodeficiency 103, Susceptibility To Fungal Infections
Lymphadenopathy OMIM:212050
Nephroblastoma
Lymphadenopathy, Aniridia ORPHA:654
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, Absence of lymph node germinal center ORPHA:277
Tularemia
Abnormal nasopharyngeal adenoid morphology, Cervical lymphadenopathy, Mediastinal lymphadenopathy... ORPHA:3392
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Leukocyte Adhesion Deficiency, Type Iii
Hepatosplenomegaly, Abnormality of the lymph nodes, Splenomegaly OMIM:612840
Proximal Myotonic Myopathy
Cataract ORPHA:606
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Aplasia of the thymus, Splenomegaly, Generalized lymphadenopathy, Lymph node hypoplasia, Absent t... OMIM:602450
Cataract 5, Multiple Types
Nuclear cataract, Zonular cataract, Anterior polar cataract, Lamellar cataract, Pulverulent cataract OMIM:116800
Classic Mycosis Fungoides
Lymphadenopathy, Splenomegaly ORPHA:2584
Caspase 8 Deficiency
Lymphadenopathy, Splenomegaly OMIM:607271
Schnitzler Syndrome
Lymphadenopathy, Splenomegaly ORPHA:37748
Pseudomyxoma Peritonei
Lymphadenopathy ORPHA:26790
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Splenomegaly OMIM:611762
Heme Oxygenase 1 Deficiency
Cervical lymphadenopathy, Chemosis, Lymphadenopathy, Asplenia OMIM:614034
Griscelli Syndrome Type 2
Iris hypopigmentation, Lymphadenopathy, Splenomegaly ORPHA:79477
Isolated Aniridia
Peters anomaly, Cataract, Aniridia ORPHA:250923
Pleural Mesothelioma
Lymphadenopathy ORPHA:50251
Griscelli Syndrome
Ataxia, Splenomegaly, Iris hypopigmentation, Bone marrow hypocellularity, Lymphadenopathy ORPHA:381
Immunodeficiency 105
Hepatosplenomegaly, Absence of lymph node germinal center OMIM:619924
Myopia 28, Autosomal Recessive
Cataract OMIM:619781
Indolent Systemic Mastocytosis
Lymphadenopathy, Splenomegaly ORPHA:98848
Cold Agglutinin Disease
Lymphadenopathy, Splenomegaly ORPHA:56425
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Lymphadenopathy, Splenomegaly OMIM:618495
Congenital Toxoplasmosis
Lymphadenopathy ORPHA:858
Niemann-Pick Disease, Type A
Lymphadenopathy, Inability to walk, Splenomegaly, Athetosis OMIM:257200
Immunodeficiency 54
Lymphadenopathy, Splenomegaly OMIM:609981
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Lymphadenopathy, Splenomegaly OMIM:150550
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
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormality of the lymphatic system, Abnormality of the lymph nodes ORPHA:54251
Ras-Associated Autoimmune Leukoproliferative Disorder
Follicular hyperplasia, Splenomegaly OMIM:614470
Lymphoproliferative Syndrome 2
Hepatosplenomegaly, Lymphadenopathy, Splenomegaly OMIM:615122
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Mevalonic Aciduria
Ataxia, Progressive cerebellar ataxia, Nuclear cataract, Fluctuating splenomegaly, Hepatosplenome... OMIM:610377
Systemic-Onset Juvenile Idiopathic Arthritis
Lymphadenopathy, Splenomegaly ORPHA:85414
Cinca Syndrome
Hepatosplenomegaly, Lymphadenopathy OMIM:607115
Purine Nucleoside Phosphorylase Deficiency
Lymph node hypoplasia, Ataxia, Splenomegaly OMIM:613179
Rhabdoid Tumor
Lymphadenopathy ORPHA:69077
Omenn Syndrome
Hypoplasia of the thymus, Lymphadenopathy, Splenomegaly OMIM:603554
Combined Immunodeficiency Due To Zap70 Deficiency
Hepatosplenomegaly, Lymphadenitis, Lymphadenopathy, Abnormality of the lymph nodes ORPHA:911
Roifman Syndrome
Lymphadenopathy, Splenomegaly OMIM:616651
Roifman Syndrome
Hepatosplenomegaly, Lymphadenopathy ORPHA:353298
Acquired Hypertrichosis Lanuginosa
Lymphadenopathy ORPHA:2221
Vitreoretinal Degeneration, Snowflake Type
Corneal guttata, Cataract OMIM:193230
Autoimmune Lymphoproliferative Syndrome
Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Splenomegaly OMIM:601859
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly ORPHA:3226
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent tonsillitis, Splenomegaly, Hepatosplenomegaly, Lymphadenitis, Lymphadenopathy OMIM:618935
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Lymphadenopathy ORPHA:69126
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Hepatosplenomegaly, Lymphadenopathy OMIM:619750
Leishmaniasis
Lymphadenopathy, Splenomegaly ORPHA:507
Combined Immunodeficiency Due To Crac Channel Dysfunction
Lymphadenopathy, Hypoplasia of the iris, Splenomegaly ORPHA:169090
Thyroid Lymphoma
Lymphadenopathy ORPHA:97285
Squamous Cell Carcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424019
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymph node hypoplasia, Absent tonsils ORPHA:276
Desmoplastic Small Round Cell Tumor
Lymphadenopathy, Mediastinal lymphadenopathy ORPHA:83469
Hypocomplementemic Urticarial Vasculitis
Ataxia, Lymphadenopathy, Conjunctivitis, Splenomegaly ORPHA:36412
Boutonneuse Fever
Cervical lymphadenopathy, Lymphadenopathy ORPHA:83313
Autoimmune Lymphoproliferative Syndrome, Type Iia
Chronic noninfectious lymphadenopathy, Lymphadenopathy, Follicular hyperplasia, Splenomegaly OMIM:603909
Sézary Syndrome
Lymphadenopathy, Splenomegaly ORPHA:3162
Proteasome-Associated Autoinflammatory Syndrome 4
Lymphadenopathy, Splenomegaly OMIM:619183
Lymphoproliferative Syndrome, X-Linked, 1
Lymphadenopathy, Splenomegaly OMIM:308240
Hyperimmunoglobulinemia D With Periodic Fever
Ataxia, Lymphadenopathy ORPHA:343
Cataract 31, Multiple Types
Nuclear cataract, Posterior subcapsular cataract, Anterior subcapsular cataract OMIM:605387
Chediak-Higashi Syndrome
Ataxia, Ocular albinism, Splenomegaly, Gait disturbance, Iris hypopigmentation, Lymphadenopathy OMIM:214500
Klatskin Tumor
Lymphadenopathy ORPHA:99978
Pulmonary Non-Tuberculous Mycobacterial Infection
Lymphadenopathy ORPHA:411703
Immunodeficiency 91 And Hyperinflammation
Hepatosplenomegaly, Lymphadenopathy OMIM:619644
Proteasome-Associated Autoinflammatory Syndrome 2
Lymphadenopathy OMIM:618048
Cyclic Neutropenia
Cervical lymphadenopathy, Lymphadenopathy, Recurrent tonsillitis ORPHA:2686
American Trypanosomiasis
Lymphadenopathy, Splenomegaly ORPHA:3386
Scrub Typhus
Lymphadenopathy, Splenomegaly ORPHA:83317
Norrie Disease
Corneal opacity, Shallow anterior chamber, Buphthalmos, Opacification of the corneal stroma, Hypo... OMIM:310600
Primary Myelofibrosis
Hepatosplenomegaly, Lymphadenopathy, Splenomegaly ORPHA:824
Medullary Thyroid Carcinoma
Lymphadenopathy ORPHA:1332
Legionnaires Disease
Bone marrow hypocellularity, Ataxia, Lymphadenopathy, Splenomegaly ORPHA:549
Anaplastic Thyroid Carcinoma
Lymphadenopathy ORPHA:142
Periodic Fever, Familial, Autosomal Dominant
Cervical lymphadenopathy, Conjunctivitis, Conjunctival hyperemia OMIM:142680
Melkersson-Rosenthal Syndrome
Lymphadenopathy ORPHA:2483
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Corneal opacity, Shallow anterior chamber, Buphthalmos, Microcornea, Iris coloboma, Cataract, Leu... OMIM:221900
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphadenopathy, Splenomegaly OMIM:616100
Diffuse Cutaneous Mastocytosis
Lymphadenopathy, Abnormality of the spleen ORPHA:79456
Immunodeficiency 97 With Autoinflammation
Hepatosplenomegaly, Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly OMIM:619802
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphadenopathy OMIM:617718
Aggressive Systemic Mastocytosis
Hepatosplenomegaly, Lymphadenopathy, Hypersplenism ORPHA:98850
Omenn Syndrome
Lymphadenopathy, Splenomegaly ORPHA:39041
Thymic Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Mediastinal lymphadenopathy, Neoplasm of the thymus ORPHA:97289
Cataract 33, Multiple Types
Cortical cataract, Lamellar cataract, Nuclear cataract OMIM:611391
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly OMIM:301078
Felty Syndrome
Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly ORPHA:47612
Cinca Syndrome
Lymphadenopathy, Splenomegaly ORPHA:1451
Aniridia 1
Corneal neovascularization, Ectopia pupillae, Opacification of the corneal stroma, Hypoplasia of ... OMIM:106210
Hereditary Amyloidosis With Primary Renal Involvement
Hepatosplenomegaly, Lymphadenopathy, Abnormality of the lymph nodes ORPHA:85450
Lymphoproliferative Syndrome 1
Lymphadenopathy, Splenomegaly OMIM:613011
Mixed Connective Tissue Disease
Keratoconjunctivitis sicca, Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly ORPHA:809
Pancreatoblastoma
Abnormality of the lymph nodes ORPHA:677
Gamma-Heavy Chain Disease
Lymphadenopathy, Splenomegaly ORPHA:100026
Castleman Disease
Generalized lymphadenopathy, Lymphadenopathy, Mediastinal lymphadenopathy, Follicular hyperplasia ORPHA:160
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Hepatosplenomegaly, Lymphadenopathy ORPHA:169154
Farber Disease
Corneal opacity, Hepatosplenomegaly, Opacification of the corneal stroma, Abnormal conjunctiva mo... ORPHA:333
Immunodeficiency, Common Variable, 8, With Autoimmunity
Generalized lymphadenopathy, Lymphadenopathy, Conjunctivitis, Splenomegaly OMIM:614700
Hemophagocytic Lymphohistiocytosis, Familial, 1
Ataxia, Lymphadenopathy, Splenomegaly OMIM:267700
Proteasome-Associated Autoinflammatory Syndrome 3
Lymphadenopathy, Conjunctivitis, Splenomegaly OMIM:617591
Macrophage Activation Syndrome
Lymphadenopathy, Splenomegaly ORPHA:158061
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hepatosplenomegaly, Ataxia, Lymphadenopathy, Splenomegaly OMIM:603553
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hepatosplenomegaly, Lymphadenopathy, Enlarged tonsils OMIM:606367
Cutaneous Neuroendocrine Carcinoma
Chronic noninfectious lymphadenopathy ORPHA:79140
Lig4 Syndrome
Lymphadenopathy ORPHA:99812
Familial Hemophagocytic Lymphohistiocytosis
Lymphadenopathy, Splenomegaly ORPHA:540
Immunodeficiency With Hyper-Igm, Type 1
Enlarged tonsils, Absence of lymph node germinal center, Splenomegaly OMIM:308230
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Lymphadenopathy OMIM:304790
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Generalized lymphadenopathy, Lymphadenitis, Hepatosplenomegaly OMIM:618986
Kikuchi-Fujimoto Disease
Ataxia, Splenomegaly, Cervical lymphadenopathy, Abnormality of the lymph nodes, Generalized lymph... ORPHA:50918
Aregenerative Anemia
Bone marrow hypocellularity, Lymphadenopathy ORPHA:101096
Acute Interstitial Pneumonia
Lymphadenopathy ORPHA:79126
Tangier Disease
Chronic noninfectious lymphadenopathy, Hepatosplenomegaly, Orange discolored tonsils, Corneal opa... ORPHA:31150
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Lymphadenitis, Lymphadenopathy, Splenomegaly OMIM:615895
Waldenström Macroglobulinemia
Ataxia, Lymphadenopathy, Splenomegaly ORPHA:33226
Hyper-Igd Syndrome
Hepatosplenomegaly, Lymphadenitis, Lymphadenopathy, Splenomegaly OMIM:260920
Agammaglobulinemia, X-Linked
Lymph node hypoplasia, Conjunctivitis OMIM:300755
Pulmonary Capillary Hemangiomatosis
Lymphadenopathy, Mediastinal lymphadenopathy ORPHA:199241
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Lymphadenitis, Lymphadenopathy, Splenomegaly OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Lymphadenitis, Lymphadenopathy, Splenomegaly OMIM:233710
Chédiak-Higashi Syndrome
Ataxia, Inability to walk, Splenomegaly, Hepatosplenomegaly, Gait disturbance, Iris hypopigmentat... ORPHA:167
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Lymphadenopathy OMIM:617099
Histiocytosis-Lymphadenopathy Plus Syndrome
Splenomegaly, Cervical lymphadenopathy, Hepatosplenomegaly, Lymphadenopathy, Corneal arcus OMIM:602782
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Lymphadenitis, Lymphadenopathy, Splenomegaly OMIM:233690
H Syndrome
Hepatosplenomegaly, Lymphadenopathy, Corneal arcus ORPHA:168569
Malt Lymphoma
Lymphadenopathy, Mediastinal lymphadenopathy ORPHA:52417
Pediatric Systemic Lupus Erythematosus
Lymphadenopathy ORPHA:93552
Carney Triad
Lymphadenopathy, Mediastinal lymphadenopathy ORPHA:139411
Acute Promyelocytic Leukemia
Lymphadenopathy ORPHA:520
Lymphatic Filariasis
Lymphangiectasis, Lymphadenitis, Lymphadenopathy, Abnormality of the lymphatic system ORPHA:2035
Drug Reaction With Eosinophilia And Systemic Symptoms
Lymphadenopathy ORPHA:139402
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatosplenomegaly, Absence of lymph node germinal center ORPHA:79124
Graft Versus Host Disease
Hepatosplenomegaly, Lymphadenopathy ORPHA:39812
Immunodeficiency 55
Lymphadenopathy OMIM:617827
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Ataxia, Splenomegaly, Hepatosplenomegaly, Bone marrow hypocellularity, Lymphadenopathy OMIM:615688
Behçet Disease
Ataxia, Splenomegaly, Gait disturbance, Cataract, Keratoconjunctivitis sicca, Lymphadenopathy ORPHA:117
Familial Pancreatic Carcinoma
Hepatosplenomegaly, Lymphadenopathy ORPHA:1333
Selective Igm Deficiency
Keratitis, Lymphadenitis, Lymphadenopathy ORPHA:331235
Systemic Mastocytosis With Associated Hematologic Neoplasm
Lymphadenopathy, Splenomegaly ORPHA:98849
Poems Syndrome
Lymphadenopathy ORPHA:2905
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Absent peripheral lymph nodes in presence of infection OMIM:600802
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Polysplenia, Lymphadenopathy, Splenomegaly OMIM:619418
Q Fever
Hepatosplenomegaly, Lymphadenopathy, Splenomegaly ORPHA:781
Granulomatous Disease, Chronic, X-Linked
Lymphadenitis, Lymphadenopathy, Splenomegaly OMIM:306400
Common Variable Immunodeficiency
Lymphadenopathy, Splenomegaly ORPHA:1572
Thymic Aplasia
Lymphadenopathy, Aplasia of the thymus ORPHA:83471
Cherubism
Submandibular lymph node enlargement OMIM:118400
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Lymphadenopathy, Conjunctivitis, Splenomegaly ORPHA:32960
Spondyloenchondrodysplasia With Immune Dysregulation
Lymphadenopathy OMIM:607944
Autoimmune Lymphoproliferative Syndrome
Splenomegaly, Chronic noninfectious lymphadenopathy, Bone marrow hypocellularity, Lymphadenopathy... ORPHA:3261
Multiple Myeloma
Lymphadenopathy, Splenomegaly ORPHA:29073
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Hepatosplenomegaly, Lymphadenopathy ORPHA:85408
X-Linked Lymphoproliferative Disease
Enlarged tonsils, Splenomegaly, Cervical lymphadenopathy, Hepatosplenomegaly, Bone marrow hypocel... ORPHA:2442
Hennekam Syndrome
Pulmonary lymphangiectasia, Lymphangioma, Lymphadenopathy, Splenomegaly ORPHA:2136
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Lymphadenopathy, Splenomegaly ORPHA:37042
Lymphangioleiomyomatosis
Pulmonary lymphangiomyomatosis, Lymphadenopathy, Abnormality of the lymphatic system ORPHA:538
African Trypanosomiasis
Keratitis, Akinesia, Splenomegaly, Iritis, Hepatosplenomegaly, Gait disturbance, Difficulty walki... ORPHA:3385
Coccidioidomycosis
Abnormality of the spleen, Lymphadenopathy, Mediastinal lymphadenopathy ORPHA:228123
Adenocarcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424016
Sarcoidosis
Abnormality of the lymph nodes, Abnormal conjunctiva morphology, Cataract, Keratoconjunctivitis s... ORPHA:797
Ileal Neuroendocrine Tumor
Lymphadenopathy ORPHA:100078
Jejunal Neuroendocrine Tumor
Lymphadenopathy ORPHA:100077
Familial Mediterranean Fever
Lymphadenopathy, Splenomegaly ORPHA:342
Blau Syndrome
Keratitis, Lymphadenopathy, Cataract, Splenomegaly ORPHA:90340
Chikungunya
Cervical lymphadenopathy, Lymphadenopathy ORPHA:324625
Duodenal Neuroendocrine Tumor
Lymphadenopathy ORPHA:100076
Proteasome-Associated Autoinflammatory Syndrome 1
Punctate opacification of the cornea, Lymphadenopathy, Conjunctivitis, Splenomegaly OMIM:256040
Primary Sjögren Syndrome
Corneal perforation, Keratoconjunctivitis sicca, Lymphadenopathy ORPHA:289390
Autosomal Recessive Malignant Osteopetrosis
Lymphadenopathy, Splenomegaly ORPHA:667
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
Lymphadenopathy, Hypersplenism, Splenomegaly ORPHA:1304
Igg4-Related Kidney Disease
Lymphadenitis, Lymphadenopathy ORPHA:449395
Crimean-Congo Hemorrhagic Fever
Lymphadenopathy, Conjunctivitis, Splenomegaly ORPHA:99827
Marburg Hemorrhagic Fever
Lymphadenopathy, Conjunctival hyperemia ORPHA:99826
Immunodeficiency 82 With Systemic Inflammation
Follicular hyperplasia, Lymphadenopathy, Splenomegaly OMIM:619381
Leptospirosis
Lymphadenopathy, Conjunctival hyperemia ORPHA:509
Cushing Syndrome Due To Ectopic Acth Secretion
Neoplasm of the thymus, Abnormality of the lymph nodes ORPHA:99889

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

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

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Rnpepl1.

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

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

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