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
abnormal lymph node morphology Rnpepl1em1(IMPC)Mbp HOM Early adult 0.00
cataract Rnpepl1em1(IMPC)Mbp HOM Early adult 8.79×10-05
enlarged lymph nodes Rnpepl1em1(IMPC)Mbp HOM Early adult 0.00
increased vertical activity Rnpepl1em1(IMPC)Mbp HOM Early adult 1.93×10-05

Download data as:  TSV  XLS

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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

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
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormality of the lymph nodes OMIM:136580
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract, Ataxia ORPHA:1397
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
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Spinocerebellar Ataxia, Autosomal Recessive 24
Gait ataxia, Limb ataxia, Cataract, Spastic gait OMIM:617133
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center OMIM:235550
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Aniridia 3
Cataract OMIM:617142
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Granular corneal dystrophy, Nodular corneal dystrophy, Cataract OMIM:121900
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Follicular hyperplasia ORPHA:60026
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
Dysequilibrium Syndrome
Cataract, Ataxia, Gait disturbance ORPHA:1766
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Immunodeficiency 75
Follicular hyperplasia, Hepatosplenomegaly, Lymphadenopathy OMIM:619126
Kerion Celsi
Lymphadenopathy ORPHA:499
Trichomegaly
Cataract OMIM:190330
Spastic Paraparesis-Deafness Syndrome
Cataract, Ataxia, Gait disturbance ORPHA:2815
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract OMIM:300719
Nathalie Syndrome
Cataract ORPHA:2663
Cataract-Microcornea Syndrome
Corneal dystrophy, Microcornea, Cataract, Corneal opacity, Iris coloboma ORPHA:1377
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Pupillary Membrane, Persistence Of
Developmental cataract, Megalocornea, Persistent pupillary membrane OMIM:178900
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy, Conjunctivitis OMIM:617772
Thanatophoric Dysplasia, Glasgow Variant
Cataract, Hepatosplenomegaly OMIM:273680
Kimura Disease
Follicular hyperplasia, Lymphadenopathy ORPHA:482
Galactosemia Iv
Cataract OMIM:618881
Immunodeficiency 7
Lymphadenopathy OMIM:615387
Microphthalmia, Isolated, With Cataract 1
Cataract OMIM:156850
Immunodeficiency 104
Splenomegaly, Lymphadenopathy OMIM:608971
Cataract 9, Multiple Types
Developmental cataract, Microcornea, Cataract, Progressive cataract, Iris coloboma OMIM:604219
Megalocornea
Corneal arcus, Iridodonesis, Cataract, Astigmatism, Lens subluxation, Mosaic corneal dystrophy, D... OMIM:309300
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Genetic Hyperferritinemia Without Iron Overload
Cataract ORPHA:254704
Cataract 1, Multiple Types
Developmental cataract, Microcornea, Pulverulent cataract, Nuclear cataract, Posterior subcapsula... OMIM:116200
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Splenomegaly, Lymphadenopathy OMIM:618495
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Anterior Segment Dysgenesis 8
Uveal ectropion, Iridodonesis, Persistent pupillary membrane, Hypoplasia of the iris, Cataract, I... OMIM:617319
Galactosemia Ii
Cataract OMIM:230200
Morm Syndrome
Cataract, Hyperactivity ORPHA:75858
Fish-Eye Disease
Corneal opacity, Splenomegaly, Lymphadenopathy ORPHA:79292
Carcinoma Of Esophagus
Lymphadenopathy ORPHA:70482
Autoinflammation With Episodic Fever And Lymphadenopathy
Lymphadenopathy, Splenomegaly, Recurrent tonsillitis OMIM:618852
Mast Cell Sarcoma
Mediastinal lymphadenopathy, Splenomegaly, Lymphadenopathy ORPHA:66661
Pellagra-Like Syndrome
Cataract, Ataxia OMIM:260650
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Exfoliation Syndrome
Pseudoexfoliation, Abnormality of the lens, Cataract, Phakodonesis, Lens subluxation, Iris hypope... OMIM:177650
Cataract 15, Multiple Types
Developmental cataract, Cataract, Cortical cataract, Nuclear cataract, Lamellar cataract OMIM:615274
Hodgkin Lymphoma
Ataxia, Splenomegaly, Lymphadenopathy ORPHA:98293
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Cochleosaccular Degeneration-Cataract Syndrome
Cataract, Ataxia ORPHA:3233
Cataract 47
Microcornea, Cataract OMIM:612018
Galactose Epimerase Deficiency
Cataract, Splenomegaly ORPHA:79238
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Splenomegaly, Lymphadenopathy ORPHA:444463
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:86893
Follicular Lymphoma
Mediastinal lymphadenopathy, Splenomegaly, Lymphadenopathy ORPHA:545
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Persistent pupillary membrane OMIM:225200
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Lymphadenopathy OMIM:618261
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1
Dysmetria, Cataract, Gait ataxia, Dysdiadochokinesis, Truncal ataxia, Broad-based gait OMIM:224050
Mevalonic Aciduria
Cataract, Splenomegaly, Ataxia ORPHA:29
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Absent tonsils, Lymph node hypoplasia, Aplasia of the thymus OMIM:602450
Cataract 10, Multiple Types
Developmental cataract, Zonular cataract, Posterior Y-sutural cataract OMIM:600881
Nathalie Syndrome
Cataract OMIM:255990
Granulomatous Slack Skin
Abnormality of the lymph nodes ORPHA:33111
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Lymphadenopathy OMIM:615895
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Abnormality of the lymph nodes, Chronic noninfectious lymphadenopathy ORPHA:97290
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy OMIM:608106
Aniridia-Intellectual Disability Syndrome
Cataract, Aniridia, Ectopia lentis ORPHA:1068
Familial Papillary Or Follicular Thyroid Carcinoma
Abnormality of the lymph nodes, Chronic noninfectious lymphadenopathy ORPHA:319487
Cataract 11, Multiple Types
Cataract OMIM:610623
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Immunodeficiency 103, Susceptibility To Fungal Infections
Lymphadenopathy OMIM:212050
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy OMIM:618987
Coats Disease
Cataract, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris ORPHA:190
Immunodeficiency 76
Splenomegaly, Lymphadenopathy OMIM:619164
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Cataract 3, Multiple Types
Sutural cataract, Nuclear pulverulent cataract, Developmental cataract, Cerulean cataract OMIM:601547
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, Persistent pupillary membrane ORPHA:1067
Anterior Segment Dysgenesis 7
Sclerocornea, Microcornea, Cataract, Ocular anterior segment dysgenesis, Buphthalmos OMIM:269400
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Hemophagocytic Lymphohistiocytosis, Familial, 4
Splenomegaly, Lymphadenopathy, Conjunctivitis OMIM:603552
Aniridia 2
Cataract, Aniridia OMIM:617141
Immunodeficiency 14A, Autosomal Dominant
Splenomegaly, Lymphadenopathy OMIM:615513
Immunodeficiency, Common Variable, 2
Follicular hyperplasia, Splenomegaly, Lymphadenopathy, Conjunctivitis OMIM:240500
Immunodeficiency 72 With Autoinflammation
Hepatosplenomegaly, Lymphadenopathy OMIM:618982
Peters Anomaly
Subcapsular cataract, Anterior synechiae of the anterior chamber, Developmental glaucoma, Peters ... ORPHA:708
Rosaï-Dorfman Disease
Lymphadenopathy ORPHA:158014
Mu-Heavy Chain Disease
Splenomegaly, Lymphadenopathy ORPHA:100024
Immunodeficiency 55
Lymphadenopathy OMIM:617827
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Lymphadenopathy OMIM:619220
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center OMIM:606843
Leber Congenital Amaurosis 6
Keratoconus, Cataract OMIM:613826
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Lens subluxation OMIM:614292
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100083
Burkitt Lymphoma
Abnormality of the lymph nodes, Abnormality of the spleen ORPHA:543
Cataract 5, Multiple Types
Zonular cataract, Pulverulent cataract, Nuclear cataract, Anterior polar cataract, Lamellar cataract OMIM:116800
Proximal Myotonic Myopathy
Cataract ORPHA:606
Usher Syndrome Type 3
Cataract, Astigmatism, Ataxia, Iris hypopigmentation ORPHA:231183
Autosomal Dominant Keratitis
Microcornea, Cataract, Aniridia, Abnormality of the corneal limbus, Hypoplastic iris stroma, Kera... ORPHA:2334
Alpha-Heavy Chain Disease
Splenomegaly, Lymphadenopathy ORPHA:100025
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Cataract OMIM:619082
Immunodeficiency 64
Hepatosplenomegaly, Splenomegaly, Cervical lymphadenopathy, Lymphadenopathy, Mediastinal lymphade... OMIM:618534
Classic Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly, Bone marrow hypocellularity, Ataxia ORPHA:391
Amoebic Keratitis
Corneal ulceration, Abnormal anterior chamber morphology, Abnormal cornea morphology, Corneal per... ORPHA:67043
Pfapa Syndrome
Splenomegaly, Lymphadenopathy ORPHA:42642
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hepatosplenomegaly, Lymphadenopathy, Splenomegaly OMIM:613101
Immunodeficiency 52
Splenomegaly, Lymphadenopathy OMIM:617514
Spastic Paraplegia 26, Autosomal Recessive
Dysmetria, Spastic gait, Cataract, Ataxia, Tip-toe gait, Difficulty walking OMIM:609195
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Mediastinal lymphadenopathy, Splenomegaly, Lymphadenopathy OMIM:300853
Immunodeficiency With Hyper-Igm, Type 4
Absence of lymph node germinal center OMIM:608184
Anterior Segment Dysgenesis 2
Sclerocornea, Microcornea, Cataract, Congenital aphakia, Peters anomaly, Anterior segment of eye ... OMIM:610256
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Cataract, Inability to walk, Splenomegaly, Ataxia OMIM:608885
Proteasome-Associated Autoinflammatory Syndrome 2
Lymphadenopathy OMIM:618048
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Retinitis Pigmentosa 84
Cataract OMIM:618220
Autoimmune Lymphoproliferative Syndrome, Type Iii
Hepatosplenomegaly, Splenomegaly, Generalized lymphadenopathy, Follicular hyperplasia, Lymphadeno... OMIM:615559
Nephroblastoma
Aniridia, Lymphadenopathy ORPHA:654
Immunodeficiency 10
Lymphadenopathy, Hypoplasia of the iris OMIM:612783
Immunodeficiency, Common Variable, 1
Splenomegaly, Lymphadenopathy, Conjunctivitis OMIM:607594
Immunodeficiency 27A
Enlarged mesenteric lymph node, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy OMIM:209950
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absence of lymph node germinal center, Absent tonsils ORPHA:277
Leukocyte Adhesion Deficiency, Type Iii
Abnormality of the lymph nodes, Hepatosplenomegaly, Splenomegaly OMIM:612840
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Dysmetria, Cataract, Progressive cerebellar ataxia, Truncal ataxia, Tortuosity of conjunctival ve... ORPHA:284289
Isolated Aniridia
Cataract, Aniridia, Peters anomaly ORPHA:250923
Tularemia
Abnormal nasopharyngeal adenoid morphology, Cervical lymphadenopathy, Lymphadenopathy, Mediastina... ORPHA:3392
Anterior Segment Dysgenesis 1
Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacification of the corneal str... OMIM:107250
Peroxisome Biogenesis Disorder 9B
Cataract, Ataxia OMIM:614879
Classic Mycosis Fungoides
Splenomegaly, Lymphadenopathy ORPHA:2584
Heme Oxygenase 1 Deficiency
Lymphadenopathy, Chemosis, Cervical lymphadenopathy, Asplenia OMIM:614034
Pseudomyxoma Peritonei
Lymphadenopathy ORPHA:26790
Schnitzler Syndrome
Splenomegaly, Lymphadenopathy ORPHA:37748
Caspase 8 Deficiency
Splenomegaly, Lymphadenopathy OMIM:607271
Griscelli Syndrome Type 2
Splenomegaly, Lymphadenopathy, Iris hypopigmentation ORPHA:79477
Familial Cold Autoinflammatory Syndrome 2
Splenomegaly, Lymphadenopathy OMIM:611762
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
Pleural Mesothelioma
Lymphadenopathy ORPHA:50251
Griscelli Syndrome
Bone marrow hypocellularity, Splenomegaly, Ataxia, Lymphadenopathy, Iris hypopigmentation ORPHA:381
Cold Agglutinin Disease
Splenomegaly, Lymphadenopathy ORPHA:56425
Indolent Systemic Mastocytosis
Splenomegaly, Lymphadenopathy ORPHA:98848
Cataract 30, Multiple Types
Pulverulent cataract, Posterior polar cataract, Diffuse nuclear cataract OMIM:116300
Immunodeficiency 54
Splenomegaly, Lymphadenopathy OMIM:609981
Congenital Toxoplasmosis
Lymphadenopathy ORPHA:858
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Splenomegaly, Lymphadenopathy OMIM:619375
Middle Ear Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100084
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Splenomegaly, Lymphadenopathy OMIM:150550
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormality of the lymph nodes, Abnormality of the lymphatic system ORPHA:54251
Systemic-Onset Juvenile Idiopathic Arthritis
Splenomegaly, Lymphadenopathy ORPHA:85414
Cataract 31, Multiple Types
Anterior subcapsular cataract, Posterior subcapsular cataract, Nuclear cataract OMIM:605387
Ras-Associated Autoimmune Leukoproliferative Disorder
Follicular hyperplasia, Splenomegaly OMIM:614470
Vitreoretinal Degeneration, Snowflake Type
Corneal guttata, Cataract OMIM:193230
Lymphoproliferative Syndrome 2
Hepatosplenomegaly, Splenomegaly, Lymphadenopathy OMIM:615122
Blindness-Scoliosis-Arachnodactyly Syndrome
Cataract, Lens subluxation, Microphakia ORPHA:171844
Meige Disease
Absence of lymph node germinal center, Lymph node hypoplasia ORPHA:90186
Norrie Disease
Cataract, Shallow anterior chamber, Opacification of the corneal stroma, Hypoplasia of the iris OMIM:310600
Mevalonic Aciduria
Hepatosplenomegaly, Cataract, Fluctuating splenomegaly, Ataxia, Progressive cerebellar ataxia, Ly... OMIM:610377
Cinca Syndrome
Hepatosplenomegaly, Lymphadenopathy OMIM:607115
Omenn Syndrome
Hypoplasia of the thymus, Splenomegaly, Lymphadenopathy OMIM:603554
Rhabdoid Tumor
Lymphadenopathy ORPHA:69077
Purine Nucleoside Phosphorylase Deficiency
Lymph node hypoplasia, Splenomegaly, Ataxia OMIM:613179
Combined Immunodeficiency Due To Zap70 Deficiency
Abnormality of the lymph nodes, Lymphadenitis, Hepatosplenomegaly, Lymphadenopathy ORPHA:911
Acquired Hypertrichosis Lanuginosa
Lymphadenopathy ORPHA:2221
Roifman Syndrome
Splenomegaly, Lymphadenopathy OMIM:616651
Roifman Syndrome
Hepatosplenomegaly, Lymphadenopathy ORPHA:353298
Cataract 33, Multiple Types
Lamellar cataract, Cortical cataract, Nuclear cataract OMIM:611391
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Lymphadenopathy ORPHA:69126
Thyroid Lymphoma
Lymphadenopathy ORPHA:97285
Niemann-Pick Disease, Type A
Athetosis, Inability to walk, Splenomegaly, Lymphadenopathy OMIM:257200
Combined Immunodeficiency Due To Crac Channel Dysfunction
Splenomegaly, Lymphadenopathy, Hypoplasia of the iris ORPHA:169090
Autoimmune Lymphoproliferative Syndrome
Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Splenomegaly OMIM:601859
Isolated Ectopia Lentis
Cataract, Ectopia pupillae, Ectopia lentis ORPHA:1885
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hepatosplenomegaly, Lymphadenitis, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618935
Coloboma, Ocular, Autosomal Recessive
Cataract, Lens subluxation, Iris coloboma OMIM:216820
Squamous Cell Carcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424019
Lymphoproliferative Syndrome, X-Linked, 1
Splenomegaly, Lymphadenopathy OMIM:308240
Deafness-Lymphedema-Leukemia Syndrome
Lymphadenopathy, Splenomegaly, Bone marrow hypocellularity ORPHA:3226
Desmoplastic Small Round Cell Tumor
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:83469
Leishmaniasis
Splenomegaly, Lymphadenopathy ORPHA:507
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Absent tonsils, Lymph node hypoplasia ORPHA:276
Proteasome-Associated Autoinflammatory Syndrome 4
Splenomegaly, Lymphadenopathy OMIM:619183
Boutonneuse Fever
Lymphadenopathy, Cervical lymphadenopathy ORPHA:83313
Klatskin Tumor
Lymphadenopathy ORPHA:99978
Hypocomplementemic Urticarial Vasculitis
Ataxia, Splenomegaly, Lymphadenopathy, Conjunctivitis ORPHA:36412
Autoimmune Lymphoproliferative Syndrome, Type Iia
Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Splenomegaly, Lymphadenopathy OMIM:603909
Sézary Syndrome
Splenomegaly, Lymphadenopathy ORPHA:3162
Hyperimmunoglobulinemia D With Periodic Fever
Ataxia, Lymphadenopathy ORPHA:343
Chediak-Higashi Syndrome
Splenomegaly, Ataxia, Ocular albinism, Lymphadenopathy, Iris hypopigmentation, Gait disturbance OMIM:214500
Pulmonary Non-Tuberculous Mycobacterial Infection
Lymphadenopathy ORPHA:411703
Medullary Thyroid Carcinoma
Lymphadenopathy ORPHA:1332
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphadenopathy OMIM:617718
Melkersson-Rosenthal Syndrome
Lymphadenopathy ORPHA:2483
Immunodeficiency 91 And Hyperinflammation
Hepatosplenomegaly, Lymphadenopathy OMIM:619644
American Trypanosomiasis
Splenomegaly, Lymphadenopathy ORPHA:3386
Cyclic Neutropenia
Lymphadenopathy, Cervical lymphadenopathy, Recurrent tonsillitis ORPHA:2686
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Shallow anterior chamber, Persistent pupillary membrane, Microcornea, Cataract, Corneal opacity, ... OMIM:221900
Scrub Typhus
Splenomegaly, Lymphadenopathy ORPHA:83317
Primary Myelofibrosis
Hepatosplenomegaly, Splenomegaly, Lymphadenopathy ORPHA:824
Anaplastic Thyroid Carcinoma
Lymphadenopathy ORPHA:142
Legionnaires Disease
Lymphadenopathy, Splenomegaly, Bone marrow hypocellularity, Ataxia ORPHA:549
Periodic Fever, Familial, Autosomal Dominant
Conjunctival hyperemia, Cervical lymphadenopathy, Conjunctivitis OMIM:142680
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Splenomegaly, Lymphadenopathy OMIM:616100
Pancreatoblastoma
Abnormality of the lymph nodes ORPHA:677
Aniridia 1
Anterior subcapsular cataract, Hypoplasia of the iris, Cataract, Aniridia, Ectopia pupillae, Opac... OMIM:106210
Thymic Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Mediastinal lymphadenopathy, Neoplasm of the thymus ORPHA:97289
Diffuse Cutaneous Mastocytosis
Lymphadenopathy, Abnormality of the spleen ORPHA:79456
Aggressive Systemic Mastocytosis
Hypersplenism, Hepatosplenomegaly, Lymphadenopathy ORPHA:98850
Omenn Syndrome
Splenomegaly, Lymphadenopathy ORPHA:39041
Felty Syndrome
Lymphadenopathy, Splenomegaly, Bone marrow hypocellularity ORPHA:47612
Cinca Syndrome
Splenomegaly, Lymphadenopathy ORPHA:1451
Hereditary Amyloidosis With Primary Renal Involvement
Abnormality of the lymph nodes, Hepatosplenomegaly, Lymphadenopathy ORPHA:85450
Castleman Disease
Mediastinal lymphadenopathy, Follicular hyperplasia, Generalized lymphadenopathy, Lymphadenopathy ORPHA:160
Mixed Connective Tissue Disease
Keratoconjunctivitis sicca, Mediastinal lymphadenopathy, Splenomegaly, Lymphadenopathy ORPHA:809
Autoimmune Polyendocrine Syndrome, Type Ii
Band keratopathy, Thymoma, Cataract, Asplenia, Keratoconjunctivitis OMIM:269200
Gamma-Heavy Chain Disease
Splenomegaly, Lymphadenopathy ORPHA:100026
Lymphoproliferative Syndrome 1
Splenomegaly, Lymphadenopathy OMIM:613011
Immunodeficiency With Hyper-Igm, Type 1
Absence of lymph node germinal center, Splenomegaly, Enlarged tonsils OMIM:308230
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Hepatosplenomegaly, Lymphadenopathy ORPHA:169154
Polycystic Kidney, Cataract, And Congenital Blindness
Cataract, Microcoria OMIM:263100
Macrophage Activation Syndrome
Splenomegaly, Lymphadenopathy ORPHA:158061
Immunodeficiency, Common Variable, 8, With Autoimmunity
Splenomegaly, Lymphadenopathy, Conjunctivitis, Generalized lymphadenopathy OMIM:614700
Hemophagocytic Lymphohistiocytosis, Familial, 1
Ataxia, Splenomegaly, Lymphadenopathy OMIM:267700
Cutaneous Neuroendocrine Carcinoma
Chronic noninfectious lymphadenopathy ORPHA:79140
Farber Disease
Hepatosplenomegaly, Abnormal conjunctiva morphology, Corneal opacity, Lymphadenopathy, Opacificat... ORPHA:333
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hepatosplenomegaly, Enlarged tonsils, Lymphadenopathy OMIM:606367
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hepatosplenomegaly, Ataxia, Splenomegaly, Lymphadenopathy OMIM:603553
Proteasome-Associated Autoinflammatory Syndrome 3
Splenomegaly, Lymphadenopathy, Conjunctivitis OMIM:617591
Oculoauricular Syndrome
Developmental cataract, Sclerocornea, Microcornea, Cataract, Posterior embryotoxon, Ocular anteri... OMIM:612109
Persistent Hyperplastic Primary Vitreous
Shallow anterior chamber, Developmental cataract, Persistent pupillary membrane, Microcornea, Cat... ORPHA:91495
Autosomal Dominant Optic Atrophy And Cataract
Anterior subcapsular cataract, Anterior cortical cataract, Cataract, Ataxia, Cerulean cataract, U... ORPHA:67036
Lig4 Syndrome
Lymphadenopathy ORPHA:99812
Tangier Disease
Chronic noninfectious lymphadenopathy, Corneal opacity, Hepatosplenomegaly, Orange discolored ton... ORPHA:31150
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Lymphadenopathy OMIM:304790
Aregenerative Anemia
Lymphadenopathy, Bone marrow hypocellularity ORPHA:101096
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Hepatosplenomegaly, Lymphadenitis, Generalized lymphadenopathy OMIM:618986
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Lymphadenitis, Splenomegaly, Lymphadenopathy OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Lymphadenitis, Splenomegaly, Lymphadenopathy OMIM:233710
Hyper-Igd Syndrome
Hepatosplenomegaly, Lymphadenitis, Splenomegaly, Lymphadenopathy OMIM:260920
Pulmonary Capillary Hemangiomatosis
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:199241
Acute Interstitial Pneumonia
Lymphadenopathy ORPHA:79126
Familial Hemophagocytic Lymphohistiocytosis
Splenomegaly, Lymphadenopathy ORPHA:540
Agammaglobulinemia, X-Linked
Lymph node hypoplasia, Conjunctivitis OMIM:300755
Waldenström Macroglobulinemia
Ataxia, Splenomegaly, Lymphadenopathy ORPHA:33226
Kikuchi-Fujimoto Disease
Splenomegaly, Cervical lymphadenopathy, Generalized lymphadenopathy, Ataxia, Lymphadenopathy, Abn... ORPHA:50918
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Lymphadenitis, Splenomegaly, Lymphadenopathy OMIM:233690
Malt Lymphoma
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:52417
Chédiak-Higashi Syndrome
Hepatosplenomegaly, Inability to walk, Splenomegaly, Ataxia, Lymphadenopathy, Iris hypopigmentati... ORPHA:167
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Lymphadenopathy OMIM:617099
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatosplenomegaly, Corneal arcus, Splenomegaly, Cervical lymphadenopathy, Lymphadenopathy OMIM:602782
H Syndrome
Corneal arcus, Hepatosplenomegaly, Lymphadenopathy ORPHA:168569
Carney Triad
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:139411
Pediatric Systemic Lupus Erythematosus
Lymphadenopathy ORPHA:93552
Lymphatic Filariasis
Lymphangiectasis, Abnormality of the lymphatic system, Lymphadenitis, Lymphadenopathy ORPHA:2035
Drug Reaction With Eosinophilia And Systemic Symptoms
Lymphadenopathy ORPHA:139402
Acute Promyelocytic Leukemia
Lymphadenopathy ORPHA:520
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Absence of lymph node germinal center, Hepatosplenomegaly ORPHA:79124
Familial Pancreatic Carcinoma
Hepatosplenomegaly, Lymphadenopathy ORPHA:1333
Behçet Disease
Cataract, Splenomegaly, Ataxia, Keratoconjunctivitis sicca, Lymphadenopathy, Gait disturbance ORPHA:117
Graft Versus Host Disease
Hepatosplenomegaly, Lymphadenopathy ORPHA:39812
Selective Igm Deficiency
Keratitis, Lymphadenitis, Lymphadenopathy ORPHA:331235
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatosplenomegaly, Bone marrow hypocellularity, Splenomegaly, Ataxia, Lymphadenopathy OMIM:615688
Systemic Mastocytosis With Associated Hematologic Neoplasm
Splenomegaly, Lymphadenopathy ORPHA:98849
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Absent peripheral lymph nodes in presence of infection OMIM:600802
Poems Syndrome
Lymphadenopathy ORPHA:2905
Granulomatous Disease, Chronic, X-Linked
Lymphadenitis, Splenomegaly, Lymphadenopathy OMIM:306400
Common Variable Immunodeficiency
Splenomegaly, Lymphadenopathy ORPHA:1572
Q Fever
Hepatosplenomegaly, Splenomegaly, Lymphadenopathy ORPHA:781
Thymic Aplasia
Lymphadenopathy, Aplasia of the thymus ORPHA:83471
Cherubism
Submandibular lymph node enlargement OMIM:118400
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Polysplenia, Splenomegaly, Lymphadenopathy, Accessory spleen OMIM:619418
Spondyloenchondrodysplasia With Immune Dysregulation
Lymphadenopathy OMIM:607944
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Splenomegaly, Lymphadenopathy, Conjunctivitis ORPHA:32960
Multiple Myeloma
Splenomegaly, Lymphadenopathy ORPHA:29073
Gallbladder Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100086
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Hepatosplenomegaly, Lymphadenopathy ORPHA:85408
Lymphangioleiomyomatosis
Abnormality of the lymphatic system, Lymphadenopathy, Pulmonary lymphangiomyomatosis ORPHA:538
Autoimmune Lymphoproliferative Syndrome
Bone marrow hypocellularity, Splenomegaly, Chronic noninfectious lymphadenopathy, Lymphadenopathy... ORPHA:3261
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Splenomegaly, Lymphadenopathy ORPHA:37042
Hennekam Syndrome
Pulmonary lymphangiectasia, Lymphadenopathy, Lymphangioma, Splenomegaly ORPHA:2136
X-Linked Lymphoproliferative Disease
Hepatosplenomegaly, Bone marrow hypocellularity, Splenomegaly, Cervical lymphadenopathy, Enlarged... ORPHA:2442
Adenocarcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424016
Ileal Neuroendocrine Tumor
Lymphadenopathy ORPHA:100078
Jejunal Neuroendocrine Tumor
Lymphadenopathy ORPHA:100077
African Trypanosomiasis
Hepatosplenomegaly, Iritis, Splenomegaly, Akinesia, Lymphadenopathy, Gait disturbance, Keratitis,... ORPHA:3385
Coccidioidomycosis
Lymphadenopathy, Mediastinal lymphadenopathy, Abnormality of the spleen ORPHA:228123
Familial Mediterranean Fever
Splenomegaly, Lymphadenopathy ORPHA:342
Blau Syndrome
Keratitis, Cataract, Splenomegaly, Lymphadenopathy ORPHA:90340
Sarcoidosis
Abnormal conjunctiva morphology, Cataract, Keratoconjunctivitis sicca, Lymphadenopathy, Abnormali... ORPHA:797
Chikungunya
Lymphadenopathy, Cervical lymphadenopathy ORPHA:324625
Proteasome-Associated Autoinflammatory Syndrome 1
Splenomegaly, Lymphadenopathy, Conjunctivitis, Punctate opacification of the cornea OMIM:256040
Duodenal Neuroendocrine Tumor
Lymphadenopathy ORPHA:100076
Plague
Lymphadenitis, Splenomegaly, Unsteady gait, Enlarged mesenteric lymph node, Mydriasis, Conjunctiv... ORPHA:707
Primary Sjögren Syndrome
Corneal perforation, Keratoconjunctivitis sicca, Lymphadenopathy ORPHA:289390
Autosomal Recessive Malignant Osteopetrosis
Splenomegaly, Lymphadenopathy ORPHA:667
Igg4-Related Ophthalmic Disease
Keratitis, Lymphadenopathy ORPHA:449563
Igg4-Related Submandibular Gland Disease
Lymphadenopathy ORPHA:449432
Brucellosis
Hypersplenism, Splenomegaly, Lymphadenopathy ORPHA:1304
Igg4-Related Kidney Disease
Lymphadenitis, Lymphadenopathy ORPHA:449395
Igg4-Related Dacryoadenitis And Sialadenitis
Keratoconjunctivitis sicca, Lymphadenopathy ORPHA:79078
Crimean-Congo Hemorrhagic Fever
Splenomegaly, Lymphadenopathy, Conjunctivitis ORPHA:99827
Marburg Hemorrhagic Fever
Conjunctival hyperemia, Lymphadenopathy ORPHA:99826
Leptospirosis
Conjunctival hyperemia, Lymphadenopathy ORPHA:509
Immunodeficiency 82 With Systemic Inflammation
Follicular hyperplasia, Splenomegaly, Lymphadenopathy OMIM:619381
Cushing Syndrome Due To Ectopic Acth Secretion
Abnormality of the lymph nodes, 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.

There is no histopathology data for Rnpepl1

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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