Gene Summary

Name:
transformation related protein 53 inducible nuclear protein 2
Synonyms:
1110029F20Rik,  Tp53inp2

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 skin morphology Trp53inp2em1(IMPC)Mbp HOM Early adult 0.00
abnormal lymph node morphology Trp53inp2em1(IMPC)Mbp HOM Early adult 0.00
abnormal kidney morphology Trp53inp2em1(IMPC)Mbp HOM Early adult 0.00
abnormal eye morphology Trp53inp2em1(IMPC)Mbp HOM Early adult 0.00
enlarged lymph nodes Trp53inp2em1(IMPC)Mbp HOM Early adult 0.00
cataract Trp53inp2em1(IMPC)Mbp HOM   Early adult 7.53×10-07
small kidney Trp53inp2em1(IMPC)Mbp HOM Early adult 0.00
decreased prepulse inhibition Trp53inp2em1(IMPC)Mbp HOM   Early adult 3.85×10-05

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

27 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

Human diseases caused by Trp53inp2 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 Trp53inp2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency 32A
Lymphadenopathy OMIM:614893
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Apolipoprotein A-I Deficiency
Corneal opacity, Lymphadenopathy, Splenomegaly ORPHA:425
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center OMIM:235550
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Follicular hyperplasia ORPHA:60026
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract, Renal tubular dysfunction ORPHA:1380
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
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Kerion Celsi
Lymphadenopathy ORPHA:499
Immunodeficiency 75
Hepatosplenomegaly, Follicular hyperplasia, Lymphadenopathy OMIM:619126
Granulomatous Slack Skin
Acute kidney injury, Nephrocalcinosis, Abnormality of the lymph nodes ORPHA:33111
Galactosemia Ii
Cataract, Galactosuria OMIM:230200
Cataract-Microcornea Syndrome
Iris coloboma, Corneal opacity, Cataract, Microcornea, Corneal dystrophy ORPHA:1377
Lcat Deficiency
Hematuria, Corneal opacity, Splenomegaly, Renal insufficiency, Lymphadenopathy, Proteinuria ORPHA:650
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Lymphadenopathy, Splenomegaly OMIM:608971
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Conjunctivitis, Lymphadenopathy OMIM:617772
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Lymphadenopathy, Splenomegaly OMIM:618495
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Cataract 9, Multiple Types
Developmental cataract, Iris coloboma, Cataract, Microcornea, Progressive cataract OMIM:604219
Galactose Epimerase Deficiency
Cataract, Aminoaciduria, Splenomegaly ORPHA:79238
Carcinoma Of Esophagus
Lymphadenopathy ORPHA:70482
Thanatophoric Dysplasia, Glasgow Variant
Cataract, Hepatosplenomegaly OMIM:273680
Megalocornea
Decreased corneal thickness, Mosaic corneal dystrophy, Deep anterior chamber, Iridodonesis, Catar... OMIM:309300
T-Cell Receptor-Alpha/Beta Deficiency
Lymphadenopathy OMIM:615387
Mu-Heavy Chain Disease
Nephropathy, Bence Jones Proteinuria, Lymphadenopathy, Splenomegaly ORPHA:100024
Kimura Disease
Follicular hyperplasia, Lymphadenopathy ORPHA:482
Mast Cell Sarcoma
Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly ORPHA:66661
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Lymphadenopathy, Splenomegaly OMIM:618852
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphadenopathy, Splenomegaly ORPHA:444463
Cataract 47
Cataract, Microcornea, Glycosuria OMIM:612018
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:86893
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormality of the lymph nodes OMIM:136580
Autoimmune Lymphoproliferative Syndrome, Type Iii
Generalized lymphadenopathy, Follicular hyperplasia, Membranous nephropathy, Nephrotic syndrome, ... OMIM:615559
Follicular Lymphoma
Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly ORPHA:545
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Lymphadenopathy OMIM:615895
Fish-Eye Disease
Corneal opacity, Lymphadenopathy, Splenomegaly ORPHA:79292
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Chronic noninfectious lymphadenopathy, Abnormality of the lymph nodes ORPHA:97290
Anterior Segment Dysgenesis 8
Persistent pupillary membrane, Uveal ectropion, Ectopia lentis, Microphakia, Hypoplasia of the ir... OMIM:617319
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Lymphadenopathy OMIM:618261
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Familial Papillary Or Follicular Thyroid Carcinoma
Chronic noninfectious lymphadenopathy, Abnormality of the lymph nodes ORPHA:319487
Exfoliation Syndrome
Anisocoria, Pigment deposition in the trabecular meshwork, Cataract, Pseudoexfoliation, Abnormali... OMIM:177650
Hemophagocytic Lymphohistiocytosis, Familial, 4
Conjunctivitis, Lymphadenopathy, Splenomegaly OMIM:603552
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:98293
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Absent tonsils, Lymph node hypoplasia, Aplasia of the thymus OMIM:602450
Immunodeficiency 55
Lymphadenopathy OMIM:617827
Immunodeficiency, Common Variable, 2
Conjunctivitis, Follicular hyperplasia, Lymphadenopathy, Splenomegaly OMIM:240500
Candidiasis, Familial, 2
Lymphadenopathy OMIM:212050
Rosaï-Dorfman Disease
Lymphadenopathy ORPHA:158014
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
Band keratopathy, Cataract, Proximal renal tubular acidosis, Bicarbonate-wasting renal tubular ac... OMIM:604278
Immunodeficiency 72 With Autoinflammation
Hepatosplenomegaly, Lymphadenopathy OMIM:618982
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Hypospadias, Cataract, Aplasia/Hypoplasia of the lens, Hypoplasia of penis ORPHA:1381
Nephroblastoma
Aniridia, Hematuria, Lymphadenopathy ORPHA:654
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy OMIM:608106
Immunodeficiency 76
Lymphadenopathy, Splenomegaly OMIM:619164
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100083
Immunodeficiency 14A, Autosomal Dominant
Lymphadenopathy, Splenomegaly OMIM:615513
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:1067
Immunodeficiency 64
Splenomegaly, Mediastinal lymphadenopathy, Hepatosplenomegaly, Lymphadenopathy, Cervical lymphade... OMIM:618534
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hepatosplenomegaly, Lymphadenopathy, Splenomegaly OMIM:613101
Burkitt Lymphoma
Abnormality of the spleen, Abnormality of the lymph nodes ORPHA:543
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Lymphadenopathy OMIM:619220
Alpha-Heavy Chain Disease
Lymphadenopathy, Splenomegaly ORPHA:100025
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy OMIM:618987
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cataract, Ectopic kidney, Cystic renal dysplasia OMIM:613730
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly OMIM:300853
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center OMIM:606843
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Immunodeficiency 52
Lymphadenopathy, Splenomegaly OMIM:617514
Tularemia
Abnormal nasopharyngeal adenoid morphology, Cervical lymphadenopathy, Conjunctivitis, Mediastinal... ORPHA:3392
Immunodeficiency 27A
Enlarged mesenteric lymph node, Hepatosplenomegaly, Lymphadenopathy, Splenomegaly OMIM:209950
Autosomal Dominant Keratitis
Aniridia, Cataract, Keratitis, Microcornea, Opacification of the corneal stroma, Hypoplastic iris... ORPHA:2334
Pfapa Syndrome
Lymphadenopathy, Splenomegaly ORPHA:42642
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, Absence of lymph node germinal center ORPHA:277
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Glomerulonephritis, Lymphadenopathy, Splenomegaly OMIM:619375
Amoebic Keratitis
Decreased corneal sensation, Abnormal corneal epithelium morphology, Corneal perforation, Catarac... ORPHA:67043
Cold Agglutinin Disease
Abnormal urinary color, Lymphadenopathy, Splenomegaly ORPHA:56425
Immunodeficiency, Common Variable, 1
Conjunctivitis, Lymphadenopathy, Splenomegaly OMIM:607594
Classic Mycosis Fungoides
Lymphadenopathy, Splenomegaly ORPHA:2584
Leukocyte Adhesion Deficiency, Type Iii
Hepatosplenomegaly, Abnormality of the lymph nodes, Splenomegaly OMIM:612840
Cataract 15, Multiple Types
Developmental cataract, Nuclear cataract, Cataract, Lamellar cataract, Cortical cataract OMIM:615274
Proteasome-Associated Autoinflammatory Syndrome 2
Lymphadenopathy OMIM:618048
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Immunodeficiency 10
Hypoplasia of the iris, Lymphadenopathy OMIM:612783
Immunodeficiency With Hyper-Igm, Type 4
Absence of lymph node germinal center OMIM:608184
Anterior Segment Dysgenesis 7
Buphthalmos, Cataract, Ocular anterior segment dysgenesis, Microcornea, Sclerocornea OMIM:269400
Schnitzler Syndrome
Lymphadenopathy, Splenomegaly ORPHA:37748
Ectopia Lentis Et Pupillae
Cataract, Persistent pupillary membrane, Ectopia lentis OMIM:225200
Rhabdoid Tumor
Hematuria, Lymphadenopathy ORPHA:69077
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Splenomegaly OMIM:611762
Griscelli Syndrome Type 2
Iris hypopigmentation, Lymphadenopathy, Splenomegaly ORPHA:79477
Pleural Mesothelioma
Lymphadenopathy ORPHA:50251
Indolent Systemic Mastocytosis
Lymphadenopathy, Splenomegaly ORPHA:98848
Papillorenal Syndrome
Horseshoe kidney, Renal hypoplasia, Lens luxation, Multicystic kidney dysplasia, Cataract, Vesico... OMIM:120330
Caspase 8 Deficiency
Lymphadenopathy, Splenomegaly OMIM:607271
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Pseudomyxoma Peritonei
Lymphadenopathy ORPHA:26790
Oculoauricular Syndrome
Microphakia, Cataract, Ocular anterior segment dysgenesis, Microcornea, Sclerocornea OMIM:612109
Classic Hodgkin Lymphoma
Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly ORPHA:391
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphadenitis, Nephrotic syndrome, Hepatosplenomegaly, Abnormality of the lymph nodes, Lymphadeno... ORPHA:911
Peroxisome Biogenesis Disorder 10B
Neurogenic bladder, Cataract, Nephrocalcinosis OMIM:617370
Congenital Toxoplasmosis
Lymphadenopathy ORPHA:858
Alport Syndrome 2, Autosomal Recessive
Hematuria, Anterior lenticonus, Corneal erosion, Cataract, Stage 5 chronic kidney disease, Nephro... OMIM:203780
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Lymphadenopathy, Proteinuria ORPHA:69126
Anterior Segment Dysgenesis 2
Aniridia, Congenital aphakia, Anterior segment of eye aplasia, Cataract, Peters anomaly, Microcor... OMIM:610256
Immunodeficiency 54
Lymphadenopathy, Splenomegaly OMIM:609981
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent tonsillitis, Lymphadenitis, Nephrotic syndrome, Splenomegaly, Hepatosplenomegaly, Lymph... OMIM:618935
Lymphedema-Hypoparathyroidism Syndrome
Renal insufficiency, Cataract, Pulmonary lymphangiectasia, Nephropathy OMIM:247410
Lymphoproliferative Syndrome 2
Hepatosplenomegaly, Lymphadenopathy, Splenomegaly OMIM:615122
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Lymphadenopathy, Splenomegaly OMIM:150550
Boutonneuse Fever
Renal insufficiency, Lymphadenopathy, Cervical lymphadenopathy ORPHA:83313
Autoimmune Lymphoproliferative Syndrome, Type Iia
Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Splenomegaly, Nephrotic syndrome, ... OMIM:603909
Thymoma
Neoplasm of the thymus, Fatigable weakness, Keratoconjunctivitis sicca, Nephrotic syndrome, Lymph... ORPHA:99867
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Griscelli Syndrome
Iris hypopigmentation, Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly ORPHA:381
Ras-Associated Autoimmune Leukoproliferative Disorder
Follicular hyperplasia, Splenomegaly OMIM:614470
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Ectopia lentis ORPHA:1068
Roifman Syndrome
Hepatosplenomegaly, Lymphadenopathy ORPHA:353298
Roifman Syndrome
Lymphadenopathy, Splenomegaly OMIM:616651
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormality of the lymphatic system, Abnormality of the lymph nodes ORPHA:54251
Isolated Aniridia
Aniridia, Peters anomaly, Cataract ORPHA:250923
Cinca Syndrome
Hepatosplenomegaly, Lymphadenopathy OMIM:607115
Scrub Typhus
Renal insufficiency, Lymphadenopathy, Splenomegaly ORPHA:83317
Middle Ear Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100084
Mevalonic Aciduria
Nuclear cataract, Cataract, Elevated urine mevalonic acid, Hepatosplenomegaly, Fluctuating spleno... OMIM:610377
Hypocomplementemic Urticarial Vasculitis
Hematuria, Conjunctivitis, Splenomegaly, Renal insufficiency, Lymphadenopathy, Proteinuria ORPHA:36412
Aniridia 2
Cataract, Aniridia OMIM:617141
Omenn Syndrome
Hypoplasia of the thymus, Lymphadenopathy, Splenomegaly OMIM:603554
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly ORPHA:3226
Acquired Hypertrichosis Lanuginosa
Lymphadenopathy ORPHA:2221
Systemic-Onset Juvenile Idiopathic Arthritis
Lymphadenopathy, Splenomegaly ORPHA:85414
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Absent tonsils, Lymph node hypoplasia ORPHA:276
Autoimmune Lymphoproliferative Syndrome
Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Splenomegaly OMIM:601859
Thymic Neuroendocrine Tumor
Mediastinal lymphadenopathy, Calcium nephrolithiasis, Chronic noninfectious lymphadenopathy, Neop... ORPHA:97289
Melkersson-Rosenthal Syndrome
Oligosacchariduria, Lymphadenopathy ORPHA:2483
Leishmaniasis
Lymphadenopathy, Splenomegaly ORPHA:507
Polycystic Kidney, Cataract, And Congenital Blindness
Microcoria, Cataract, Polycystic kidney dysplasia OMIM:263100
Lymphoproliferative Syndrome, X-Linked, 1
Lymphadenopathy, Splenomegaly OMIM:308240
Cataract 5, Multiple Types
Anterior polar cataract, Pulverulent cataract, Nuclear cataract, Lamellar cataract, Zonular cataract OMIM:116800
Castleman Disease
Ureteral obstruction, Hematuria, Generalized lymphadenopathy, Follicular hyperplasia, Mediastinal... ORPHA:160
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hypoplasia of the iris, Lymphadenopathy, Splenomegaly ORPHA:169090
Desmoplastic Small Round Cell Tumor
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:83469
Stromme Syndrome
Accessory spleen, Iris coloboma, Bilateral renal hypoplasia, Peters anomaly, Cataract, Hydronephr... OMIM:243605
Thyroid Lymphoma
Lymphadenopathy ORPHA:97285
Omenn Syndrome
Nephrotic syndrome, Lymphadenopathy, Splenomegaly ORPHA:39041
Legionnaires Disease
Hematuria, Splenomegaly, Renal insufficiency, Bone marrow hypocellularity, Lymphadenopathy, Prote... ORPHA:549
Sézary Syndrome
Lymphadenopathy, Splenomegaly ORPHA:3162
Squamous Cell Carcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424019
Kaposi Sarcoma
Abnormality of the spleen, Generalized lymphadenopathy ORPHA:33276
Mixed Connective Tissue Disease
Nephropathy, Keratoconjunctivitis sicca, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:809
Purine Nucleoside Phosphorylase Deficiency
Lymph node hypoplasia, Splenomegaly OMIM:613179
Leiomyomatosis, Diffuse, With Alport Syndrome
Abnormal renal physiology, Hematuria, Anterior lenticonus, Nephropathy, Lenticonus, Cataract, Sta... OMIM:308940
Agammaglobulinemia, X-Linked
Conjunctivitis, Lymph node hypoplasia OMIM:300755
American Trypanosomiasis
Lymphadenopathy, Splenomegaly ORPHA:3386
Lassa Fever
Conjunctivitis, Lymphadenopathy, Chemosis ORPHA:99824
Cyclic Neutropenia
Recurrent tonsillitis, Lymphadenopathy, Cervical lymphadenopathy ORPHA:2686
Proteasome-Associated Autoinflammatory Syndrome 4
Lymphadenopathy, Splenomegaly OMIM:619183
Primary Myelofibrosis
Hepatosplenomegaly, Lymphadenopathy, Splenomegaly ORPHA:824
Lig4 Syndrome
Lymphadenopathy, Hypoplasia of penis ORPHA:99812
Aregenerative Anemia
Bone marrow hypocellularity, Lymphadenopathy, Fatigable weakness of skeletal muscles ORPHA:101096
Medullary Thyroid Carcinoma
Lymphadenopathy ORPHA:1332
Pediatric Systemic Lupus Erythematosus
Hematuria, Dark urine, Nephrotic syndrome, Renal insufficiency, Nephritis, Lymphadenopathy, Prote... ORPHA:93552
Periodic Fever, Familial, Autosomal Dominant
Conjunctivitis, Cervical lymphadenopathy, Conjunctival hyperemia OMIM:142680
Cinca Syndrome
Lymphadenopathy, Splenomegaly ORPHA:1451
H Syndrome
Enlarged kidney, Hepatosplenomegaly, Micropenis, Corneal arcus, Lymphadenopathy ORPHA:168569
Autoimmune Lymphoproliferative Syndrome, Type V
Lymphadenopathy, Splenomegaly OMIM:616100
Pulmonary Non-Tuberculous Mycobacterial Infection
Lymphadenopathy ORPHA:411703
Anaplastic Thyroid Carcinoma
Lymphadenopathy ORPHA:142
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Glomerulonephritis, Lymphadenopathy OMIM:304790
Felty Syndrome
Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly ORPHA:47612
Hyper-Igd Syndrome
Lymphadenitis, Renal angiomyolipoma, Elevated urine mevalonic acid, Splenomegaly, Hepatosplenomeg... OMIM:260920
Aggressive Systemic Mastocytosis
Hepatosplenomegaly, Hypersplenism, Lymphadenopathy ORPHA:98850
Niemann-Pick Disease, Type A
Lymphadenopathy, Splenomegaly OMIM:257200
Klatskin Tumor
Lymphadenopathy ORPHA:99978
Lymphatic Filariasis
Hematuria, Urethral obstruction, Lymphadenitis, Glomerulonephritis, Lymphangiectasis, Nephrotic s... ORPHA:2035
Lymphoproliferative Syndrome 1
Lymphadenopathy, Splenomegaly OMIM:613011
Drug Rash With Eosinophilia And Systemic Symptoms
Renal insufficiency, Tubulointerstitial nephritis, Lymphadenopathy, Nephrotic syndrome ORPHA:139402
Immunodeficiency With Hyper-Igm, Type 1
Absence of lymph node germinal center, Enlarged tonsils, Splenomegaly OMIM:308230
Familial Hemophagocytic Lymphohistiocytosis
Abnormal renal physiology, Lymphadenopathy, Splenomegaly ORPHA:540
Immunodeficiency, Common Variable, 8, With Autoimmunity
Conjunctivitis, Generalized lymphadenopathy, Lymphadenopathy, Splenomegaly OMIM:614700
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Shallow anterior chamber, Persistent pupillary membrane, Leukocoria, Iris coloboma, ... OMIM:221900
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Hepatosplenomegaly, Lymphadenopathy ORPHA:169154
Adult-Onset Still Disease
Bone marrow hypocellularity, Generalized lymphadenopathy, Splenomegaly ORPHA:829
Farber Disease
Corneal opacity, Abnormal conjunctiva morphology, Opacification of the corneal stroma, Hepatosple... ORPHA:333
Acute Monoblastic/Monocytic Leukemia
Oliguria, Cervical lymphadenopathy ORPHA:514
Aniridia 1
Aniridia, Anterior subcapsular cataract, Corneal erosion, Ectopia lentis, Hypoplasia of the iris,... OMIM:106210
Chediak-Higashi Syndrome
Iris hypopigmentation, Ocular albinism, Lymphadenopathy, Splenomegaly OMIM:214500
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hepatosplenomegaly, Enlarged tonsils, Lymphadenopathy OMIM:606367
Histiocytosis-Lymphadenopathy Plus Syndrome
Splenomegaly, Hepatosplenomegaly, Micropenis, Corneal arcus, Lymphadenopathy, Cervical lymphadeno... OMIM:602782
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphadenopathy OMIM:617718
Hyperimmunoglobulinemia D With Periodic Fever
Lymphadenopathy ORPHA:343
Proteasome-Associated Autoinflammatory Syndrome 3
Conjunctivitis, Lymphadenopathy, Splenomegaly OMIM:617591
Gamma-Heavy Chain Disease
Lymphadenopathy, Splenomegaly ORPHA:100026
Igg4-Related Kidney Disease
Ureteral obstruction, Hematuria, Acute kidney injury, Albuminuria, Enlarged kidney, Lymphadenitis... ORPHA:449395
Acute Promyelocytic Leukemia
Hematuria, Lymphadenopathy ORPHA:520
Cutaneous Neuroendocrine Carcinoma
Chronic noninfectious lymphadenopathy ORPHA:79140
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Absence of lymph node germinal center, Urinary retention, Hepatosplenomegaly ORPHA:79124
Lymphangioleiomyomatosis
Multiple renal cysts, Hematuria, Abnormal urinary color, Renal angiomyolipoma, Pulmonary lymphang... ORPHA:538
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Lymphadenitis, Hepatosplenomegaly, Generalized lymphadenopathy OMIM:618986
Pancreatoblastoma
Abnormality of the lymph nodes ORPHA:677
Acute Interstitial Pneumonia
Lymphadenopathy ORPHA:79126
Tangier Disease
Chronic noninfectious lymphadenopathy, Orange discolored tonsils, Hepatosplenomegaly, Corneal opa... ORPHA:31150
Waldenström Macroglobulinemia
Renal insufficiency, Lymphadenopathy, Splenomegaly ORPHA:33226
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Lymphadenitis, Lymphadenopathy, Splenomegaly OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Lymphadenitis, Lymphadenopathy, Splenomegaly OMIM:233710
Pulmonary Capillary Hemangiomatosis
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:199241
Multiple Myeloma
Acute kidney injury, Nephropathy, Splenomegaly, Nephrotic syndrome, Lymphadenopathy ORPHA:29073
Hennekam Syndrome
Horseshoe kidney, Ectopic kidney, Pulmonary lymphangiectasia, Splenomegaly, Lymphangioma, Lymphad... ORPHA:2136
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Lymphadenopathy OMIM:617099
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Lymphadenitis, Lymphadenopathy, Splenomegaly OMIM:233690
Granulomatous Disease, Chronic, X-Linked
Lymphadenitis, Lymphadenopathy, Splenomegaly OMIM:306400
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hepatosplenomegaly, Lymphadenopathy, Splenomegaly OMIM:603553
Graft Versus Host Disease
Hepatosplenomegaly, Lymphadenopathy ORPHA:39812
Hemophagocytic Lymphohistiocytosis, Familial, 1
Lymphadenopathy, Splenomegaly OMIM:267700
Malakoplakia
Dysuria, Hematuria, Urinary hesitancy, Urinary bladder inflammation, Follicular hyperplasia, Urin... ORPHA:556
Familial Mediterranean Fever
Nephropathy, Splenomegaly, Nephrotic syndrome, Nephrocalcinosis, Lymphadenopathy, Proteinuria ORPHA:342
Spondyloenchondrodysplasia With Immune Dysregulation
Tubulointerstitial fibrosis, Lymphadenopathy OMIM:607944
Carney Triad
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:139411
Selective Igm Deficiency
Lymphadenitis, Keratitis, Lymphadenopathy ORPHA:331235
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Membranous nephropathy, Tubulointerstitial nephritis, Splenomegaly, Nephrotic syndrome, Lymphaden... ORPHA:37042
Q Fever
Hepatosplenomegaly, Hematuria, Lymphadenopathy, Splenomegaly ORPHA:781
Poems Syndrome
Lymphadenopathy ORPHA:2905
Familial Pancreatic Carcinoma
Hepatosplenomegaly, Lymphadenopathy ORPHA:1333
Systemic Mastocytosis With Associated Hematologic Neoplasm
Lymphadenopathy, Splenomegaly ORPHA:98849
Kikuchi-Fujimoto Disease
Generalized lymphadenopathy, Splenomegaly, Abnormality of the lymph nodes, Lymphadenopathy, Cervi... ORPHA:50918
Autoimmune Lymphoproliferative Syndrome
Chronic noninfectious lymphadenopathy, Glomerulonephritis, Hypersplenism, Splenomegaly, Renal ins... ORPHA:3261
Ileal Neuroendocrine Tumor
Hydronephrosis, Lymphadenopathy ORPHA:100078
Jejunal Neuroendocrine Tumor
Hydronephrosis, Lymphadenopathy ORPHA:100077
Multiple Endocrine Neoplasia Type 2
Prominent corneal nerve fibers, Elevated urinary norepinephrine, Elevated urinary epinephrine, Hy... ORPHA:653
Malt Lymphoma
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:52417
Chédiak-Higashi Syndrome
Iris hypopigmentation, Hepatosplenomegaly, Lymphadenopathy, Splenomegaly ORPHA:167
Sarcoidosis
Abnormal conjunctiva morphology, Hypercalciuria, Cataract, Tubulointerstitial nephritis, Nephroli... ORPHA:797
X-Linked Lymphoproliferative Disease
Enlarged tonsils, Splenomegaly, Hepatosplenomegaly, Bone marrow hypocellularity, Nephritis, Lymph... ORPHA:2442
Neuroendocrine Tumor Of The Colon
Chronic noninfectious lymphadenopathy ORPHA:100080
Common Variable Immunodeficiency
Lymphadenopathy, Splenomegaly 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
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatosplenomegaly, Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly OMIM:615688
Behçet Disease
Cataract, Keratoconjunctivitis sicca, Splenomegaly, Renal insufficiency, Lymphadenopathy ORPHA:117
Coccidioidomycosis
Mediastinal lymphadenopathy, Renal insufficiency, Abnormality of the spleen, Lymphadenopathy ORPHA:228123
Duodenal Neuroendocrine Tumor
Hydronephrosis, Lymphadenopathy ORPHA:100076
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Hepatosplenomegaly, Lymphadenopathy ORPHA:85408
Cherubism
Submandibular lymph node enlargement OMIM:118400
Blau Syndrome
Nephropathy, Cataract, Keratitis, Stage 5 chronic kidney disease, Splenomegaly, Lymphadenopathy ORPHA:90340
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Conjunctivitis, Lymphadenopathy, Splenomegaly ORPHA:32960
Riddle Syndrome
Conjunctival telangiectasia, Generalized lymphadenopathy, Enuresis nocturna ORPHA:420741
Gallbladder Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100086
Primary Sjögren Syndrome
Corneal perforation, Glomerulonephritis, Tubulointerstitial nephritis, Keratoconjunctivitis sicca... ORPHA:289390
Chikungunya
Lymphadenopathy, Cervical lymphadenopathy ORPHA:324625
Igg4-Related Submandibular Gland Disease
Renal insufficiency, Lymphadenopathy ORPHA:449432
African Trypanosomiasis
Iritis, Urinary incontinence, Conjunctivitis, Keratitis, Splenomegaly, Renal insufficiency, Hepat... ORPHA:3385
Proteasome-Associated Autoinflammatory Syndrome 1
Conjunctivitis, Punctate opacification of the cornea, Lymphadenopathy, Splenomegaly OMIM:256040
Adenocarcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424016
Brucellosis
Glomerulonephritis, Splenomegaly, Hypersplenism, Lymphadenopathy ORPHA:1304
Leptospirosis
Cellular urinary casts, Acute kidney injury, Lymphadenopathy, Conjunctival hyperemia ORPHA:509
Sarcoidosis, Susceptibility To, 1
Mediastinal lymphadenopathy, Hypercalciuria, Generalized lymphadenopathy, Splenomegaly OMIM:181000
Igg4-Related Ophthalmic Disease
Keratitis, Lymphadenopathy ORPHA:449563
Autosomal Recessive Malignant Osteopetrosis
Lymphadenopathy, Splenomegaly ORPHA:667
Kawasaki Disease
Conjunctivitis, Proteinuria, Cervical lymphadenopathy, Sterile pyuria ORPHA:2331
Plague
Lymphadenitis, Mydriasis, Splenomegaly, Enlarged mesenteric lymph node, Conjunctival hyperemia ORPHA:707

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 Trp53inp2

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 Trp53inp2.

No publications found that use IMPC mice or data for Trp53inp2.

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MGI Allele Allele Type Produced
Trp53inp2em1(IMPC)Mbp Exon Deletion Mice
Trp53inp2tm1a(KOMP)Mbp KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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