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Gene: Arfip1 MGI:1277120

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Gene Summary

Name:
ADP-ribosylation factor interacting protein 1
Synonyms:
D3Ertd598e,  2310030I10Rik,  Arfaptin

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
abnormal testis morphology Arfip1em1(IMPC)Mbp HOM Early adult 0.00
abnormal lymph node morphology Arfip1em1(IMPC)Mbp HOM Early adult 0.00
small testis Arfip1em1(IMPC)Mbp HOM Early adult 0.00
enlarged lymph nodes Arfip1em1(IMPC)Mbp HOM Early adult 0.00
increased bone mineral content Arfip1em1(IMPC)Mbp HOM Early adult 4.76×10-05

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

80 Images

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X-ray

XRay Images Whole Body Lateral Orientation

40 Images

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Human diseases caused by Arfip1 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 Arfip1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Infertility, Abnormal lymph node morphology OMIM:136580
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy, Axillary lymphadenopathy, Inguinal 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
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Hypogonadism, Male
Testicular atrophy, Male hypogonadism, Micropenis, Hypospadias OMIM:241100
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Kerion Celsi
Lymphadenopathy ORPHA:499
Immunodeficiency 75 With Lymphoproliferation
Follicular hyperplasia, Hepatosplenomegaly, Lymphadenopathy OMIM:619126
Kimura Disease
Follicular hyperplasia, Abnormal salivary gland morphology, Lymphadenopathy ORPHA:482
Isolated Splenogonadal Fusion
Abnormal epididymis morphology, Ectopia of the spleen, Bilateral cryptorchidism, Unilateral crypt... ORPHA:457083
Spermatogenic Failure, X-Linked, 2
Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia OMIM:309120
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy, Epididymitis OMIM:608106
Familial Papillary Or Follicular Thyroid Carcinoma
Abnormal lymph node morphology, Papillary thyroid carcinoma, Chronic noninfectious lymphadenopath... ORPHA:319487
Isolated Follicle Stimulating Hormone Deficiency
Delayed puberty, Azoospermia, Decreased female libido, Oligozoospermia, Testicular atrophy, Delay... ORPHA:52901
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Abnormal lymph node morphology, Papillary thyroid carcinoma, Chronic noninfectious lymphadenopath... ORPHA:97290
Laryngeal Neuroendocrine Tumor
Adrenocorticotropic hormone excess, Inappropriate antidiuretic hormone secretion, Chronic noninfe... ORPHA:100083
Mu-Heavy Chain Disease
Splenomegaly, Lymphadenopathy, Osteoporosis, Osteolysis ORPHA:100024
Immunodeficiency 104
Splenomegaly, Lymphadenopathy OMIM:608971
Rosaï-Dorfman Disease
Lymphadenopathy, Osteolysis ORPHA:158014
Burkitt Lymphoma
Abnormality of the spleen, Abnormal lymph node morphology, Abnormality of the ovary ORPHA:543
Autoinflammation With Episodic Fever And Lymphadenopathy
Splenomegaly, Lymphadenopathy, Recurrent tonsillitis OMIM:618852
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia OMIM:613909
Spinocerebellar Ataxia Type 32
Male infertility, Testicular atrophy, Azoospermia ORPHA:276183
Mast Cell Sarcoma
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:66661
Kennedy Disease
Decreased fertility, Type II diabetes mellitus, Erectile dysfunction, Testicular atrophy ORPHA:481
Immunodeficiency 32A
Lymphadenitis, Lymphadenopathy OMIM:614893
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Splenomegaly, Lymphadenopathy ORPHA:444463
Follicular Lymphoma
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:545
Thymic Neuroendocrine Tumor
Osteopenia, Neoplasm of the endocrine system, Mediastinal lymphadenopathy, Pancreatic islet cell ... ORPHA:97289
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:86893
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Lymphadenopathy OMIM:618261
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormality of the lymphatic system, Abnormal lymph node morphology, Abnormal testis morphology ORPHA:54251
Hemochromatosis, Type 1
Azoospermia, Impotence, Osteoporosis, Diabetes mellitus, Splenomegaly, Amenorrhea, Hypogonadotrop... OMIM:235200
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Decreased circulat... OMIM:308700
Granulomatous Slack Skin
Abnormal lymph node morphology ORPHA:33111
Leukocyte Adhesion Deficiency, Type Iii
Osteopetrosis, Abnormal lymph node morphology, Splenomegaly, Hepatosplenomegaly OMIM:612840
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Lymphadenopathy OMIM:615513
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Genital ulcers, Lymph node hypoplasia, Splenomegaly, Aplasia of the thymus, Absent tonsils, Gener... OMIM:602450
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Lymphadenopathy OMIM:619220
Kallmann Syndrome With Spastic Paraplegia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:308750
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Hepatosplenomegaly, Lymphadenopathy OMIM:618982
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Mediastinal lymphadenopathy, Ovarian neoplasm, Lymphadenopathy, Testicu... ORPHA:83469
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Thyroid Lymphoma
Lymphadenopathy, Hypothyroidism, Hashimoto thyroiditis, Hyperthyroidism, Goiter ORPHA:97285
Immunodeficiency 76
Splenomegaly, Lymphadenopathy OMIM:619164
Classic Hodgkin Lymphoma
Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly, Osteolysis ORPHA:391
Schnitzler Syndrome
Increased bone mineral density, Lymphadenopathy, Splenomegaly ORPHA:37748
Alpha-Heavy Chain Disease
Splenomegaly, Lymphadenopathy ORPHA:100025
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center OMIM:606843
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Decreased fertility, Testicular atrophy OMIM:313200
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly OMIM:300853
Indolent Systemic Mastocytosis
Splenomegaly, Lymphadenopathy, Osteoporosis ORPHA:98848
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Follicular hyperplasia, Lymphadenopathy OMIM:619846
Immunodeficiency 64 With Lymphoproliferation
Mediastinal lymphadenopathy, Lymphadenopathy, Hepatosplenomegaly, Splenomegaly, Cervical lymphade... OMIM:618534
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Immunodeficiency 54
Lymphadenopathy, Splenomegaly, Adrenocorticotropic hormone excess, Adrenal insufficiency OMIM:609981
Hemophagocytic Lymphohistiocytosis, Familial, 4
Lymphadenopathy, Splenomegaly OMIM:603552
Autoimmune Lymphoproliferative Syndrome, Type Iii
Mediastinal lymphadenopathy, Lymphadenopathy, Hepatosplenomegaly, Splenomegaly, Generalized lymph... OMIM:615559
Pfapa Syndrome
Splenomegaly, Lymphadenopathy ORPHA:42642
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy, Decreased skull ossification OMIM:601163
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Hepatosplenomegaly, Lymphadenopathy OMIM:613101
Roifman Syndrome
Delayed proximal femoral epiphyseal ossification, Hepatosplenomegaly, Hypogonadotropic hypogonadi... ORPHA:353298
Immunodeficiency, Common Variable, 2
Follicular hyperplasia, Lymphadenopathy, Splenomegaly OMIM:240500
Medullary Thyroid Carcinoma
Lymphadenopathy, Pheochromocytoma, Primary hyperparathyroidism, Elevated circulating calcitonin c... ORPHA:1332
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy OMIM:618987
Immunodeficiency 27A
Lymphadenopathy, Enlarged mesenteric lymph node, Hepatosplenomegaly, Splenomegaly OMIM:209950
Middle Ear Neuroendocrine Tumor
Carcinoid tumor, Chronic noninfectious lymphadenopathy, Neuroendocrine neoplasm ORPHA:100084
Immunodeficiency With Hyper-Igm, Type 4
Absence of lymph node germinal center OMIM:608184
Caspase 8 Deficiency
Splenomegaly, Lymphadenopathy OMIM:607271
Fish-Eye Disease
Splenomegaly, Lymphadenopathy ORPHA:79292
Acquired Hypertrichosis Lanuginosa
Ovarian neoplasm, Lymphadenopathy ORPHA:2221
Immunodeficiency 103, Susceptibility To Fungal Infections
Lymphadenopathy OMIM:212050
Pleural Mesothelioma
Lymphadenopathy ORPHA:50251
Classic Mycosis Fungoides
Lymphadenopathy, Splenomegaly ORPHA:2584
Immunodeficiency 52
Lymphadenopathy, Splenomegaly OMIM:617514
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Dyskeratosis Congenita, Autosomal Recessive 2
Bone marrow hypocellularity, Testicular atrophy OMIM:613987
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Primary testicular failure, Lymphadenopathy, Abnormal lymph node morphology, Ol... ORPHA:85450
Immunodeficiency 109 With Lymphoproliferation
Generalized lymphadenopathy, Splenomegaly OMIM:620282
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Splenomegaly OMIM:611762
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, Absence of lymph node germinal center ORPHA:277
Immune Dysregulation, Autoimmunity, And Autoinflammation
Cervical lymphadenopathy, Inguinal lymphadenopathy OMIM:620514
Activated Pi3K-Delta Syndrome
Lymphadenopathy, Splenomegaly, Recurrent tonsillitis ORPHA:397596
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Lymphadenopathy, Thyroiditis, Splenomegaly OMIM:619375
Symptomatic Form Of Hfe-Related Hemochromatosis
Erectile dysfunction, Decreased libido, Infertility, Osteoporosis, Hypothyroidism, Diabetes melli... ORPHA:465508
Anaplastic Thyroid Carcinoma
Anaplastic thyroid carcinoma, Goiter, Nodular goiter, Lymphadenopathy ORPHA:142
Pseudomyxoma Peritonei
Lymphadenopathy ORPHA:26790
Tularemia
Abnormal nasopharyngeal adenoid morphology, Cervical lymphadenopathy, Mediastinal lymphadenopathy... ORPHA:3392
Lymphatic Filariasis
Lymphangiectasis, Lymphadenopathy, Abnormality of the lymphatic system, Lymphadenitis, Abnormal s... ORPHA:2035
Immunodeficiency 105
Absence of lymph node germinal center, Hepatosplenomegaly OMIM:619924
Congenital Toxoplasmosis
Lymphadenopathy ORPHA:858
Lig4 Syndrome
Lymphadenopathy, Hypoplasia of penis, Hypothyroidism, Type II diabetes mellitus, Cryptorchidism ORPHA:99812
Poems Syndrome
Erectile dysfunction, Lymphadenopathy, Abnormality of the endocrine system, Sclerosis of hand bon... ORPHA:2905
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Splenomegaly, Lymphadenopathy OMIM:618495
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Splenomegaly, Lymphadenopathy OMIM:150550
Cold Agglutinin Disease
Splenomegaly, Lymphadenopathy ORPHA:56425
Immunodeficiency 98 With Autoinflammation, X-Linked
Lymphadenopathy, Myelofibrosis, Bone marrow hypocellularity, Splenomegaly, Type I diabetes mellitus OMIM:301078
Immunodeficiency, Common Variable, 1
Lymphadenopathy, Splenomegaly OMIM:607594
Pancreatoblastoma
Abnormal lymph node morphology, Pancreatic calcification ORPHA:677
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Osteopenia, Hypopituitarism, Absent peripheral lymph nodes in presence of infection ORPHA:98813
Myotonic Dystrophy 1
Testicular atrophy, Cholelithiasis, Hypogonadism OMIM:160900
Papa Syndrome
Type I diabetes mellitus, Lymphadenopathy ORPHA:69126
Tafro Syndrome
Lymphadenopathy, Myelofibrosis, Hepatosplenomegaly, Splenomegaly, Elevated vascular endothelial g... ORPHA:457077
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Hypothyroidism, Hepatosplenomegaly, Lymphadenopathy OMIM:619750
Niemann-Pick Disease, Type A
Lymphadenopathy, Splenomegaly, Osteoporosis OMIM:257200
Ras-Associated Autoimmune Leukoproliferative Disorder
Follicular hyperplasia, Splenomegaly OMIM:614470
Lymphoproliferative Syndrome 2
Lymphadenopathy, Hepatosplenomegaly, Splenomegaly OMIM:615122
Immunodeficiency 7
Splenomegaly, Lymphadenopathy OMIM:615387
H Syndrome
Delayed puberty, Lymphadenopathy, Azoospermia, Decreased testicular size, Hepatosplenomegaly, Hyp... ORPHA:168569
Meige Disease
Absence of lymph node germinal center, Lymph node hypoplasia ORPHA:90186
Heme Oxygenase 1 Deficiency
Cervical lymphadenopathy, Lymphadenopathy, Asplenia OMIM:614034
Joint Contractures, Osteochondromas, And B-Cell Lymphoma
Reduced bone mineral density, Generalized lymphadenopathy OMIM:620232
Aggressive Systemic Mastocytosis
Lymphadenopathy, Osteoporosis, Hepatosplenomegaly, Hypersplenism, Osteolysis ORPHA:98850
Carcinoid Syndrome
Chronic noninfectious lymphadenopathy, Small intestine carcinoid, Pulmonary carcinoid tumor, Carc... ORPHA:100093
Griscelli Syndrome Type 2
Splenomegaly, Lymphadenopathy ORPHA:79477
Cinca Syndrome
Hepatosplenomegaly, Lymphadenopathy OMIM:607115
Roifman Syndrome
Lymphadenopathy, Splenomegaly OMIM:616651
Gamma-Heavy Chain Disease
Splenomegaly, Lymphadenopathy, Osteolysis ORPHA:100026
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphadenitis, Abnormal lymph node morphology, Hepatosplenomegaly, Lymphadenopathy ORPHA:911
Rhabdoid Tumor
Lymphadenopathy ORPHA:69077
Aarskog-Scott Syndrome
Delayed puberty, Bilateral cryptorchidism, Elevated circulating follicle stimulating hormone leve... OMIM:305400
Castleman Disease
Mediastinal lymphadenopathy, Lymphadenopathy, Myelofibrosis, Generalized lymphadenopathy, Follicu... ORPHA:160
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy ORPHA:3226
Boutonneuse Fever
Cervical lymphadenopathy, Lymphadenopathy ORPHA:83313
Autoimmune Lymphoproliferative Syndrome, Type Iia
Chronic noninfectious lymphadenopathy, Lymphadenopathy, Splenomegaly, Follicular hyperplasia OMIM:603909
Leishmaniasis
Lymphadenopathy, Splenomegaly ORPHA:507
Systemic-Onset Juvenile Idiopathic Arthritis
Splenomegaly, Lymphadenopathy ORPHA:85414
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphadenopathy, Recurrent tonsillitis, Lymphadenitis, Hepatosplenomegaly, Splenomegaly OMIM:618935
Autoimmune Lymphoproliferative Syndrome
Chronic noninfectious lymphadenopathy, Splenomegaly, Follicular hyperplasia OMIM:601859
Nephroblastoma
Lymphadenopathy ORPHA:654
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Absent tonsils, Lymph node hypoplasia ORPHA:276
Bone Marrow Failure Syndrome 5
Testicular atrophy, Hypogonadism OMIM:618165
Cinca Syndrome
Lymphadenopathy, Reduced bone mineral density, Splenomegaly ORPHA:1451
Omenn Syndrome
Hypothyroidism, Lymphadenopathy, Thyroiditis, Splenomegaly ORPHA:39041
Squamous Cell Carcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424019
Felty Syndrome
Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly, Osteolysis ORPHA:47612
Pulmonary Non-Tuberculous Mycobacterial Infection
Lymphadenopathy ORPHA:411703
Sézary Syndrome
Lymphadenopathy, Splenomegaly ORPHA:3162
Griscelli Syndrome
Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy ORPHA:381
Proteasome-Associated Autoinflammatory Syndrome 4
Splenomegaly, Lymphadenopathy OMIM:619183
Lymphoproliferative Syndrome, X-Linked, 1
Lymphadenopathy, Splenomegaly OMIM:308240
Primary Myelofibrosis
Lymphadenopathy, Hepatosplenomegaly, Splenomegaly ORPHA:824
Immunodeficiency 91 And Hyperinflammation
Hepatosplenomegaly, Lymphadenopathy OMIM:619644
Scrub Typhus
Lymphadenopathy, Splenomegaly ORPHA:83317
Cutaneous Neuroendocrine Carcinoma
Carcinoid tumor, Chronic noninfectious lymphadenopathy, Merkel cell skin cancer ORPHA:79140
Proteasome-Associated Autoinflammatory Syndrome 2
Lymphadenopathy OMIM:618048
Omenn Syndrome
Lymphadenopathy, Splenomegaly, Hypoplasia of the thymus OMIM:603554
Wolfram Syndrome 1
Hypothyroidism, Diabetes mellitus, Testicular atrophy, Diabetes insipidus OMIM:222300
American Trypanosomiasis
Lymphadenopathy, Splenomegaly ORPHA:3386
Cyclic Neutropenia
Cervical lymphadenopathy, Lymphadenopathy, Recurrent tonsillitis ORPHA:2686
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Lymphadenopathy, Thyroiditis, Hypothyroidism, Enlarged tonsils, Hepatosplenomegaly, Type I diabet... OMIM:606367
Carney Triad
Mediastinal lymphadenopathy, Lymphadenopathy, Adrenocortical adenoma, Pheochromocytoma, Adrenal o... ORPHA:139411
Purine Nucleoside Phosphorylase Deficiency
Lymph node hypoplasia, Splenomegaly OMIM:613179
Immunodeficiency 97 With Autoinflammation
Lymphadenopathy, Mediastinal lymphadenopathy, Hepatosplenomegaly, Splenomegaly OMIM:619802
Mixed Connective Tissue Disease
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly, Osteolysis ORPHA:809
Histiocytosis-Lymphadenopathy Plus Syndrome
Decreased response to growth hormone stimulation test, Lymphadenopathy, Azoospermia, Pancreatic h... OMIM:602782
Diffuse Cutaneous Mastocytosis
Lymphadenopathy, Abnormality of the spleen ORPHA:79456
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphadenopathy, Splenomegaly OMIM:616100
Agammaglobulinemia, X-Linked
Prostatitis, Lymph node hypoplasia, Epididymitis OMIM:300755
Immunodeficiency, Common Variable, 8, With Autoimmunity
Lymphadenopathy, Thyroiditis, Hypothyroidism, Splenomegaly, Type I diabetes mellitus, Generalized... OMIM:614700
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Hypothyroidism, Type I diabetes mellitus, Lymphadenopathy OMIM:304790
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Lymphadenopathy, Type I diabetes mellitus, Thyroiditis, Splenomegaly ORPHA:436159
Klatskin Tumor
Lymphadenopathy ORPHA:99978
Melkersson-Rosenthal Syndrome
Lymphadenopathy ORPHA:2483
Immunodeficiency 10
Lymphadenopathy, Splenomegaly OMIM:612783
Familial Pancreatic Carcinoma
Lymphadenopathy, Hepatosplenomegaly, Pancreatic adenocarcinoma, Ovarian carcinoma, Diabetes mellitus ORPHA:1333
Lymphoproliferative Syndrome 1
Lymphadenopathy, Splenomegaly OMIM:613011
Hypocomplementemic Urticarial Vasculitis
Lymphadenopathy, Splenomegaly ORPHA:36412
Combined Immunodeficiency Due To Crac Channel Dysfunction
Lymphadenopathy, Splenomegaly ORPHA:169090
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Hepatosplenomegaly, Lymphadenopathy ORPHA:169154
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogonadism, Primary am... OMIM:157640
Bronchial Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Pulmonary carcinoid tumor, Elevated circulating growth hor... ORPHA:97287
Adult-Onset Still Disease
Bone marrow hypocellularity, Generalized lymphadenopathy, Splenomegaly, Lymphadenopathy ORPHA:829
Legionnaires Disease
Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy ORPHA:549
Acute Monoblastic/Monocytic Leukemia
Central hypothyroidism, Cervical lymphadenopathy ORPHA:514
Neuroendocrine Tumor Of The Colon
Increased serum serotonin, Carcinoid tumor, Atypical pulmonary carcinoid tumor, Chronic noninfect... ORPHA:100080
Immunodeficiency 31C
Osteopenia, Delayed puberty, Lymphadenopathy, Hypothyroidism, Splenomegaly, Diabetes mellitus OMIM:614162
Igg4-Related Submandibular Gland Disease
Enlarged lacrimal glands, Abnormal salivary gland morphology, Prostatitis, Abnormal pancreas morp... ORPHA:449432
Malt Lymphoma
Mediastinal lymphadenopathy, Lymphadenopathy, Abnormality of the thyroid gland ORPHA:52417
Hyperimmunoglobulinemia D With Periodic Fever
Lymphadenopathy ORPHA:343
Acute Promyelocytic Leukemia
Metrorrhagia, Lymphadenopathy ORPHA:520
Immunodeficiency With Hyper-Igm, Type 1
Absence of lymph node germinal center, Enlarged tonsils, Splenomegaly OMIM:308230
Macrophage Activation Syndrome
Lymphadenopathy, Splenomegaly ORPHA:158061
Malakoplakia
Follicular hyperplasia, Prostate neoplasm, Orchitis, Abnormality of the menstrual cycle ORPHA:556
Mevalonic Aciduria
Fluctuating splenomegaly, Hepatosplenomegaly, Lymphadenopathy OMIM:610377
Drug Reaction With Eosinophilia And Systemic Symptoms
Thyroiditis, Lymphadenopathy ORPHA:139402
Familial Hemophagocytic Lymphohistiocytosis
Lymphadenopathy, Splenomegaly ORPHA:540
Acute Interstitial Pneumonia
Lymphadenopathy ORPHA:79126
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Generalized lymphadenopathy, Hepatosplenomegaly, Lymphadenitis OMIM:618986
Cushing Syndrome Due To Ectopic Acth Secretion
Pheochromocytoma, Adrenal hyperplasia, Pulmonary carcinoid tumor, Medullary thyroid carcinoma, In... ORPHA:99889
Farber Disease
Hepatosplenomegaly, Lymphadenopathy, Osteoporosis ORPHA:333
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Lymphadenitis, Lymphadenopathy, Splenomegaly OMIM:615895
Hemophagocytic Lymphohistiocytosis, Familial, 2
Lymphadenopathy, Hepatosplenomegaly, Splenomegaly OMIM:603553
Pulmonary Capillary Hemangiomatosis
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:199241
Neuroendocrine Tumor Of The Rectum
Increased serum serotonin, Carcinoid tumor, Atypical pulmonary carcinoid tumor, Chronic noninfect... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Increased serum serotonin, Carcinoid tumor, Atypical pulmonary carcinoid tumor, Chronic noninfect... ORPHA:100082
Aregenerative Anemia
Bone marrow hypocellularity, Lymphadenopathy ORPHA:101096
Coccidioidomycosis
Abnormality of the female genitalia, Mediastinal lymphadenopathy, Lymphadenopathy, Abnormality of... ORPHA:228123
T-Cell Immunodeficiency With Thymic Aplasia
Hypothyroidism, Thyroiditis, Lymphadenopathy, Aplasia of the thymus ORPHA:83471
Hemophagocytic Lymphohistiocytosis, Familial, 1
Lymphadenopathy, Splenomegaly OMIM:267700
Hyper-Igd Syndrome
Lymphadenitis, Lymphadenopathy, Hepatosplenomegaly, Splenomegaly OMIM:260920
Kikuchi-Fujimoto Disease
Abnormal lymph node morphology, Lymphadenopathy, Splenomegaly, Generalized lymphadenopathy, Cervi... ORPHA:50918
Systemic Mastocytosis With Associated Hematologic Neoplasm
Lymphadenopathy, Splenomegaly, Osteoporosis ORPHA:98849
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Absence of lymph node germinal center, Hepatosplenomegaly, Inappropriate antidiuretic hormone sec... ORPHA:79124
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Lymphadenitis, Lymphadenopathy, Splenomegaly OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Lymphadenitis, Lymphadenopathy, Splenomegaly OMIM:233710
Proteasome-Associated Autoinflammatory Syndrome 3
Lymphadenopathy, Splenomegaly OMIM:617591
X-Linked Intellectual Disability, Snyder Type
Hypospadias, Abnormality of the Leydig cells, Osteoporosis, Cryptorchidism, Testicular atrophy ORPHA:3063
Multiple Myeloma
Osteopenia, Lymphadenopathy, Splenomegaly ORPHA:29073
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Lymphadenopathy OMIM:617099
Spondyloenchondrodysplasia With Immune Dysregulation
Sclerosis of skull base, Hypothyroidism, Lymphadenopathy OMIM:607944
Pediatric Systemic Lupus Erythematosus
Lymphadenopathy ORPHA:93552
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Lymphadenitis, Lymphadenopathy, Splenomegaly OMIM:233690
Congenital Syphilis
Periostitis, Hepatosplenomegaly, Lymphadenopathy ORPHA:499009
Graft Versus Host Disease
Hepatosplenomegaly, Lymphadenopathy ORPHA:39812
Neuroblastoma
Elevated circulating catecholamine level, Lymphadenopathy ORPHA:635
Lymphangioleiomyomatosis
Abnormality of the lymphatic system, Pulmonary lymphangiomyomatosis, Abnormal morphology of femal... ORPHA:538
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Lymphadenopathy, Abnormality of the endocrine system, Thyroiditis, Hypothyroidism, Splenomegaly, ... ORPHA:37042
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Lymphadenopathy, Accessory spleen, Splenomegaly, Primary amenorrhea, Polysplenia OMIM:619418
Lesch-Nyhan Syndrome
Testicular atrophy OMIM:300322
Waldenström Macroglobulinemia
Lymphadenopathy, Splenomegaly ORPHA:33226
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Lymphadenopathy, Splenomegaly, Orchitis ORPHA:32960
Hennekam Syndrome
Lymphadenopathy, Lymphangioma, Splenomegaly, Pulmonary lymphangiectasia, Craniosynostosis ORPHA:2136
Acute Generalized Exanthematous Pustulosis
Lymphadenopathy ORPHA:293173
Chediak-Higashi Syndrome
Lymphadenopathy, Splenomegaly OMIM:214500
Selective Igm Deficiency
Lymphadenitis, Thyroid carcinoma, Lymphadenopathy, Hashimoto thyroiditis ORPHA:331235
Autoimmune Lymphoproliferative Syndrome
Thyroid carcinoma, Premature ovarian insufficiency, Lymphadenopathy, Thyroiditis, Chronic noninfe... ORPHA:3261
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Lymphadenopathy, Bone marrow hypocellularity, Hashimoto thyroiditis, Hepatosplenomegaly, Splenome... OMIM:615688
Neuroendocrine Neoplasm Of Appendix
Ovarian neoplasm, Adrenocorticotropic hormone excess, Chronic noninfectious lymphadenopathy, Inte... ORPHA:100079
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Cervical lymphadenopathy, Lymphadenopathy OMIM:617718
Autosomal Recessive Malignant Osteopetrosis
Osteopetrosis, Reduced bone mineral density, Lymphadenopathy, Splenomegaly, Craniosynostosis ORPHA:667
Q Fever
Lymphadenopathy, Hepatosplenomegaly, Splenomegaly ORPHA:781
Familial Mediterranean Fever
Lymphadenopathy, Splenomegaly, Orchitis ORPHA:342
Sarcoidosis
Enlarged lacrimal glands, Abnormality of the adrenal glands, Abnormal lymph node morphology, Lymp... ORPHA:797
Immunodeficiency 55
Lymphadenopathy OMIM:617827
Igg4-Related Ophthalmic Disease
Enlarged lacrimal glands, Prostatitis, Lymphadenopathy, Sialadenitis, Thyroiditis, Orchitis, Abno... ORPHA:449563
Multiple Endocrine Neoplasia Type 2
Elevated circulating parathyroid hormone level, Cervical neoplasm, Pheochromocytoma, Thyroid C ce... ORPHA:653
Chikungunya
Periostitis, Cervical lymphadenopathy, Lymphadenopathy, Osteolysis ORPHA:324625
Common Variable Immunodeficiency
Lymphadenopathy, Splenomegaly ORPHA:1572
Granulomatous Disease, Chronic, X-Linked
Lymphadenitis, Lymphadenopathy, Splenomegaly OMIM:306400
Gallbladder Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Neuroendocrine neoplasm ORPHA:100086
Sarcoidosis, Susceptibility To, 1
Enlarged lacrimal glands, Abnormal salivary gland morphology, Mediastinal lymphadenopathy, Bone c... OMIM:181000
Steinert Myotonic Dystrophy
Decreased response to growth hormone stimulation test, Male hypogonadism, Hyperinsulinemia, Abnor... ORPHA:273
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Absent peripheral lymph nodes in presence of infection OMIM:600802
Igg4-Related Dacryoadenitis And Sialadenitis
Enlarged lacrimal glands, Abnormal salivary gland morphology, Lymphadenopathy, Thyroiditis, Abnor... ORPHA:79078
Ileal Neuroendocrine Tumor
Increased serum serotonin, Lymphadenopathy, Small intestine carcinoid ORPHA:100078
Tangier Disease
Orange discolored tonsils, Hepatosplenomegaly, Chronic noninfectious lymphadenopathy ORPHA:31150
Immunodeficiency 82 With Systemic Inflammation
Lymphadenopathy, Anoperineal fistula, Splenomegaly, Osteomalacia, Follicular hyperplasia OMIM:619381
Brucellosis
Lymphadenopathy, Splenomegaly, Orchitis, Epididymitis, Hypersplenism ORPHA:1304
Igg4-Related Kidney Disease
Prostatitis, Lymphadenopathy, Sialadenitis, Thyroiditis, Lymphadenitis, Abnormality of the anteri... ORPHA:449395
Chédiak-Higashi Syndrome
Lymphadenopathy, Hepatosplenomegaly, Splenomegaly ORPHA:167
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Hepatosplenomegaly, Lymphadenopathy ORPHA:85408
Behçet Disease
Lymphadenopathy, Splenomegaly, Orchitis ORPHA:117
Proteasome-Associated Autoinflammatory Syndrome 1
Elevated circulating thyroid-stimulating hormone concentration, Lymphadenopathy, Parotitis, Splen... OMIM:256040
Crimean-Congo Hemorrhagic Fever
Lymphadenopathy, Parotitis, Inappropriate antidiuretic hormone secretion, Orchitis, Splenomegaly,... ORPHA:99827
Adenocarcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424016
Primary Sjögren Syndrome
Thyroiditis, Parotitis, Vaginal dryness, Lymphadenopathy ORPHA:289390
African Trypanosomiasis
Abnormality of renin-angiotensin system, Lymphadenopathy, Abnormality of the endocrine system, In... ORPHA:3385
Marburg Hemorrhagic Fever
Lymphadenopathy, Orchitis ORPHA:99826
Blau Syndrome
Lymphadenopathy, Abnormal salivary gland morphology, Splenomegaly ORPHA:90340
Systemic Lupus Erythematosus
Lymphadenopathy ORPHA:536
Leptospirosis
Lymphadenopathy ORPHA:509

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
Epididymis - MPATH pathological process term hypoplasia Arfip1em1(IMPC)Mbp HOM Early adult
Testis - MPATH pathological process term hypoplasia Arfip1em1(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 Arfip1.

No publications found that use IMPC mice or data for Arfip1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Arfip1em1(IMPC)Mbp Exon Deletion Mice, Tissue
Arfip1tm195332(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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