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

Download data as:  TSV  XLS

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Viewing: all phenotypes
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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
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center OMIM:235550
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Hereditary Progressive Mucinous Histiocytosis
Lymphadenopathy ORPHA:158025
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Follicular hyperplasia ORPHA:60026
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... ORPHA:399805
Hypogonadism, Male
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy OMIM:241100
Kerion Celsi
Lymphadenopathy ORPHA:499
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Lymphadenopathy, Follicular hyperplasia OMIM:619126
Kimura Disease
Abnormal salivary gland morphology, Lymphadenopathy, Follicular hyperplasia ORPHA:482
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib... ORPHA:52901
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Immunodeficiency With Hyper-Igm, Type 5
Epididymitis, Lymphadenopathy OMIM:608106
Familial Papillary Or Follicular Thyroid Carcinoma
Chronic noninfectious lymphadenopathy, Follicular thyroid carcinoma, Abnormal lymph node morpholo... ORPHA:319487
Mu-Heavy Chain Disease
Splenomegaly, Osteoporosis, Osteolysis, Lymphadenopathy ORPHA:100024
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal sperm tail morpho... ORPHA:399808
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology, Papillary thyroid carcinom... ORPHA:97290
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Adrenocorticotropic hormone excess, Increased serum seroto... ORPHA:100083
Immunodeficiency 104
Splenomegaly, Lymphadenopathy OMIM:608971
Rosaï-Dorfman Disease
Osteolysis, Lymphadenopathy ORPHA:158014
Autoinflammation With Episodic Fever And Lymphadenopathy
Splenomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Burkitt Lymphoma
Abnormality of the spleen, Abnormality of the ovary, Abnormal lymph node morphology ORPHA:543
Mast Cell Sarcoma
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:66661
Kennedy Disease
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction 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
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:86893
Hemochromatosis, Type 1
Diabetes mellitus, Hypogonadotropic hypogonadism, Splenomegaly, Osteoporosis, Azoospermia, Impote... OMIM:235200
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Lymphadenopathy OMIM:618261
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormality of the lymphatic system, Abnormal testis morphology, Abnormal lymph node morphology ORPHA:54251
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:308700
Granulomatous Slack Skin
Abnormal lymph node morphology ORPHA:33111
Leukocyte Adhesion Deficiency, Type Iii
Splenomegaly, Abnormal lymph node morphology, Osteopetrosis, Hepatosplenomegaly OMIM:612840
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Lymphadenopathy OMIM:615513
Thymic Neuroendocrine Tumor
Osteopenia, Chronic noninfectious lymphadenopathy, Pituitary null cell adenoma, Pancreatic islet ... ORPHA:97289
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Lymphadenopathy, Fluctuating splenomegaly OMIM:619220
Immunodeficiency 76
Splenomegaly, Lymphadenopathy OMIM:619164
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Testicular neoplasm, Mediastinal lymphadenopathy, Ovarian neoplasm, Lym... ORPHA:83469
Schnitzler Syndrome
Splenomegaly, Increased bone mineral density, Lymphadenopathy ORPHA:37748
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Hepatosplenomegaly, Lymphadenopathy OMIM:618982
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Generalized lymphadenopathy, Aplasia of the thymus, Genital ulcers, Splenomegaly, Lymph node hypo... OMIM:602450
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Alpha-Heavy Chain Disease
Splenomegaly, Lymphadenopathy ORPHA:100025
Generalized Eruptive Histiocytosis
Lymphadenopathy ORPHA:157991
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... OMIM:308750
Classic Hodgkin Lymphoma
Splenomegaly, Osteolysis, Bone marrow hypocellularity, Lymphadenopathy ORPHA:391
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center OMIM:606843
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy OMIM:300853
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Decreased skull ossification, Testicular atrophy OMIM:601163
Immunodeficiency 52
Splenomegaly, Lymphadenopathy OMIM:617514
Immunodeficiency, Common Variable, 2
Splenomegaly, Follicular hyperplasia, Lymphadenopathy OMIM:240500
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Lymphadenopathy, Follicular hyperplasia OMIM:619846
Indolent Systemic Mastocytosis
Splenomegaly, Osteoporosis, Lymphadenopathy ORPHA:98848
Immunodeficiency 64 With Lymphoproliferation
Splenomegaly, Mediastinal lymphadenopathy, Cervical lymphadenopathy, Lymphadenopathy, Hepatosplen... OMIM:618534
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Hemophagocytic Lymphohistiocytosis, Familial, 4
Splenomegaly, Lymphadenopathy OMIM:603552
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly OMIM:613101
Autoimmune Lymphoproliferative Syndrome, Type Iii
Generalized lymphadenopathy, Follicular hyperplasia, Mediastinal lymphadenopathy, Splenomegaly, L... OMIM:615559
Pfapa Syndrome
Splenomegaly, Lymphadenopathy ORPHA:42642
Thyroid Lymphoma
Hyperthyroidism, Lymphadenopathy, Hypothyroidism, Hashimoto thyroiditis, Goiter ORPHA:97285
Immunodeficiency 54
Splenomegaly, Adrenocorticotropic hormone excess, Adrenal insufficiency, Lymphadenopathy OMIM:609981
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy OMIM:618987
Immunodeficiency With Hyper-Igm, Type 4
Absence of lymph node germinal center OMIM:608184
Immunodeficiency 27A
Splenomegaly, Enlarged mesenteric lymph node, Lymphadenopathy, Hepatosplenomegaly OMIM:209950
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy, Bone marrow hypocellularity OMIM:613987
Immunodeficiency 103, Susceptibility To Fungal Infections
Lymphadenopathy OMIM:212050
Roifman Syndrome
Delayed proximal femoral epiphyseal ossification, Hypogonadotropic hypogonadism, Lymphadenopathy,... ORPHA:353298
Fish-Eye Disease
Splenomegaly, Lymphadenopathy ORPHA:79292
Middle Ear Neuroendocrine Tumor
Neuroendocrine neoplasm, Chronic noninfectious lymphadenopathy, Carcinoid tumor ORPHA:100084
Caspase 8 Deficiency
Splenomegaly, Lymphadenopathy OMIM:607271
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Primary testicular failure, Abnormal lymph node morphology, Lymphadenopathy, He... ORPHA:85450
Medullary Thyroid Carcinoma
Primary hyperparathyroidism, Lymphadenopathy, Pheochromocytoma, Elevated circulating calcitonin c... ORPHA:1332
Classic Mycosis Fungoides
Splenomegaly, Lymphadenopathy ORPHA:2584
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Familial Cold Autoinflammatory Syndrome 2
Splenomegaly, Lymphadenopathy OMIM:611762
Acquired Hypertrichosis Lanuginosa
Ovarian neoplasm, Lymphadenopathy ORPHA:2221
Immunodeficiency 109 With Lymphoproliferation
Splenomegaly, Generalized lymphadenopathy OMIM:620282
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, Absence of lymph node germinal center ORPHA:277
Pleural Mesothelioma
Lymphadenopathy ORPHA:50251
Activated Pi3K-Delta Syndrome
Splenomegaly, Recurrent tonsillitis, Lymphadenopathy ORPHA:397596
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Splenomegaly, Thyroiditis, Lymphadenopathy OMIM:619375
Pseudomyxoma Peritonei
Lymphadenopathy ORPHA:26790
Tularemia
Abnormal nasopharyngeal adenoid morphology, Cervical lymphadenopathy, Mediastinal lymphadenopathy... ORPHA:3392
Immunodeficiency 105
Hepatosplenomegaly, Absence of lymph node germinal center OMIM:619924
Symptomatic Form Of Hfe-Related Hemochromatosis
Diabetes mellitus, Hypogonadotropic hypogonadism, Testicular atrophy, Splenomegaly, Osteoporosis,... ORPHA:465508
Congenital Toxoplasmosis
Lymphadenopathy ORPHA:858
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Splenomegaly, Lymphadenopathy OMIM:618495
Lymphatic Filariasis
Orchitis, Lymphadenitis, Abnormality of the lymphatic system, Epididymitis, Vaginal hydrocele, Ly... ORPHA:2035
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Splenomegaly, Lymphadenopathy OMIM:150550
Lig4 Syndrome
Hypoplasia of penis, Cryptorchidism, Lymphadenopathy, Type II diabetes mellitus, Hypothyroidism ORPHA:99812
Immunodeficiency, Common Variable, 1
Splenomegaly, Lymphadenopathy OMIM:607594
Cold Agglutinin Disease
Splenomegaly, Lymphadenopathy ORPHA:56425
Anaplastic Thyroid Carcinoma
Goiter, Nodular goiter, Anaplastic thyroid carcinoma, Lymphadenopathy ORPHA:142
Immunodeficiency 98 With Autoinflammation, X-Linked
Myelofibrosis, Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity, Type I diabetes mellitus OMIM:301078
Myotonic Dystrophy 1
Hypogonadism, Cholelithiasis, Testicular atrophy OMIM:160900
Niemann-Pick Disease, Type A
Splenomegaly, Osteoporosis, Lymphadenopathy OMIM:257200
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Osteopenia, Hypopituitarism, Absent peripheral lymph nodes in presence of infection ORPHA:98813
Ras-Associated Autoimmune Leukoproliferative Disorder
Splenomegaly, Follicular hyperplasia OMIM:614470
Heme Oxygenase 1 Deficiency
Asplenia, Cervical lymphadenopathy, Lymphadenopathy OMIM:614034
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
H Syndrome
Diabetes mellitus, Osteolysis, Lymphadenopathy, Hepatosplenomegaly, Azoospermia, Hypogonadism, De... ORPHA:168569
Papa Syndrome
Type I diabetes mellitus, Lymphadenopathy ORPHA:69126
Lymphoproliferative Syndrome 2
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly OMIM:615122
Joint Contractures, Osteochondromas, And B-Cell Lymphoma
Generalized lymphadenopathy, Reduced bone mineral density OMIM:620232
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Hypothyroidism, Lymphadenopathy, Hepatosplenomegaly OMIM:619750
Poems Syndrome
Sclerosis of hand bone, Diabetes mellitus, Sclerosis of foot bone, Abnormality of the endocrine s... ORPHA:2905
Immunodeficiency 7
Splenomegaly, Lymphadenopathy OMIM:615387
Aggressive Systemic Mastocytosis
Hypersplenism, Osteoporosis, Osteolysis, Lymphadenopathy, Hepatosplenomegaly ORPHA:98850
Systemic-Onset Juvenile Idiopathic Arthritis
Splenomegaly, Lymphadenopathy ORPHA:85414
Cinca Syndrome
Lymphadenopathy, Hepatosplenomegaly OMIM:607115
Roifman Syndrome
Splenomegaly, Lymphadenopathy OMIM:616651
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphadenitis, Abnormal lymph node morphology, Lymphadenopathy, Hepatosplenomegaly ORPHA:911
Gamma-Heavy Chain Disease
Splenomegaly, Osteolysis, Lymphadenopathy ORPHA:100026
Rhabdoid Tumor
Lymphadenopathy ORPHA:69077
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate... OMIM:305400
Immunodeficiency 10
Lymphadenopathy OMIM:612783
Griscelli Syndrome Type 2
Splenomegaly, Lymphadenopathy ORPHA:79477
Testicular Agenesis
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... ORPHA:325124
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy OMIM:618165
Deafness-Lymphedema-Leukemia Syndrome
Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy ORPHA:3226
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Splenomegaly, Lymphadenitis, Recurrent tonsillitis, Lymphadenopathy, Hepatosplenomegaly OMIM:618935
Leishmaniasis
Splenomegaly, Lymphadenopathy ORPHA:507
Nephroblastoma
Lymphadenopathy ORPHA:654
Autoimmune Lymphoproliferative Syndrome
Splenomegaly, Chronic noninfectious lymphadenopathy, Follicular hyperplasia OMIM:601859
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymph node hypoplasia, Absent tonsils ORPHA:276
Cutaneous Mastocytoma
Lymphadenopathy ORPHA:79455
Castleman Disease
Myelofibrosis, Generalized lymphadenopathy, Follicular hyperplasia, Mediastinal lymphadenopathy, ... ORPHA:160
Boutonneuse Fever
Cervical lymphadenopathy, Lymphadenopathy ORPHA:83313
Autoimmune Lymphoproliferative Syndrome, Type Iia
Splenomegaly, Follicular hyperplasia, Chronic noninfectious lymphadenopathy, Lymphadenopathy OMIM:603909
Squamous Cell Carcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424019
Felty Syndrome
Splenomegaly, Osteolysis, Bone marrow hypocellularity, Lymphadenopathy ORPHA:47612
Cinca Syndrome
Reduced bone mineral density, Splenomegaly, Lymphadenopathy ORPHA:1451
Pancreatoblastoma
Pancreatic calcification, Abnormal lymph node morphology ORPHA:677
Sézary Syndrome
Splenomegaly, Lymphadenopathy ORPHA:3162
Lymphoproliferative Syndrome, X-Linked, 1
Splenomegaly, Lymphadenopathy OMIM:308240
Carcinoid Syndrome
Chronic noninfectious lymphadenopathy, Pulmonary carcinoid tumor, Small intestine carcinoid, Para... ORPHA:100093
Omenn Syndrome
Splenomegaly, Hypothyroidism, Thyroiditis, Lymphadenopathy ORPHA:39041
Griscelli Syndrome
Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy ORPHA:381
Wolfram Syndrome 1
Diabetes mellitus, Hypothyroidism, Diabetes insipidus, Testicular atrophy OMIM:222300
Pulmonary Non-Tuberculous Mycobacterial Infection
Lymphadenopathy ORPHA:411703
Immunodeficiency 91 And Hyperinflammation
Lymphadenopathy, Hepatosplenomegaly OMIM:619644
Purine Nucleoside Phosphorylase Deficiency
Splenomegaly, Lymph node hypoplasia OMIM:613179
Proteasome-Associated Autoinflammatory Syndrome 4
Splenomegaly, Lymphadenopathy OMIM:619183
Cyclic Neutropenia
Cervical lymphadenopathy, Recurrent tonsillitis, Lymphadenopathy ORPHA:2686
Proteasome-Associated Autoinflammatory Syndrome 2
Lymphadenopathy OMIM:618048
Omenn Syndrome
Splenomegaly, Hypoplasia of the thymus, Lymphadenopathy OMIM:603554
Primary Myelofibrosis
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly ORPHA:824
American Trypanosomiasis
Splenomegaly, Lymphadenopathy ORPHA:3386
Scrub Typhus
Splenomegaly, Lymphadenopathy ORPHA:83317
Immunodeficiency 97 With Autoinflammation
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Hepatosplenomegaly OMIM:619802
Melkersson-Rosenthal Syndrome
Lymphadenopathy ORPHA:2483
Histiocytosis-Lymphadenopathy Plus Syndrome
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Splenomega... OMIM:602782
Mixed Connective Tissue Disease
Splenomegaly, Mediastinal lymphadenopathy, Osteolysis, Lymphadenopathy ORPHA:809
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Enlarged tonsils, Thyroiditis, Lymphadenopathy, Hepatosplenomegaly, Type I diabetes mellitus, Hyp... OMIM:606367
Cutaneous Neuroendocrine Carcinoma
Carcinoid tumor, Chronic noninfectious lymphadenopathy, Merkel cell skin cancer ORPHA:79140
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Splenomegaly, Lymphadenopathy OMIM:616100
Diffuse Cutaneous Mastocytosis
Abnormality of the spleen, Lymphadenopathy ORPHA:79456
Carney Triad
Mediastinal lymphadenopathy, Lymphadenopathy, Adrenocortical adenoma, Pheochromocytoma, Paragangl... ORPHA:139411
Lymphoproliferative Syndrome 1
Splenomegaly, Lymphadenopathy OMIM:613011
Klatskin Tumor
Lymphadenopathy ORPHA:99978
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Type I diabetes mellitus, Hypothyroidism, Lymphadenopathy OMIM:304790
Agammaglobulinemia, X-Linked
Lymph node hypoplasia, Epididymitis, Prostatitis OMIM:300755
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Type I diabetes mellitus, Splenomegaly, Thyroiditis, Lymphadenopathy ORPHA:436159
Immunodeficiency, Common Variable, 8, With Autoimmunity
Generalized lymphadenopathy, Splenomegaly, Thyroiditis, Lymphadenopathy, Type I diabetes mellitus... OMIM:614700
Combined Immunodeficiency Due To Crac Channel Dysfunction
Splenomegaly, Lymphadenopathy ORPHA:169090
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphadenopathy, Hepatosplenomegaly ORPHA:169154
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... OMIM:157640
Hypocomplementemic Urticarial Vasculitis
Splenomegaly, Lymphadenopathy ORPHA:36412
Familial Pancreatic Carcinoma
Pancreatic adenocarcinoma, Diabetes mellitus, Lymphadenopathy, Hepatosplenomegaly, Ovarian carcinoma ORPHA:1333
Legionnaires Disease
Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy ORPHA:549
Macrophage Activation Syndrome
Splenomegaly, Lymphadenopathy ORPHA:158061
Acute Promyelocytic Leukemia
Metrorrhagia, Lymphadenopathy ORPHA:520
Hyperimmunoglobulinemia D With Periodic Fever
Lymphadenopathy ORPHA:343
Immunodeficiency With Hyper-Igm, Type 1
Splenomegaly, Enlarged tonsils, Absence of lymph node germinal center OMIM:308230
Malt Lymphoma
Abnormality of the thyroid gland, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:52417
Malakoplakia
Orchitis, Prostate neoplasm, Abnormality of the menstrual cycle, Follicular hyperplasia ORPHA:556
Familial Hemophagocytic Lymphohistiocytosis
Splenomegaly, Lymphadenopathy ORPHA:540
Immunodeficiency 31C
Osteopenia, Diabetes mellitus, Splenomegaly, Lymphadenopathy, Delayed puberty, Hypothyroidism OMIM:614162
Farber Disease
Osteoporosis, Lymphadenopathy, Hepatosplenomegaly ORPHA:333
Mevalonic Aciduria
Fluctuating splenomegaly, Lymphadenopathy, Hepatosplenomegaly OMIM:610377
Acute Interstitial Pneumonia
Lymphadenopathy ORPHA:79126
Neuroendocrine Tumor Of The Colon
Increased serum serotonin, Carcinoid tumor, Chronic noninfectious lymphadenopathy, Atypical pulmo... ORPHA:100080
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Splenomegaly, Lymphadenitis, Lymphadenopathy OMIM:615895
Igg4-Related Submandibular Gland Disease
Abnormality of the thyroid gland, Prostatitis, Enlarged lacrimal glands, Abnormal pancreas morpho... ORPHA:449432
Drug Reaction With Eosinophilia And Systemic Symptoms
Thyroiditis, Lymphadenopathy ORPHA:139402
Aregenerative Anemia
Bone marrow hypocellularity, Lymphadenopathy ORPHA:101096
Hyper-Igd Syndrome
Splenomegaly, Lymphadenitis, Lymphadenopathy, Hepatosplenomegaly OMIM:260920
X-Linked Intellectual Disability, Snyder Type
Hypospadias, Cryptorchidism, Osteoporosis, Abnormality of the Leydig cells, Testicular atrophy ORPHA:3063
Hemophagocytic Lymphohistiocytosis, Familial, 2
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly OMIM:603553
Hemophagocytic Lymphohistiocytosis, Familial, 1
Splenomegaly, Lymphadenopathy OMIM:267700
Coccidioidomycosis
Abnormal sperm morphology, Abnormality of the endocrine system, Abnormality of the spleen, Medias... ORPHA:228123
Systemic Mastocytosis With Associated Hematologic Neoplasm
Splenomegaly, Osteoporosis, Lymphadenopathy ORPHA:98849
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Splenomegaly, Lymphadenitis, Lymphadenopathy OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Splenomegaly, Lymphadenitis, Lymphadenopathy OMIM:233710
Kikuchi-Fujimoto Disease
Generalized lymphadenopathy, Splenomegaly, Cervical lymphadenopathy, Abnormal lymph node morpholo... ORPHA:50918
T-Cell Immunodeficiency With Thymic Aplasia
Hypothyroidism, Aplasia of the thymus, Thyroiditis, Lymphadenopathy ORPHA:83471
Multiple Myeloma
Osteopenia, Splenomegaly, Lymphadenopathy ORPHA:29073
Pulmonary Capillary Hemangiomatosis
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:199241
Proteasome-Associated Autoinflammatory Syndrome 3
Splenomegaly, Lymphadenopathy OMIM:617591
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Inappropriate antidiuretic hormone secretion, Absence of lymph node germinal center, Hepatospleno... ORPHA:79124
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Splenomegaly, Lymphadenitis, Lymphadenopathy OMIM:233690
Lesch-Nyhan Syndrome
Testicular atrophy OMIM:300322
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Lymphadenopathy OMIM:617099
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Orchitis, Splenomegaly, Lymphadenopathy ORPHA:32960
Graft Versus Host Disease
Lymphadenopathy, Hepatosplenomegaly ORPHA:39812
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... ORPHA:99889
Pediatric Systemic Lupus Erythematosus
Lymphadenopathy ORPHA:93552
Spondyloenchondrodysplasia With Immune Dysregulation
Sclerosis of skull base, Hypothyroidism, Lymphadenopathy OMIM:607944
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Splenomegaly, Primary amenorrhea, Lymphadenopathy, Polysplenia OMIM:619418
Familial Mediterranean Fever
Orchitis, Splenomegaly, Lymphadenopathy ORPHA:342
Waldenström Macroglobulinemia
Splenomegaly, Lymphadenopathy ORPHA:33226
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hyperthyroidism, Abnormality of the endocrine system, Splenomegaly, Thyroiditis, Lymphadenopathy,... ORPHA:37042
Hennekam Syndrome
Craniosynostosis, Splenomegaly, Pulmonary lymphangiectasia, Lymphadenopathy, Lymphangioma ORPHA:2136
Autoimmune Lymphoproliferative Syndrome
Premature ovarian insufficiency, Chronic noninfectious lymphadenopathy, Hypersplenism, Splenomega... ORPHA:3261
Chediak-Higashi Syndrome
Splenomegaly, Lymphadenopathy OMIM:214500
Lymphangioleiomyomatosis
Pulmonary lymphangiomyomatosis, Abnormality of the lymphatic system, Abnormal morphology of femal... ORPHA:538
Acute Generalized Exanthematous Pustulosis
Lymphadenopathy ORPHA:293173
Autosomal Recessive Malignant Osteopetrosis
Craniosynostosis, Splenomegaly, Reduced bone mineral density, Lymphadenopathy, Osteopetrosis ORPHA:667
Selective Igm Deficiency
Lymphadenitis, Thyroid carcinoma, Hashimoto thyroiditis, Lymphadenopathy ORPHA:331235
Igg4-Related Ophthalmic Disease
Orchitis, Abnormality of the anterior pituitary, Enlarged lacrimal glands, Thyroiditis, Lymphaden... ORPHA:449563
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Cervical lymphadenopathy, Lymphadenopathy OMIM:617718
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Bone marrow hypocellularity, Type I diabetes m... OMIM:615688
Immunodeficiency 55
Lymphadenopathy OMIM:617827
Q Fever
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly ORPHA:781
Chikungunya
Periostitis, Cervical lymphadenopathy, Osteolysis, Lymphadenopathy ORPHA:324625
Granulomatous Disease, Chronic, X-Linked
Splenomegaly, Lymphadenitis, Lymphadenopathy OMIM:306400
Common Variable Immunodeficiency
Splenomegaly, Lymphadenopathy ORPHA:1572
Gallbladder Neuroendocrine Tumor
Neuroendocrine neoplasm, Chronic noninfectious lymphadenopathy ORPHA:100086
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Absent peripheral lymph nodes in presence of infection OMIM:600802
Steinert Myotonic Dystrophy
Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g... ORPHA:273
Neuroendocrine Neoplasm Of Appendix
Chronic noninfectious lymphadenopathy, Adrenocorticotropic hormone excess, Ovarian neoplasm, Inte... ORPHA:100079
Sarcoidosis
Hyperthyroidism, Diabetes insipidus, Abnormal reproductive system morphology, Bone cyst, Enlarged... ORPHA:797
Tangier Disease
Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Hepatosplenomegaly ORPHA:31150
Sarcoidosis, Susceptibility To, 1
Generalized lymphadenopathy, Splenomegaly, Mediastinal lymphadenopathy, Bone cyst, Enlarged lacri... OMIM:181000
Brucellosis
Hypersplenism, Splenomegaly, Orchitis, Epididymitis, Lymphadenopathy ORPHA:1304
Chédiak-Higashi Syndrome
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly ORPHA:167
Ileal Neuroendocrine Tumor
Small intestine carcinoid, Increased serum serotonin, Lymphadenopathy ORPHA:100078
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Lymphadenopathy, Hepatosplenomegaly ORPHA:85408
Behçet Disease
Orchitis, Splenomegaly, Lymphadenopathy ORPHA:117
Igg4-Related Dacryoadenitis And Sialadenitis
Enlarged lacrimal glands, Thyroiditis, Lymphadenopathy, Enlargement of parotid gland, Nodular goi... ORPHA:79078
Adenocarcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424016
Immunodeficiency 82 With Systemic Inflammation
Osteomalacia, Follicular hyperplasia, Splenomegaly, Lymphadenopathy, Anoperineal fistula OMIM:619381
Crimean-Congo Hemorrhagic Fever
Orchitis, Splenomegaly, Epididymitis, Lymphadenopathy, Adrenal insufficiency, Inappropriate antid... ORPHA:99827
Proteasome-Associated Autoinflammatory Syndrome 1
Splenomegaly, Elevated circulating thyroid-stimulating hormone concentration, Epididymitis, Irreg... OMIM:256040
Igg4-Related Kidney Disease
Lymphadenitis, Abnormality of the anterior pituitary, Thyroiditis, Lymphadenopathy, Sialadenitis,... ORPHA:449395
Marburg Hemorrhagic Fever
Orchitis, Lymphadenopathy ORPHA:99826
African Trypanosomiasis
Abnormality of the menstrual cycle, Abnormality of the endocrine system, Splenomegaly, Hepatosple... ORPHA:3385
Primary Sjögren Syndrome
Vaginal dryness, Thyroiditis, Parotitis, Lymphadenopathy ORPHA:289390
Blau Syndrome
Splenomegaly, Abnormal salivary gland morphology, Lymphadenopathy 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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