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Gene: Phactr1 MGI:2659021

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Gene Summary

Name:
phosphatase and actin regulator 1
Synonyms:
9630030F18Rik,  Rpel1

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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
enlarged seminal vesicle Phactr1em1(IMPC)Mbp HOM Late adult 0.00
decreased circulating alanine transaminase level Phactr1em1(IMPC)Mbp HOM Late adult 2.17×10-07
abnormal kidney morphology Phactr1em1(IMPC)Mbp HOM Late adult 0.00
increased bone mineral content Phactr1em1(IMPC)Mbp HOM Early adult 7.65×10-07
abnormal seminal vesicle morphology Phactr1em1(IMPC)Mbp HOM Late adult 0.00
abnormal skin morphology Phactr1em1(IMPC)Mbp HOM Late adult 0.00
abnormal lymph node morphology Phactr1em1(IMPC)Mbp HOM Late adult 0.00
abnormal spleen morphology Phactr1em1(IMPC)Mbp HOM Late adult 0.00
abnormal coat/ hair morphology Phactr1em1(IMPC)Mbp HOM Middle aged adult 2.95×10-07
decreased circulating aspartate transaminase level Phactr1em1(IMPC)Mbp HOM Late adult 1.17×10-24
abnormal eye morphology Phactr1em1(IMPC)Mbp HOM Late adult 0.00
enlarged lymph nodes Phactr1em1(IMPC)Mbp HOM Late adult 0.00
decreased leukocyte cell number Phactr1em1(IMPC)Mbp HOM Late adult 3.89×10-06

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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

20 Images

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X-ray

XRay Images Whole Body Dorso Ventral

27 Images

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X-ray

XRay Images Whole Body Lateral Orientation

9 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Human diseases caused by Phactr1 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.

The table below shows human diseases associated to Phactr1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Developmental And Epileptic Encephalopathy 70
Cryptorchidism OMIM:618298
Infantile Spasms Syndrome
ORPHA:3451

The table below shows human diseases predicted to be associated to Phactr1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cystic Angiomatosis Of Bone, Diffuse
Cystic angiomatosis of bone OMIM:123880
Pulmonary Nodular Lymphoid Hyperplasia
Plasmacytosis, Follicular hyperplasia, Mediastinal lymphadenopathy ORPHA:60026
Hereditary Progressive Mucinous Histiocytosis
Lymphadenopathy, Mucinous histiocytosis ORPHA:158025
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center, Abnormality of the liver OMIM:235550
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Reticuloendotheliosis, X-Linked
Jaundice, Anemia, Lymphadenopathy, Hepatosplenomegaly OMIM:312500
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Burkitt Lymphoma
Abnormal lymph node morphology, Abnormality of the pancreas, Abnormality of the liver, Hyperurice... ORPHA:543
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Hemophagocytic Lymphohistiocytosis, Familial, 4
Anemia, Hypertriglyceridemia, Jaundice, Lymphadenopathy, Increased circulating ferritin concentra... OMIM:603552
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormal lymph node morphology, Anemia, Brain abscess, Abnormality of the pancreas, Abnormal test... ORPHA:54251
Kerion Celsi
Recurrent cutaneous abscess formation, Lymphadenopathy ORPHA:499
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Hepatitis, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemi... ORPHA:444463
Immunodeficiency 75 With Lymphoproliferation
Lymphadenopathy, Follicular hyperplasia, Decreased proportion of class-switched memory B cells, H... OMIM:619126
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cell... OMIM:212050
Distal Osteosclerosis
Diaphyseal sclerosis, Craniofacial osteosclerosis, Hyperostosis OMIM:126250
Immunodeficiency 104
Splenomegaly, Lymphadenopathy, T lymphocytopenia, Hepatomegaly OMIM:608971
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Kimura Disease
Lymphadenopathy, Follicular hyperplasia, Abnormal salivary gland morphology, Eosinophilia ORPHA:482
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Hepatosplenomegaly, Lymphadenopathy, Increased circulating ferritin concentration, Hemoph... OMIM:613101
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased B cell count, Nephrotic syndrome, Stage 5 chronic kidney disease, Generalized lymphaden... OMIM:615559
Immunodeficiency 76
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Lymphadenopathy, Splenomegaly OMIM:619164
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Coombs-positive hemolytic anemia, Decreased proporti... OMIM:617514
Immunodeficiency 105
Increased B cell count, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, ... OMIM:619924
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Adrenocorticotropic hormone excess, Elevated carcinoembryo... ORPHA:100083
Granulomatous Slack Skin
Abnormal lymph node morphology, Nephrocalcinosis, Hypercalcemia, Acute kidney injury ORPHA:33111
Immunodeficiency 27A
Anemia, Hepatosplenomegaly, Lymphadenopathy, Thrombocytosis, Leukocytosis, Histiocytosis, Enlarge... OMIM:209950
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Autoimmune thrombocytopenia, L... OMIM:619846
Mu-Heavy Chain Disease
Anemia, Abnormal B cell count, Lymphadenopathy, Nephropathy, Hepatomegaly, Bence Jones Proteinuri... ORPHA:100024
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
T lymphocytopenia, Increased proportion of transitional B cells, Lymphadenopathy, Decreased propo... OMIM:615513
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Genital ulcers, B lymphocytopenia, Generalized lymphadenopathy, Lymphopenia, Abnormally low T cel... OMIM:602450
Autoinflammation With Episodic Fever And Lymphadenopathy
Lymphadenopathy, Hepatomegaly, Splenomegaly, Microcytic anemia, Recurrent tonsillitis OMIM:618852
Isolated Splenogonadal Fusion
Abnormal epididymis morphology, Abnormality of the scrotum, Testicular mass, Polysplenia, Bilater... ORPHA:457083
Ras-Associated Autoimmune Leukoproliferative Disorder
Splenomegaly, Hemolytic anemia, Lymphocytosis, Pancytopenia, Autoimmune thrombocytopenia, Follicu... OMIM:614470
Familial Cold Autoinflammatory Syndrome 2
Elevated circulating C-reactive protein concentration, Lymphadenopathy, Splenomegaly, Leukocytosis OMIM:611762
Lymphoproliferative Syndrome 1
Leukopenia, Anemia, Pancytopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymph... OMIM:613011
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Lymphadenopathy, Hepatosplenomegaly OMIM:618261
Heme Oxygenase 1 Deficiency
Asplenia, Hemolytic anemia, Coombs-positive hemolytic anemia, Hematuria, Nephritis, Lymphadenopat... OMIM:614034
Immunodeficiency 97 With Autoinflammation
Reduced natural killer cell count, Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T ... OMIM:619802
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, Autoimmune hem... OMIM:619220
Mast Cell Sarcoma
Mastocytosis, Lymphadenopathy, Mediastinal lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:66661
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopeni... OMIM:300853
Alpha-Heavy Chain Disease
Anemia, Lymphadenopathy, Hepatomegaly, Hypocalcemia, Splenomegaly ORPHA:100025
Lymphoproliferative Syndrome, X-Linked, 1
Fulminant hepatitis, Lymphocytosis, Pancytopenia, Lymphadenopathy, Thrombocytopenia, Hemophagocyt... OMIM:308240
Carcinoma Of Esophagus
Lymphadenopathy ORPHA:70482
Generalized Eruptive Histiocytosis
Hypereosinophilia, Lymphadenopathy, Histiocytosis, Leukemia ORPHA:157991
Leishmaniasis
Leukopenia, Anemia, Abnormal macrophage morphology, Pancytopenia, Lymphadenopathy, Hepatomegaly, ... ORPHA:507
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy, Epididymitis OMIM:608106
Immunodeficiency 64 With Lymphoproliferation
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Hepatosplenomegaly, In... OMIM:618534
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Abnormal lymph node morphology, Nodular goiter, Chronic noninfectious lymphadenopathy, Goiter ORPHA:97290
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased B cell count, Lymphadenopathy, Increased proportion of memory T cells, Hepatosplenomegaly OMIM:618982
Reticular Dysgenesis
Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus, Lymphopenia OMIM:267500
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:86893
Hereditary Amyloidosis With Primary Renal Involvement
Abnormal lymph node morphology, Abnormal testis morphology, Hepatosplenomegaly, Oligospermia, Hep... ORPHA:85450
Familial Papillary Or Follicular Thyroid Carcinoma
Abnormal lymph node morphology, Nodular goiter, Chronic noninfectious lymphadenopathy, Goiter ORPHA:319487
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
B lymphocytopenia, Lymphadenopathy, Abnormal CD4:CD8 ratio, Neutropenia, Intermittent thrombocyto... OMIM:150550
Griscelli Syndrome Type 2
Jaundice, Pancytopenia, Lymphadenopathy, Hemophagocytosis, Hepatomegaly, Hyperlipidemia, Neutrope... ORPHA:79477
Cinca Syndrome
Anemia, Hepatosplenomegaly, Lymphadenopathy, Elevated circulating C-reactive protein concentratio... OMIM:607115
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia, Cervical lymphadenopathy OMIM:618987
Macrophage Activation Syndrome
Abnormal natural killer cell count, Anemia, Hypertriglyceridemia, Hepatitis, Lymphadenopathy, Inc... ORPHA:158061
Leukocyte Adhesion Deficiency, Type Iii
Abnormal lymph node morphology, Anemia, Hepatosplenomegaly, Leukocytosis, Extramedullary hematopo... OMIM:612840
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of marginal zone B cells, Coombs-positive hemolytic anemia, Autoimmune throm... OMIM:619375
Follicular Lymphoma
Lymphadenopathy, Splenomegaly, Mediastinal lymphadenopathy, Abnormality of the peritoneum ORPHA:545
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased total bilirubin, Leukopenia, Anemia, Increased VLDL cholesterol concentration, Jaundice... OMIM:267700
Immunodeficiency 32A
Granuloma, Lymphadenopathy, Lymphadenitis OMIM:614893
Omenn Syndrome
Anemia, Hypoplasia of the thymus, B lymphocytopenia, Severe B lymphocytopenia, Lymphadenopathy, H... OMIM:603554
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Absent tonsils, Absence of lymph node germinal... ORPHA:277
Fish-Eye Disease
Lymphadenopathy, Decreased HDL cholesterol concentration, Splenomegaly, Hepatomegaly ORPHA:79292
Autoimmune Lymphoproliferative Syndrome, Type Iia
Chronic noninfectious lymphadenopathy, Increased B cell count, Nephrotic syndrome, Coombs-positiv... OMIM:603909
Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:98293
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center, Neutropenia OMIM:606843
Immunodeficiency 91 And Hyperinflammation
Hemolytic-uremic syndrome, Renal insufficiency, Nephrotic syndrome, Neutrophilia, Membranoprolife... OMIM:619644
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Purine Nucleoside Phosphorylase Deficiency
Increased circulating inosine concentration, Neutropenia in presence of anti-neutropil antibodies... OMIM:613179
Autoimmune Lymphoproliferative Syndrome
Chronic noninfectious lymphadenopathy, Coombs-positive hemolytic anemia, Neutropenia in presence ... OMIM:601859
Schnitzler Syndrome
Anemia, Lymphadenopathy, Leukocytosis, Hepatomegaly, Splenomegaly ORPHA:37748
Rosaï-Dorfman Disease
Anemia, Lymphadenopathy ORPHA:158014
Rhabdoid Tumor
Anemia, Neoplasm of the liver, Hematuria, Lymphadenopathy, Hypercalcemia, Thrombocytopenia ORPHA:69077
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Absence of lymph node germinal center, Autoimmune thrombocytopenia OMIM:608184
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Reduced natural killer cell count, Decreased proportion of CD4-positive helper T cells, Jaundice,... ORPHA:276
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphadenitis, Perianal abscess, Hemolytic anemia, Nephrotic syndrome, Granuloma, Lymphopenia, He... OMIM:618935
Immunodeficiency 54
Reduced natural killer cell count, Adrenocorticotropic hormone excess, Lymphadenopathy, Hepatomeg... OMIM:609981
Indolent Systemic Mastocytosis
Mastocytosis, Lymphadenopathy, Increased proportion of CD25+ mast cells, Hepatomegaly, Abnormal m... ORPHA:98848
Desmoplastic Small Round Cell Tumor
Anemia, Neoplasm of the pancreas, Abnormality of the peritoneum, Lymphadenopathy, Mediastinal lym... ORPHA:83469
Immunodeficiency, Common Variable, 1
B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy, Decreas... OMIM:607594
Griscelli Syndrome
Leukopenia, Abnormal circulating lipid concentration, Hepatitis, Jaundice, Abnormality of neutrop... ORPHA:381
Combined Immunodeficiency Due To Zap70 Deficiency
Abnormal lymph node morphology, Lymphadenitis, Nephrotic syndrome, Lymphocytosis, Decreased propo... ORPHA:911
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased total bilirubin, Leukopenia, Anemia, Jaundice, Pancytopenia, Hepatosplenomegaly, Lympha... OMIM:603553
Tularemia
Anemia, Brain abscess, Cutaneous abscess, Abnormal nasopharyngeal adenoid morphology, Lymphadenop... ORPHA:3392
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, B lymphocytopenia, Lymphadenopathy, Elevated circulating C-reactive prot... OMIM:618048
Classic Mycosis Fungoides
Lymphadenopathy, Splenomegaly, Abnormal lymphocyte morphology, Hepatomegaly ORPHA:2584
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Lymphadenitis, Leukopenia, T lymphocytopenia, Monocytopenia, B lymphocytopenia, Impaired neutroph... OMIM:618986
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
T lymphocytopenia, Lymphocytosis, Decreased proportion of CD3-positive T cells, Decreased proport... ORPHA:169154
Systemic-Onset Juvenile Idiopathic Arthritis
Elevated circulating C-reactive protein concentration, Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:85414
Deafness-Lymphedema-Leukemia Syndrome
Lymphadenopathy, Abnormal neutrophil count, Bone marrow hypocellularity, Leukocytosis, Myeloproli... ORPHA:3226
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Decreased CD4:CD8 ratio, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Splenomegaly OMIM:618495
Immunodeficiency 7
Hypereosinophilia, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Neutropenia, Splen... OMIM:615387
Immunodeficiency, Common Variable, 2
Lymphadenopathy, Follicular hyperplasia, Splenomegaly, Hepatomegaly OMIM:240500
Congenital Toxoplasmosis
Anemia, Jaundice, Lymphadenopathy, Hepatomegaly, Thrombocytopenia ORPHA:858
Caspase 8 Deficiency
Lymphadenopathy, Decreased CD4:CD8 ratio, Splenomegaly OMIM:607271
Lymphoproliferative Syndrome 2
Pancytopenia, Hepatosplenomegaly, Lymphadenopathy, Hemophagocytosis, Hepatomegaly, Aplastic anemi... OMIM:615122
Pfapa Syndrome
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:42642
Primary Myelofibrosis
Anemia, Pancytopenia, Hepatosplenomegaly, Poikilocytosis, Lymphadenopathy, Thrombocytosis, Leukoc... ORPHA:824
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Hepatosplenomegaly, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Eleva... OMIM:619750
Immunodeficiency 98 With Autoinflammation, X-Linked
B lymphocytopenia, Autoimmune hemolytic anemia, Lymphadenopathy, Hemophagocytosis, Bone marrow hy... OMIM:301078
Castleman Disease
Anemia, Renal insufficiency, Jaundice, Ureteral obstruction, Generalized lymphadenopathy, Hematur... ORPHA:160
Cold Agglutinin Disease
Hemolytic anemia, Lymphadenopathy, Abnormal urinary color, Hepatomegaly, Splenomegaly ORPHA:56425
Aggressive Systemic Mastocytosis
Anemia, Hypersplenism, Pancytopenia, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of... ORPHA:98850
Adult-Onset Still Disease
Abnormal circulating lipid concentration, Hepatitis, Neutrophilia, Generalized lymphadenopathy, B... ORPHA:829
Lig4 Syndrome
Hypoplasia of penis, Pancytopenia, Lymphadenopathy, Cryptorchidism, Leukocytosis, Hepatomegaly, A... ORPHA:99812
Familial Hemophagocytic Lymphohistiocytosis
Anemia, Hypertriglyceridemia, Jaundice, Abnormal renal physiology, Lymphadenopathy, Increased cir... ORPHA:540
Cinca Syndrome
Anemia, Abnormal granulocyte morphology, Abnormality of neutrophils, Lymphadenopathy, Elevated ci... ORPHA:1451
Cyclic Neutropenia
Perianal abscess, Peritonitis, Decreased eosinophil count, Lymphopenia, Lymphadenopathy, Cyclic n... ORPHA:2686
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Thymic Neuroendocrine Tumor
Increased circulating prolactin concentration, Neoplasm of the thymus, Pituitary adenoma, Calcium... ORPHA:97289
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Lymphadenitis, Vesicoureteral reflux, Anemia, Hepatic fibrosis, Elevated circulating creatine kin... OMIM:615895
Boutonneuse Fever
Leukopenia, Renal insufficiency, Lymphadenopathy, Cervical lymphadenopathy, Thrombocytopenia ORPHA:83313
Lymphatic Filariasis
Hypereosinophilia, Lymphangiectasis, Lymphadenitis, Vaginal hydrocele, Abnormality of the scrotum... ORPHA:2035
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Leukocytosi... OMIM:617099
X-Linked Lymphoproliferative Disease
T lymphocytopenia, Hepatosplenomegaly, Increased T cell count, Bone marrow hypocellularity, Cervi... ORPHA:2442
Pancreatoblastoma
Abnormal lymph node morphology, Jaundice, Pancreatic calcification, Elevated maternal serum alpha... ORPHA:677
Omenn Syndrome
Anemia, Nephrotic syndrome, Lymphadenopathy, Leukocytosis, Eosinophilia, Hepatomegaly, Splenomega... ORPHA:39041
Gamma-Heavy Chain Disease
Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, ... ORPHA:100026
Mevalonic Aciduria
Anemia, Elevated urine mevalonic acid level, Hepatosplenomegaly, Elevated circulating creatine ki... OMIM:610377
Aregenerative Anemia
Reticulocytopenia, Abnormal proportion of CD8-positive T cells, Erythroid hypoplasia, Pancytopeni... ORPHA:101096
Classic Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly, Bone marrow hypocellularity, Hepatomegaly ORPHA:391
Roifman Syndrome
Hypogonadotropic hypogonadism, Lymphadenopathy, Eosinophilia, Hepatosplenomegaly ORPHA:353298
Legionnaires Disease
Splenomegaly, Hepatitis, Jaundice, Hematuria, Lymphopenia, Lymphadenopathy, Bone marrow hypocellu... ORPHA:549
Pleural Mesothelioma
Lymphadenopathy, Hepatomegaly ORPHA:50251
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anemia, Hepatitis, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Glomerulonephri... OMIM:304790
Immunodeficiency 10
Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy OMIM:612783
Niemann-Pick Disease, Type A
Sea-blue histiocytosis, Lymphadenopathy, Bone-marrow foam cells, Hepatomegaly, Prolonged neonatal... OMIM:257200
Acute Monoblastic/Monocytic Leukemia
Anemia, Lymphocytosis, Cervical lymphadenopathy, Acute monocytic leukemia, Oliguria, Leukocytosis... ORPHA:514
Acquired Hypertrichosis Lanuginosa
Lymphadenopathy, Ovarian neoplasm ORPHA:2221
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomeg... OMIM:616100
Pseudomyxoma Peritonei
Lymphadenopathy, Abnormality of the peritoneum ORPHA:26790
Systemic Mastocytosis With Associated Hematologic Neoplasm
Acute myeloid leukemia, Myeloid leukemia, Increased basophil count, Chronic lymphatic leukemia, C... ORPHA:98849
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Abnormal natural killer cell count, Anemia, T lymphocytopenia, Urinary retention, Jaundice, Pancy... ORPHA:79124
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Kikuchi-Fujimoto Disease
Abnormal lymph node morphology, Leukopenia, Anemia, Enlargement of parotid gland, Lymphocytosis, ... ORPHA:50918
Roifman Syndrome
Lymphadenopathy, Splenomegaly, Eosinophilia, Hepatomegaly OMIM:616651
Diffuse Cutaneous Mastocytosis
Abnormality of the liver, Lymphocytosis, Lymphadenopathy, Hepatomegaly, Myeloproliferative disord... ORPHA:79456
Sézary Syndrome
Lymphadenopathy, Splenomegaly, Abnormal lymphocyte morphology, Hepatomegaly ORPHA:3162
Proteasome-Associated Autoinflammatory Syndrome 3
Anemia, Lymphopenia, Lymphadenopathy, Hepatomegaly, Thrombocytopenia, Hypertriglyceridemia, Splen... OMIM:617591
Acute Promyelocytic Leukemia
Leukopenia, Anemia, Hematuria, Pancytopenia, Lymphadenopathy, Leukocytosis, Thrombocytopenia, Neu... ORPHA:520
Felty Syndrome
Anemia, Lymphadenopathy, Bone marrow hypocellularity, Hepatomegaly, Thrombocytopenia, Neutropenia... ORPHA:47612
Medullary Thyroid Carcinoma
Nodular goiter, Pheochromocytoma, Lymphadenopathy, Primary hyperparathyroidism, Abnormal liver pa... ORPHA:1332
Agammaglobulinemia, X-Linked
Anemia, T lymphocytopenia, B lymphocytopenia, Prostatitis, Hepatocellular carcinoma, Enteroviral ... OMIM:300755
Sting-Associated Vasculopathy, Infantile-Onset
Leukopenia, Anemia, Lymphopenia, Follicular hyperplasia, Thrombocytosis, Elevated circulating C-r... OMIM:615934
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased CD4:CD8 ratio, Hemolytic anemia, T lymphocytopenia, B lymphocytopenia, Decreased propor... OMIM:606367
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Chediak-Higashi Syndrome
Leukopenia, Anemia, Jaundice, Giant neutrophil granules, Lymphadenopathy, Hemophagocytosis, Hepat... OMIM:214500
Thyroid Lymphoma
Lymphadenopathy, Goiter ORPHA:97285
Immunodeficiency With Hyper-Igm, Type 1
Cirrhosis, Hemolytic anemia, Hepatitis, Sclerosing cholangitis, Enlarged tonsils, Hepatomegaly, C... OMIM:308230
Nephroblastoma
Lymphadenopathy, Hematuria, Neoplasm of the liver ORPHA:654
H Syndrome
Hypertriglyceridemia, Hypogonadism, Decreased testicular size, Enlarged kidney, Azoospermia, Hepa... ORPHA:168569
Proteasome-Associated Autoinflammatory Syndrome 4
Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Hepatomegaly OMIM:619183
Pediatric Systemic Lupus Erythematosus
Leukopenia, Renal insufficiency, Nephrotic syndrome, Microangiopathic hemolytic anemia, Hematuria... ORPHA:93552
Immunodeficiency, Common Variable, 8, With Autoimmunity
Chronic neutropenia, B lymphocytopenia, Generalized lymphadenopathy, Pancytopenia, Autoimmune thr... OMIM:614700
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
T lymphocytopenia, Lymphopenia, Absent peripheral lymph nodes in presence of infection, Impaired ... OMIM:600802
Kaposi Sarcoma
Abnormality of the spleen, Abnormality of the liver, Generalized lymphadenopathy ORPHA:33276
Familial Pancreatic Carcinoma
Pancreatic adenocarcinoma, Extrahepatic cholestasis, Peritoneal abscess, Neoplasm of the liver, J... ORPHA:1333
Anaplastic Thyroid Carcinoma
Nodular goiter, Lymphadenopathy, Goiter ORPHA:142
Klatskin Tumor
Extrahepatic cholestasis, Jaundice, Cholangiocarcinoma, Lymphadenopathy, Hepatomegaly ORPHA:99978
Autoimmune Lymphoproliferative Syndrome
Coombs-positive hemolytic anemia, Hepatocellular carcinoma, Reticulocytosis, Glomerulonephritis, ... ORPHA:3261
Multiple Myeloma
Anemia, Nephrotic syndrome, Acute kidney injury, Lymphadenopathy, Nephropathy, Hypercalcemia, Ele... ORPHA:29073
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Tubulointerstitial nephritis, Decreased prealbumin level, Nephrotic syndrome, Hepatitis, Neutrope... ORPHA:37042
Chédiak-Higashi Syndrome
Anemia, Hypertriglyceridemia, Neutropenia, Jaundice, Pancytopenia, Hepatosplenomegaly, Lymphadeno... ORPHA:167
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Leukopenia, Anemia, Lymphopenia, Pancytopenia, Hepatosplenomegaly, Lymphadenopathy, Thrombocytosi... OMIM:615688
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Lymphadenopathy, Proteinuria ORPHA:69126
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphocytosis, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Cervical l... OMIM:617718
Acute Interstitial Pneumonia
Elevated circulating creatinine concentration, Lymphadenopathy, Reduced hematocrit, Elevated circ... ORPHA:79126
Meige Disease
Absence of lymph node germinal center, Lymph node hypoplasia ORPHA:90186
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Lymphadenopathy, Hepatomegaly, Thrombocytopenia, Splenomegaly ORPHA:169090
Scrub Typhus
Lymphadenopathy, Renal insufficiency, Splenomegaly ORPHA:83317
Igg4-Related Kidney Disease
Nephrotic range proteinuria, Prostatitis, Sclerosing cholangitis, Eosinophilia, Sialadenitis, Lym... ORPHA:449395
Immunodeficiency 55
Lymphadenopathy, Neutropenia, Absent natural killer cells, Lymphopenia OMIM:617827
Mixed Connective Tissue Disease
Leukopenia, Hemolytic anemia, Lymphadenopathy, Nephropathy, Mediastinal lymphadenopathy, Hepatome... ORPHA:809
Carcinoid Syndrome
Chronic noninfectious lymphadenopathy, Hepatic necrosis, Abnormal B-type natriuretic peptide conc... ORPHA:100093
Hyper-Igd Syndrome
Lymphadenitis, Elevated urine mevalonic acid level, Renal angiomyolipoma, Neutrophilia, Hepatospl... OMIM:260920
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Lymphadenitis, Liver abscess, Granulomatosis, Lymphadenopathy, Rectal abscess, Hepatomegaly, Impa... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Lymphadenitis, Liver abscess, Granulomatosis, Lymphadenopathy, Rectal abscess, Hepatomegaly, Impa... OMIM:233710
Middle Ear Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100084
Igg4-Related Submandibular Gland Disease
Retroperitoneal fibrosis, Renal insufficiency, Prostatitis, Enlarged lacrimal glands, Cholangitis... ORPHA:449432
American Trypanosomiasis
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:3386
Thymic Aplasia
Hypocalcemic tetany, T lymphocytopenia, Coombs-positive hemolytic anemia, Atypical or prolonged h... ORPHA:83471
Brucellosis
Leukopenia, Anemia, Abnormality of the liver, Liver abscess, Hypersplenism, Granuloma, Lung absce... ORPHA:1304
Drug Reaction With Eosinophilia And Systemic Symptoms
Tubulointerstitial nephritis, Nephrotic syndrome, Hepatitis, Lymphocytosis, Lymphadenopathy, Eosi... ORPHA:139402
Squamous Cell Carcinoma Of The Anal Canal
Lymphadenopathy, Neoplasm of the liver ORPHA:424019
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Lymphadenitis, Liver abscess, Granulomatosis, Lymphadenopathy, Rectal abscess, Hepatomegaly, Impa... OMIM:233690
Hypocomplementemic Urticarial Vasculitis
Hematuria, Lymphadenopathy, Hepatomegaly, Proteinuria, Renal insufficiency, Splenomegaly ORPHA:36412
Cutaneous Mastocytoma
Lymphadenopathy ORPHA:79455
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Lymphadenopathy, Elevated circulating C-reactive protein concentration, Leukocytosis, Orchitis, P... ORPHA:32960
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Anemia, Cirrhosis, Microvesicular hepatic steatosis, Polysplenia, Macronodular cirrhosis, Hepatic... OMIM:619418
Histiocytosis-Lymphadenopathy Plus Syndrome
Pancreatic hypoplasia, Retroperitoneal fibrosis, Decreased response to growth hormone stimulation... OMIM:602782
Graft Versus Host Disease
Jaundice, Hyperbilirubinemia, Hepatosplenomegaly, Lymphadenopathy, Hemophagocytosis, Chronic hepa... ORPHA:39812
Marburg Hemorrhagic Fever
Leukopenia, Renal insufficiency, Elevated circulating creatinine concentration, Jaundice, Hypokal... ORPHA:99826
Melkersson-Rosenthal Syndrome
Lymphadenopathy, Oligosacchariduria ORPHA:2483
Pulmonary Non-Tuberculous Mycobacterial Infection
Lymphadenopathy ORPHA:411703
Primary Hepatic Neuroendocrine Carcinoma
Intermittent jaundice, Hepatic cysts, Neoplasm of the liver, Elevated circulating alpha-fetoprote... ORPHA:100085
Tangier Disease
Anemia, Hepatosplenomegaly, Hypocholesterolemia, Orange discolored tonsils, Chronic noninfectious... ORPHA:31150
Common Variable Immunodeficiency
Abnormality of the liver, Hemolytic anemia, Lymphopenia, Autoimmune thrombocytopenia, Lymphadenop... ORPHA:1572
Cutaneous Neuroendocrine Carcinoma
Chronic noninfectious lymphadenopathy, Lymphoid leukemia ORPHA:79140
Waldenström Macroglobulinemia
Leukemia, Normocytic anemia, Abnormality of neutrophils, Lymphadenopathy, Hepatomegaly, Renal ins... ORPHA:33226
Immunodeficiency 82 With Systemic Inflammation
Reduced natural killer cell count, Anemia, T lymphocytopenia, B lymphocytopenia, Hepatitis, Decre... OMIM:619381
Granulomatous Disease, Chronic, X-Linked
Lymphadenitis, Liver abscess, Granuloma, Granulomatosis, Lymphadenopathy, Rectal abscess, Hepatom... OMIM:306400
Q Fever
Anemia, Abnormality of the liver, Granuloma, Hepatitis, Hematuria, Hepatosplenomegaly, Lymphadeno... ORPHA:781
Malakoplakia
Dysuria, Urinary urgency, Hematuria, Prostate neoplasm, Urinary bladder inflammation, Follicular ... ORPHA:556
Familial Mediterranean Fever
Splenomegaly, Nephrotic syndrome, Lymphadenopathy, Nephropathy, Proteinuria, Orchitis, Nephrocalc... ORPHA:342
Hyperimmunoglobulinemia D With Periodic Fever
Lymphadenopathy, Peritonitis, Hepatomegaly ORPHA:343
Igg4-Related Ophthalmic Disease
Abnormality of the anterior pituitary, Retroperitoneal fibrosis, Prostatitis, Enlarged lacrimal g... ORPHA:449563
Sarcoidosis
Abnormal lymph node morphology, Increased T cell count, Parotitis, Eosinophilia, Hepatomegaly, Th... ORPHA:797
Spondyloenchondrodysplasia With Immune Dysregulation
T lymphocytopenia, Lymphopenia, Autoimmune thrombocytopenia, Lymphadenopathy, Tubulointerstitial ... OMIM:607944
Crimean-Congo Hemorrhagic Fever
Leukopenia, Hemoperitoneum, Jaundice, Neutrophilia, Hematuria, Pancytopenia, Elevated circulating... ORPHA:99827
Selective Igm Deficiency
Lymphadenitis, Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of CD8-... ORPHA:331235
Coccidioidomycosis
Abnormality of the liver, Renal insufficiency, Granuloma, Abnormality of the male genitalia, Peri... ORPHA:228123
Hennekam Syndrome
Pulmonary lymphangiectasia, Lymphopenia, Ectopic kidney, Lymphadenopathy, Horseshoe kidney, Hypoc... ORPHA:2136
Poems Syndrome
Increased circulating prolactin concentration, Hypogonadism, Polycythemia, Lymphadenopathy, Throm... ORPHA:2905
Carney Triad
Anemia, Lymphadenopathy, Mediastinal lymphadenopathy, Pheochromocytoma ORPHA:139411
Immunodeficiency 31C
Lymphopenia, Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic ane... OMIM:614162
Farber Disease
Hepatic fibrosis, Anemia, Hepatosplenomegaly, Lymphadenopathy, Thrombocytopenia, Intrahepatic cho... ORPHA:333
Immunodeficiency 87 And Autoimmunity
Decreased CD4:CD8 ratio, Hemolytic anemia, Jaundice, Hypokalemia, Lymphopenia, Decreased proporti... OMIM:619573
Lymphangioleiomyomatosis
Renal angiomyolipoma, Hematuria, Lymphadenopathy, Abnormal urinary color, Multiple renal cysts, A... ORPHA:538
Primary Sjögren Syndrome
Tubulointerstitial nephritis, Leukopenia, Biliary cirrhosis, Renal insufficiency, Chronic active ... ORPHA:289390
Malt Lymphoma
Anemia, Lymphadenopathy, Mediastinal lymphadenopathy ORPHA:52417
Duodenal Neuroendocrine Tumor
Extrahepatic cholestasis, Increased hematocrit, Insulinoma, Lymphadenopathy, Iron deficiency anem... ORPHA:100076
Aicardi-Goutieres Syndrome 7
Anemia, Hemolytic anemia, Nephrotic syndrome, Hepatitis, Generalized lymphadenopathy, Pancytopeni... OMIM:615846
Gallbladder Neuroendocrine Tumor
Intermittent jaundice, Extrahepatic cholestasis, Biliary tract neoplasm, Biliary tract obstructio... ORPHA:100086
Multiple Endocrine Neoplasia Type 2
Elevated urinary catecholamines, Primary hyperparathyroidism, Elevated urinary vanillylmandelic a... ORPHA:653
Idiopathic Hypereosinophilic Syndrome
Anemia, Neutrophilia, Pancreatitis, Generalized lymphadenopathy, Portal fibrosis, Hepatosplenomeg... ORPHA:3260
Igg4-Related Dacryoadenitis And Sialadenitis
Tubulointerstitial nephritis, Retroperitoneal fibrosis, Nodular goiter, Abnormality of the subman... ORPHA:79078
Proteasome-Associated Autoinflammatory Syndrome 1
Elevated circulating thyroid-stimulating hormone concentration, Epididymitis, Lymphadenopathy, De... OMIM:256040
Ileal Neuroendocrine Tumor
Iron deficiency anemia, Lymphadenopathy, Extrahepatic cholestasis, Hydronephrosis ORPHA:100078
Jejunal Neuroendocrine Tumor
Iron deficiency anemia, Lymphadenopathy, Extrahepatic cholestasis, Hydronephrosis ORPHA:100077
Pulmonary Capillary Hemangiomatosis
Lymphadenopathy, Mediastinal lymphadenopathy ORPHA:199241
Autosomal Recessive Malignant Osteopetrosis
Anemia, Hypophosphatemia, Lymphadenopathy, Hepatomegaly, Hypocalcemia, Splenomegaly ORPHA:667
Leptospirosis
Hyperproteinemia, Hepatitis, Acute kidney injury, Jaundice, Cellular urinary casts, Lymphadenopat... ORPHA:509
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Anemia, Lymphadenopathy, Hepatosplenomegaly ORPHA:85408
Sarcoidosis, Susceptibility To, 1
Enlarged lacrimal glands, Generalized lymphadenopathy, Pancytopenia, Abnormal salivary gland morp... OMIM:181000
Behçet Disease
Splenomegaly, Lymphadenopathy, Orchitis, Renal insufficiency, Pancreatitis ORPHA:117
Cushing Syndrome Due To Ectopic Acth Secretion
Abnormal lymph node morphology, Pancreatic adenocarcinoma, Neoplasm of the thymus, Pituitary cort... ORPHA:99889
Blau Syndrome
Anemia, Abnormality of the liver, Stage 5 chronic kidney disease, Lymphadenopathy, Nephropathy, A... ORPHA:90340
Kawasaki Disease
Hepatitis, Jaundice, Cholecystitis, Sterile pyuria, Leukocytosis, Cervical lymphadenopathy, Prote... ORPHA:2331
Adenocarcinoma Of The Anal Canal
Lymphadenopathy, Neoplasm of the liver ORPHA:424016
Neuroendocrine Neoplasm Of Appendix
Chronic noninfectious lymphadenopathy, Adrenocorticotropic hormone excess, Hepatomegaly, Ovarian ... ORPHA:100079
Chikungunya
Lymphadenopathy, Cervical lymphadenopathy ORPHA:324625
Developmental And Epileptic Encephalopathy 70
Cryptorchidism OMIM:618298
African Trypanosomiasis
Urinary incontinence, Jaundice, Hepatosplenomegaly, Lymphadenopathy, Abnormal prolactin level, He... ORPHA:3385
Infantile Spasms Syndrome
ORPHA:3451

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 Phactr1

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 Phactr1.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Deficiency of macrophage PHACTR1 impairs efferocytosis and promotes atherosclerotic plaque necrosis. The Journal of clinical investigation (April 2021) Phactr1em1(IMPC)Mbp PMC8262505
Molecular basis for substrate specificity of the Phactr1/PP1 phosphatase holoenzyme. eLife (September 2020) Phactr1tm1a(KOMP)Wtsi PMC7599070

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MGI Allele Allele Type Produced
Phactr1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Phactr1tm44835(L1L2_gt1) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Phactr1em1(IMPC)Mbp Exon Deletion Mice, Tissue

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