Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal spleen morphology Phactr1em1(IMPC)Mbp HOM Late adult 0.00
abnormal coat/ hair morphology Phactr1em1(IMPC)Mbp HOM Middle aged adult 1.74×10-07
abnormal eye morphology Phactr1em1(IMPC)Mbp HOM Late adult 0.00
decreased circulating aspartate transaminase level Phactr1em1(IMPC)Mbp HOM Late adult 9.98×10-23
enlarged lymph nodes Phactr1em1(IMPC)Mbp HOM Late adult 0.00
decreased leukocyte cell number Phactr1em1(IMPC)Mbp HOM Late adult 3.80×10-06
abnormal kidney morphology Phactr1em1(IMPC)Mbp HOM Late adult 0.00
decreased circulating alanine transaminase level Phactr1em1(IMPC)Mbp HOM Late adult 6.27×10-07
enlarged seminal vesicle 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 seminal vesicle morphology Phactr1em1(IMPC)Mbp HOM Late adult 0.00
increased bone mineral content Phactr1em1(IMPC)Mbp HOM Early adult 4.55×10-08

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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

X-ray

XRay Images Whole Body Dorso Ventral

27 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

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
Mediastinal lymphadenopathy, Follicular hyperplasia, Plasmacytosis ORPHA:60026
Immunodeficiency 32A
Lymphadenopathy OMIM:614893
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormality of the lymph nodes 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
Anemia, Hepatosplenomegaly, Lymphadenopathy, Jaundice OMIM:312500
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Burkitt Lymphoma
Abnormality of the liver, Abnormality of the pancreas, Abnormality of the ovary, Decreased propor... ORPHA:543
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaund... OMIM:603552
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormality of the lymph nodes, Abnormality of the pancreas, Neutrophilia, Elevated circulating C... ORPHA:54251
Immunodeficiency 104
Lymphadenopathy, T lymphocytopenia, Splenomegaly, Hepatomegaly OMIM:608971
Kerion Celsi
Recurrent cutaneous abscess formation, Lymphadenopathy ORPHA:499
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Hemolytic anemia, Lymphad... ORPHA:444463
Immunodeficiency 75
Decreased proportion of class-switched memory B cells, Follicular hyperplasia, Hepatosplenomegaly... OMIM:619126
Distal Osteosclerosis
Diaphyseal sclerosis, Hyperostosis, Craniofacial osteosclerosis OMIM:126250
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated circulating creatine kinase concentration, Lymphadenopathy, Hepatomegaly OMIM:615895
Kimura Disease
Eosinophilia, Abnormal salivary gland morphology, Follicular hyperplasia, Lymphadenopathy ORPHA:482
Alpha-Heavy Chain Disease
Hypocalcemia, Splenomegaly, Hepatomegaly, Anemia, Lymphadenopathy, Premature ovarian insufficiency ORPHA:100025
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly OMIM:618495
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hepatosplenomegaly, Hemophagocytosis, Splenomegaly,... OMIM:613101
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased proportion of memory B cells, Hepatosplenomegaly, Stage 5 chronic kidney disease, Nephr... OMIM:615559
Immunodeficiency 76
T lymphocytopenia, Splenomegaly, B lymphocytopenia, Lymphadenopathy, Lymphopenia OMIM:619164
Granulomatous Slack Skin
Abnormality of the lymph nodes, Nephrocalcinosis, Hypercalcemia, Acute kidney injury ORPHA:33111
Immunodeficiency 52
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenopathy, Inc... OMIM:617514
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Adrenocorticotropic hormone excess, Elevated carcinoembryo... ORPHA:100083
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Histiocytosis, Thrombocytosis, Splenomegaly, Enlarged mesenteri... OMIM:209950
Mu-Heavy Chain Disease
Splenomegaly, Hepatomegaly, Abnormal B cell count, Anemia, Bence Jones Proteinuria, Lymphadenopat... ORPHA:100024
Immunodeficiency 103, Susceptibility To Fungal Infections
Decreased serum iron, Hypereosinophilia, Lymphadenopathy OMIM:212050
Immunodeficiency 14A, Autosomal Dominant
T lymphocytopenia, Splenomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B... OMIM:615513
Immunodeficiency 7
Hypereosinophilia, Lymphadenopathy OMIM:615387
Heme Oxygenase 1 Deficiency
Increased circulating ferritin concentration, Hematuria, Proteinuria, Thrombocytosis, Coombs-posi... OMIM:614034
Omenn Syndrome
Eosinophilia, Hypoproteinemia, Splenomegaly, Hepatomegaly, Severe B lymphocytopenia, Anemia, Lymp... OMIM:603554
Autoinflammation With Episodic Fever And Lymphadenopathy
Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Hepatomegaly, Lymphadenopathy OMIM:618852
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Monocytosis, Leukemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatomegaly, Neu... OMIM:614470
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Mediastinal lymphadenopathy ORPHA:66661
Familial Cold Autoinflammatory Syndrome 2
Elevated circulating C-reactive protein concentration, Leukocytosis, Lymphadenopathy, Splenomegaly OMIM:611762
Lymphoproliferative Syndrome 1
Pancytopenia, Increased circulating ferritin concentration, Leukopenia, Autoimmune hemolytic anem... OMIM:613011
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Lymphadenopathy, Reduced natural killer cell count OMIM:618261
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Autoimmune thrombocytopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper... OMIM:300853
Isolated Splenogonadal Fusion
Abnormality of the epididymis, Unilateral cryptorchidism, Abnormal penis morphology, Ectopia of t... ORPHA:457083
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Leukopenia, Splenomegaly, Hepatomegaly, Anemia, Lym... ORPHA:507
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Fluctuating splenomegaly, Neutropenia i... OMIM:619220
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
B lymphocytopenia, Cervical lymphadenopathy, Abnormally low T cell receptor excision circle level OMIM:618987
Immunodeficiency 64
Hepatosplenomegaly, Abnormal CD4:CD8 ratio, Autoimmune thrombocytopenia, Autoimmune hemolytic ane... OMIM:618534
Immunodeficiency With Hyper-Igm, Type 5
Epididymitis, Lymphadenopathy OMIM:608106
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Thrombocytopenia, Extramedullary hem... OMIM:615285
Carcinoma Of Esophagus
Lymphadenopathy ORPHA:70482
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Absent tonsils, Lymph node hypoplasia, Genital ulcers, Aplasia of the thymus OMIM:602450
Reticular Dysgenesis
Hypoplasia of the thymus, Congenital agranulocytosis, Leukopenia, Lymphopenia OMIM:267500
Immunodeficiency 72 With Autoinflammation
Increased proportion of memory T cells, Hepatosplenomegaly, Lymphadenopathy, Increased B cell count OMIM:618982
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:86893
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Goiter, Chronic noninfectious lymphadenopathy, Abnormality of the lymph nodes, Nodular goiter ORPHA:97290
Hereditary Amyloidosis With Primary Renal Involvement
Elevated circulating creatinine concentration, Proteinuria, Oligospermia, Anemia, Decreased HDL c... ORPHA:85450
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
T lymphocytopenia, Absence of lymph node germinal center, Absent tonsils, B lymphocytopenia, Lymp... ORPHA:277
Familial Papillary Or Follicular Thyroid Carcinoma
Goiter, Chronic noninfectious lymphadenopathy, Abnormality of the lymph nodes, Nodular goiter ORPHA:319487
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hepatomegaly, Abnor... ORPHA:158061
Cinca Syndrome
Eosinophilia, Leukocytosis, Hepatosplenomegaly, Elevated circulating C-reactive protein concentra... OMIM:607115
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Glomerulonephritis, Splenomegaly, ... OMIM:619375
Griscelli Syndrome Type 2
Pancytopenia, Hyperlipidemia, Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaundice, Neutropenia... ORPHA:79477
Immunodeficiency 55
Neutropenia, Lymphadenopathy OMIM:617827
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Anemia, Abnormality of the lymph no... OMIM:612840
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Splenomegaly, Neutropenia, Lymphadenopathy... OMIM:150550
Follicular Lymphoma
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly, Abnormality of the peritoneum ORPHA:545
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hypoproteinemia, Leukopenia, Hyponatremia, Hemophag... OMIM:267700
Autoimmune Lymphoproliferative Syndrome, Type Iia
Eosinophilia, Nephrotic syndrome, Coombs-positive hemolytic anemia, Autoimmune hemolytic anemia, ... OMIM:603909
Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:98293
Immunodeficiency 91 And Hyperinflammation
Monocytosis, Hepatosplenomegaly, Hemolytic-uremic syndrome, Hemophagocytosis, Nephrotic syndrome,... OMIM:619644
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Hemophagocytosis, Splenomegaly, Hepatomegaly, Neutropenia, Lymphadenopathy, Aplasti... OMIM:308240
Fish-Eye Disease
Lymphadenopathy, Splenomegaly, Hepatomegaly, Decreased HDL cholesterol concentration ORPHA:79292
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Immunodeficiency, Common Variable, 1
Splenomegaly, Hepatomegaly, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy... OMIM:607594
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center, Neutropenia OMIM:606843
Autoimmune Lymphoproliferative Syndrome
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocy... OMIM:601859
Purine Nucleoside Phosphorylase Deficiency
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Increased circulating ino... OMIM:613179
Schnitzler Syndrome
Leukocytosis, Splenomegaly, Hepatomegaly, Anemia, Lymphadenopathy ORPHA:37748
Rhabdoid Tumor
Hematuria, Hypercalcemia, Neoplasm of the liver, Anemia, Lymphadenopathy, Thrombocytopenia ORPHA:69077
Rosaï-Dorfman Disease
Anemia, Lymphadenopathy ORPHA:158014
Indolent Systemic Mastocytosis
Abnormal mast cell morphology, Mastocytosis, Splenomegaly, Hepatomegaly, Increased proportion of ... ORPHA:98848
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of CD3-positive T cells, Decreased proportion of naive T cells, Decreased pr... ORPHA:276
Immunodeficiency With Hyper-Igm, Type 4
Absence of lymph node germinal center, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia OMIM:608184
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Hepatosplenomegaly, Lymphadenitis, Nephrotic syndrome, Splenomegaly, Recurren... OMIM:618935
Immunodeficiency 54
Adrenocorticotropic hormone excess, Splenomegaly, Hepatomegaly, Lymphadenopathy, Reduced natural ... OMIM:609981
Desmoplastic Small Round Cell Tumor
Testicular neoplasm, Hepatomegaly, Ovarian neoplasm, Anemia, Abnormality of the peritoneum, Lymph... ORPHA:83469
Combined Immunodeficiency Due To Zap70 Deficiency
Eosinophilia, Hepatosplenomegaly, Lymphadenitis, Nephrotic syndrome, Autoimmune thrombocytopenia,... ORPHA:911
Griscelli Syndrome
Leukopenia, Bone marrow hypocellularity, Abnormal circulating lipid concentration, Splenomegaly, ... ORPHA:381
Classic Mycosis Fungoides
Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:2584
Systemic-Onset Juvenile Idiopathic Arthritis
Lymphadenopathy, Splenomegaly, Hepatomegaly, Elevated circulating C-reactive protein concentration ORPHA:85414
Tularemia
Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Cutaneous abscess, Cervical lymphadenop... ORPHA:3392
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, T lymphocytopenia, Leukopenia, Hepatosplenomegaly, Lymphadenitis, Impaired neutroph... OMIM:618986
Hemophagocytic Lymphohistiocytosis, Familial, 2
Pancytopenia, Increased circulating ferritin concentration, Hypoproteinemia, Leukopenia, Hepatosp... OMIM:603553
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, T lymphocytopenia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly... ORPHA:169154
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Bone marrow hypocellularity, Abnormal neutrophil count, Myeloproliferative disorder... ORPHA:3226
Primary Myelofibrosis
Pancytopenia, Portal hypertension, Hepatosplenomegaly, Leukocytosis, Thrombocytosis, Splenomegaly... ORPHA:824
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Lymphoproliferative Syndrome 2
Pancytopenia, Hepatosplenomegaly, Hemophagocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, ... OMIM:615122
Proteasome-Associated Autoinflammatory Syndrome 2
Thrombocytopenia, Lymphadenopathy OMIM:618048
Pfapa Syndrome
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:42642
Immunodeficiency, Common Variable, 2
Lymphadenopathy, Follicular hyperplasia, Splenomegaly, Hepatomegaly OMIM:240500
Congenital Toxoplasmosis
Hepatomegaly, Jaundice, Anemia, Lymphadenopathy, Thrombocytopenia ORPHA:858
Cold Agglutinin Disease
Abnormal urinary color, Splenomegaly, Hepatomegaly, Hemolytic anemia, Lymphadenopathy ORPHA:56425
Lig4 Syndrome
Pancytopenia, Leukocytosis, Cryptorchidism, Hepatomegaly, Hypoplasia of penis, Lymphadenopathy, A... ORPHA:99812
Aggressive Systemic Mastocytosis
Pancytopenia, Abnormal mast cell morphology, Portal hypertension, Hepatosplenomegaly, Leukemia, L... ORPHA:98850
Caspase 8 Deficiency
Decreased CD4:CD8 ratio, Splenomegaly, Lymphadenopathy OMIM:607271
Adult-Onset Still Disease
Leukocytosis, Bone marrow hypocellularity, Abnormal circulating lipid concentration, Neutrophilia... ORPHA:829
Cinca Syndrome
Leukocytosis, Splenomegaly, Hepatomegaly, Elevated circulating C-reactive protein concentration, ... ORPHA:1451
Castleman Disease
Hematuria, Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration, Ja... ORPHA:160
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaund... ORPHA:540
Cyclic Neutropenia
Decreased eosinophil count, Peritonitis, Cervical lymphadenopathy, Recurrent tonsillitis, Thrombo... ORPHA:2686
Thymic Neuroendocrine Tumor
Hypercalcemia, Pituitary prolactin cell adenoma, Primary hyperparathyroidism, Mediastinal lymphad... ORPHA:97289
X-Linked Lymphoproliferative Disease
Pancytopenia, Histiocytosis, Absent natural killer cells, Increased T cell count, Hepatic necrosi... ORPHA:2442
Pancreatoblastoma
Abnormality of the lymph nodes, Pancreatic calcification, Elevated maternal serum alpha-fetoprote... ORPHA:677
Boutonneuse Fever
Leukopenia, Cervical lymphadenopathy, Lymphadenopathy, Renal insufficiency, Thrombocytopenia ORPHA:83313
Lymphatic Filariasis
Lymphadenitis, Hypereosinophilia, Nephrotic syndrome, Orchitis, Proteinuria, Lymphangiectasis, He... ORPHA:2035
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration, Increased prop... OMIM:617099
Omenn Syndrome
Abnormal lymphocyte morphology, Eosinophilia, Leukocytosis, Nephrotic syndrome, Splenomegaly, Hep... ORPHA:39041
Aregenerative Anemia
Pancytopenia, Bone marrow hypocellularity, Decreased proportion of CD4-positive helper T cells, A... ORPHA:101096
Gamma-Heavy Chain Disease
Abnormal lymphocyte morphology, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenom... ORPHA:100026
Mevalonic Aciduria
Normocytic hypoplastic anemia, Hepatosplenomegaly, Leukocytosis, Fluctuating splenomegaly, Elevat... OMIM:610377
Roifman Syndrome
Eosinophilia, Hypogonadotropic hypogonadism, Hepatosplenomegaly, Lymphadenopathy ORPHA:353298
Immunodeficiency 10
Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy OMIM:612783
Classic Hodgkin Lymphoma
Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly, Hepatomegaly ORPHA:391
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Glomerulonephritis, ... OMIM:304790
Legionnaires Disease
Hyponatremia, Bone marrow hypocellularity, Hematuria, Proteinuria, Splenomegaly, Jaundice, Hepati... ORPHA:549
Acute Monoblastic/Monocytic Leukemia
Hypochromic anemia, Oliguria, Leukocytosis, Cervical lymphadenopathy, Anemia, Acute monocytic leu... ORPHA:514
Pseudomyxoma Peritonei
Lymphadenopathy, Abnormality of the peritoneum ORPHA:26790
Pleural Mesothelioma
Lymphadenopathy, Hepatomegaly ORPHA:50251
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Lymphadenop... OMIM:616100
Systemic Mastocytosis With Associated Hematologic Neoplasm
Eosinophilia, Abnormal mast cell morphology, Leukocytosis, Normocytic anemia, Chronic myelomonocy... ORPHA:98849
Immunodeficiency With Hyper-Igm, Type 1
Sclerosing cholangitis, Absence of lymph node germinal center, Chronic hepatitis, Splenomegaly, H... OMIM:308230
Acquired Hypertrichosis Lanuginosa
Lymphadenopathy, Ovarian neoplasm ORPHA:2221
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Pancytopenia, T lymphocytopenia, Decreased proportion of memory B cells, Portal hypertension, Hep... ORPHA:79124
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Roifman Syndrome
Eosinophilia, Splenomegaly, Hepatomegaly, Lymphadenopathy OMIM:616651
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Lymphocytosis, Thrombocytopenia, Lymphadenopathy OMIM:617718
Diffuse Cutaneous Mastocytosis
Abnormality of the liver, Myeloproliferative disorder, Hepatomegaly, Abnormality of the spleen, L... ORPHA:79456
Kikuchi-Fujimoto Disease
Leukopenia, Splenomegaly, Cervical lymphadenopathy, Hepatomegaly, Generalized lymphadenopathy, Ne... ORPHA:50918
Sézary Syndrome
Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:3162
Felty Syndrome
Abnormal lymphocyte morphology, Bone marrow hypocellularity, Splenomegaly, Hepatomegaly, Neutrope... ORPHA:47612
Agammaglobulinemia, X-Linked
T lymphocytopenia, Prostatitis, Neutropenia, Anemia, Epididymitis, B lymphocytopenia, Hepatocellu... OMIM:300755
Proteasome-Associated Autoinflammatory Syndrome 3
Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Lymphadenopathy, Hypertriglyceridemia, Lymp... OMIM:617591
Medullary Thyroid Carcinoma
Primary hyperparathyroidism, Pheochromocytoma, Lymphadenopathy, Nodular goiter, Abnormal liver pa... ORPHA:1332
Sting-Associated Vasculopathy, Infantile-Onset
Paratracheal lymphadenopathy, Leukopenia, Thrombocytosis, Elevated circulating C-reactive protein... OMIM:615934
Acute Promyelocytic Leukemia
Pancytopenia, Leukopenia, Leukocytosis, Hematuria, Neutropenia, Anemia, Lymphadenopathy, Thromboc... ORPHA:520
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
T lymphocytopenia, Hepatosplenomegaly, Decreased proportion of CD4+CD25+ regulatory T cells, Auto... OMIM:606367
Chediak-Higashi Syndrome
Leukopenia, Giant neutrophil granules, Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaundice, Ne... OMIM:214500
Igg4-Related Kidney Disease
Abnormality of the anterior pituitary, Elevated circulating creatinine concentration, Proteinuria... ORPHA:449395
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Decreased proportion of CD4-positive helper T cells, Hepatitis, Elev... ORPHA:3261
Thyroid Lymphoma
Goiter, Lymphadenopathy ORPHA:97285
H Syndrome
Microcytic anemia, Enlarged kidney, Hepatosplenomegaly, Histiocytosis, Azoospermia, Micropenis, L... ORPHA:168569
Nephroblastoma
Lymphadenopathy, Neoplasm of the liver, Hematuria ORPHA:654
Niemann-Pick Disease, Type A
Microcytic anemia, Splenomegaly, Hepatomegaly, Bone-marrow foam cells, Prolonged neonatal jaundic... OMIM:257200
Pediatric Systemic Lupus Erythematosus
Leukopenia, Nephrotic syndrome, Hematuria, Proteinuria, Nephritis, Lymphopenia, Lymphadenopathy, ... ORPHA:93552
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
T lymphocytopenia, Absent natural killer cells, Impaired lymphocyte transformation with phytohema... OMIM:600802
Proteasome-Associated Autoinflammatory Syndrome 4
Lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly OMIM:619183
Familial Pancreatic Carcinoma
Exocrine pancreatic insufficiency, Hepatosplenomegaly, Ovarian carcinoma, Jaundice, Neoplasm of t... ORPHA:1333
Kaposi Sarcoma
Abnormality of the liver, Generalized lymphadenopathy, Abnormality of the spleen ORPHA:33276
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Chronic neutropenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Sple... OMIM:614700
Klatskin Tumor
Cholangiocarcinoma, Hepatomegaly, Extrahepatic cholestasis, Jaundice, Lymphadenopathy ORPHA:99978
Multiple Myeloma
Nephrotic syndrome, Elevated circulating creatinine concentration, Hypercalcemia, Acute kidney in... ORPHA:29073
Chédiak-Higashi Syndrome
Pancytopenia, Increased circulating ferritin concentration, Hypoproteinemia, Hepatosplenomegaly, ... ORPHA:167
Combined Immunodeficiency Due To Crac Channel Dysfunction
Splenomegaly, Hepatomegaly, Hemolytic anemia, Lymphadenopathy, Thrombocytopenia ORPHA:169090
Anaplastic Thyroid Carcinoma
Goiter, Nodular goiter, Lymphadenopathy ORPHA:142
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Nephrotic syndro... ORPHA:37042
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Lymphadenopathy, Proteinuria ORPHA:69126
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Pancytopenia, Leukopenia, Portal hypertension, Hepatosplenomegaly, Leukocytosis, Thrombocytosis, ... OMIM:615688
Acute Interstitial Pneumonia
Elevated circulating creatinine concentration, Reduced hematocrit, Lymphadenopathy, Elevated circ... ORPHA:79126
Meige Disease
Absence of lymph node germinal center, Lymph node hypoplasia ORPHA:90186
Scrub Typhus
Splenomegaly, Lymphadenopathy, Renal insufficiency ORPHA:83317
Mixed Connective Tissue Disease
Leukopenia, Splenomegaly, Hepatomegaly, Hemolytic anemia, Lymphadenopathy, Nephropathy, Mediastin... ORPHA:809
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Lymphadenitis, Rectal abscess, Splenomegaly, Hepatomegaly, Granulomatosis, Lymphadenopathy, Liver... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Lymphadenitis, Rectal abscess, Splenomegaly, Hepatomegaly, Granulomatosis, Lymphadenopathy, Liver... OMIM:233710
Hyper-Igd Syndrome
Renal angiomyolipoma, Hepatosplenomegaly, Leukocytosis, Lymphadenitis, Neutrophilia, Splenomegaly... OMIM:260920
Middle Ear Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100084
Carcinoid Syndrome
Chronic noninfectious lymphadenopathy, Abnormal B-type natriuretic peptide level, Hepatic necrosis ORPHA:100093
American Trypanosomiasis
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:3386
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Lymphadenitis, Rectal abscess, Splenomegaly, Hepatomegaly, Granulomatosis, Lymphadenopathy, Liver... OMIM:233690
Thymic Aplasia
T lymphocytopenia, Coombs-positive hemolytic anemia, Decreased proportion of naive T cells, Atypi... ORPHA:83471
Brucellosis
Abnormality of the liver, Leukopenia, Leukocytosis, Orchitis, Thrombocytosis, Lung abscess, Glome... ORPHA:1304
Hypocomplementemic Urticarial Vasculitis
Hematuria, Proteinuria, Splenomegaly, Hepatomegaly, Lymphadenopathy, Renal insufficiency ORPHA:36412
Igg4-Related Submandibular Gland Disease
Eosinophilia, Abnormal salivary gland morphology, Cholangitis, Enlarged lacrimal glands, Abnormal... ORPHA:449432
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Leukocytosis, Orchitis, Peritonitis, Splenomegaly, Elevated circulating C-reactive protein concen... ORPHA:32960
Drug Reaction With Eosinophilia And Systemic Symptoms
Eosinophilia, Nephrotic syndrome, Tubulointerstitial nephritis, Hepatitis, Lymphadenopathy, Renal... ORPHA:139402
Squamous Cell Carcinoma Of The Anal Canal
Lymphadenopathy, Neoplasm of the liver ORPHA:424019
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatosplenomegaly, Histiocytosis, Azoospermia, Micropenis, Pancreatic hypoplasia, Splenomegaly, ... OMIM:602782
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Exocrine pancreatic insufficiency, Microvesicular hepatic steatosis, Hepatic steatosis, Accessory... OMIM:619418
Marburg Hemorrhagic Fever
Abnormal lymphocyte morphology, Hypokalemia, Leukopenia, Elevated circulating creatinine concentr... ORPHA:99826
Melkersson-Rosenthal Syndrome
Oligosacchariduria, Lymphadenopathy ORPHA:2483
Graft Versus Host Disease
Hepatosplenomegaly, Hemophagocytosis, Chronic hepatitis, Jaundice, Hyperbilirubinemia, Lymphadeno... ORPHA:39812
Common Variable Immunodeficiency
Abnormality of the liver, Autoimmune thrombocytopenia, Splenomegaly, Hemolytic anemia, Lymphadeno... ORPHA:1572
Pulmonary Non-Tuberculous Mycobacterial Infection
Lymphadenopathy ORPHA:411703
Cutaneous Neuroendocrine Carcinoma
Chronic noninfectious lymphadenopathy, Lymphoid leukemia ORPHA:79140
Tangier Disease
Hepatosplenomegaly, Orange discolored tonsils, Anemia, Chronic noninfectious lymphadenopathy, Hyp... ORPHA:31150
Waldenström Macroglobulinemia
Leukemia, Normocytic anemia, Splenomegaly, Hepatomegaly, Abnormality of neutrophils, Lymphadenopa... ORPHA:33226
Granulomatous Disease, Chronic, X-Linked
Lymphadenitis, Rectal abscess, Splenomegaly, Hepatomegaly, Granuloma, Granulomatosis, Lymphadenop... OMIM:306400
Q Fever
Abnormality of the liver, Hepatosplenomegaly, Hematuria, Cholecystitis, Splenomegaly, Hepatomegal... ORPHA:781
Malakoplakia
Urinary bladder inflammation, Hematuria, Proteinuria, Dysuria, Orchitis, Prostate neoplasm, Urina... ORPHA:556
Familial Mediterranean Fever
Nephrocalcinosis, Nephrotic syndrome, Orchitis, Proteinuria, Peritonitis, Splenomegaly, Lymphaden... ORPHA:342
Igg4-Related Ophthalmic Disease
Eosinophilia, Abnormality of the anterior pituitary, Orchitis, Enlarged lacrimal glands, Cholangi... ORPHA:449563
Spondyloenchondrodysplasia With Immune Dysregulation
T lymphocytopenia, Autoimmune thrombocytopenia, Neutropenia, Tubulointerstitial fibrosis, Lymphad... OMIM:607944
Crimean-Congo Hemorrhagic Fever
Pancytopenia, Acute pancreatitis, Leukopenia, Leukocytosis, Hematuria, Orchitis, Parotitis, Chole... ORPHA:99827
Hyperimmunoglobulinemia D With Periodic Fever
Peritonitis, Lymphadenopathy, Hepatomegaly ORPHA:343
Selective Igm Deficiency
Decreased proportion of CD8-positive T cells, Lymphadenitis, Decreased proportion of CD3-positive... ORPHA:331235
Sarcoidosis
Increased T cell count, Anemia, Abnormal reproductive system morphology, Thrombocytopenia, Nephro... ORPHA:797
Poems Syndrome
Thrombocytosis, Increased circulating prolactin concentration, Lymphadenopathy, Polycythemia, Hyp... ORPHA:2905
Carney Triad
Anemia, Pheochromocytoma, Lymphadenopathy, Mediastinal lymphadenopathy ORPHA:139411
Coccidioidomycosis
Abnormality of the female genitalia, Abnormal sperm morphology, Eosinophilia, Abnormality of the ... ORPHA:228123
Immunodeficiency 82 With Systemic Inflammation
T lymphocytopenia, Decreased proportion of naive T cells, Splenomegaly, Elevated circulating C-re... OMIM:619381
Hennekam Syndrome
Ectopic kidney, Horseshoe kidney, Lymphangioma, Hypocalcemia, Splenomegaly, Pulmonary lymphangiec... ORPHA:2136
Farber Disease
Hepatosplenomegaly, Intrahepatic cholestasis with episodic jaundice, Anemia, Lymphadenopathy, Hep... ORPHA:333
Lymphangioleiomyomatosis
Renal angiomyolipoma, Abnormal urinary color, Hematuria, Pulmonary lymphangiomyomatosis, Abnormal... ORPHA:538
Primary Sjögren Syndrome
Biliary cirrhosis, Leukopenia, Normocytic anemia, Parotitis, Chronic hepatitis, Glomerulonephriti... ORPHA:289390
Immunodeficiency 87 And Autoimmunity
Hepatic steatosis, Hypokalemia, Cholestasis, Autoimmune hemolytic anemia, Decreased CD4:CD8 ratio... OMIM:619573
Malt Lymphoma
Anemia, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:52417
Duodenal Neuroendocrine Tumor
Increased hematocrit, Intrahepatic cholestasis with episodic jaundice, Hydronephrosis, Elevated c... ORPHA:100076
Multiple Endocrine Neoplasia Type 2
Elevated urinary catecholamines, Thyroid C cell hyperplasia, Nephrolithiasis, Hypercalcemia, Hype... ORPHA:653
Gallbladder Neuroendocrine Tumor
Biliary tract obstruction, Cholecystitis, Biliary tract neoplasm, Extrahepatic cholestasis, Chron... ORPHA:100086
Proteasome-Associated Autoinflammatory Syndrome 1
Microcytic anemia, Parotitis, Splenomegaly, Hepatomegaly, Elevated circulating C-reactive protein... OMIM:256040
Idiopathic Hypereosinophilic Syndrome
Eosinophilia, Hepatosplenomegaly, Leukocytosis, Cholangitis, Thrombocytosis, Chronic hepatitis, M... ORPHA:3260
Pulmonary Capillary Hemangiomatosis
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:199241
Igg4-Related Dacryoadenitis And Sialadenitis
Abnormal salivary gland morphology, Enlarged lacrimal glands, Tubulointerstitial nephritis, Throm... ORPHA:79078
Ileal Neuroendocrine Tumor
Iron deficiency anemia, Hydronephrosis, Lymphadenopathy, Extrahepatic cholestasis ORPHA:100078
Jejunal Neuroendocrine Tumor
Iron deficiency anemia, Hydronephrosis, Lymphadenopathy, Extrahepatic cholestasis ORPHA:100077
Autosomal Recessive Malignant Osteopetrosis
Hypocalcemia, Splenomegaly, Hepatomegaly, Anemia, Lymphadenopathy, Hypophosphatemia ORPHA:667
Leptospirosis
Cellular urinary casts, Acute kidney injury, Hepatomegaly, Jaundice, Hepatitis, Lymphadenopathy, ... ORPHA:509
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Anemia, Hepatosplenomegaly, Lymphadenopathy ORPHA:85408
Sarcoidosis, Susceptibility To, 1
Pancytopenia, Abnormal salivary gland morphology, Enlarged lacrimal glands, Hypercalciuria, Splen... OMIM:181000
Behçet Disease
Orchitis, Splenomegaly, Pancreatitis, Lymphadenopathy, Renal insufficiency ORPHA:117
Cushing Syndrome Due To Ectopic Acth Secretion
Leukocytosis, Decreased eosinophil count, Increased urinary cortisol level, Prostate cancer, Pheo... ORPHA:99889
Blau Syndrome
Abnormal salivary gland morphology, Abnormality of the liver, Splenomegaly, Anemia, Lymphadenopat... ORPHA:90340
Kawasaki Disease
Leukocytosis, Proteinuria, Sterile pyuria, Cholecystitis, Cervical lymphadenopathy, Jaundice, Hep... ORPHA:2331
Neuroendocrine Neoplasm Of Appendix
Chronic noninfectious lymphadenopathy, Adrenocorticotropic hormone excess, Hepatomegaly, Ovarian ... ORPHA:100079
Adenocarcinoma Of The Anal Canal
Lymphadenopathy, Neoplasm of the liver ORPHA:424016
Chikungunya
Lymphadenopathy, Cervical lymphadenopathy ORPHA:324625
African Trypanosomiasis
Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Jaundice, Abnormal prolactin level, Lymphadenopat... ORPHA:3385
Developmental And Epileptic Encephalopathy 70
Cryptorchidism OMIM:618298
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 1 publication which use IMPC produced mice or data.

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

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