Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
raftlin lipid raft linker 1
Synonyms:
2310015N21Rik

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Rftn1 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 Rftn1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgG level, Eosinophilia, Iron deficiency anemia, Increased circulating IgM ... OMIM:601859
Immunoglobulin A Deficiency 2
Autoimmunity, Abnormal lymphocyte morphology, Decreased circulating IgA level OMIM:609529
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Abnormal T cell morphology, Lymphopenia, Decreased circulating I... OMIM:247630
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Anti-thyroid peroxidase antibody positivity, Anti-thyroglobulin antibody ... OMIM:618534
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ... OMIM:616452
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Increased circulating antibody level, Autoimmunity, Hepatomegaly, Sp... OMIM:618495
Immunodeficiency With Hyper-Igm, Type 3
Impaired memory B cell generation, Increased circulating IgM level, Decreased circulating IgE, Ne... OMIM:606843
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia, Decreased circulating to... OMIM:618987
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Lymphocytosis, Splenomegaly, Hepatomegaly OMIM:606445
Tn Polyagglutination Syndrome
Autoimmunity, Abnormal erythrocyte morphology OMIM:300622
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG, Antinuclear antibody positivity OMIM:613495
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmunity, Increase... OMIM:614470
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Autoimmunity, Increased CD4:CD8 ratio, Impaired lymphocyte transformation with phytohemagglutinin... OMIM:617006
Cernunnos-Xlf Deficiency
T lymphocytopenia, Autoimmunity, Decreased circulating antibody level, Lymphopenia, Thrombocytope... ORPHA:169079
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Systemic lupus erythematosus, Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic... ORPHA:444463
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, T lymphocytopenia, Anti-thyroid peroxidase antibody positivity, Increased circula... ORPHA:277
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased circulating IgG level, Increased B cell count, Eosinophilia, Lymphadenopathy, Iron defi... OMIM:603909
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Decreased proportion of class-switched memory B cells, Cutaneous abscess, Increased circulating I... OMIM:618944
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Autoimmune Disease
Autoimmunity, Autoimmune antibody positivity OMIM:109100
Immunodeficiency 25
T lymphocytopenia, Increased circulating IgM level, Increased circulating IgE level, Autoimmune h... OMIM:610163
Pemphigus Vulgaris, Familial
Autoimmunity, Autoimmune antibody positivity OMIM:169610
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Increased circulating antibody level, Lymphopenia, Plasmacytosis OMIM:247800
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Increased circulating IgM level, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutro... OMIM:619220
Immunodeficiency With Hyper-Igm, Type 5
Increased circulating IgM level, Decreased circulating IgA level, Impaired Ig class switch recomb... OMIM:608106
Immunodeficiency, Common Variable, 7
Reduced isohemagglutinin level, Decreased circulating total IgG, Decreased circulating IgA level,... OMIM:614699
Immunodeficiency 72 With Autoinflammation
Increased circulating IgE level, Increased circulating IgG level, Increased B cell count, Increas... OMIM:618982
Complement Component C1S Deficiency
Abnormality of complement system, Hepatitis, Systemic lupus erythematosus, Hashimoto thyroiditis OMIM:613783
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Decreased circulating IgG level, Decreased circulating Ig... OMIM:605258
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Reduced i... OMIM:613493
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia OMIM:233650
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Absent tonsils, Decreased proportion of CD8-positive T cells, Abnormality of the tonsils, Decreas... OMIM:611926
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, Neutropenia in presence of anti-neutropil ... OMIM:607594
Transcobalamin Deficiency
Decreased circulating antibody level, Lymphopenia, Neutropenia, Thrombocytopenia, Pancytopenia, D... ORPHA:859
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level, Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia... OMIM:615285
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Defective B cell differentiation, Decrease... OMIM:617765
Immunoglobulin A Deficiency 1
Autoimmunity, Decreased circulating IgA level OMIM:137100
Severe Combined Immunodeficiency, X-Linked
T lymphocytopenia, Decreased circulating IgE, Impaired lymphocyte transformation with phytohemagg... OMIM:300400
Immunodeficiency, Common Variable, 2
Partial absence of specific antibody response to unconjugated pneumococcus vaccine, Autoimmunity,... OMIM:240500
Insulin Autoimmune Syndrome
Autoimmunity, Increased circulating antibody level, Systemic lupus erythematosus, Autoimmune anti... ORPHA:411593
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmunity, Decreased circulating antibody level, Autoimmune hemolytic anemia, Lymphadenitis, D... ORPHA:331206
T-Cell Receptor-Alpha/Beta Deficiency
Autoimmunity, Hypereosinophilia, Lymphadenopathy OMIM:615387
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... OMIM:613494
Immunodeficiency 60
Decreased proportion of memory B cells, Decreased circulating IgE, Decreased basophil count, Panc... OMIM:618394
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic anemia, Systemic... OMIM:619375
Pulmonary Nodular Lymphoid Hyperplasia, Familial
Increased circulating antibody level, Rheumatoid arthritis, Systemic lupus erythematosus, Antinuc... OMIM:178610
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia OMIM:610798
Autoimmune Hemolytic Anemia, Cold Type
Autoimmunity, Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly ORPHA:228312
C1Q Deficiency
Autoimmunity, Systemic lupus erythematosus, Decreased serum complement factor I OMIM:613652
Immunodeficiency 27A
Increased circulating IgM level, Thrombocytosis, Leukocytosis, Histiocytosis, Rheumatoid factor p... OMIM:209950
Chilblain Lupus
Systemic lupus erythematosus, Increased circulating antibody level, Rheumatoid factor positive, C... ORPHA:90280
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, Thrombocytosis, Leukocytosis, Neutrophilia, B lymphocytopenia, Decreased circulating... OMIM:619281
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphocytosis, T lymphocytopenia, Increased circulating IgE level, Decreased proportion of CD8-po... ORPHA:169154
Lymphoproliferative Syndrome 1
Autoimmune thrombocytopenia, Autoimmunity, Decreased circulating antibody level, Autoimmune hemol... OMIM:613011
Immunodeficiency 36
Autoimmunity, Decreased circulating antibody level, Lymphopenia, Chronic lymphatic leukemia, Sple... OMIM:616005
Immunodeficiency With Hyper-Igm, Type 1
Impaired memory B cell generation, Cirrhosis, Increased circulating IgM level, Hemolytic anemia, ... OMIM:308230
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Thrombocytosis, Autoimmunity, Decreased circulating antibody level, Lymphopenia, Megaloblastic an... OMIM:617780
Immunoglobulin M, Level Of
Decreased circulating total IgM OMIM:308250
Immunodeficiency 70
Decreased circulating antibody level, Decreased proportion of CD4-positive helper T cells, Decrea... OMIM:618969
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Increased circ... OMIM:202700
Autoimmune Lymphoproliferative Syndrome, Type V
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decreased circulating antibody level, L... OMIM:616100
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Autoimmunity, Neutropenia in presence of anti-neu... ORPHA:231154
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgG level, Increased circulating IgA level OMIM:144120
Eosinophilopenia
Autoimmunity, Decreased eosinophil count OMIM:131430
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Abnormal proportion of CD4-positive T cells, Abnormal serum interleukin level, Dec... ORPHA:3261
Igg4-Related Aortitis
Increased circulating IgE level, Autoimmunity, Increased circulating antibody level, Increased ci... ORPHA:449400
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Aplasia of the thymus, Increased circulating IgE level, Autoimmune thro... OMIM:102700
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Autoimmunity, Decreased proportion of CD3-positive T cells, Hashimoto thyroiditis, Juvenile rheum... ORPHA:275
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Absent tonsils, Decreased proportion of CD4-positive helper T cells, Lymph node hypoplasia, Abnor... ORPHA:276
Immunodeficiency By Defective Expression Of Mhc Class Ii
T lymphocytopenia, Abnormal CD4:CD8 ratio, Chronic hepatitis due to cryptosporidium infection, Au... ORPHA:572
Unclassified Myelodysplastic Syndrome
Autoimmunity, Acute myeloid leukemia, Bone marrow hypocellularity, Leukocytosis ORPHA:98827
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Increased circulating antibody level, Decreased proportion of CD3-positive T cells, Lymphopenia, ... ORPHA:169160
X-Linked Lymphoproliferative Disease
Lymphocytosis, Pancytopenia, Histiocytosis, Increased B cell count, Lymphadenopathy, Cervical lym... ORPHA:2442
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Abnormality of the intrahepatic bile duct, Cirrhosis, Increased circulating IgM level, Interlobul... ORPHA:562639
Autoimmune Hepatitis
Acute hepatitis, Cirrhosis, Antineutrophil antibody positivity, Anti-liver cytosolic antigen type... ORPHA:2137
Subcorneal Pustular Dermatosis
Autoimmunity, Increased circulating antibody level, Rheumatoid arthritis, Systemic lupus erythema... ORPHA:48377
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Aregenerative Anemia
Erythroid hypoplasia, Abnormality of interleukin secretion, Decreased proportion of CD4-positive ... ORPHA:101096
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Exocrine pancreatic insufficiency, Autoimmune thrombocytopenia, Autoimmunity, Decreased circulati... OMIM:615952
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
T lymphocytopenia, Increased circulating IgE level, Hemolytic anemia, Decreased specific anti-pol... OMIM:606367
Immune Deficiency Disease
Decreased circulating total IgM, Cholangitis, Fulminant hepatitis OMIM:242850
Thymic Tumor
Autoimmunity, Mediastinal lymphadenopathy, Dysgammaglobulinemia, Neoplasm of the thymus ORPHA:100100
Sting-Associated Vasculopathy, Infantile-Onset
Thrombocytosis, Lymphopenia, Paratracheal lymphadenopathy, Follicular hyperplasia, Rheumatoid fac... OMIM:615934
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Hepatomegaly, Increased circulating IgG level, Hypereosinophilia, Sp... OMIM:617388
Secondary Intestinal Lymphangiectasia
Autoimmunity, Decreased circulating antibody level, Lymphopenia, Abnormality of the lymphatic system ORPHA:90363
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
T lymphocytopenia, Absent natural killer cells, Partial IgA deficiency, Lymphopenia, Impaired lym... ORPHA:35078
Gamma-Heavy Chain Disease
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Autoimmunity, Rheumatoid arthritis, Abn... ORPHA:100026
Oligoarticular Juvenile Idiopathic Arthritis
Abnormal serum interleukin level, Increased serum interferon-gamma level, Autoimmunity, Rheumatoi... ORPHA:85410
Autoimmune Polyendocrinopathy Type 4
Non-caseating epithelioid cell granulomatosis, Autoimmune thrombocytopenia, Autoimmunity, Decreas... ORPHA:227990
Immunodeficiency, Common Variable, 10
Anti-thyroid peroxidase antibody positivity, Anti-thyroglobulin antibody positivity, Decreased ci... OMIM:615577
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Abnormal T cell morphology, Macronodular cirrhosis, Decreased circulating IgA level OMIM:215250
Diffuse Alveolar Hemorrhage
Antineutrophil antibody positivity, Autoimmunity, Leukocytosis, Decreased serum complement C4, Th... ORPHA:90060
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased proportion of class-switched memory B cells, Autoimmune thrombocytopenia, Autoimmune he... OMIM:614700
Autoimmune Polyendocrinopathy Type 3
Non-caseating epithelioid cell granulomatosis, Autoimmune thrombocytopenia, Autoimmunity, Decreas... ORPHA:227982
Cold Agglutinin Disease
Hemolytic anemia, Autoimmunity, Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:56425
Transcobalamin Ii Deficiency
Neutropenia, Reticulocytopenia, Pancytopenia, Decreased circulating IgA level, Decreased circulat... OMIM:275350
Pgm3-Cdg
T lymphocytopenia, Abnormal CD4:CD8 ratio, Cutaneous abscess, Increased circulating IgE level, He... ORPHA:443811
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Anti-thyroid peroxidase antibody positivity, Cirrhosis, Antineutrophil antibody positivity, Autoi... ORPHA:228426
Autoimmune Hemolytic Anemia, Warm Type
Systemic lupus erythematosus, Autoimmune hemolytic anemia, Autoimmunity, Chronic lymphatic leukem... ORPHA:90033
Selective Igm Deficiency
Systemic lupus erythematosus, Cutaneous abscess, Decreased proportion of CD8-positive T cells, Au... ORPHA:331235
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hemophagocytosis, Autoimmunity, Pancytopenia, Anemia, Splenomegaly OMIM:618398
Purine Nucleoside Phosphorylase Deficiency
Systemic lupus erythematosus, Autoimmune thrombocytopenia, Autoimmunity, Autoimmune hemolytic ane... ORPHA:760
Systemic-Onset Juvenile Idiopathic Arthritis
Autoimmunity, Hepatomegaly, Juvenile rheumatoid arthritis, Splenomegaly, Lymphadenopathy ORPHA:85414
Autoimmune Hemolytic Anemia
Autoimmunity, Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly ORPHA:98375
Igg4-Related Submandibular Gland Disease
Increased circulating IgE level, Autoimmunity, Increased circulating antibody level, Increased ci... ORPHA:449432
Immunodeficiency 22
Autoimmunity, Decreased proportion of CD4-positive helper T cells OMIM:615758
Epilepsy-Telangiectasia Syndrome
Decreased circulating antibody level, Decreased circulating IgA level ORPHA:1951
Wiskott-Aldrich Syndrome, Autosomal Dominant
Iron deficiency anemia, Decreased mean platelet volume, Increased circulating IgE level, Hemolyti... OMIM:600903
Wiskott-Aldrich Syndrome
Iron deficiency anemia, Decreased mean platelet volume, Increased circulating IgE level, Decrease... OMIM:301000
Primary Biliary Cholangitis
Cirrhosis, Increased circulating IgM level, Autoimmunity, Hepatocellular carcinoma, Biliary cirrh... ORPHA:186
Car T Cell Therapy-Associated Cytokine Release Syndrome
Increased circulating interleukin 6, Abnormality of serum cytokine level, Increased serum interfe... ORPHA:542323
Infection-Related Hemolytic Uremic Syndrome
Hemolytic anemia, Leukocytosis, Increased circulating interleukin 6, Thrombocytopenia, Abnormalit... ORPHA:544482

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 Rftn1

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 Rftn1.

No publications found that use IMPC mice or data for Rftn1.

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MGI Allele Allele Type Produced
Rftn1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Rftn1tm1a(KOMP)Mbp KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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