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Gene: Arhgef5 MGI:1858952

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Gene Summary

Name:
Rho guanine nucleotide exchange factor 5
Synonyms:
2210412D05Rik

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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.

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Immunophenotyping

Panel B FCS file(s)

6 Images

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Eye Morphology

Images Slit Lamp

2 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Immunophenotyping

Panel A FCS file(s)

7 Images

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Eye Morphology

Images Ophthalmoscopy

3 Images

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Human diseases caused by Arhgef5 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 Arhgef5 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Immunodeficiency 24
Defective T cell proliferation, Reduced proportion of mucosal-associated invariant T cells, Parti... OMIM:615897
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Reticular Dysgenesis
Congenital agranulocytosis, Lack of T cell function, Hypoplasia of the thymus, Impaired T cell fu... OMIM:267500
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgE, Impaired Ig class switch recombination, Decreased circulating IgG leve... OMIM:606843
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Pancytopenia, Cutaneous anergy, Splenomegaly, Hypersplenism OMIM:183350
Immunodeficiency 50
Decreased circulating antibody level, Neutropenia, Lymphopenia OMIM:300988
Immunodeficiency 11A
Decreased circulating antibody level, Reduced antigen-specific T cell proliferation, Decreased pr... OMIM:615206
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Increased circulating antibody level, Thrombocytosis, Congenital agranulocytosis, Acute m... OMIM:202700
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Immunodeficiency 18
Defective T cell proliferation, Decreased proportion of CD3-positive T cells, Abnormal circulatin... OMIM:615615
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Agammaglobulinemia 7, Autosomal Recessive
Abnormal T cell morphology, Panhypogammaglobulinemia, Agammaglobulinemia, Reduced natural killer ... OMIM:615214
Caspase 8 Deficiency
Reduced CD95-induced lymphocyte apoptosis, Decreased CD4:CD8 ratio, Complete or near-complete abs... OMIM:607271
Transcobalamin Deficiency
Pancytopenia, Decreased circulating antibody level, Decreased circulating IgG level, Thrombocytop... ORPHA:859
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgG level, Transient neutropenia, Decreased circulating total IgM, Agammagl... OMIM:619707
Candidiasis, Familial, 1
Cutaneous anergy OMIM:114580
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Thrombocytopenia, Decreased proportion of CD8-positive T cells, R... OMIM:614493
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia OMIM:610798
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Decreased circulating IgG level, Decreased circulating total IgM, Aga... OMIM:613502
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Absent isohemagglutinin level, Agammaglobulinemia, Absent circulating... OMIM:613501
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Increased circulating interleukin 6 concentration, Decreased proportion of class-switched memory ... OMIM:618944
Immunodeficiency 52
Defective T cell proliferation, Abnormal natural killer cell count, Decreased circulating antibod... OMIM:617514
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Autoimmune hemolytic anemia, Increased circulating interleukin 6 concentration, Abnormal natural ... OMIM:620430
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Anemia, Increased circulating antibody level, Thrombocytopenia, Splenomegaly, Leukopenia, Extrame... OMIM:615285
Autoimmune Lymphoproliferative Syndrome
Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Iron deficiency anemia, Increased ... OMIM:601859
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, B lymphocytopenia, Neutropenia in presence... OMIM:607594
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 23 concentration, Reduced circulating interleukin 22 concentratio... OMIM:619632
Ras-Associated Autoimmune Leukoproliferative Disorder
Increased circulating antibody level, Pancytopenia, Lymphocytosis, Decreased lymphocyte apoptosis... OMIM:614470
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Reduced delayed hypersensitivity, Decreased proportion of CD8-positive T cells, Increased circula... OMIM:617241
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocytosis OMIM:607624
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Decreased CD4:CD8 ratio, Decreased proport... OMIM:300853
Immunodeficiency 102
Increased circulating interleukin 6 concentration, Anemia, Partial absence of specific antibody r... OMIM:301082
Immunodeficiency 81
Autoimmune hemolytic anemia, Decreased proportion of class-switched memory B cells, Decreased pro... OMIM:619374
Immunodeficiency, Common Variable, 2
Partial absence of specific antibody response to unconjugated pneumococcus vaccine, Abnormal T ce... OMIM:240500
Immunodeficiency 64 With Lymphoproliferation
Autoimmune hemolytic anemia, Defective T cell proliferation, Increased circulating IgG level, Inc... OMIM:618534
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Monocytosis, Neutropenia OMIM:613107
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
B lymphocytopenia, Increased circulating IgE level, Lack of T cell function, T lymphocytopenia, L... ORPHA:277
Autoimmune Lymphoproliferative Syndrome, Type Iia
Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Iron deficiency anemia, Increased ... OMIM:603909
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Bone marrow hypo... OMIM:619041
Immunodeficiency 60 And Autoimmunity
Decreased basophil count, Decreased circulating IgE, Pancytopenia, Decreased proportion of memory... OMIM:618394
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Increased circulating antibody level, Increased cir... ORPHA:169154
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Immunodeficiency 67
Liver abscess, Abnormal natural killer cell count, Increased circulating IgE level, Complete or n... OMIM:607676
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Neutropenia, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Decreased ... OMIM:619705
Immunodeficiency With Hyper-Igm, Type 1
Dysgammaglobulinemia, Decreased circulating IgE, Impaired Ig class switch recombination, Increase... OMIM:308230
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Abnormal natural killer cell count, Decreased proportion of CD3-posi... ORPHA:331206
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Panhypogammaglobulinemia, Cutaneous a... OMIM:600802
Immunodeficiency By Defective Expression Of Mhc Class Ii
Autoimmune hemolytic anemia, Panhypogammaglobulinemia, Pancytopenia, Neutropenia in presence of a... ORPHA:572
Immunodeficiency 96
Defective T cell proliferation, Increased mean corpuscular volume, Increased proportion of gamma-... OMIM:619774
Amegakaryocytic Thrombocytopenia, Congenital, 2
Aplastic anemia, Anemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia OMIM:620481
Autoinflammatory Disease, Systemic, X-Linked
B lymphocytopenia, Complete or near-complete absence of specific antibody response to unconjugate... OMIM:301081
Chronic Myeloid Leukemia
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl... ORPHA:521
Macrophage Activation Syndrome
Increased circulating interleukin 6 concentration, Hemophagocytosis, Abnormal natural killer cell... ORPHA:158061
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Lack of T cell fun... ORPHA:35078
Aregenerative Anemia
Erythroid hypoplasia, Pancytopenia, Abnormal proportion of CD8-positive T cells, Reticulocytopeni... ORPHA:101096
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Anemia, Acute myeloid leukemia, Hemophagocytosis, Pancytopenia, Acute lymphoblastic leukemia, Abn... ORPHA:158057
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Impaired platelet aggregation, Poikilocytosis, Bone marrow hypocellularity, El... OMIM:300835
T-Cell Immunodeficiency With Thymic Aplasia
Reduced delayed hypersensitivity, Lymphopenia, T lymphocytopenia, Hepatosplenomegaly, Aplasia of ... OMIM:242700
Orotic Aciduria
Hypochromia, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemia... OMIM:258900
Autoimmune Lymphoproliferative Syndrome
Increased circulating antibody level, Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity... ORPHA:3261
Bare Lymphocyte Syndrome, Type Ii
Agammaglobulinemia, Cutaneous anergy, Panhypogammaglobulinemia, Neutropenia OMIM:209920
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Impaired T cel... OMIM:613179
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Abnormal circulating interferon-gamma concentration, Anemia, Panhypogammaglobulinemia, Pancytopen... ORPHA:79124
Wiskott-Aldrich Syndrome
Autoimmune hemolytic anemia, Decreased specific anti-polysaccharide antibody level, Abnormal dela... OMIM:301000
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Defective T cell proliferation, Perianal abscess, Increased circulating IgG level, Increased circ... OMIM:618213
Congenital Disorder Of Glycosylation, Type Iil
Decreased specific anti-polysaccharide antibody level, Pancytopenia, Impaired T cell function, Th... OMIM:614576
Schimke Immuno-Osseous Dysplasia
Anemia, Abnormal proportion of naive CD4 T cells, Abnormal lymphocyte physiology, Impaired T cell... ORPHA:1830
Adult Acute Respiratory Distress Syndrome
Abnormality of tumor necrosis factor secretion, Abnormal circulating interleukin concentration, I... ORPHA:70578
Sweet Syndrome
Increased circulating interleukin 6 concentration, Acute myeloid leukemia, Anemia, Chronic lympha... ORPHA:3243
Hereditary Orotic Aciduria
Anemia, Splenomegaly, Impaired T cell function ORPHA:30
Obesity Due To Congenital Leptin Deficiency
Decreased proportion of CD4-positive helper T cells, Decreased T cell activation ORPHA:66628
Obesity Due To Leptin Receptor Gene Deficiency
Decreased proportion of CD4-positive helper T cells, Decreased T cell activation ORPHA:179494
Car T Cell Therapy-Associated Cytokine Release Syndrome
Abnormal circulating cytokine concentration, Abnormal circulating interleukin concentration, Incr... ORPHA:542323
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, T lymphocytopenia, Coombs-positive hemolytic anemia, Aplas... ORPHA:83471
Vici Syndrome
Cutaneous anergy, T lymphocytopenia, Decreased circulating IgG level, Decreased proportion of CD4... OMIM:242840
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Abnormal circulating interleukin concentration ORPHA:85435
Immunodeficiency 58
Decreased circulating antibody level, Decreased specific antibody response to vaccination, Recurr... OMIM:618131
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Splenomegaly, Impaired T cell function OMIM:201100
Oligoarticular Juvenile Idiopathic Arthritis
Increased circulating interferon-gamma concentration, Abnormal circulating interleukin concentration ORPHA:85410
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Abnormal circulating interleukin concentration ORPHA:319552
Sarcoidosis, Susceptibility To, 1
Abnormality of T cell physiology, Splenomegaly, Increased circulating antibody level, Pancytopenia OMIM:181000
Velocardiofacial Syndrome
Impaired T cell function OMIM:192430
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Abnormality of T cell physiology ORPHA:2237
22Q11.2 Deletion Syndrome
Thrombocytopenia, Hypoplasia of the thymus, Splenomegaly, Impaired T cell function ORPHA:567
Progeroid Short Stature With Pigmented Nevi
Impaired T cell function OMIM:176690
Digeorge Syndrome
Anemia, Hypoplasia of the thymus, Impaired T cell function, Thrombocytopenia, Splenomegaly OMIM:188400

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 Arhgef5

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 Arhgef5.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Arhgef5 Binds α-Dystrobrevin 1 and Regulates Neuromuscular Junction Integrity. Frontiers in molecular neuroscience (June 2020) Arhgef5tm1c(NCOM)Mfgc PMC7299196

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Arhgef5tm1a(NCOM)Mfgc KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Arhgef5tm1b(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Mice, Tissue

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