Gene Summary

Name:
Rho guanine nucleotide exchange factor (GEF) 5
Synonyms:
2210412D05Rik

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
hyperactivity Arhgef5tm1b(NCOM)Mfgc HOM Early adult 6.17×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Eye Morphology

Images Ophthalmoscopy

3 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Immunophenotyping

Panel B FCS file(s)

4 Images

Gross Pathology and Tissue Collection

Images

8 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Immunophenotyping

Panel A FCS file(s)

5 Images

Eye Morphology

Images Slit Lamp

2 Images

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
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Mental Retardation, Autosomal Recessive 2
Attention deficit hyperactivity disorder OMIM:607417
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Mental Retardation, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder OMIM:618830
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Immunodeficiency 8
Hyperactivity OMIM:615401
Microcephaly 25, Primary, Autosomal Recessive
Attention deficit hyperactivity disorder OMIM:618351
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Immunodeficiency 24
Decreased specific pneumococcal antibody level, Defective T cell proliferation, Decreased circula... OMIM:615897
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Defective T cell proliferation, Lymphopenia OMIM:615615
Reticular Dysgenesis
Lack of T cell function, Leukopenia, Impaired T cell function, Congenital agranulocytosis, Hypopl... OMIM:267500
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia OMIM:617113
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Neutropenia OMIM:615214
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Immunodeficiency With Hyper-Igm, Type 3
Neutropenia, Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B ... OMIM:606843
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Splenomegaly, Hypersplenism, Decreased helper T cell proportion, Pancytopenia OMIM:183350
Immunodeficiency 50
Decreased circulating antibody level, Neutropenia, Lymphopenia OMIM:300988
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder OMIM:617787
Mental Retardation, Autosomal Dominant 52
Hyperactivity OMIM:617796
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Increased circulati... OMIM:202700
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria
Attention deficit hyperactivity disorder OMIM:204750
Mental Retardation, Autosomal Recessive 37
Hyperactivity OMIM:615493
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity OMIM:617169
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Inability to walk OMIM:616657
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Neutropenia, Leukopenia, Anemia, Splenomegaly, Increased circulating antibody level, Extramedulla... OMIM:615285
Lymphoid System Deterioration, Progressive
Abnormal T cell morphology, Decreased circulating IgG level, Lymphopenia, Decreased circulating t... OMIM:247630
Thrombocytopenia, Cyclic
Thrombocytopenia, Neutropenia, Cyclic neutropenia OMIM:188020
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity ORPHA:356996
Transcobalamin Deficiency
Neutropenia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulat... ORPHA:859
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Reduced natural killer cell activity, Defective T cell proliferation, Decreased... OMIM:614493
Candidiasis, Familial, 1
Cutaneous anergy OMIM:114580
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Neutropenia, Decreased circulating total IgM OMIM:610798
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Agammaglobulinemia 3, Autosomal Recessive
Agammaglobulinemia, Neutropenia OMIM:613501
Caspase 8 Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Reduced CD95-induced lymphocyte... OMIM:607271
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Dysmetria, Gait disturbance, Inability to walk, Hyperactivity OMIM:618090
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Autoimmune Lymphoproliferative Syndrome
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Decreased lymph... OMIM:601859
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder OMIM:301008
Immunodeficiency, Common Variable, 1
B lymphocytopenia, Decreased proportion of class-switched memory B cells, Neutropenia in presence... OMIM:607594
Ras-Associated Autoimmune Leukoproliferative Disorder
Neutropenia, Monocytosis, Leukemia, Decreased lymphocyte apoptosis, Splenomegaly, Increased circu... OMIM:614470
Insulin-Like Growth Factor I Deficiency
Hyperactivity OMIM:608747
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocytosis OMIM:607624
Agammaglobulinemia 4, Autosomal Recessive
Agammaglobulinemia, Neutropenia OMIM:613502
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Red... OMIM:619374
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Hypoplasia of the thymus, Reduced antigen-specific T cell proliferation, Increased circulating Ig... OMIM:617241
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased CD69 upregulation upon TCR activation, Decreased specific anti-polysaccharide antibody ... OMIM:300853
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient
Dystonia, Oculogyric crisis, Bradykinesia, Broad-based gait, Attention deficit hyperactivity diso... OMIM:617384
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
B lymphocytopenia, Lack of T cell function, Increased circulating IgE level, Lymphopenia, T lymph... ORPHA:277
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Defective T cell proliferation, Increased circulating IgA level, Decrease... OMIM:618534
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Reduced natural killer cell activity, Decreased circulating IgG level, Decreased cir... OMIM:308240
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Dystonia, Ataxia OMIM:615924
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity OMIM:619031
Juvenile Huntington Disease
Dystonia, Bradykinesia, Hyperactivity, Progressive cerebellar ataxia, Ataxia, Broad-based gait, G... ORPHA:248111
Immunodeficiency 67
Increased circulating IgE level, Transient neutropenia, Liver abscess OMIM:607676
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Attention deficit hyperactivity disorder OMIM:188570
Hyperprolinemia, Type I
Hyperactivity, Ataxia OMIM:239500
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Acute myeloi... OMIM:619041
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity ORPHA:85288
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... OMIM:603909
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased basophi... OMIM:618394
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neutropenia, Increased circulating IgA level, Decreased lymphocyte proliferation in response to m... ORPHA:169154
Immunodeficiency With Hyper-Igm, Type 1
Neutropenia, Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B ... OMIM:308230
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity OMIM:604317
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Morm Syndrome
Hyperactivity ORPHA:75858
Glycine Encephalopathy
Hyperactivity, Lethargy OMIM:605899
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Cutaneous anergy, Decreased lymphocyt... OMIM:600802
Mannosidosis, Beta A, Lysosomal
Hyperactivity OMIM:248510
Immunodeficiency, Common Variable, 2
Impaired T cell function, Decreased circulating IgA level, Decreased circulating IgG level, Splen... OMIM:240500
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal B cell count, Decreased circulating IgA level, Decreased circulating IgG level, Decrease... ORPHA:331206
Immunodeficiency By Defective Expression Of Mhc Class Ii
Abnormal CD4:CD8 ratio, Neutropenia, Lack of T cell function, Neutropenia in presence of anti-neu... ORPHA:572
Dihydropyrimidine Dehydrogenase Deficiency
Hyperactivity, Lethargy OMIM:274270
Anemia, Sideroblastic, 5
Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia OMIM:619523
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity OMIM:309548
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Ataxia OMIM:300983
Fraxe Intellectual Disability
Hyperactivity ORPHA:100973
Histidinemia
Hyperactivity ORPHA:2157
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity OMIM:615541
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Broad-based gait OMIM:619470
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... OMIM:300835
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Dystonia, Ataxia OMIM:612716
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity OMIM:300434
Mental Retardation, Autosomal Dominant 43
Hyperactivity OMIM:616977
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple... ORPHA:521
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Gait ataxia OMIM:609425
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Lack of T cell fun... ORPHA:35078
Xq25 Microduplication Syndrome
Hyperactivity ORPHA:521258
Chromosome Xq25 Duplication Syndrome
Hyperactivity OMIM:300979
Coffin-Siris Syndrome 8
Hyperactivity OMIM:618362
Lennox-Gastaut Syndrome
Hyperactivity, Falls ORPHA:2382
Aregenerative Anemia
Neutropenia, Abnormal proportion of CD8-positive T cells, Abnormality of interleukin secretion, B... ORPHA:101096
Alazami-Yuan Syndrome
Hyperactivity OMIM:617126
Optic Atrophy 11
Dysmetria, Hyperactivity, Ataxia OMIM:617302
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Dystonia, Athetosis, Ataxia ORPHA:382
Phenylketonuria
Hyperactivity, Attention deficit hyperactivity disorder OMIM:261600
Purine Nucleoside Phosphorylase Deficiency
Neutropenia in presence of anti-neutropil antibodies, Impaired T cell function, Decreased lymphoc... OMIM:613179
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Ataxia, Broad-based gait ORPHA:411515
Intellectual Developmental Disorder, Autosomal Recessive 71
Hyperactivity, Attention deficit hyperactivity disorder OMIM:618504
Bare Lymphocyte Syndrome, Type Ii
Cutaneous anergy, Panhypogammaglobulinemia, Agammaglobulinemia, Neutropenia OMIM:209920
Gand Syndrome
Hyperactivity OMIM:615074
Orotic Aciduria
Hypochromia, Impaired T cell function, Anisocytosis, Poikilocytosis, Pyrimidine-responsive megalo... OMIM:258900
T-Cell Immunodeficiency With Thymic Aplasia
Abnormal T cell morphology, Aplasia of the thymus, Reduced delayed hypersensitivity, Hepatospleno... OMIM:242700
Wiskott-Aldrich Syndrome, Autosomal Dominant
Absent microvilli on the surface of peripheral blood lymphocytes, Increased circulating IgA level... OMIM:600903
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Unsteady gait, Hyperactivity, Broad-based gait OMIM:617865
Cln5 Disease
Dysmetria, Hyperactivity, Inability to walk, Dysdiadochokinesis, Ataxia, Truncal ataxia, Unsteady... ORPHA:228360
Landau-Kleffner Syndrome
Steppage gait, Hyperactivity, Attention deficit hyperactivity disorder, Gait ataxia ORPHA:98818
Clark-Baraitser Syndrome
Hyperactivity OMIM:617752
Intellectual Developmental Disorder, Autosomal Recessive 38
Unsteady gait, Hyperactivity OMIM:615516
Mental Retardation, Autosomal Recessive 13
Hyperactivity OMIM:613192
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hyperactivity, Broad-based gait ORPHA:457260
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Attention deficit hyperactivity disorder OMIM:301013
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Inability to walk OMIM:618718
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Hyperactivity, Dystonia, Inability to walk, Gait ataxia ORPHA:500180
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Shuffling gait, Broad-based gait ORPHA:3077
Succinic Semialdehyde Dehydrogenase Deficiency
Hyperactivity, Ataxia OMIM:271980
Wiskott-Aldrich Syndrome
Absent microvilli on the surface of peripheral blood lymphocytes, Impaired lymphocyte transformat... OMIM:301000
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Splenomegaly, Impaired T cell function OMIM:201100
Severe Neurodegenerative Syndrome With Lipodystrophy
Hyperactivity, Gait ataxia, Ataxia, Limb dystonia ORPHA:363400
Chromosome 15Q25 Deletion Syndrome
Hyperactivity, Attention deficit hyperactivity disorder OMIM:614294
Rasmussen Subacute Encephalitis
Hyperactivity, Hemidystonia, Attention deficit hyperactivity disorder, Inability to walk ORPHA:1929
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Hyperactivity OMIM:615824
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hyperactivity ORPHA:397973
Graves Disease, Susceptibility To, 1
Hyperactivity OMIM:275000
Intellectual Developmental Disorder, X-Linked 21
Hyperactivity OMIM:300143
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Hyperactivity, Broad-based gait OMIM:300958
Fragile X Syndrome
Hyperactivity OMIM:300624
Congenital Disorder Of Glycosylation, Type Iil
Impaired T cell function, Decreased specific anti-polysaccharide antibody level, Splenomegaly, Pa... OMIM:614576
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity ORPHA:85327
Myoclonic-Astatic Epilepsy
Unsteady gait, Hyperactivity, Attention deficit hyperactivity disorder, Ataxia ORPHA:1942
Schimke Immuno-Osseous Dysplasia
Decreased proportion of naive CD8 T cells, Neutropenia, Impaired T cell function, Bone marrow hyp... ORPHA:1830
X-Linked Creatine Transporter Deficiency
Hyperactivity, Dystonia, Athetosis, Ataxia ORPHA:52503
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity ORPHA:101039
Hypomagnesemia, Seizures, And Mental Retardation 2
Hyperactivity OMIM:618314
Mental Retardation, Autosomal Dominant 7
Hyperactivity, Gait disturbance, Ataxia OMIM:614104
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Leukocytosis, Thrombocytosis, Defective T cell proliferation, Increased circulating IgG level, Hy... OMIM:618213
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Hyperactivity ORPHA:369939
Infantile Neuroaxonal Dystrophy
Dystonia, Gait disturbance, Hyperactivity, Ataxia, Unsteady gait ORPHA:35069
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hyperactivity OMIM:619239
Hyperthyroidism, Nonautoimmune
Hyperactivity OMIM:609152
Lamb-Shaffer Syndrome
Hyperactivity, Ataxia ORPHA:530983
Hereditary Orotic Aciduria
Anemia, Splenomegaly, Impaired T cell function ORPHA:30
Neurodegeneration With Brain Iron Accumulation 2B
Dystonia, Dysmetria, Bradykinesia, Hyperactivity, Dysdiadochokinesis, Gait ataxia OMIM:610217
Obesity Due To Congenital Leptin Deficiency
Decreased T cell activation, Decreased proportion of CD4-positive helper T cells ORPHA:66628
Obesity Due To Leptin Receptor Gene Deficiency
Decreased T cell activation, Decreased proportion of CD4-positive helper T cells ORPHA:179494
Vici Syndrome
Cutaneous anergy, Decreased circulating IgG level, Decreased proportion of CD4-positive helper T ... OMIM:242840
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Ataxia OMIM:610042
X-Linked Adrenoleukodystrophy
Hyperactivity, Gait disturbance, Attention deficit hyperactivity disorder ORPHA:43
Thymic Aplasia
Decreased proportion of naive T cells, Coombs-positive hemolytic anemia, Decreased lymphocyte pro... ORPHA:83471
Mucopolysaccharidosis, Type Iiia
Hyperactivity OMIM:252900
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Ataxia, Hyperactivity, Gait imbalance, Broad-based gait ORPHA:98794
X-Linked Cerebral Adrenoleukodystrophy
Gait disturbance, Dysmetria, Hyperactivity, Inability to walk, Ataxia, Difficulty walking ORPHA:139396
Adenylosuccinase Deficiency
Hyperactivity, Inability to walk, Gait ataxia OMIM:103050
Spastic Paraplegia 29, Autosomal Dominant
Hyperactivity OMIM:609727
Immunodeficiency 58
Decreased specific antibody response to vaccination, Recurrent cutaneous abscess formation, Decre... OMIM:618131
47,Xyy Syndrome
Hyperactivity, Attention deficit hyperactivity disorder ORPHA:8
Purine Nucleoside Phosphorylase Deficiency
Hyperactivity, Ataxia ORPHA:760
Neurodegeneration With Brain Iron Accumulation 1
Dystonia, Gait disturbance, Bradykinesia, Hyperactivity, Ataxia, Akinesia, Blepharospasm OMIM:234200
Familial Gestational Hyperthyroidism
Hyperactivity ORPHA:99819
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity ORPHA:424
Legius Syndrome
Hyperactivity, Dystonia, Attention deficit hyperactivity disorder ORPHA:137605
Argininemia
Hyperactivity, Spastic gait OMIM:207800
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Dysmetria, Hyperactivity, Unsteady gait, Ataxia OMIM:614756
Sarcoidosis, Susceptibility To, 1
Pancytopenia, Increased circulating antibody level, Abnormality of T cell physiology, Splenomegaly 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
Impaired T cell function 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

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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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