Gene Summary

Name:
guanylate binding protein 5
Synonyms:
5330409J06Rik,  Gbp5a

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
increased circulating creatinine level Gbp5em1(IMPC)Wtsi HOM Early adult 1.02×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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

14 Images

X-ray

XRay Images Forepaw

14 Images

DSS Histology

Images

6 Images

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

15 Images

Eye Morphology

Images Slit Lamp

2 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

Eye Morphology

Images Ophthalmoscopy

3 Images

Anti-nuclear antibody assay

Images

6 Images

Ear epidermis immunophenotyping

Images

12 Images

Legacy Phenotype Associated Images

View all 71 images

Human diseases caused by Gbp5 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 Gbp5 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Azotemia, Familial
Azotemia OMIM:109160
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent candida infections, Recurrent bacterial infections, Decreased circulating IgG level, T ... OMIM:242870
Immunodeficiency, Common Variable, 5
Recurrent bacterial infections, Chronic decreased circulating total IgG, Recurrent respiratory in... OMIM:613495
Immunodeficiency 86
Impaired oxidative burst, BCGitis, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Agammaglobulinemia 3, Autosomal Recessive
Neutropenia, Recurrent bacterial infections, Recurrent bronchitis, Recurrent otitis media, Agamma... OMIM:613501
Specific Granule Deficiency 1
Absent neutrophil lactoferrin, Recurrent bacterial infections, Hyposegmentation of neutrophil nuc... OMIM:245480
Myelolymphatic Insufficiency
Recurrent viral infections, Recurrent bacterial infections, Hyposegmentation of neutrophil nuclei... OMIM:310350
Immunodeficiency 35
Recurrent mycobacterial infections, Recurrent fungal infections, Recurrent viral infections, Incr... OMIM:611521
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent protozoan infections, Recurrent viral infections, Recurrent bacterial infections, Abnor... OMIM:308220
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections OMIM:233670
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgA level, Recurrent upper and lower respiratory tract infections, Recurren... OMIM:605258
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Neutropenia, Recur... ORPHA:70592
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Decreased circulating total IgM, Recurrent bacterial infections,... OMIM:613494
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating IgA level, Recurrent bacterial infections, Decreased circulating total IgM,... OMIM:613500
Immunodeficiency 61
Frequent Giardia lamblia infestation, Recurrent bacterial infections, Recurrent sinusitis, Recurr... OMIM:300310
Complement Component 7 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:610102
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent bacterial infections, Neutropenia, Recurrent respiratory infections, Recurrent otitis m... OMIM:616022
Mannose-Binding Lectin Deficiency
Recurrent meningococcal disease, Disseminated cryptosporidium infection, Recurrent herpes, Recurr... OMIM:614372
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Recurrent fungal infections, Lymphopenia, Recurrent bacterial infections, Neutropenia, Recurrent ... OMIM:614868
Immunodeficiency, Common Variable, 3
Decreased circulating IgA level, Reduced isohemagglutinin level, Recurrent bacterial infections, ... OMIM:613493
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... OMIM:606843
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgA level, Neutropenia, Decreased circulating IgG level, Decreased circulat... OMIM:613502
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Increased circulating antibody level, Acute monocytic leukemia, Recurrent bacterial infections, E... OMIM:202700
Immunodeficiency 34
Recurrent mycobacterial infections, Severe recurrent varicella OMIM:300645
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgA level, Recurrent upper and lower respiratory tract infections, Decrease... OMIM:608106
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent bacterial infections,... OMIM:612692
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Complement Component 8 Deficiency, Type Ii
Meningitis, Recurrent Neisserial infections OMIM:613789
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Recurrent infections, Recurrent respiratory infections, Neutropenia OMIM:615214
Cernunnos-Xlf Deficiency
Lymphopenia, Recurrent bacterial infections, B lymphocytopenia, T lymphocytopenia, Decreased circ... ORPHA:169079
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Recurrent candida infections, Recurrent mycobacterial infections, Histoplasmosis, Severe toxoplas... ORPHA:319552
Immunodeficiency 33
Increased circulating IgA level, Recurrent bacterial infections, Decreased circulating total IgM,... OMIM:300636
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Neutrophil Immunodeficiency Syndrome
Abnormality of neutrophil physiology, Leukocytosis ORPHA:183707
Immunodeficiency 51
Chronic furunculosis, Chronic oral candidiasis, Recurrent cutaneous fungal infections, Abnormal l... OMIM:613953
Immunodeficiency, Common Variable, 13
Recurrent bacterial infections, B lymphocytopenia, Decreased circulating antibody level, Pancytop... OMIM:616873
Immunodeficiency, Common Variable, 1
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Decreased ... OMIM:607594
Immunodeficiency 12
Recurrent viral infections, Recurrent bacterial infections OMIM:615468
Whim Syndrome 1
Decreased circulating IgG level, Recurrent bacterial infections, Recurrent upper respiratory trac... OMIM:193670
Immunodeficiency 84
Splenomegaly, Recurrent bacterial infections, B lymphocytopenia, Perianal abscess, Persistent EBV... OMIM:619437
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Adult Idiopathic Neutropenia
Recurrent fungal infections, Lymphopenia, Recurrent bacterial infections, Monocytosis, Helicobact... ORPHA:2688
Immunodeficiency 67
Recurrent streptococcal infections, Recurrent staphylococcal infections, Increased circulating Ig... OMIM:607676
Cd8 Deficiency, Familial
Recurrent viral infections, Recurrent bacterial infections, Absence of CD8-positive T cells, Recu... OMIM:608957
Agammaglobulinemia 8A, Autosomal Dominant
B lymphocytopenia, Recurrent infections, Recurrent otitis media, Agammaglobulinemia, Post-vaccina... OMIM:616941
Ficolin 3 Deficiency
Recurrent lower respiratory tract infections, Recurrent abscess formation, Recurrent Staphylococc... OMIM:613860
Immune Deficiency Disease
Recurrent bacterial infections, Decreased circulating total IgM, Recurrent viral infections OMIM:242850
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent protozoan infections, Recurrent infection of the gastrointestinal tract, Panhypogammagl... ORPHA:572
Immunodeficiency, Common Variable, 2
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Partial absence o... OMIM:240500
Immunodeficiency 31B
Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis OMIM:613796
Bare Lymphocyte Syndrome, Type Ii
Recurrent protozoan infections, Recurrent fungal infections, Recurrent viral infections, Recurren... OMIM:209920
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections OMIM:616126
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of naive T cells, Decreased circulating IgA level, Recurrent bacterial skin ... ORPHA:276
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Recurrent fungal infections, Decreased circulating total IgM, Recurrent bacterial infections, Eos... OMIM:243700
Griscelli Syndrome, Type 2
Recurrent bacterial infections, Reduced delayed hypersensitivity, Hemophagocytosis, Hepatosplenom... OMIM:607624
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent mycobacterial infections, Recurrent gastroenteritis, Decreased circulating IgA level, R... ORPHA:275
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion
Hypouricemia OMIM:307830
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections, Monocytopenia, Neutropenia ORPHA:86788
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Immunodeficiency 21
Recurrent fungal infections, Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemi... OMIM:614172
Immunodeficiency With Hyper-Igm, Type 4
Recurrent infection of the gastrointestinal tract, Recurrent bacterial infections, Recurrent uppe... OMIM:608184
Immunodeficiency 36
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Splenomegaly, Recu... OMIM:616005
Immunodeficiency, Common Variable, 6
Decreased specific pneumococcal antibody level, Recurrent bacterial infections, Chronic decreased... OMIM:613496
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent bacterial skin infections, Splenomegaly, Recurrent Klebsiella infections, Recurrent Bur... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent bacterial skin infections, Splenomegaly, Recurrent Klebsiella infections, Recurrent Bur... OMIM:233710
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections, Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia OMIM:300299
Agammaglobulinemia 1, Autosomal Recessive
Neutropenia, Recurrent bacterial infections, B lymphocytopenia, Panhypogammaglobulinemia, Recurre... OMIM:601495
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent bacterial skin infections, Splenomegaly, Recurrent Klebsiella infections, Recurrent Bur... OMIM:233690
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Decreased circulating IgA level, Recurrent upper and lower respiratory tra... ORPHA:331206
Immunodeficiency 81
Impaired collagen-induced platelet aggregation, Abnormally low T cell receptor excision circle le... OMIM:619374
Congenital Disorder Of Glycosylation, Type Iic
Bronchiolitis, Reduction of neutrophil motility, Neutrophilia, Recurrent otitis media OMIM:266265
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration OMIM:219750
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Dec... OMIM:618986
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent bacterial infections, Recurrent pneumonia, Recurrent tonsillitis OMIM:613779
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Recurrent bacterial infections, Absent circulating B cells, Thrombocytopenia OMIM:619693
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Recurrent bacterial infections, Acute lymphoblastic leukemia, Neutropenia OMIM:610738
Omenn Syndrome
Recurrent fungal infections, Hypoproteinemia, Splenomegaly, Recurrent bacterial infections, Hypop... OMIM:603554
Thymic Aplasia
Recurrent candida infections, Decreased proportion of naive T cells, Recurrent streptococcus pneu... ORPHA:83471
Immunodeficiency With Hyper-Igm, Type 1
Impaired memory B cell generation, Sepsis, Decreased circulating IgE, Decreased circulating IgA l... OMIM:308230
Proteasome-Associated Autoinflammatory Syndrome 2
Increased circulating IgA level, Elevated circulating C-reactive protein concentration, Abnormal ... OMIM:618048
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Cutaneous abscess, Recurrent fungal infections, Eosinophilia, Chronic mucocutaneous candidiasis, ... OMIM:147060
Purine Nucleoside Phosphorylase Deficiency
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Splenomegaly, Increased circul... OMIM:613179
Ectodermal Dysplasia And Immunodeficiency 1
Increased circulating IgA level, Abnormal circulating IgG level, Recurrent bacterial infections, ... OMIM:300291
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Decreased circulating renin level, Decreased serum creatinine, Hyponatremia OMIM:300539
Interstitial Nephritis, Karyomegalic
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:614817
Lactic Acidosis, Chronic Adult Form
Hyperuricemia OMIM:150170
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Neutrophilia, Leukocytosis, Abnormally low T cell receptor excision circle level, Impaired neutro... OMIM:608203
Selective Igm Deficiency
Onychomycosis, Recurrent infection of the gastrointestinal tract, Sepsis, Severe viral infection,... ORPHA:331235
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent mycobacterial infections, Recurrent upper and lower respiratory tract infections, Recur... ORPHA:911
Complement Factor B Deficiency
Recurrent meningococcal disease, Meningitis, Recurrent bacterial infections OMIM:615561
Leukocyte Adhesion Deficiency, Type I
Elevated circulating C-reactive protein concentration, Leukocytosis, Recurrent bacterial infectio... OMIM:116920
Granulomatous Disease, Chronic, X-Linked
Impaired oxidative burst, Recurrent bacterial skin infections, Splenomegaly, Recurrent Klebsiella... OMIM:306400
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
Specific Granule Deficiency 2
Neutropenia, Recurrent bacterial infections, Sepsis, Thrombocytopenia, Recurrent pneumonia, Recur... OMIM:617475
Autosomal Dominant Severe Congenital Neutropenia
Recurrent infection of the gastrointestinal tract, Lymphopenia, Recurrent bacterial infections, E... ORPHA:486
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased specific anti-polysaccharide antibody level, Decreased circulating IgA level, Recurrent... OMIM:606367
Ch├ędiak-Higashi Syndrome
Increased circulating ferritin concentration, Hemophagocytosis, Increased proportion of CD25+ mas... ORPHA:167
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Enteroviral dermatomyositis syndrome, Pyoderma, Recurrent bacterial infections, Recurrent urinary... OMIM:307200
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Onychomycosis, Lymphopenia, Recurrent tonsillitis, Splenomegaly, Hepatosplenomegaly, Abscess, Hem... OMIM:618935
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Recurrent tonsillitis, Pulmonar... ORPHA:183675
Tyrosinosis
Hypertyrosinemia OMIM:276800
Tubulointerstitial Nephritis With Uveitis
Elevated circulating creatinine concentration OMIM:607665
Renal Tubular Acidosis, Distal, 1
Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia OMIM:179800
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Decreased circulating IgA level, Recurrent fungal infections, Lymphopenia, Splenomegaly, Absent s... OMIM:102700
Immunodeficiency 27B
Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections OMIM:615978
Pgm3-Cdg
Abnormal proportion of CD8-positive T cells, Sepsis, Bone marrow hypocellularity, Recurrent viral... ORPHA:443811
Chediak-Higashi Syndrome
Recurrent bacterial skin infections, Hemophagocytosis, Splenomegaly, Abnormal dense granules, Rec... OMIM:214500
Fanconi Renotubular Syndrome 3
Elevated circulating creatinine concentration, Aminoaciduria OMIM:615605
Histidinemia
Hyperhistidinemia, Histidinuria OMIM:235800
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration OMIM:619468
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Combined Immunodeficiency Due To Crac Channel Dysfunction
Recurrent mycobacterial infections, Recurrent fungal infections, Splenomegaly, Sepsis, Recurrent ... ORPHA:169090
Necrobiosis Lipoidica
Abnormality of neutrophil physiology, Granuloma ORPHA:542592
Idiopathic Non-Lupus Full-House Nephropathy
Elevated circulating creatinine concentration ORPHA:567544
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Recurrent bronchitis, Recurrent Haemophilus influenzae infections OMIM:300455
Immunodeficiency 23
Neutropenia, Lymphopenia, Eosinophilia, Abscess, Increased circulating IgG level, Severe varicell... OMIM:615816
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hepatosplenomegaly, Recurrent bacterial... OMIM:612840
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased serum creatinine, Hypocystinemia OMIM:617744
Immunodeficiency 10
Autoimmune hemolytic anemia, Recurrent bacterial infections, Thrombocytopenia, Recurrent infections OMIM:612783
Preeclampsia
Elevated circulating creatinine concentration ORPHA:275555
Hypouricemia, Renal, 2
Hypouricemia OMIM:612076
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration OMIM:616733
Adenine Phosphoribosyltransferase Deficiency
Elevated circulating creatinine concentration OMIM:614723
Hypouricemia, Hypercalcinuria, And Decreased Bone Density
Hypouricemia OMIM:242050
Coach Syndrome 2
Elevated circulating creatinine concentration OMIM:619111
Congenital Disorder Of Glycosylation, Type Iif
Recurrent bacterial infections, Macrothrombocytopenia, Neutropenia, Thrombocytopenia, Decreased p... OMIM:603585
Cerebral Creatine Deficiency Syndrome 2
Elevated circulating guanidinoacetic acid concentration, Decreased serum creatinine OMIM:612736
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612926
Indolent Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Mastocytosis, Abnormal mast cell morphology, Splenomegaly ORPHA:98848
Complement Component 5 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:609536
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612922
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Nonspherocytic hemolytic anemia, Spontaneous hemolytic crises, Impaired neutrophil bactericidal a... OMIM:613470
Cryoglobulinemia, Familial Mixed
Elevated circulating creatinine concentration OMIM:123550
C3 Glomerulopathy
Elevated circulating creatinine concentration ORPHA:329918
Vici Syndrome
Recurrent fungal infections, Decreased circulating IgG level, Recurrent bacterial infections, Dec... OMIM:242840
Hermansky-Pudlak Syndrome 2
Enlarged platelet dense granules, Neutropenia, Chronic oral candidiasis, Splenomegaly, Recurrent ... OMIM:608233
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Recurrent fungal infections, Chronic oral candidiasis, Abnormal T cell subset distribution, Decre... ORPHA:221139
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612925
Complement Factor I Deficiency
Recurrent streptococcus pneumoniae infections, Recurrent urinary tract infections, Recurrent meni... OMIM:610984
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine ORPHA:54057
Leukocyte Adhesion Deficiency
Recurrent fungal infections, Chronic oral candidiasis, Abnormality of neutrophil physiology, Leuk... ORPHA:2968
X-Linked Lymphoproliferative Disease
Increased circulating ferritin concentration, Hemophagocytosis, Aplastic anemia, B lymphocytopeni... ORPHA:2442
Whim Syndrome
Lymphopenia, Sepsis, Recurrent bacterial infections, Recurrent upper respiratory tract infections... ORPHA:51636
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Elevated circulating creatinine concentration, Hyperuricemia ORPHA:79233
Aregenerative Anemia
Abnormality of interleukin secretion, Abnormal proportion of CD8-positive T cells, Neutropenia, E... ORPHA:101096
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Lymphopenia, Splenomegaly, Sepsis, Recurrent urinary tract infections, Recurrent bacterial infect... OMIM:612541
Shwachman-Diamond Syndrome
Increased mean corpuscular volume, Neutropenia, Hypoamylasemia, Sepsis, Recurrent bacterial infec... ORPHA:811
Immunodeficiency 47
Splenomegaly, Decreased circulating total IgA, Decreased circulating total IgM, Recurrent bacteri... OMIM:300972
Nephronophthisis 2
Elevated circulating creatinine concentration, Hyperkalemia OMIM:602088
Kenny-Caffey Syndrome, Type 1
Anemia, Recurrent bacterial infections, Hypomagnesemia, Hypocalcemia OMIM:244460
Histidinemia
Hyperhistidinemia, Histidinuria ORPHA:2157
Congenital Disorder Of Glycosylation, Type Ih
Elevated circulating creatinine concentration, Hypoalbuminemia OMIM:608104
Mirage Syndrome
Lymphopenia, Recurrent bacterial infections, Sepsis, Recurrent urinary tract infections, Leukopen... OMIM:617053
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated alpha-fetoprotein, Elevated circulating creatinine concentration, Hypokalemia OMIM:613095
Aggressive Systemic Mastocytosis
Neutropenia, Abnormal mast cell morphology, Leukocytosis, Hepatosplenomegaly, Thrombocytopenia, I... ORPHA:98850
Postinfectious Vasculitis
Recurrent candida infections, Increased circulating antibody level, Recurrent streptococcus pneum... ORPHA:48435
Mast Cell Sarcoma
Mastocytosis, Splenomegaly ORPHA:66661
Relapsing Fever
Increased total bilirubin, Elevated circulating creatinine concentration, Elevated circulating C-... ORPHA:91547
Sickle Cell Anemia
Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia ORPHA:232
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Elevated circulating creatinine concentration OMIM:614376
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated circulating long chain fatty acid concentration, Hyperammonemia, Elevated circulating cr... OMIM:608836
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:235400
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Recurrent bacterial infections, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:241410
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Hyperbilirubinemia ORPHA:542323
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hypoproteinemia, Splenomegaly, Leukocytosis, Recurrent bacterial infections, Elevated circulating... OMIM:615895
Mannosidosis, Alpha B, Lysosomal
Recurrent bacterial infections, Decreased circulating antibody level, Vacuolated lymphocytes, Spl... OMIM:248500
Thrombotic Thrombocytopenic Purpura, Hereditary
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:274150
Acute Interstitial Pneumonia
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentration ORPHA:79126
Systemic Mastocytosis With Associated Hematologic Neoplasm
Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Myeloproliferative disor... ORPHA:98849
Diffuse Alveolar Hemorrhage
Elevated circulating creatinine concentration ORPHA:90060
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Hemophagocytosis, Intraalveolar phospholipid accumu... ORPHA:470
Sickle Cell Anemia
Leukocytosis, Splenomegaly, Recurrent bacterial infections, Hemolytic anemia, Target cells, Incre... OMIM:603903
46,Xy Sex Reversal 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:154230
Immunodeficiency 87 And Autoimmunity
Hypokalemia, Elevated circulating C-reactive protein concentration, Recurrent fungal infections, ... OMIM:619573
Focal Facial Dermal Dysplasia Type Iv
Abnormal mast cell morphology ORPHA:398189
Congenital Disorder Of Glycosylation, Type Iit
Hypotriglyceridemia, Decreased HDL cholesterol concentration, Decreased serum creatinine OMIM:618885
Idiopathic Bronchiectasis
Recurrent lower respiratory tract infections, Recurrent Haemophilus influenzae infections ORPHA:60033
Hypocomplementemic Urticarial Vasculitis
Recurrent bacterial infections, Meningitis, Splenomegaly ORPHA:36412
Juvenile Nephropathic Cystinosis
Hypophosphatemia, Hypokalemia, Hypocalcemia, Aminoaciduria, Hypocalcemic tetany, Elevated circula... ORPHA:411634
Aapoaiv Amyloidosis
Hyperlipidemia, Elevated circulating creatinine concentration ORPHA:439232
Senior-Loken Syndrome 1
Elevated circulating creatinine concentration OMIM:266900
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Elevated circulating creatinine concentration, Hyperuricemia OMIM:174000
Dopamine Beta-Hydroxylase Deficiency
Elevated circulating creatinine concentration, Increased blood urea nitrogen ORPHA:230
Hereditary Amyloidosis With Primary Renal Involvement
Decreased circulating apolipoprotein AI concentration, Decreased HDL cholesterol concentration, E... ORPHA:85450
Glycogen Storage Disease Ib
Hyperlipidemia, Splenomegaly, Recurrent bacterial infections, Hyperuricemia, Neutropenia OMIM:232220
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:223900
Bacterial Toxic-Shock Syndrome
Elevated circulating creatinine concentration, Hypoalbuminemia, Elevated circulating creatine kin... ORPHA:36234
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Elevated circulating creatinine concentration ORPHA:247691
Primary Ciliary Dyskinesia
Recurrent mycobacterial infections, Polysplenia, Recurrent otitis media, Recurrent sinopulmonary ... ORPHA:244
Igg4-Related Retroperitoneal Fibrosis
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... ORPHA:49041
Mastocytosis
Splenomegaly, Mastocytosis, Chronic leukemia, Hypercalcemia, Acute leukemia ORPHA:98292
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia, Hyponatremia, Hyp... ORPHA:90038
Oligomeganephronia
Elevated circulating creatinine concentration ORPHA:2260
Multiple Myeloma
Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia ORPHA:29073
Papillorenal Syndrome
Elevated circulating creatinine concentration OMIM:120330
Chromomycosis
Recurrent bacterial infections ORPHA:182
Autosomal Dominant Polycystic Kidney Disease
Elevated circulating creatinine concentration ORPHA:730
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hyperlipidemia, Abnormal myeloid leukocyte morphology, Recurrent bacterial infections, Hypertrigl... ORPHA:79259
Structural Heart Defects And Renal Anomalies Syndrome
Elevated circulating creatinine concentration OMIM:617478
Cardiogenic Shock
Elevated circulating creatinine concentration ORPHA:97292
Infantile Systemic Hyalinosis
Recurrent bacterial infections ORPHA:2176
Hemorrhagic Fever-Renal Syndrome
Elevated circulating creatinine concentration, Hyperphosphatemia, Hyperkalemia ORPHA:340
Marburg Hemorrhagic Fever
Hypokalemia, Hyperammonemia, Elevated circulating creatine kinase concentration, Elevated circula... ORPHA:99826
Renal Cysts And Diabetes Syndrome
Elevated circulating creatinine concentration, Hyperuricemia OMIM:137920
Say-Barber-Miller Syndrome
Transient hypogammaglobulinemia of infancy, Decreased circulating IgG level, Impaired neutrophil ... ORPHA:3132
Pauci-Immune Glomerulonephritis
Elevated circulating creatinine concentration ORPHA:93126
Igg4-Related Kidney Disease
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... ORPHA:449395
Hennekam-Beemer Syndrome
Mastocytosis ORPHA:2135
Yellow Fever
Elevated circulating creatine kinase concentration, Elevated circulating creatinine concentration... ORPHA:99829
Atrial Septal Defect, Coronary Sinus Type
Recurrent bacterial infections ORPHA:99104
Biliary, Renal, Neurologic, And Skeletal Syndrome
Increased circulating ferritin concentration, Hyperbilirubinemia, Conjugated hyperbilirubinemia, ... OMIM:619534
Atrial Septal Defect, Ostium Secundum Type
Recurrent bacterial infections ORPHA:99103
Tubulointerstitial Nephritis And Uveitis Syndrome
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... ORPHA:91500
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Recurrent bacterial infections, Recurrent infections, Recurrent respiratory infections ORPHA:2273
Hereditary Sensory And Autonomic Neuropathy Type 4
Tooth abscess, Anemia, Abscess, Recurrent Staphylococcus aureus infections ORPHA:642
Pmm2-Cdg
Reduced thyroxin-binding globulin, Hypoalbuminemia, Impaired neutrophil chemotaxis ORPHA:79318

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 Gbp5

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 Gbp5.

There are 5 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Gbp5em1(IMPC)Wtsi PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation. Nature immunology (December 2019) Gbp5em1(IMPC)Wtsi PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Gbp5em1Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019)