banner
Genes Phenotypes Help, News, Blog

Gene: Clic4 MGI:1352754

Log in to follow
Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
chloride intracellular channel 4
Synonyms:
mtCLIC,  mc3s5,  D0Jmb3

Order Alleles

IMPC Data Collections

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

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.

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 Clic4 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 Clic4 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Capillary Malformations, Congenital
Nevus flammeus OMIM:163000
Nevus Comedonicus
Nevus comedonicus OMIM:617025
Rheumatoid Nodulosis
Subcutaneous nodule OMIM:180350
Knuckle Pads
Subcutaneous nodule OMIM:149100
Elastosis Perforans Serpiginosa
Nevus OMIM:130100
Milia, Multiple Eruptive
Milia OMIM:157400
Proliferating Trichilemmal Cyst
Epidermoid cyst, Skin ulcer ORPHA:492
Dyschromatosis Universalis Hereditaria 3
Hypopigmented macule, Hypermelanotic macule OMIM:615402
Nevus, Epidermal
Numerous nevi, Melanocytic nevus OMIM:162900
Non-Epidermolytic Palmoplantar Keratoderma
Papule, Erythema, Skin ulcer ORPHA:2337
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection
Pyoderma gangrenosum OMIM:619986
Dermatofibrosarcoma Protuberans
Subcutaneous nodule, Erythema, Skin ulcer ORPHA:31112
Mannose-Binding Lectin Deficiency
Recurrent herpes, Recurrent Klebsiella infections, Recurrent skin infections, Disseminated crypto... OMIM:614372
Aplasia Cutis Congenita Of Limbs, Autosomal Recessive
Aplasia cutis congenita, Congenital absence of skin of limbs OMIM:600360
Hyperkeratosis Lenticularis Perstans
Papule, Aplasia/Hypoplasia of the skin, Skin ulcer ORPHA:409
Immunodeficiency, Common Variable, 5
Recurrent respiratory infections, Chronic decreased circulating total IgG, Recurrent bacterial in... OMIM:613495
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent bacterial infections, Decreased circulating IgG level, Recurrent candida infections OMIM:242870
Congenital Factor Xii Deficiency
Penetrating foot ulcers ORPHA:330
Necrobiosis Lipoidica
Inflammatory abnormality of the skin, Indurated nodule, Skin nodule, Erythema, Skin ulcer, Atroph... ORPHA:542592
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Tegumentary leishmaniasis susceptibility, Pneumonia, Recurrent mycobacterial infections, BCGosis,... ORPHA:319552
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Immunodeficiency 61
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Decreased circulating IgG... OMIM:300310
Immunodeficiency 51
Recurrent respiratory infections, Recurrent skin infections, Pneumonia, Eczema, Pustule, Recurren... OMIM:613953
Chilblain Lupus 1
Skin ulcer OMIM:610448
Aplasia Cutis Congenita
Aplasia cutis congenita over the scalp vertex, Skin ulcer, Congenital localized absence of skin ORPHA:1114
Immunodeficiency 35
Recurrent respiratory infections, Recurrent viral infections, Recurrent mycobacterial infections,... OMIM:611521
Chilblain Lupus
Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Skin ulcer, Malar rash, Incr... ORPHA:90280
Agammaglobulinemia 3, Autosomal Recessive
Agammaglobulinemia, Recurrent bacterial infections, Absent isohemagglutinin level, Recurrent otit... OMIM:613501
Juvenile Hyaline Fibromatosis
Subcutaneous nodule, Papule, Aplasia/Hypoplasia of the skin, Skin ulcer ORPHA:2028
Dracunculiasis
Recurrent cutaneous abscess formation, Skin rash, Pruritus, Subcutaneous nodule, Skin ulcer ORPHA:231
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Recurrent respiratory infections, Failure to thrive, Recurrent bacterial ... OMIM:616022
Immunodeficiency, Common Variable, 3
Recurrent respiratory infections, Decreased circulating total IgM, Recurrent bacterial infections... OMIM:613493
Agammaglobulinemia 2, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Agammaglobulinemia, Decreased circulating ... OMIM:613500
Immunodeficiency With Hyper-Igm, Type 2
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Increased ci... OMIM:605258
Aplasia Cutis-Myopia Syndrome
Aplasia cutis congenita, Skin ulcer ORPHA:1117
Familial Keratoacanthoma
Papule, Subcutaneous nodule, Skin ulcer ORPHA:493
Immunodeficiency 34
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis OMIM:300645
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Aplasia/Hypoplasia of the skin, Thin skin, Skin ulcer, Purpura ORPHA:743
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Failure to thrive, Skin rash, Recurrent viral infections, Recurrent mycobacterial infections, Rec... ORPHA:275
Classic Mycosis Fungoides
Skin rash, Eczema, Pruritus, Erythema, Hypopigmented skin patches, Skin ulcer, Skin plaque, Dry skin ORPHA:2584
Immunodeficiency With Hyper-Igm, Type 5
Epididymitis, Increased circulating IgM level, Recurrent bacterial infections, Recurrent upper an... OMIM:608106
Complement Component 7 Deficiency
Recurrent Neisserial infections, Recurrent meningococcal disease OMIM:610102
Buerger Disease
Skin ulcer ORPHA:36258
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Recurrent bacterial inf... OMIM:613502
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent protozoan infections, Recurrent viral infections OMIM:308220
Neuropathy, Hereditary Sensory, Type Iic
Acral ulceration OMIM:614213
Pruritic Urticarial Papules And Plaques Of Pregnancy
Striae distensae OMIM:178995
Striae Distensae, Familial
Striae distensae OMIM:185200
Agammaglobulinemia 6, Autosomal Recessive
Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Recurrent bacterial inf... OMIM:612692
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome
Skin ulcer ORPHA:2218
Acrogeria
Excessive wrinkled skin, Aplasia/Hypoplasia of the skin, Thin skin, Skin ulcer ORPHA:2500
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Whim Syndrome 1
Recurrent upper respiratory tract infections, Bronchiectasis, Decreased circulating antibody leve... OMIM:193670
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Chronic lymphocytic meningitis, Recurrent urinary tract infections, Cholangitis,... OMIM:209920
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Acral ulceration, Skin ulcer ORPHA:139578
Complement Component 8 Deficiency, Type Ii
Recurrent Neisserial infections, Meningitis OMIM:613789
Lichen Planopilaris
Dermal atrophy, Papule, Hypopigmented skin patches, Skin ulcer ORPHA:525
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent staphylococcal infections, Recurrent streptococcus pneu... ORPHA:70592
Immunodeficiency 33
Pneumocystis jirovecii pneumonia, Increased circulating IgA level, Decreased circulating total Ig... OMIM:300636
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Immunodeficiency, Common Variable, 2
Recurrent pneumonia, Bronchiectasis, Recurrent bacterial infections, Conjunctivitis, Recurrent si... OMIM:240500
Pyoderma Gangrenosum
Pustule, Skin ulcer, Atrophic scars, Increased circulating antibody level, Skin vesicle, Papule ORPHA:48104
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Acute Lung Injury
Increased circulating interleukin 6 concentration, Acute pancreatitis, Pneumonia, Elevated circul... ORPHA:178320
Ficolin 3 Deficiency
Recurrent Staphylococcus aureus infections, Recurrent lower respiratory tract infections, Recurre... OMIM:613860
Myelolymphatic Insufficiency
Recurrent bacterial infections, Recurrent viral infections OMIM:310350
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Recurrent he... ORPHA:572
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Failure to thrive, Eczema, Abnormal immunoglobulin level, Invasive fungal infection, Recurrent my... ORPHA:98813
Reticular Dysgenesis
Skin rash, Skin ulcer, Decreased circulating antibody level ORPHA:33355
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Recurrent sinopulmonary infections, Eczema, Eosinophilic infiltration of the esophagus, Recurrent... OMIM:243700
Immunodeficiency With Hyper-Igm, Type 3
Increased circulating IgM level, Recurrent bacterial infections, Decreased circulating IgE, Decre... OMIM:606843
Immunodeficiency, Common Variable, 1
Pneumonia, Recurrent pneumonia, Bronchiectasis, Decreased circulating total IgM, Recurrent bacter... OMIM:607594
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent bacterial skin infections, Increased circulating IgE level, Atopic dermatitis, Skin ulcer ORPHA:217390
Ichthyosis, Congenital, Autosomal Recessive 12
White scaling skin OMIM:617320
Agammaglobulinemia 9, Autosomal Recessive
Failure to thrive, Seborrheic dermatitis, Agammaglobulinemia, Recurrent bacterial infections, Ecz... OMIM:619693
Adult Acute Respiratory Distress Syndrome
Increased circulating interleukin 6 concentration, Pneumonia, Sepsis, Abnormal circulating interl... ORPHA:70578
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent bacterial skin infections, Recurrent herpes, Failure to thrive, Skin rash, Pneumonia, A... ORPHA:276
Brooke-Spiegler Syndrome
Skin-colored papule, Skin nodule, Skin ulcer, Nodular changes affecting the eyelids ORPHA:79493
Papa Syndrome
Pustule, Acne, Skin ulcer, Increased circulating antibody level ORPHA:69126
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Erythematous plaque, Erythematous papule, Skin ulcer ORPHA:86884
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Cd8 Deficiency, Familial
Recurrent respiratory infections, Bronchiectasis, Recurrent bacterial infections, Recurrent viral... OMIM:608957
Immunodeficiency 31A
Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent... OMIM:614892
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections OMIM:616126
Immunodeficiency 12
Skin rash, Recurrent viral infections, Bronchiectasis, Cheilitis, Recurrent bacterial infections,... OMIM:615468
Limited Cutaneous Systemic Sclerosis
Hypopigmented skin patches, Skin ulcer ORPHA:220402
Peeling Skin Syndrome 2
Erythema, Scaling skin OMIM:609796
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Recurrent herpes, Cholangitis, Sepsis, Pulmonary tuberculosis, Cholecystitis, ... ORPHA:183675
Immunodeficiency 31B
Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections OMIM:613796
T-Cell Immunodeficiency With Thymic Aplasia
Sinusitis, Sepsis, Recurrent candida infections, Hypocalcemic tetany, Opportunistic infection, Ch... ORPHA:83471
Immunodeficiency, Common Variable, 6
Recurrent respiratory infections, Glomerulonephritis, Recurrent bacterial infections, Chronic dec... OMIM:613496
Agammaglobulinemia 1, Autosomal Recessive
Recurrent respiratory infections, Recurrent enteroviral infections, Recurrent pneumonia, Bronchie... OMIM:601495
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent skin infections, Pyoderma gangrenosum, Decreased circulating antibody level OMIM:616576
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent bacterial infections, Recurrent pneumonia, Membranoproliferative glomerulonephritis, Re... OMIM:613779
Immunodeficiency 110 With Lymphoproliferation
Recurrent skin infections, Recurrent viral infections, Recurrent upper respiratory tract infectio... OMIM:614868
Ollier Disease
Subcutaneous nodule, Skin ulcer ORPHA:296
Macrophage Activation Syndrome
Increased inflammatory response, Increased circulating interleukin 6 concentration, Hypertriglyce... ORPHA:158061
Familial Multiple Nevi Flammei
Nevus flammeus, Skin ulcer, Hypermelanotic macule, Papule ORPHA:624
Proteasome-Associated Autoinflammatory Syndrome 2
Skin rash, Neutrophilic infiltration of the skin, Elevated circulating C-reactive protein concent... OMIM:618048
Bare Lymphocyte Syndrome, Type I
Skin ulcer OMIM:604571
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Recurrent enteroviral i... OMIM:307200
Immunodeficiency, Common Variable, 13
Recurrent bacterial infections, Decreased circulating antibody level OMIM:616873
Selective Igm Deficiency
Recurrent herpes, Fasciitis, Recurrent staphylococcal infections, Severe varicella zoster infecti... ORPHA:331235
Autosomal Dominant Epidermolytic Ichthyosis
Skin ulcer, Erythroderma ORPHA:312
Vulvovaginal Gingival Syndrome
Abnormality of tumor necrosis factor secretion ORPHA:83453
Leishmaniasis
Skin ulcer, Increased circulating antibody level, Pallor, Skin plaque, Papule ORPHA:507
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Recurrent sinopulmonary infections, Skin rash, Increased circulating IgE level, Recurrent pneumon... OMIM:147060
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Brain abscess, Increased circulating interleukin 6 concentration, Pneumonia, Myocar... ORPHA:544482
Cernunnos-Xlf Deficiency
Recurrent viral infections, Recurrent bacterial infections, Decreased circulating antibody level ORPHA:169079
Central Retinal Vein Occlusion
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... ORPHA:411527
Neuropathy, Hereditary Sensory And Autonomic, Type Iib
Acral ulceration OMIM:613115
Adult Idiopathic Neutropenia
Helicobacter pylori infection, Recurrent infections, Increased circulating IgM level, Recurrent b... ORPHA:2688
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Skin rash, Skin ulcer ORPHA:229717
Polyarteritis Nodosa
Erythema, Subcutaneous nodule, Skin ulcer ORPHA:767
Complement Factor B Deficiency
Pneumonia, Peritonitis, Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease OMIM:615561
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... OMIM:305390
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Cystic acne, Pyoderma gangrenosum, Acne OMIM:604416
Immunodeficiency With Hyper-Igm, Type 1
Failure to thrive, Dysgammaglobulinemia, Increased circulating IgA level, Meningitis, Sepsis, Hep... OMIM:308230
Familial Exudative Vitreoretinopathy
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... ORPHA:891
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Hypertriglyceridemia, Maculopapular exanthema,... ORPHA:540
Autosomal Dominant Hyper-Ige Syndrome
Skin rash, Eczema, Pruritus, Increased circulating IgE level, Skin ulcer, Skin vesicle, Papule ORPHA:2314
Prolidase Deficiency
Aplasia/Hypoplasia of the skin, Pruritus, Erythema, Crusting erythematous dermatitis, Skin ulcer,... ORPHA:742
Immunodeficiency 84
Perianal abscess, Recurrent bacterial infections, Persistent EBV viremia OMIM:619437
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Skin rash, Hypopigmented skin patches, Skin ulcer, Agammag... ORPHA:47
Prolidase Deficiency
Eczema, Crusting erythematous dermatitis, Skin ulcer, Increased circulating antibody level, Petec... OMIM:170100
Acquired Purpura Fulminans
Macule, Erythematous macule, Skin rash, Pyoderma gangrenosum, Macular purpura ORPHA:49566
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Recurrent bacterial infections, Increased circulating antibody level OMIM:202700
Sweet Syndrome
Predominantly dermal neutrophilic infiltrate, Increased circulating interleukin 6 concentration, ... ORPHA:3243
Calciphylaxis
Abnormality of skin physiology, Skin ulcer ORPHA:280062
Immunodeficiency With Hyper-Igm, Type 4
Osteomyelitis, Recurrent upper respiratory tract infections, Bronchiectasis, Recurrent bacterial ... OMIM:608184
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial skin infections, Skin rash, Pneumonia, Recurrent viral infections, Recurrent ... ORPHA:911
Exudative Vitreoretinopathy 1
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... OMIM:133780
Flynn-Aird Syndrome
Dermal atrophy, Skin ulcer ORPHA:2047
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Failure to thrive, Skin rash, Recurrent viral infections, Lymphadenitis, Decreased circulating an... ORPHA:331206
Chronic Mucocutaneous Candidiasis
Dyspareunia, Skin rash, Pruritus, Erythema, Skin ulcer, Papule ORPHA:1334
Hereditary Sensory And Autonomic Neuropathy Type 1
Penetrating foot ulcers, Skin ulcer ORPHA:36386
Immunodeficiency 27B
Recurrent mycobacterial infections, Osteomyelitis, Recurrent mycobacterium avium complex infectio... OMIM:615978
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Chronic sinusitis, Recurrent bronchitis, Recurrent Haemophilus influenzae infections, Otitis media OMIM:300455
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Recurrent respiratory infections, Psoriasiform dermatitis, Failure to thrive in infancy, Eczema, ... OMIM:606367
Beta-Thalassemia
Pallor, Skin ulcer ORPHA:848
Meige Disease
Recurrent bacterial skin infections, Recurrent skin infections, Skin ulcer, Atypical scarring of ... ORPHA:90186
Eales Disease
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... ORPHA:40923
Attenuated Chédiak-Higashi Syndrome
Skin ulcer ORPHA:352723
Adult Polyglucosan Body Disease
Skin ulcer ORPHA:206583
Dermatoosteolysis, Kirghizian Type
Aplasia/Hypoplasia of the skin, Skin ulcer ORPHA:1657
Immunodeficiency 36 With Lymphoproliferation
Persistent CMV viremia, Recurrent upper respiratory tract infections, Bronchiectasis, Persistent ... OMIM:616005
Immunodeficiency 67
Increased circulating IgE level, Recurrent streptococcal infections, Recurrent staphylococcal inf... OMIM:607676
Griscelli Syndrome, Type 2
Recurrent bacterial infections OMIM:607624
Squamous Cell Carcinoma Of The Anal Canal
Skin ulcer ORPHA:424019
Neuropathy, Hereditary Sensory And Autonomic, Type Ic
Skin ulcer OMIM:613640
Takayasu Arteritis
Subcutaneous nodule, Skin ulcer ORPHA:3287
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... OMIM:193235
Free Sialic Acid Storage Disease
Skin ulcer ORPHA:834
Purine Nucleoside Phosphorylase Deficiency
Recurrent urinary tract infections, Sinusitis, Hypouricemia, Increased circulating guanosine conc... OMIM:613179
Malakoplakia
Inflammatory abnormality of the skin, Skin rash, Abnormality of the menstrual cycle, Pruritus, Or... ORPHA:556
Neutrophilic Dermatosis, Acute Febrile
Cystic acne, Erythema, Pyoderma gangrenosum, Acne inversa OMIM:608068
Acute Radiation Syndrome
Inflammatory abnormality of the skin, Dermal atrophy, Scaling skin, Skin ulcer ORPHA:454831
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections OMIM:233670
Postinfectious Vasculitis
Elevated circulating C-reactive protein concentration, Severe varicella zoster infection, Recurre... ORPHA:48435
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Erythema, Skin ulcer, Skin fissure ORPHA:659
Infantile Myofibromatosis
Subcutaneous nodule, Skin ulcer ORPHA:2591
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Pyoderma gangrenosum, Chronic oral candidiasis OMIM:150550
Immunodeficiency 23
Recurrent respiratory infections, Membranoproliferative glomerulonephritis, Eczema, Recurrent sta... OMIM:615816
Reynolds Syndrome
Pruritus, Skin rash, Skin ulcer ORPHA:779
Leukocyte Adhesion Deficiency, Type I
Recurrent gram-negative bacterial infections, Osteomyelitis, Recurrent staphylococcal infections,... OMIM:116920
Pgm3-Cdg
Recurrent viral infections, Sepsis, Increased circulating IgG level, Chronic otitis media, Membra... ORPHA:443811
Cryoglobulinemic Vasculitis
Petechiae, Skin ulcer, Purpura ORPHA:91138
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous
Skin ulcer OMIM:245660
Specific Granule Deficiency 2
Recurrent pneumonia, Sepsis, Recurrent bacterial infections, Recurrent otitis media, Failure to t... OMIM:617475
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Absent specific antibody response, Failure to thrive, Sinusitis, Inflammatory abnormality of the ... OMIM:102700
Chronic Granulomatous Disease
Macule, Eczema, Hypermelanotic macule, Skin ulcer ORPHA:379
Werner Syndrome
Aplasia/Hypoplasia of the skin, Lack of skin elasticity, Secondary amenorrhea, Skin ulcer, Decrea... ORPHA:902
Complement Factor I Deficiency
Recurrent urinary tract infections, Recurrent skin infections, Glomerulonephritis, Recurrent Haem... OMIM:610984
Livedoid Vasculopathy
Superficial dermal perivascular inflammatory infiltrate, Recurrent skin infections, Skin ulcer, A... ORPHA:542643
Autosomal Dominant Severe Congenital Neutropenia
Recurrent sinopulmonary infections, Recurrent skin infections, Pneumonia, Recurrent ear infection... ORPHA:486
Omenn Syndrome
Pneumonia, Recurrent viral infections, Recurrent bacterial infections, Recurrent fungal infection... OMIM:603554
Specific Granule Deficiency 1
Recurrent bacterial infections OMIM:245480
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Increased circulating IgA level, Severe cytomegalovirus infection, Increase... OMIM:300291
Adult Syndrome
Dry skin, Thin skin, Skin ulcer, Melanocytic nevus ORPHA:978
Microscopic Polyangiitis
Erythema, Subcutaneous nodule, Skin rash, Skin ulcer ORPHA:727
Combined Immunodeficiency Due To Crac Channel Dysfunction
Pneumonia, Recurrent viral infections, Recurrent mycobacterial infections, Sepsis, Recurrent bact... ORPHA:169090
Psoriasis-Related Juvenile Idiopathic Arthritis
Anterior uveitis, Psoriasiform dermatitis, Skin rash, Iridocyclitis, Oligoarthritis, Uveitis, Ent... ORPHA:85436
Acrodermatitis Enteropathica
Pustule, Erythema, Dry skin, Skin ulcer ORPHA:37
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections, Eczema OMIM:300299
Idiopathic Bronchiectasis
Cachexia, Bronchiectasis, Recurrent Haemophilus influenzae infections, Acute infectious pneumonia... ORPHA:60033
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Acral ulceration OMIM:162400
Complement Component 5 Deficiency
Recurrent Neisserial infections, Generalized seborrheic dermatitis, Recurrent meningococcal disease OMIM:609536
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Osteomyelitis, Recurrent S... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Osteomyelitis, Recurrent S... OMIM:233710
Vitreoretinochoroidopathy
Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... OMIM:193220
Immunoglobulin A Vasculitis
Macule, Skin rash, Pustule, Orchitis, Erythema, Skin ulcer, Purpura ORPHA:761
Hereditary Spherocytosis
Maculopapular exanthema, Pallor, Skin ulcer ORPHA:822
Whim Syndrome
Sinusitis, Severe periodontitis, Pneumonia, Lymphadenitis, Recurrent upper respiratory tract infe... ORPHA:51636
Car T Cell Therapy-Associated Cytokine Release Syndrome
Increased inflammatory response, Increased circulating interleukin 6 concentration, Skin rash, El... ORPHA:542323
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Osteomyelitis, Recurrent S... OMIM:233690
Hereditary Acrokeratotic Poikiloderma
Eczema, Pustule, Erythema, Hypopigmented skin patches, Skin ulcer, Thin skin, Papule ORPHA:2907
Diffuse Cutaneous Systemic Sclerosis
Dyspareunia, Skin ulcer ORPHA:220393
Ectodermal Dysplasia-Blindness Syndrome
Skin ulcer ORPHA:1806
Juvenile Dermatomyositis
Skin rash, Pruritus, Erythema, Skin ulcer, Dry skin ORPHA:93672
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Urticarial plaque, Skin rash, Eczema, Erythema nodosum, Skin ulcer, Decreased circulating antibod... OMIM:615688
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Recurrent bacterial infections OMIM:610738
Beta-Thalassemia Intermedia
Hypogonadism, Pallor, Skin ulcer ORPHA:231222
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Chronic oral candidiasis, Recurrent urinary tract infections, Psoriasiform dermatitis, Recurrent ... ORPHA:221139
Infantile Systemic Hyalinosis
Subcutaneous nodule, Skin ulcer ORPHA:2176
Fusariosis
Maculopapular exanthema, Subcutaneous nodule, Skin ulcer, Skin detachment, Papule ORPHA:228119
Dyskeratosis Congenita
Macule, Aplasia/Hypoplasia of the skin, Hypermelanotic macule, Hypopigmented skin patches, Skin u... ORPHA:1775
Cushing Disease
Acne, Amenorrhea, Skin ulcer, Recurrent cutaneous fungal infections, Secondary amenorrhea, Thin s... ORPHA:96253
Blau Syndrome
Erythema nodosum, Eczema, Intermittent generalized erythematous papular rash, Skin ulcer OMIM:186580
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated circulating creatine kinase concentration, Eczema, Lymphadenitis, Recurrent bacterial in... OMIM:615895
Systemic Sclerosis
Recurrent skin infections, Cutaneous sclerotic plaque, Digital pitting scar, Pruritus, Spotty hyp... ORPHA:90291
Simple Cryoglobulinemia
Monoclonal elevation of circulating IgA, Monoclonal elevation of IgG, Localized skin lesion, Para... ORPHA:91139
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Acral ulceration OMIM:201300
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections ORPHA:86788
Incontinentia Pigmenti
Erythema, Skin rash, Hypopigmented skin patches, Skin ulcer ORPHA:464
Catastrophic Antiphospholipid Syndrome
Skin ulcer ORPHA:464343
Hypocomplementemic Urticarial Vasculitis
Episcleritis, Skin rash, Uveitis, Inflammatory abnormality of the eye, Recurrent bacterial infect... ORPHA:36412
Giant Cell Arteritis
Skin ulcer ORPHA:397
Leukocyte Adhesion Deficiency, Type Iii
Recurrent bacterial infections, Recurrent skin infections, Sepsis OMIM:612840
Dominant Beta-Thalassemia
Pallor, Skin ulcer ORPHA:231226
Mirage Syndrome
Hyponatremia, Recurrent urinary tract infections, Hyperkalemia, Sepsis, Recurrent bacterial infec... OMIM:617053
Immunodeficiency 47
Decreased circulating copper concentration, Decreased circulating antibody level, Decreased circu... OMIM:300972
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Acral ulceration OMIM:256840
Amoebiasis Due To Free-Living Amoebae
Unusual skin infection, Pustule, Subcutaneous nodule, Skin ulcer, Papule ORPHA:68
Wiskott-Aldrich Syndrome
Eczema, Abnormality of the menstrual cycle, Skin ulcer, Abnormal platelet function, Petechiae, Pu... ORPHA:906
Dermatomyositis
Aplasia/Hypoplasia of the skin, Pruritus, Erythema, Skin ulcer, Dry skin, Papule ORPHA:221
Immunodeficiency 10
Recurrent bacterial infections, Recurrent infections OMIM:612783
Lysinuric Protein Intolerance
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Abnormal circulating serin... ORPHA:470
Toxic Epidermal Necrolysis
Macule, Erythema, Skin ulcer ORPHA:537
Neuropathy, Hereditary Sensory And Autonomic, Type V
Acral ulceration OMIM:608654
Immunodeficiency 21
Osteomyelitis, Recurrent fungal infections, Recurrent mycobacterium avium complex infections, Rec... OMIM:614172
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Subcutaneous nodule, Skin ulcer, Scaling skin, Dry skin, Erysipelas ORPHA:2526
Parkes Weber Syndrome
Erythematous plaque, Capillary malformation, Scaling skin, Skin ulcer ORPHA:90307
Granulomatous Disease, Chronic, X-Linked
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Osteomyelitis, Recurrent S... OMIM:306400
Beta-Thalassemia Major
Pallor, Skin ulcer ORPHA:231214
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Retinal cotton wool spot, Gastrointestinal hemorrhage, Raynaud phenomenon, Abnormal retinal vascu... ORPHA:247691
Primary Sjögren Syndrome
Erythema nodosum, Skin ulcer, Decreased circulating antibody level, Increased circulating antibod... ORPHA:289390
Vici Syndrome
Decreased circulating IgG level, Recurrent respiratory infections, Failure to thrive, Elevated ci... OMIM:242840
Granulomatosis With Polyangiitis
Skin rash, Skin ulcer, Prostatitis, Papule, Purpura ORPHA:900
Kenny-Caffey Syndrome, Type 1
Recurrent bacterial infections, Hypocalcemia, Hypomagnesemia OMIM:244460
Granulomatosis With Polyangiitis
Skin ulcer OMIM:608710
Adenocarcinoma Of The Anal Canal
Skin ulcer ORPHA:424016
Chédiak-Higashi Syndrome
Hyponatremia, Recurrent bacterial skin infections, Recurrent respiratory infections, Hypertriglyc... ORPHA:167
Congenital Disorder Of Glycosylation, Type Iif
Recurrent bacterial infections OMIM:603585
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Neonatal sepsis, Recurrent respiratory infections, Recurrent urinary tract infections, Perianal a... OMIM:612541
Leprosy
Urticarial plaque, Hypopigmented macule, Skin nodule, Penetrating foot ulcers, Verrucous papule, ... ORPHA:548
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Recurrent bacterial infections, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:241410
Mannosidosis, Alpha B, Lysosomal
Recurrent bacterial infections, Decreased circulating antibody level OMIM:248500
Blau Syndrome
Skin rash, Erythema nodosum, Erythema, Skin ulcer, Dry skin, Papule ORPHA:90340
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Hypertriglyceridemia, Small for gestational age, Necrotizing enterocolitis, E... OMIM:619573
Atypical Werner Syndrome
Premature ovarian insufficiency, Aplasia/Hypoplasia of the skin, Lack of skin elasticity, Skin ul... ORPHA:79474
Hajdu-Cheney Syndrome
Dry skin, Skin ulcer ORPHA:955
Leukocyte Adhesion Deficiency
Sinusitis, Severe periodontitis, Recurrent staphylococcal infections, BCGosis, Sepsis, Conjunctiv... ORPHA:2968
Charcot-Marie-Tooth Disease Type 4B2
Penetrating foot ulcers ORPHA:99956
Chime Syndrome
Erythema, Skin ulcer ORPHA:3474
Shwachman-Diamond Syndrome
Sinusitis, Skin rash, Eczema, Pneumonia, Recurrent viral infections, Osteomyelitis, Sepsis, Hypoa... ORPHA:811
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Recurrent mycobacterial infections, Bronchiectasis, Chronic r... ORPHA:244
Oculocerebrorenal Syndrome Of Lowe
Atypical scarring of skin, Cryptorchidism, Azoospermia, Skin ulcer ORPHA:534
Parenteral Nutrition-Associated Cholestasis
Small for gestational age, Conjugated hyperbilirubinemia, Abnormal circulating fatty-acid concent... ORPHA:567983
Insensitivity To Pain, Congenital, With Anhidrosis
Acral ulceration OMIM:256800
Cushing Syndrome Due To Ectopic Acth Secretion
Acne, Amenorrhea, Skin ulcer, Recurrent cutaneous fungal infections, Secondary amenorrhea, Thin s... ORPHA:99889
Plague
Chapped lip, Skin rash, Erythema nodosum, Localized skin lesion, Skin ulcer, Dry skin ORPHA:707
Chromomycosis
Keratitis, Recurrent bacterial infections, Keratoconjunctivitis sicca ORPHA:182
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Hermansky-Pudlak Syndrome 2
Recurrent pneumonia, Recurrent bacterial infections, Periodontitis, Recurrent abscess formation, ... OMIM:608233
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Hyperlipidemia, Enterocolitis, Gout, Ulcerative colitis, Thyroiditis, Recur... ORPHA:79259
Glycogen Storage Disease Ib
Hyperlipidemia, Gout, Recurrent bacterial infections, Inflammation of the large intestine, Hyperu... OMIM:232220
Cystic Fibrosis
Recurrent Aspergillus infections, Recurrent respiratory infections, Sinusitis, Recurrent Burkhold... ORPHA:586
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Ecchymosis, Azoospermia, Skin ulcer ORPHA:2072
Aregenerative Anemia
Abnormality of interleukin secretion ORPHA:101096
Primary Sclerosing Cholangitis
Recurrent systemic pyogenic infections, Hepatitis, Uveitis, Weight loss, Polyclonal elevation of ... ORPHA:171
Chronic Graft Versus Host Disease
Skin vesicle, Erythema, Intermittent generalized erythematous papular rash, Skin ulcer ORPHA:99921
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Atypical scarring of skin, Inflammatory abnormality of the skin, Skin rash, Skin ulcer ORPHA:95455
Chediak-Higashi Syndrome
Recurrent bacterial skin infections, Recurrent systemic pyogenic infections, Periodontitis, Recur... OMIM:214500
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acral ulceration OMIM:256810
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Episcleritis, Recurrent respiratory infections, Eczema, Keratitis, Cheilitis, Uveitis, Recurrent ... ORPHA:2273
Atrial Septal Defect, Coronary Sinus Type
Recurrent bacterial infections, Pneumonia ORPHA:99104
Split Cord Malformation
Skin dimple, Penetrating foot ulcers ORPHA:573278
Sickle Cell Disease
Recurrent bacterial infections OMIM:603903
Atrial Septal Defect, Ostium Secundum Type
Recurrent bacterial infections, Pneumonia ORPHA:99103
Hereditary Sensory And Autonomic Neuropathy Type 4
Fasciitis, Osteomyelitis, Recurrent Staphylococcus aureus infections, Septic arthritis, Recurrent... ORPHA:642

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 Clic4

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 Clic4.

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

Title Journal IMPC Allele PubMed ID
CLIC4 Regulates Endothelial Barrier Control by Mediating PAR1 Signaling via RhoA. Arteriosclerosis, thrombosis, and vascular biology (June 2023) Clic4tm1c(EUCOMM)Hmgu Clic4tm1a(EUCOMM)Hmgu 37317855

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
Clic4tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Clic4tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Clic4tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Clic4tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter