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Gene: Clic4 MGI:1352754

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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 (mitochondrial)
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
Epidermoid Cysts
Epidermoid cyst OMIM:131600
Nevus Anemicus
Nevus, Nevus anemicus OMIM:163050
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
Hypermelanotic macule, Hypopigmented macule OMIM:615402
Non-Epidermolytic Palmoplantar Keratoderma
Erythema, Papule, Skin ulcer ORPHA:2337
Laryngoonychocutaneous Syndrome
Skin ulcer OMIM:245660
Chilblain Lupus 1
Skin ulcer OMIM:610448
Dermatofibrosarcoma Protuberans
Subcutaneous nodule, Erythema, Skin ulcer ORPHA:31112
Agammaglobulinemia 2, Autosomal Recessive
Recurrent bacterial infections, Agammaglobulinemia, Meningitis, Recurrent pneumonia, Recurrent re... OMIM:613500
Agammaglobulinemia 3, Autosomal Recessive
Recurrent bacterial infections, Agammaglobulinemia, Recurrent bronchitis, Failure to thrive, Recu... OMIM:613501
Mannose-Binding Lectin Deficiency
Recurrent herpes, Failure to thrive, Disseminated cryptosporidium infection, Recurrent skin infec... OMIM:614372
Aplasia Cutis Congenita Of Limbs, Autosomal Recessive
Aplasia cutis congenita, Congenital absence of skin of limbs OMIM:600360
Immunodeficiency 61
Recurrent bacterial infections, Agammaglobulinemia, Recurrent otitis media, Arthritis, Obesity, R... OMIM:300310
Hyperkeratosis Lenticularis Perstans
Papule, Skin ulcer, Aplasia/Hypoplasia of the skin ORPHA:409
Immunodeficiency, Common Variable, 5
Recurrent bacterial infections, Chronic decreased circulating total IgG, Recurrent respiratory 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
Necrobiosis Lipoidica
Inflammatory abnormality of the skin, Skin nodule, Annular cutaneous lesion, Skin ulcer, Erythema... ORPHA:542592
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Severe toxoplasmosis, Coccidioidomycosis, Pneumonia, BCGosis, Lymphadenitis, Salmonella osteomyel... ORPHA:319552
Agammaglobulinemia 6, Autosomal Recessive
Recurrent bacterial infections, Agammaglobulinemia, Recurrent bronchitis, Chronic sinusitis, Recu... OMIM:612692
Immunodeficiency 51
Eczema, Folliculitis, Pustule, Chronic furunculosis, Pneumonia, Recurrent bronchitis, Chronic ora... OMIM:613953
Retinitis Pigmentosa 81
Pallor OMIM:617871
Immunodeficiency, Common Variable, 4
Recurrent bacterial infections, Decreased circulating IgG level, Recurrent pneumonia, Decreased c... OMIM:613494
Agammaglobulinemia 4, Autosomal Recessive
Recurrent bacterial infections, Agammaglobulinemia, Chronic sinusitis, Recurrent otitis media, Re... OMIM:613502
Aplasia Cutis Congenita
Aplasia cutis congenita over the scalp vertex, Congenital localized absence of skin, Skin ulcer ORPHA:1114
Chilblain Lupus
Inflammatory abnormality of the skin, Pruritis on hand, Erythematous papule, Discoid lupus rash, ... ORPHA:90280
Immunodeficiency 35
Recurrent fungal infections, Recurrent viral infections, Increased circulating IgE level, Recurre... OMIM:611521
Juvenile Hyaline Fibromatosis
Subcutaneous nodule, Papule, Skin ulcer, Aplasia/Hypoplasia of the skin ORPHA:2028
Agammaglobulinemia 1, Autosomal Recessive
Sinusitis, Recurrent bacterial infections, Agammaglobulinemia, Pneumonia, Bronchiectasis, Failure... OMIM:601495
Dracunculiasis
Recurrent cutaneous abscess formation, Pruritus, Skin rash, Subcutaneous nodule, Skin ulcer ORPHA:231
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Failure to thrive, Recurrent respiratory infections, Recurrent otitis media, Recurrent bacterial ... OMIM:616022
Immunodeficiency With Hyper-Igm, Type 2
Recurrent infection of the gastrointestinal tract, Recurrent bacterial infections, Decreased circ... OMIM:605258
Immunodeficiency, Common Variable, 3
Recurrent bacterial infections, Reduced isohemagglutinin level, Decreased circulating IgA level, ... OMIM:613493
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Skin ulcer, Purpura, Thin skin, Aplasia/Hypoplasia of the skin ORPHA:743
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent bacterial infections, Recurrent opportunistic infections, Decreased circulating IgA lev... ORPHA:275
Familial Keratoacanthoma
Subcutaneous nodule, Papule, Skin ulcer ORPHA:493
Classic Mycosis Fungoides
Hypopigmented skin patches, Skin plaque, Eczema, Pruritus, Erythema, Skin rash, Dry skin, Skin ulcer ORPHA:2584
Complement Component 7 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:610102
Immunodeficiency With Hyper-Igm, Type 5
Recurrent bacterial infections, Decreased circulating IgA level, Decreased circulating IgG level,... OMIM:608106
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent viral infections, Recurrent protozoan infections OMIM:308220
Buerger Disease
Skin ulcer ORPHA:36258
Pruritic Urticarial Papules And Plaques Of Pregnancy
Striae distensae OMIM:178995
Striae Distensae, Familial
Striae distensae OMIM:185200
Aplasia Cutis-Myopia Syndrome
Aplasia cutis congenita, Skin ulcer ORPHA:1117
Bare Lymphocyte Syndrome, Type Ii
Recurrent bacterial infections, Cholangitis, Agammaglobulinemia, Infectious encephalitis, Recurre... OMIM:209920
Immunodeficiency 34
Recurrent mycobacterial infections, Severe recurrent varicella OMIM:300645
Acrogeria
Excessive wrinkled skin, Skin ulcer, Thin skin, Aplasia/Hypoplasia of the skin ORPHA:2500
Immunodeficiency 30
Recurrent infections, Recurrent mycobacterial infections OMIM:614891
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome
Skin ulcer ORPHA:2218
Complement Component 8 Deficiency, Type Ii
Meningitis, Recurrent Neisserial infections OMIM:613789
Congenital Factor Xii Deficiency
Penetrating foot ulcers ORPHA:330
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent staphylococcal infections, Recurrent streptococcus pneu... ORPHA:70592
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Skin ulcer, Acral ulceration ORPHA:139578
Acute Lung Injury
Sepsis, Abnormality of serum cytokine level, Increased circulating surfactant protein level, Incr... ORPHA:178320
Immune Deficiency Disease
Recurrent bacterial infections, Cholangitis, Recurrent viral infections, Fulminant hepatitis, Dec... OMIM:242850
Lichen Planopilaris
Hypopigmented skin patches, Papule, Skin ulcer, Dermal atrophy ORPHA:525
Pyoderma Gangrenosum
Pustule, Atrophic scars, Increased circulating antibody level, Papule, Skin ulcer, Skin vesicle ORPHA:48104
Whim Syndrome 1
Recurrent bacterial infections, Bronchiectasis, Decreased circulating IgG level, Decreased circul... OMIM:193670
Immunodeficiency By Defective Expression Of Mhc Class Ii
Sinusitis, Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Rec... ORPHA:572
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Ficolin 3 Deficiency
Recurrent abscess formation, Necrotizing enterocolitis, Recurrent Staphylococcus aureus infection... OMIM:613860
Myelolymphatic Insufficiency
Recurrent bacterial infections, Recurrent viral infections OMIM:310350
Immunodeficiency, Common Variable, 12, With Autoimmunity
Pyoderma gangrenosum, Recurrent skin infections, Decreased circulating antibody level OMIM:616576
Immunodeficiency, Common Variable, 2
Recurrent bacterial infections, Bronchiectasis, Decreased circulating IgA level, Recurrent bronch... OMIM:240500
Immunodeficiency 33
Increased circulating IgA level, Disseminated nontuberculous mycobacterial infection, Recurrent b... OMIM:300636
Immunodeficiency, Common Variable, 1
Recurrent bacterial infections, Pneumonia, Bronchiectasis, Decreased circulating IgA level, Recur... OMIM:607594
Immunodeficiency 12
Recurrent bacterial infections, Recurrent viral infections OMIM:615468
Reticular Dysgenesis
Decreased circulating antibody level, Skin ulcer, Skin rash ORPHA:33355
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent bacterial infections, Sepsis, Recurrent opportunistic infections, Pneumonia, Recurrent ... ORPHA:276
Immunodeficiency With Hyper-Igm, Type 3
Recurrent bacterial infections, Decreased circulating IgA level, Decreased circulating IgG level,... OMIM:606843
Combined Immunodeficiency Due To Dock8 Deficiency
Atopic dermatitis, Increased circulating IgE level, Recurrent bacterial skin infections, Skin ulcer ORPHA:217390
Ichthyosis, Congenital, Autosomal Recessive 12
White scaling skin OMIM:617320
Peeling Skin Syndrome 3
White scaling skin OMIM:616265
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Recurrent bacterial infections, Recurrent fungal infections, Recurrent viral infections OMIM:614868
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Cholangitis, Sepsis, Decreased specific pneumococcal antibody level, Recurrent herpes, Recurrent ... ORPHA:183675
Adult Acute Respiratory Distress Syndrome
Sepsis, Increased circulating interleukin 6, Pneumonia, Pancreatitis, Abnormal serum interleukin ... ORPHA:70578
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Acne, Pustule, Skin ulcer, Increased circulating antibody level ORPHA:69126
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Erythematous papule, Skin ulcer, Erythematous plaque ORPHA:86884
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections OMIM:616126
Brooke-Spiegler Syndrome
Skin-colored papule, Skin ulcer, Skin nodule, Nodular changes affecting the eyelids ORPHA:79493
Cd8 Deficiency, Familial
Recurrent bacterial infections, Recurrent viral infections, Recurrent respiratory infections, Bro... OMIM:608957
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Atopic dermatitis, Recurrent bacterial infections, Eczema, Recurrent fungal infections, Recurrent... OMIM:243700
Cernunnos-Xlf Deficiency
Recurrent bacterial infections, Recurrent viral infections, Decreased circulating antibody level ORPHA:169079
Peeling Skin Syndrome 2
Scaling skin, Erythema OMIM:609796
Limited Cutaneous Systemic Sclerosis
Hypopigmented skin patches, Skin ulcer ORPHA:220402
Immunodeficiency, Common Variable, 6
Recurrent bacterial infections, Decreased specific pneumococcal antibody level, Glomerulonephriti... OMIM:613496
Thymic Aplasia
Sinusitis, Sepsis, Chronic otitis media, Recurrent infections, Recurrent candida infections, Hypo... ORPHA:83471
Dermatoosteolysis, Kirghizian Type
Skin ulcer OMIM:221810
Macrophage Activation Syndrome
Increased circulating interleukin 6, Hepatitis, Increased inflammatory response, Increased circul... ORPHA:158061
Selective Igm Deficiency
Sepsis, Non-infectious meningitis, Severe varicella zoster infection, Recurrent herpes, Fasciitis... ORPHA:331235
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Enteroviral hepatitis, Recurrent bacterial infections, Infectious encephalitis, Pyoder... OMIM:307200
Adult Idiopathic Neutropenia
Recurrent bacterial infections, Helicobacter pylori infection, Recurrent fungal infections, Recur... ORPHA:2688
Familial Multiple Nevi Flammei
Nevus flammeus, Hypermelanotic macule, Papule, Skin ulcer ORPHA:624
Immunodeficiency, Common Variable, 13
Recurrent bacterial infections, Decreased circulating antibody level OMIM:616873
Immunodeficiency 31B
Herpes simplex encephalitis, Recurrent viral infections, Recurrent mycobacterial infections OMIM:613796
Ollier Disease
Subcutaneous nodule, Skin ulcer ORPHA:296
Vulvovaginal Gingival Syndrome
Abnormality of tumor necrosis factor secretion ORPHA:83453
Autosomal Dominant Epidermolytic Ichthyosis
Erythroderma, Skin ulcer ORPHA:312
Infection-Related Hemolytic Uremic Syndrome
Hyperkalemia, Hyponatremia, Myocarditis, Increased circulating interleukin 6, Brain abscess, Pneu... ORPHA:544482
Leishmaniasis
Skin plaque, Increased circulating antibody level, Papule, Pallor, Skin ulcer ORPHA:507
Bare Lymphocyte Syndrome, Type I
Skin ulcer OMIM:604571
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Eczematoid dermatitis, Recurrent sinopulmonary infections, Recurrent fungal infections, Chronic m... OMIM:147060
Immunodeficiency 84
Recurrent bacterial infections, Perianal abscess, Persistent EBV viremia OMIM:619437
Central Retinal Vein Occlusion
Intraretinal hemorrhage, Macular edema, Macular degeneration, Papilledema, Retinal neovasculariza... ORPHA:411527
Exudative Vitreoretinopathy 2, X-Linked
Subretinal exudate, Exudative vitreoretinopathy, Retinal hole, Peripheral vitreous opacities, Ret... OMIM:305390
Complement Factor B Deficiency
Recurrent bacterial infections, Pneumonia, Peritonitis, Meningitis, Recurrent meningococcal disease OMIM:615561
Polyarteritis Nodosa
Subcutaneous nodule, Skin ulcer, Erythema ORPHA:767
Familial Exudative Vitreoretinopathy
Rhegmatogenous retinal detachment, Tractional retinal detachment, Vitreous floaters, Vitreoretino... ORPHA:891
Isolated Agammaglobulinemia
Skin ulcer, Skin rash, Recurrent cutaneous abscess formation ORPHA:229717
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections OMIM:300299
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pyoderma gangrenosum, Cystic acne, Acne OMIM:604416
Familial Hemophagocytic Lymphohistiocytosis
Abnormality of serum cytokine level, Increased circulating interleukin 6, Erythroderma, Infectiou... ORPHA:540
Autosomal Dominant Hyper-Ige Syndrome
Eczema, Pruritus, Increased circulating IgE level, Papule, Skin rash, Skin ulcer, Skin vesicle ORPHA:2314
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Recurrent bacterial infections, Increased circulating antibody level OMIM:202700
X-Linked Agammaglobulinemia
Hypopigmented skin patches, Agammaglobulinemia, Recurrent cutaneous abscess formation, Skin rash,... ORPHA:47
Calciphylaxis
Abnormality of skin physiology, Skin ulcer ORPHA:280062
Immunodeficiency With Hyper-Igm, Type 1
Recurrent bacterial infections, Sepsis, Stomatitis, Decreased circulating IgA level, Failure to t... OMIM:308230
Immunodeficiency With Hyper-Igm, Type 4
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Bronchiectasis... OMIM:608184
Sweet Syndrome
Increased circulating interleukin 6, Inflammation of the large intestine, Predominantly dermal ne... ORPHA:3243
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent bacterial infections, Membranoproliferative glomerulonephritis OMIM:613779
Immunodeficiency 36
Recurrent bacterial infections, Recurrent respiratory infections, Decreased circulating antibody ... OMIM:616005
Prolidase Deficiency
Eczema, Petechiae, Increased circulating antibody level, Crusting erythematous dermatitis, Skin u... OMIM:170100
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Recurrent oppo... ORPHA:911
Prolidase Deficiency
Pruritus, Erythema, Thin skin, Papule, Aplasia/Hypoplasia of the skin, Dry skin, Crusting erythem... ORPHA:742
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Recurrent bacterial infections, Decreased circulating IgA level, Lymphadenitis, Decreased circula... ORPHA:331206
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Recurrent bacterial infections, Psoriasiform dermatitis, Eczema, Failure to thrive in infancy, Er... OMIM:606367
Acquired Purpura Fulminans
Macule, Macular purpura, Pyoderma gangrenosum, Erythematous macule, Skin rash ORPHA:49566
Eales Disease
Rhegmatogenous retinal detachment, Optic disc pallor, Tractional retinal detachment, Vitreous flo... ORPHA:40923
Beta-Thalassemia
Pallor, Skin ulcer ORPHA:848
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Recurrent Haemophilus influenzae infections, Otitis media, Chronic sinusitis, Recurrent bronchitis OMIM:300455
Flynn-Aird Syndrome
Skin ulcer, Dermal atrophy ORPHA:2047
Attenuated Chédiak-Higashi Syndrome
Skin ulcer ORPHA:352723
Chronic Mucocutaneous Candidiasis
Pruritus, Erythema, Dyspareunia, Papule, Skin rash, Skin ulcer ORPHA:1334
Meige Disease
Skin erosion, Atypical scarring of skin, Recurrent bacterial skin infections, Recurrent skin infe... ORPHA:90186
Hereditary Sensory And Autonomic Neuropathy Type 1
Penetrating foot ulcers, Skin ulcer ORPHA:36386
Omenn Syndrome
Recurrent bacterial infections, Hypoproteinemia, Erythroderma, Pneumonia, Failure to thrive, Recu... OMIM:603554
Immunodeficiency 67
Increased circulating IgE level, Recurrent staphylococcal infections, Recurrent streptococcal inf... OMIM:607676
Dermatoosteolysis, Kirghizian Type
Skin ulcer, Aplasia/Hypoplasia of the skin ORPHA:1657
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal exudate, Retinal neovas... OMIM:133780
Griscelli Syndrome, Type 2
Recurrent bacterial infections OMIM:607624
Vitreoretinopathy, Neovascular Inflammatory
Vitreoretinopathy, Large hyperpigmented retinal spots, Peripheral retinal neovascularization, Ret... OMIM:193235
Neuropathy, Hereditary Sensory And Autonomic, Type Ic
Skin ulcer OMIM:613640
Adult Polyglucosan Body Disease
Skin ulcer ORPHA:206583
Malakoplakia
Inflammatory abnormality of the skin, Pruritus, Abnormality of the menstrual cycle, Papule, Skin ... ORPHA:556
Takayasu Arteritis
Subcutaneous nodule, Skin ulcer ORPHA:3287
Purine Nucleoside Phosphorylase Deficiency
Sinusitis, Hypouricemia, Recurrent bacterial infections, Recurrent opportunistic infections, Pneu... OMIM:613179
Postinfectious Vasculitis
Severe varicella zoster infection, Recurrent candida infections, Elevated circulating C-reactive ... ORPHA:48435
Squamous Cell Carcinoma Of The Anal Canal
Skin ulcer ORPHA:424019
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections OMIM:233670
Neutrophilic Dermatosis, Acute Febrile
Pyoderma gangrenosum, Cystic acne, Erythema, Acne inversa OMIM:608068
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Skin fissure, Skin ulcer, Erythema ORPHA:659
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
Infantile Myofibromatosis
Subcutaneous nodule, Skin ulcer ORPHA:2591
Ectodermal Dysplasia And Immunodeficiency 1
Recurrent bacterial infections, Increased circulating IgA level, Severe cytomegalovirus infection... OMIM:300291
Reynolds Syndrome
Pruritus, Skin ulcer, Skin rash ORPHA:779
Pgm3-Cdg
Sepsis, Eczema, Chronic otitis media, Recurrent infections, Recurrent respiratory infections, All... ORPHA:443811
Immunodeficiency 27B
Salmonella osteomyelitis, Recurrent mycobacterial infections, Osteomyelitis OMIM:615978
Cryoglobulinemic Vasculitis
Purpura, Skin ulcer, Petechiae ORPHA:91138
Immunodeficiency 23
Eczema, Allergic rhinitis, Severe varicella zoster infection, Bronchiectasis, Failure to thrive, ... OMIM:615816
Specific Granule Deficiency 2
Recurrent bacterial infections, Sepsis, Failure to thrive, Recurrent otitis media, Recurrent pneu... OMIM:617475
Chronic Granulomatous Disease
Eczema, Hypermelanotic macule, Macule, Skin ulcer ORPHA:379
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Pyoderma gangrenosum, Chronic oral candidiasis OMIM:150550
Livedoid Vasculopathy
Ecchymosis, Superficial dermal perivascular inflammatory infiltrate, Macular purpura, Erythematou... ORPHA:542643
Complement Factor I Deficiency
Sinusitis, Recurrent otitis media, Pyelonephritis, Arthritis, Recurrent urinary tract infections,... OMIM:610984
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Sinusitis, Recurrent bacterial infections, Pneumonia, Decreased circulating IgA level, Failure to... OMIM:102700
Specific Granule Deficiency 1
Recurrent bacterial infections OMIM:245480
Charcot-Marie-Tooth Disease, Guadalajara Neuronal Type
Penetrating foot ulcers OMIM:118230
Combined Immunodeficiency Due To Crac Channel Dysfunction
Recurrent bacterial infections, Sepsis, Pneumonia, Chronic otitis media, Recurrent fungal infecti... ORPHA:169090
Autosomal Dominant Severe Congenital Neutropenia
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Pneumonia, Rec... ORPHA:486
Adult Syndrome
Dry skin, Skin ulcer, Thin skin, Melanocytic nevus ORPHA:978
Free Sialic Acid Storage Disease
Skin ulcer ORPHA:834
Retinal Venous Beading
Abnormal distribution of retinal arterioles and venules, Retinal neovascularization, Vitreous hem... OMIM:180080
Microscopic Polyangiitis
Subcutaneous nodule, Skin ulcer, Skin rash, Erythema ORPHA:727
Psoriasis-Related Juvenile Idiopathic Arthritis
Psoriasiform dermatitis, Oligoarthritis, Sacroiliac arthritis, Anterior uveitis, Iridocyclitis, U... ORPHA:85436
Vitreoretinochoroidopathy
Abnormality of chorioretinal pigmentation, Retinal detachment, Retinal neovascularization, Vitreo... OMIM:193220
Werner Syndrome
Secondary amenorrhea, Spontaneous abortion, Hypogonadism, Lack of skin elasticity, Aplasia/Hypopl... ORPHA:902
Idiopathic Bronchiectasis
Cachexia, Bronchiectasis, Recurrent lower respiratory tract infections, Recurrent Haemophilus inf... ORPHA:60033
Acrodermatitis Enteropathica
Dry skin, Erythema, Pustule, Skin ulcer ORPHA:37
Immunoglobulin A Vasculitis
Macule, Pustule, Erythema, Purpura, Skin rash, Orchitis, Skin ulcer ORPHA:761
Whim Syndrome
Sinusitis, Sepsis, Recurrent bacterial infections, Pneumonia, Bronchiectasis, Lymphadenitis, Decr... ORPHA:51636
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Eczematoid dermatitis, Recurrent E. coli infections, Lymphadenitis, Discoid lupus rash, Osteomyel... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Eczematoid dermatitis, Recurrent E. coli infections, Lymphadenitis, Discoid lupus rash, Osteomyel... OMIM:233710
Hereditary Spherocytosis
Pallor, Skin ulcer, Maculopapular exanthema ORPHA:822
Vici Syndrome
Recurrent bacterial infections, Failure to thrive, Recurrent fungal infections, Decreased circula... OMIM:242840
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism
Penetrating foot ulcers OMIM:118301
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Eczematoid dermatitis, Recurrent E. coli infections, Lymphadenitis, Discoid lupus rash, Osteomyel... OMIM:233690
Granulomatous Disease, Chronic, X-Linked
Eczematoid dermatitis, Recurrent E. coli infections, Lymphadenitis, Discoid lupus rash, Osteomyel... OMIM:306400
Diffuse Cutaneous Systemic Sclerosis
Skin ulcer, Dyspareunia ORPHA:220393
Car T Cell Therapy-Associated Cytokine Release Syndrome
Abnormality of serum cytokine level, Increased circulating interleukin 6, Elevated circulating cr... ORPHA:542323
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Eczema, Decreased circulating antibody level, Bone marrow hypocellularity, Purpura, Skin rash, Ur... OMIM:615688
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Recurrent bacterial infections, Psoriasiform dermatitis, Decreased circulating total IgA, Decreas... ORPHA:221139
Juvenile Dermatomyositis
Pruritus, Erythema, Skin rash, Dry skin, Skin ulcer ORPHA:93672
Infantile Systemic Hyalinosis
Subcutaneous nodule, Skin ulcer ORPHA:2176
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Recurrent bacterial infections OMIM:610738
Hereditary Acrokeratotic Poikiloderma
Hypopigmented skin patches, Eczema, Pustule, Erythema, Thin skin, Papule, Skin ulcer ORPHA:2907
Ectodermal Dysplasia-Blindness Syndrome
Skin ulcer ORPHA:1806
Fusariosis
Skin detachment, Papule, Maculopapular exanthema, Subcutaneous nodule, Skin ulcer ORPHA:228119
Leukocyte Adhesion Deficiency, Type I
Skin ulcer OMIM:116920
Beta-Thalassemia Intermedia
Hypogonadism, Pallor, Skin ulcer ORPHA:231222
Neuropathy, Hereditary Sensory And Autonomic, Type Iib
Acral ulceration OMIM:613115
Blau Syndrome
Eczema, Intermittent generalized erythematous papular rash, Skin ulcer, Erythema nodosum OMIM:186580
Catastrophic Antiphospholipid Syndrome
Spontaneous abortion, Skin ulcer ORPHA:464343
Cushing Disease
Ecchymosis, Secondary amenorrhea, Oligomenorrhea, Amenorrhea, Acne, Striae distensae, Thin skin, ... ORPHA:96253
Hypocomplementemic Urticarial Vasculitis
Recurrent bacterial infections, Episcleritis, Arthritis, Meningitis, Uveitis, Inflammatory abnorm... ORPHA:36412
Leukocyte Adhesion Deficiency, Type Iii
Recurrent bacterial infections, Sepsis, Recurrent skin infections OMIM:612840
Systemic Sclerosis
Digital ulcer, Spotty hypopigmentation, Pruritus, Cutaneous sclerotic plaque, Digital pitting sca... ORPHA:90291
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections ORPHA:86788
Amoebiasis Due To Free-Living Amoebae
Unusual skin infection, Pustule, Papule, Subcutaneous nodule, Skin ulcer ORPHA:68
Neuropathy, Hereditary Sensory And Autonomic, Type V
Acral ulceration OMIM:608654
Incontinentia Pigmenti
Hypopigmented skin patches, Erythema, Skin ulcer, Skin rash ORPHA:464
Dominant Beta-Thalassemia
Pallor, Skin ulcer ORPHA:231226
Immunodeficiency 10
Recurrent bacterial infections, Recurrent infections OMIM:612783
Giant Cell Arteritis
Skin ulcer ORPHA:397
Mirage Syndrome
Hyperkalemia, Hyponatremia, Sepsis, Recurrent bacterial infections, Recurrent urinary tract infec... OMIM:617053
Wiskott-Aldrich Syndrome
Eczema, Abnormal platelet function, Petechiae, Abnormality of the menstrual cycle, Purpura, Skin ... ORPHA:906
Immunodeficiency 47
Recurrent bacterial infections, Decreased circulating total IgA, Decreased circulating total IgG,... OMIM:300972
Dermatomyositis
Pruritus, Erythema, Papule, Aplasia/Hypoplasia of the skin, Dry skin, Skin ulcer ORPHA:221
Dyskeratosis Congenita
Hypopigmented skin patches, Macule, Skin ulcer, Bone marrow hypocellularity, Aplasia/Hypoplasia o... ORPHA:1775
Primary Sjögren Syndrome
Lichenoid skin lesion, Decreased circulating antibody level, Increased circulating antibody level... ORPHA:289390
Beta-Thalassemia Major
Pallor, Skin ulcer ORPHA:231214
Lysinuric Protein Intolerance
Tubulointerstitial nephritis, Decreased circulating antibody level, Hyperglycinemia, Hyperammonem... ORPHA:470
Immunodeficiency 21
Recurrent fungal infections, Recurrent viral infections, Recurrent mycobacterium avium complex in... OMIM:614172
Parkes Weber Syndrome
Scaling skin, Capillary malformation, Skin ulcer, Erythematous plaque ORPHA:90307
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Hypertension, Telangiectasia, Cardiomyopathy, Raynaud phenomenon, Macular edema, Abnormal retinal... ORPHA:247691
Toxic Epidermal Necrolysis
Erythema, Macule, Skin ulcer ORPHA:537
Angioosteohypertrophic Syndrome
Hyperpigmented nevi, Abnormality of the menstrual cycle, Skin ulcer, Melanocytic nevus ORPHA:2346
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Recurrent bacterial infections, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia OMIM:241410
Complement Component 5 Deficiency
Recurrent meningococcal disease, Generalized seborrheic dermatitis OMIM:609536
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Scaling skin, Dry skin, Subcutaneous nodule, Erysipelas, Skin ulcer ORPHA:2526
Granulomatosis With Polyangiitis
Prostatitis, Papule, Purpura, Skin rash, Skin ulcer ORPHA:900
Chédiak-Higashi Syndrome
Recurrent bacterial infections, Hypoproteinemia, Hyponatremia, Recurrent infections, Periodontiti... ORPHA:167
Kenny-Caffey Syndrome, Type 1
Hypomagnesemia, Recurrent bacterial infections, Hypocalcemia OMIM:244460
Leukocyte Adhesion Deficiency
Sinusitis, Sepsis, Recurrent aphthous stomatitis, Recurrent staphylococcal infections, Conjunctiv... ORPHA:2968
Leprosy
Verrucous papule, Skin nodule, Penetrating foot ulcers, Acral ulceration, Hypopigmented macule, U... ORPHA:548
Congenital Disorder Of Glycosylation, Type Iif
Recurrent bacterial infections OMIM:603585
Granulomatosis With Polyangiitis
Skin ulcer OMIM:608710
Mannosidosis, Alpha B, Lysosomal
Recurrent bacterial infections, Decreased circulating antibody level OMIM:248500
Adenocarcinoma Of The Anal Canal
Skin ulcer ORPHA:424016
Immunodeficiency 87 And Autoimmunity
Recurrent bacterial infections, Sepsis, Elevated circulating C-reactive protein concentration, Sm... OMIM:619573
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Failure to thrive, Sepsis, Recurrent respiratory infections, Recurrent bacterial infections OMIM:612541
Shwachman-Diamond Syndrome
Sinusitis, Sepsis, Eczema, Recurrent bacterial infections, Pneumonia, Failure to thrive, Hypoamyl... ORPHA:811
Hajdu-Cheney Syndrome
Dry skin, Skin ulcer ORPHA:955
Blau Syndrome
Erythema, Papule, Skin rash, Dry skin, Skin ulcer, Erythema nodosum ORPHA:90340
Parenteral Nutrition-Associated Cholestasis
Small for gestational age, Hyperlipidemia, Abnormal circulating fatty-acid concentration, Abnorma... ORPHA:567983
Charcot-Marie-Tooth Disease Type 4B2
Penetrating foot ulcers ORPHA:99956
Chime Syndrome
Erythema, Skin ulcer ORPHA:3474
Hermansky-Pudlak Syndrome 2
Recurrent bacterial infections, Chronic oral candidiasis, Recurrent otitis media, Periodontitis, ... OMIM:608233
Primary Ciliary Dyskinesia
Bronchiectasis, Chronic otitis media, Chronic rhinitis, Recurrent sinopulmonary infections, Chron... ORPHA:244
Cushing Syndrome Due To Ectopic Acth Secretion
Ecchymosis, Secondary amenorrhea, Oligomenorrhea, Amenorrhea, Acne, Striae distensae, Thin skin, ... ORPHA:99889
Chromomycosis
Keratoconjunctivitis sicca, Recurrent bacterial infections, Keratitis ORPHA:182
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Glycogen Storage Disease Ib
Recurrent bacterial infections, Hyperlipidemia, Gout, Pancreatitis, Hyperuricemia OMIM:232220
Oculocerebrorenal Syndrome Of Lowe
Atypical scarring of skin, Skin ulcer, Azoospermia ORPHA:534
Plague
Chapped lip, Skin ulcer, Skin rash, Dry skin, Localized skin lesion, Erythema nodosum ORPHA:707
Atypical Werner Syndrome
Secondary amenorrhea, Thin skin, Hypogonadism, Lack of skin elasticity, Premature ovarian insuffi... ORPHA:79474
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Recurrent bacterial infections, Inflammation of the large intestine, Hyperlipidemia, Failure to t... ORPHA:79259
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Ecchymosis, Skin ulcer, Azoospermia ORPHA:2072
Aregenerative Anemia
Abnormality of interleukin secretion ORPHA:101096
Chronic Graft Versus Host Disease
Intermittent generalized erythematous papular rash, Erythema, Skin ulcer, Skin vesicle ORPHA:99921
Chediak-Higashi Syndrome
Periodontitis, Recurrent bacterial skin infections, Recurrent infections, Recurrent systemic pyog... OMIM:214500
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Inflammatory abnormality of the skin, Atypical scarring of skin, Skin ulcer, Skin rash ORPHA:95455
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Recurrent bacterial infections, Eczema, Episcleritis, Cheilitis, Failure to thrive, Recurrent inf... ORPHA:2273
Sickle Cell Anemia
Recurrent bacterial infections OMIM:603903
Atrial Septal Defect, Coronary Sinus Type
Recurrent bacterial infections, Pneumonia ORPHA:99104
Atrial Septal Defect, Ostium Secundum Type
Recurrent bacterial infections, Pneumonia ORPHA:99103
Split Cord Malformation
Penetrating foot ulcers, Skin dimple ORPHA:573278
Hereditary Sensory And Autonomic Neuropathy Type 4
Recurrent aspiration pneumonia, Fasciitis, Septic arthritis, Osteomyelitis, Recurrent Staphylococ... 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.

No publications found that use IMPC mice or data for Clic4.

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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

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