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Gene: Kprp MGI:1920981

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Gene Summary

Name:
keratinocyte expressed, proline-rich
Synonyms:
1110001M24Rik

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Kprp 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 Kprp by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Palmoplantar Keratoderma, Epidermolytic, 1
Plantar hyperkeratosis, Increased circulating IgE level, Palmoplantar hyperkeratosis, Palmar hype... OMIM:144200
Palmoplantar Keratoderma, Norrbotten Recessive Type
Hyperkeratosis, Palmoplantar keratoderma, Recurrent cutaneous fungal infections OMIM:244850
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Increased circulating interleukin 6 concentration, Recurrent skin infections, Increased circulati... OMIM:618944
Ichthyosis, Lamellar, Autosomal Dominant
Pruritus, Hyperkeratosis OMIM:146750
Verrucous Hemangioma
Inflammatory abnormality of the skin, Hyperkeratotic papule ORPHA:464318
Congenital Panfollicular Nevus
Pruritus, Hyperkeratosis ORPHA:139414
Dystrophic Epidermolysis Bullosa Pruriginosa
Pruritus, Hyperkeratosis, Increased circulating IgE level ORPHA:89843
Ige Responsiveness, Atopic
Allergic rhinitis, Increased circulating IgE level, Eczema OMIM:147050
Acne Inversa, Familial, 3
Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis, Acne inversa OMIM:613737
Deafness, Neural, With Atypical Atopic Dermatitis
Late onset atopic dermatitis, Increased circulating IgE level OMIM:221700
Porokeratosis Of Mibelli
Pruritus, Hyperkeratosis ORPHA:735
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Recurrent cutaneous abscess formation, Perifolliculitis, Chronic furunculosis, Follicular hyperke... OMIM:613736
Immunodeficiency 51
Recurrent skin infections, Eczema, Pneumonia, Abnormal lymphocyte physiology, Pustule, Chronic mu... OMIM:613953
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Increased circulating IgE level, Atopic dermatitis, Bronchiectasis, Ulcerative colitis... OMIM:617638
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type
Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis ORPHA:86923
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1
Perioral hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis OMIM:613000
Epidermolysis Bullosa Simplex 1C, Localized
Hyperkeratosis OMIM:131800
Familial Reactive Perforating Collagenosis
Perifolliculitis, Inflammatory abnormality of the skin, Maculopapular exanthema, Pruritus, Crusti... ORPHA:79147
Ichthyosis Hystrix, Lambert Type
Hyperkeratosis, Orthokeratotic hyperkeratosis OMIM:146600
Erythrokeratodermia Variabilis Et Progressiva 6
Pruritus, Parakeratosis, Superficial dermal perivascular inflammatory infiltrate OMIM:618531
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Increased circulating IgE level, Bronchiectasis, Increased circulati... OMIM:618982
Hypotrichosis Simplex Of The Scalp
Parakeratosis, Allergic rhinitis, Pruritus, Increased circulating IgE level, Atopic dermatitis, H... ORPHA:90368
Netherton Syndrome
Hypernatremic dehydration, Parakeratosis, Recurrent skin infections, Eczema, Allergic rhinitis, A... OMIM:256500
Epidermolytic Hyperkeratosis 2
Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato... OMIM:620150
Chilblain Lupus
Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Hyperkeratosis, Increased ci... ORPHA:90280
Palmoplantar Keratoderma-Deafness Syndrome
Hyperkeratosis, Palmoplantar keratoderma ORPHA:2202
Ichthyosis Hystrix Of Curth-Macklin
Hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Recurrent skin infections ORPHA:79503
Reticulate Acropigmentation Of Kitamura
Hyperkeratosis OMIM:615537
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Genital edema, Eczema, Abnormal immunoglobulin level, Increased circulating IgE level, Pedal edem... ORPHA:98813
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Osteomyelitis, Recurrent skin infections, Eczema, Pruritus, Increased circulating IgE level, Recu... OMIM:618282
Epidermolysis Bullosa Dystrophica, Pretibial
Pruritus, Hyperkeratosis OMIM:131850
Immunodeficiency 25
Increased circulating IgA level, Increased circulating IgE level, Recurrent pneumonia, Increased ... OMIM:610163
Aquagenic Palmoplantar Keratoderma
Edema, Atopic dermatitis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Palmar pruritus ORPHA:498359
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans OMIM:144150
Angioma Serpiginosum, Autosomal Dominant
Hyperkeratosis OMIM:106050
Papillomatosis, Confluent And Reticulated
Hyperkeratosis OMIM:167900
Erythrokeratodermia Variabilis Et Progressiva 5
Hyperkeratosis, Palmoplantar hyperkeratosis OMIM:617756
Palmoplantar Keratoderma, Punctate Type Iii
Hyperkeratosis OMIM:101850
Inflammatory Skin And Bowel Disease, Neonatal, 2
Polyhydramnios, Pustule, Increased circulating IgE level, Recurrent pneumonia, Dehydration OMIM:616069
Dermatoleukodystrophy
Hyperkeratosis ORPHA:1659
Severe Combined Immunodeficiency, X-Linked
Skin rash, Pneumonia, Reduced natural killer cell activity, Recurrent pneumonia, Agammaglobulinem... OMIM:300400
Ichthyosis, Congenital, Autosomal Recessive 13
Hyperkeratosis, Palmoplantar hyperkeratosis OMIM:617574
Linear Atrophoderma Of Moulin
Pruritus, Inflammatory abnormality of the skin ORPHA:140933
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration of the esophagus, A... OMIM:615508
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Hyperkeratosis OMIM:615028
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Skin rash, Increased circulating IgE level, Recurrent pneumonia, Chronic mucocutaneous candidiasi... OMIM:147060
Acrokeratosis Verruciformis
Hyperkeratosis, Punctate palmoplantar hyperkeratosis OMIM:101900
Intellectual Developmental Disorder, Fra12A Type
Hyperkeratosis, Erythroderma OMIM:136630
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Inflammatory abnormality of the skin, Sinusitis, Increased circulating IgE level, Recurrent pneum... ORPHA:277
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Eczema, Increased circulating IgE level, Increased circulating IgM level, Reduced antigen-specifi... OMIM:617241
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Recurrent skin infections, Increased circulating IgE level, Recurrent pneumonia, Atopic dermatiti... OMIM:619752
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... OMIM:606843
Ulerythema Ophryogenesis
Hyperkeratotic papule, Acne, Contact dermatitis, Follicular hyperkeratosis ORPHA:3406
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Eczema, Eosinophilic infiltration of the esophagus, Increased circulating IgE level, Recurrent pn... OMIM:243700
Immunodeficiency, Common Variable, 11
Inflammation of the large intestine, Decreased circulating IgG level, Crohn's disease, Increased ... OMIM:615767
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level, Eczema, Thyroiditis OMIM:618985
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Eczema, Keratitis, Increased circulating IgE level, Bronchiectasis, Recurrent otitis media OMIM:618523
Immunodeficiency 103, Susceptibility To Fungal Infections
Deep dermatophytosis, Increased circulating IgE level, Chronic oral candidiasis OMIM:212050
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent bacterial skin infections, Pneumonia, Increased circulating IgE level, Atopic dermatiti... ORPHA:217390
Ichthyosis, Congenital, Autosomal Recessive 10
Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Erythroderma OMIM:615024
Benign Cephalic Histiocytosis
Inflammatory abnormality of the skin, Skin rash ORPHA:157997
Ichthyosis, Congenital, Autosomal Recessive 14
Pruritus, Hyperkeratosis, Orthokeratotic hyperkeratosis OMIM:617571
Mal De Meleda
Inflammatory abnormality of the skin, Nonepidermolytic palmoplantar hyperkeratosis, Superficial d... ORPHA:87503
Erythrokeratodermia Variabilis Et Progressiva 1
Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Erythroderma OMIM:133200
Kerion Celsi
Recurrent cutaneous abscess formation, Inflammatory abnormality of the skin, Recurrent skin infec... ORPHA:499
Pityriasis Rubra Pilaris
Subungual hyperkeratosis, Eczema, Pruritus, Pustule, Palmoplantar keratoderma, Erythroderma ORPHA:2897
Peeling Skin Syndrome 1
Pruritus, Increased circulating IgE level, Erythroderma OMIM:270300
Iga Pemphigus
Neutrophilic infiltration of the skin, Monoclonal elevation of circulating IgA, Acantholysis, Pru... ORPHA:555905
Inflammatory Skin And Bowel Disease, Neonatal, 1
Pustule, Increased circulating IgE level, Blepharitis, Erythroderma OMIM:614328
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... OMIM:619632
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Acquired Ichthyosis
Pruritus, Hyperkeratosis, Palmoplantar keratoderma, Recurrent skin infections ORPHA:454
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Elastosis Perforans Serpiginosa
Hyperkeratotic papule, Crusting erythematous dermatitis ORPHA:79148
Seborrhea-Like Dermatitis With Psoriasiform Elements
Hyperkeratosis, Seborrheic dermatitis OMIM:610227
Peeling Skin Syndrome 6
Orthokeratosis, Parakeratosis, Atopic dermatitis, Pruritus OMIM:618084
Netherton Syndrome
Skin rash, Eczema, Increased circulating IgE level, Dehydration, Decreased circulating antibody l... ORPHA:634
Psoriasis 2
Hyperkeratosis, Parakeratosis, Psoriasiform dermatitis OMIM:602723
Erythrokeratodermia Variabilis Et Progressiva 4
Hyperkeratosis, Palmoplantar hyperkeratosis OMIM:617526
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Epididymitis, Increased circulating IgM level, Decreased ... OMIM:608106
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Increased circulating IgA level, Increased circulating IgE level, Increased circulating IgG level... ORPHA:169154
Olmsted Syndrome, X-Linked
Subungual hyperkeratosis, Parakeratosis, Posterior blepharitis, Palmoplantar hyperkeratosis, Hype... OMIM:300918
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Chronic oral candidiasis, Psoriasiform dermatitis, Decreased lymphocyte proliferation in response... OMIM:606367
Immunodeficiency With Hyper-Igm, Type 1
Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circulating IgA level, Im... OMIM:308230
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Histiocytosis, Familial Lipochrome
Increased circulating antibody level OMIM:235900
Olmsted Syndrome 2
Parakeratosis, Pruritus, Perioral hyperkeratosis, Cheilitis, Palmoplantar hyperkeratosis, Hyperke... OMIM:619208
Immunodeficiency 85 And Autoimmunity
Eczema, Oligoarthritis, Decreased circulating total IgM, Decreased circulating IgE, Erythroderma,... OMIM:619510
Ichthyosis, Hystrix-Like, With Deafness
Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato... OMIM:602540
Kimura Disease
Increased circulating IgE level ORPHA:482
Infantile Digital Fibromatosis
Hyperkeratosis, Parakeratosis ORPHA:199267
Vohwinkel Syndrome, Variant Form
Orthokeratosis, Hyperkeratosis, Parakeratosis, Honeycomb palmoplantar hyperkeratosis OMIM:604117
Agammaglobulinemia 8B, Autosomal Recessive
Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating I... OMIM:619824
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig... OMIM:605258
Lymphatic Malformation 4
Hyperkeratosis, Pedal edema, Lymphedema OMIM:615907
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Pruritic Urticarial Papules And Plaques Of Pregnancy
Parakeratosis, Pruritus, Pruritis on abdomen, Pruritus on foot, Pruritis on hand, Pruritis on bre... ORPHA:64745
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Glomerulonephritis, Eczema, Increased circulating IgE level, Hepatitis, Arthritis, Erythroderma OMIM:304790
Pgm3-Cdg
Membranoproliferative glomerulonephritis, Recurrent skin infections, Eczema, Allergic rhinitis, I... ORPHA:443811
Neutropenia, Chronic Familial
Increased circulating antibody level, Periodontitis OMIM:162700
Immunodeficiency 23
Membranoproliferative glomerulonephritis, Eczema, Allergic rhinitis, Increased circulating IgE le... OMIM:615816
Igg4-Related Aortitis
Increased inflammatory response, Increased circulating IgG4 level, Increased circulating IgE leve... ORPHA:449400
Autosomal Dominant Epidermolytic Ichthyosis
Hyperkeratosis, Palmoplantar keratoderma, Erythroderma ORPHA:312
Immunodeficiency 66
Pustule, Defective T cell proliferation, Recurrent skin infections OMIM:618847
Angioma Serpiginosum, X-Linked
Hyperkeratosis OMIM:300652
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Absent specific antibody response, Inflammatory abnormality of the skin, Sinusitis, Skin rash, Pn... OMIM:102700
Autosomal Dominant Hyper-Ige Syndrome
Osteomyelitis, Skin rash, Eczema, Pruritus, Increased circulating IgE level, Chronic otitis media ORPHA:2314
Immunodeficiency 60 And Autoimmunity
Bronchiectasis, Ulcerative colitis, Decreased circulating total IgM, Colitis, Decreased circulati... OMIM:618394
Ichthyosis, Congenital, Autosomal Recessive 7
Palmoplantar keratoderma, Erythroderma OMIM:615022
Lichen Planus Pemphigoides
Pruritus, Hyperkeratosis, Conjunctivitis, Blepharitis ORPHA:254478
Aspergillosis
Sinusitis, Osteomyelitis, Pneumonia, Keratitis, Increased circulating IgE level, Bronchiectasis, ... ORPHA:1163
Idiopathic Chronic Eosinophilic Pneumonia
Pleural effusion, Increased circulating IgE level, Atopic dermatitis ORPHA:2902
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Inflammatory abnormality of the skin, Psoriasiform dermatitis, Recurrent skin infections, Eczema,... ORPHA:37042
Papa Syndrome
Increased inflammatory response, Myositis, Acne, Pustule, Arthritis, Increased circulating antibo... ORPHA:69126
Ichthyosis Prematurity Syndrome
Allergic rhinitis, Polyhydramnios, Pruritus, Follicular hyperkeratosis, Erythroderma OMIM:608649
Peeling Skin Syndrome 5
Hyperkeratosis OMIM:617115
Erythema Elevatum Diutinum
Skin rash, Increased circulating antibody level ORPHA:90000
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Panhypogammaglobulinemia, Erythema nodosum OMIM:615214
Epidermolytic Hyperkeratosis 1
Palmoplantar hyperkeratosis, Erythroderma OMIM:113800
Panniculitis-Induced Localized Lipodystrophy
Inflammatory abnormality of the skin, Abnormal immunoglobulin level ORPHA:90159
Ichthyosis, Congenital, Autosomal Recessive 5
Orthokeratosis, Parakeratosis, Palmoplantar keratoderma, Erythroderma OMIM:604777
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Eczema, Reduced natural killer cell activity OMIM:614493
Meige Disease
Recurrent bacterial skin infections, Predominantly lower limb lymphedema, Recurrent skin infectio... ORPHA:90186
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Pneumonia, Recurrent pneumonia, Erythroderma, Hepatitis, Increased circulating antibody level, De... ORPHA:169160
Immunodeficiency 95
Decreased circulating IgG3 level, Increased circulating IgG3 level, Recurrent viral pneumonia OMIM:619773
Thrombocytopenia 1
Increased circulating IgE level, Eczema, Increased circulating IgA level OMIM:313900
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Glomerulonephritis, Increased circulating antibody level, Pneumonia OMIM:247800
Bazex Syndrome
Parakeratosis, Edema, Pruritus, Hyperkeratosis, Palmoplantar keratoderma ORPHA:166113
Immunodeficiency, Common Variable, 14
Psoriasiform dermatitis, Decreased circulating total IgM, Recurrent sinusitis, Decreased specific... OMIM:617765
Immunodeficiency 22
Pericarditis, Decreased circulating total IgM, Ascites, Panniculitis, Decreased circulating IgE, ... OMIM:615758
Ichthyosis, Congenital, Autosomal Recessive 6
Parakeratosis, Hyperkeratosis, Palmoplantar keratoderma, Erythroderma, Orthokeratosis OMIM:612281
Autoinflammation With Arthritis And Dyskeratosis
Increased circulating IgA level, Thyroiditis, Uveitis, Palmoplantar hyperkeratosis, Increased cir... OMIM:617388
Ichthyosis, Congenital, Autosomal Recessive 9
Orthokeratosis, Hyperkeratosis, Erythroderma OMIM:615023
Agammaglobulinemia, X-Linked
Enteroviral hepatitis, Prostatitis, Epididymitis, Recurrent pneumonia, Bronchiectasis, Agammaglob... OMIM:300755
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Increased circulating IgM level, Decreased circulating IgG2 level, Bronchiectasis, Decreased spec... OMIM:615513
Autoimmune Lymphoproliferative Syndrome
Gastritis, Glomerulonephritis, Increased circulating IgA level, Increased circulating IgE level, ... ORPHA:3261
Urban-Rogers-Meyer Syndrome
Increased circulating IgE level ORPHA:3409
Igg4-Related Submandibular Gland Disease
Cholangitis, Increased circulating IgG4 level, Facial edema, Periorbital edema, Increased circula... ORPHA:449432
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM OMIM:153600
Milroy Disease
Predominantly lower limb lymphedema, Lymphedema, Pedal edema, Hyperkeratosis, Erysipelas ORPHA:79452
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Predominantly dermal neutrophilic infiltrate, Parakeratosis, Superficial dermal perivascular infl... ORPHA:284426
Pityriasis Rubra Pilaris
Orthokeratosis, Subungual hyperkeratosis, Parakeratosis, Palmoplantar keratoderma OMIM:173200
Tularemia
Skin rash, Pneumonia, Erythema nodosum, Increased circulating antibody level, Conjunctivitis, Oti... ORPHA:3392
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Recurrent otitis media, Increased circulating IgG level, Increased circulating IgM level, Bronchi... OMIM:619220
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Keratitis, Folliculitis, Palmoplantar keratoderma, Conjunctivitis, Follicular hyperkeratosis, Ble... OMIM:308800
Pemphigus Foliaceus
Psoriasiform dermatitis, Acantholysis, Pruritus, Pustule, Crusting erythematous dermatitis, Eryth... ORPHA:79481
Igg4-Related Kidney Disease
Lymphadenitis, Pedal edema, Increased circulating IgG level, Tubulointerstitial nephritis, Cholec... ORPHA:449395
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Eosinophilic infiltration of the esophagus, Perianal abscess, Increased circulating IgE level, Pa... OMIM:618213
Lead Poisoning
Abnormality of humoral immunity, Tubulointerstitial nephritis, Increased circulating IgE level, S... ORPHA:330015
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM OMIM:236000
Tylosis With Esophageal Cancer
Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis OMIM:148500
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Orthokeratosis, Subungual hyperkeratosis, Eczema, Acne inversa OMIM:617337
Immunodeficiency 57 With Autoinflammation
Skin rash, Gastritis, Perianal abscess, Bronchiectasis, Decreased circulating antibody level, Inf... OMIM:618108
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Pruritus, Palmoplantar keratoderma, Blepharitis, Eczema OMIM:618535
Schnitzler Syndrome
Pruritus, Increased circulating IgM level, Skin rash, Arthritis ORPHA:37748
Superficial Epidermolytic Ichthyosis
Palmoplantar keratoderma, Edema, Acantholysis ORPHA:455
Subcorneal Pustular Dermatosis
Pruritus, Pustule, Increased circulating antibody level, Rheumatoid arthritis ORPHA:48377
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Lymp... OMIM:300291
Immunodeficiency 67
Increased circulating IgE level OMIM:607676
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Angular cheilitis, Acantholysis, Pruritus, Punctate palmoplantar hyperkeratosis, Cheilitis, Hyper... OMIM:616295
Psoriasis 14, Pustular
Parakeratosis, Psoriasiform dermatitis, Cholangitis, Pustule, Oligoarthritis OMIM:614204
Inflammatory Bowel Disease 28, Autosomal Recessive
Perianal abscess, Enterocolitis, Folliculitis, Pyoderma, Colitis, Crohn's disease OMIM:613148
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Increased circulating IgE level, Panhypogammaglobulinemia, Pneumonia, Otitis media OMIM:602450
Wiskott-Aldrich Syndrome
Eczema, Reduced natural killer cell activity, Increased circulating IgA level, Increased circulat... OMIM:301000
Trichinellosis
Skin rash, Edema, Facial edema, Periorbital edema, Increased circulating IgE level, Conjunctivitis ORPHA:863
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent bacterial skin infections, Skin rash, Pneumonia, Abnormal immunoglobulin level, Recurre... ORPHA:276
Insulin Autoimmune Syndrome
Arthralgia/arthritis, Increased circulating antibody level ORPHA:411593
Peeling Skin Syndrome 4
Orthokeratosis, Hyperkeratosis, Palmoplantar keratoderma OMIM:607936
Zika Virus Disease
Maculopapular exanthema, Skin rash, Edema, Pruritus, Increased circulating IgM level, Arthritis, ... ORPHA:448237
Erythrokeratodermia Variabilis Et Progressiva 3
Orthokeratosis, Hyperkeratosis, Palmoplantar keratoderma OMIM:617525
Proteasome-Associated Autoinflammatory Syndrome 2
Skin rash, Neutrophilic infiltration of the skin, Increased circulating IgA level, Periorbital ed... OMIM:618048
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Psoriasiform dermatitis, Eczema, Bronchiectasis, Decreased circulating antibo... OMIM:616100
Immunodeficiency 64 With Lymphoproliferation
Increased circulating IgA level, Bronchiectasis, Increased circulating IgG level, Increased circu... OMIM:618534
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Polyhydramnios, Increased circulating IgE level, Recurrent pneumonia, Decreased circulating antib... ORPHA:508533
Ichthyosis, Congenital, Autosomal Recessive 8
Orthokeratosis, Hyperkeratosis OMIM:613943
Pyoderma Gangrenosum
Myositis, Pustule, Inflammation of the large intestine, Increased circulating antibody level, Rhe... ORPHA:48104
Activated Pi3K-Delta Syndrome
Pneumonia, Bronchiectasis, Decreased circulating antibody level, Increased circulating IgM level,... ORPHA:397596
Pachyonychia Congenita 2
Subungual hyperkeratosis, Folliculitis, Angular cheilitis, Palmoplantar hyperkeratosis OMIM:167210
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Glomerulonephritis, Increased circulating IgA level OMIM:314000
Familial Benign Chronic Pemphigus
Hyperkeratosis, Acantholysis ORPHA:2841
Acute Generalized Exanthematous Pustulosis
Predominantly dermal neutrophilic infiltrate, Acantholysis, Facial edema, Pruritus, Pustule, Chei... ORPHA:293173
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Immunodeficiency 96
Eczema, Decreased circulating total IgM, Defective T cell proliferation, Recurrent otitis media, ... OMIM:619774
Autoimmune Lymphoproliferative Syndrome, Type Iii
Reduced natural killer cell activity, Arthritis, Membranous nephropathy, Absent isohemagglutinin ... OMIM:615559
Selective Igm Deficiency
Fasciitis, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infections, Otitis media, R... ORPHA:331235
Igg4-Related Ophthalmic Disease
Sinusitis, Palpebral edema, Cholangitis, Increased circulating IgG4 level, Periorbital edema, Ker... ORPHA:449563
Lymphoproliferative Syndrome, X-Linked, 1
Dysgammaglobulinemia, Reduced natural killer cell activity, Fulminant hepatitis, Decreased circul... OMIM:308240
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Boutonneuse Fever
Skin rash, Increased circulating IgG level, Increased circulating IgM level, Maculopapular exanthema ORPHA:83313
Immunodeficiency 27A
Increased inflammatory response, Pneumonia, Increased circulating IgG level, Increased circulatin... OMIM:209950
Autoimmune Hepatitis
Viral hepatitis, Glomerulonephritis, Fulminant hepatitis, Thyroiditis, Ulcerative colitis, Increa... ORPHA:2137
Interstitial Granulomatous Dermatitis With Arthritis
Pruritus, Inflammatory abnormality of the skin, Rheumatoid arthritis ORPHA:79099
Pachyonychia Congenita 3
Chapped lip, Plantar hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Palmar ... OMIM:615726
Sting-Associated Vasculopathy, Infantile-Onset
Myositis, Skin rash, Increased circulating IgA level, Pustule, Increased circulating IgG level, P... OMIM:615934
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level... OMIM:603909
Myeloma, Multiple
Paraproteinemia OMIM:254500
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level... OMIM:601859
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Skin rash, Increased circulating IgA level, Increased circulating IgM level, Joint swelling, Pann... OMIM:617099
Acute Radiation Syndrome
Hyperkeratosis, Inflammatory abnormality of the skin, Interstitial pneumonitis ORPHA:454831
Pneumocystosis
Acute infectious pneumonia, Interstitial pneumonitis, Increased circulating antibody level, Chron... ORPHA:723
Proteasome-Associated Autoinflammatory Syndrome 3
Myositis, Sinusitis, Skin rash, Periorbital edema, Arthritis, Panniculitis, Increased circulating... OMIM:617591
Prolidase Deficiency
Crusting erythematous dermatitis, Increased circulating antibody level, Eczema, Recurrent pneumonia OMIM:170100
Yao Syndrome
Inflammatory abnormality of the skin, Pericarditis, Skin rash, Xerostomia, Arthritis, Keratoconju... OMIM:617321
Angiostrongyliasis
Increased circulating IgA level, Pruritus, Increased circulating specific IgE antibody, Increased... ORPHA:74
Mu-Heavy Chain Disease
Increased circulating antibody level ORPHA:100024
Congenital Disorder Of Glycosylation, Type Im
Hyperkeratosis, Inflammatory abnormality of the skin OMIM:610768
C3 Glomerulopathy
Paraproteinemia, Decreased circulating complement C3 concentration, Membranoproliferative glomeru... ORPHA:329918
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level OMIM:615285
Interstitial Lung Disease 2
Increased circulating antibody level OMIM:178500
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent otitis media, Increased circulating IgG level, Lymphocytic interstitial pneumonia OMIM:618495
Hyper-Igd Syndrome
Skin rash, Increased circulating IgA level, Lymphadenitis, Arthritis, Chronic oral candidiasis, M... OMIM:260920
Ras-Associated Autoimmune Leukoproliferative Disorder
Decreased lymphocyte apoptosis, Increased circulating antibody level OMIM:614470
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Increased circulating antibody level OMIM:202700
Adult-Onset Nemaline Myopathy
Paraproteinemia ORPHA:171442
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Pneumonia, Bronchiectasis, Increased circulating IgM level, Decreased circulating IgA ... OMIM:242860
Simple Cryoglobulinemia
Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephritis, Monoclonal elevation of ... ORPHA:91139
Q Fever
Cryoglobulinemia, Pericarditis, Osteomyelitis, Maculopapular exanthema, Pneumonia, Pericardial ef... ORPHA:781
Caffey Disease
Increased circulating antibody level ORPHA:1310
Simpson-Golabi-Behmel Syndrome
Increased circulating IgE level, Polyhydramnios ORPHA:373
Tempi Syndrome
Increased circulating IgG level, Ascites, Transudative pleural effusion ORPHA:284227
Melkersson-Rosenthal Syndrome
Periorbital edema, Inflammatory abnormality of the skin, Cheilitis, Edema ORPHA:2483
Ebola Hemorrhagic Fever
Acute pancreatitis, Increased circulating antibody level, Hepatitis, Maculopapular exanthema ORPHA:319218
Vexas Syndrome
Inflammatory abnormality of the skin, Neutrophilic infiltration of the skin, Chondritis of pinna,... OMIM:301054
Congenital Analbuminemia
Edema, Facial edema, Pedal edema, Increased circulating antibody level, Oligohydramnios ORPHA:86816
Coccidioidomycosis
Pericarditis, Osteomyelitis, Skin rash, Pneumonia, Pruritus, Erythema nodosum, Peritonitis, Incre... ORPHA:228123
Leishmaniasis
Rhinitis, Increased circulating antibody level ORPHA:507
Immunodeficiency 36 With Lymphoproliferation
Increased circulating IgM level, Decreased circulating IgG level, Bronchiectasis, Decreased circu... OMIM:616005
Poems Syndrome
Edema, Pericardial effusion, Abnormality of skin physiology, Increased circulating antibody level... ORPHA:2905
Adult Idiopathic Neutropenia
Increased circulating IgM level, Recurrent aphthous stomatitis ORPHA:2688
Uremic Pruritus
Recurrent skin infections, Inflammatory abnormality of the skin, Abnormality of serum cytokine le... ORPHA:94059
Viss Syndrome
Chronic gastritis, Eczema, Polyhydramnios, Increased circulating IgE level, Atopic dermatitis, In... OMIM:619472
Postinfectious Vasculitis
Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ... ORPHA:48435
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Pruritus, Granulomatous cholangitis, Ulcerative colitis, Increased circulating IgG level, Inflamm... ORPHA:562639
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level ORPHA:206594
Hyperimmunoglobulinemia D With Periodic Fever
Arthritis, Peritonitis, Recurrent aphthous stomatitis, Increased circulating IgA level ORPHA:343
Primary Sjögren Syndrome
Myositis, Chronic active hepatitis, Glomerulonephritis, Lymphocytic interstitial pneumonia, Eryth... ORPHA:289390
Gaucher Disease Type 1
Pericardial effusion, Osteoarthritis, Pedal edema, Increased circulating antibody level, Ascites ORPHA:77259
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Skin rash, Chilblains, Edema, Pneumonia, Pericardial effusion, Atopic dermati... OMIM:615846
Rift Valley Fever
Skin rash, Hepatitis, Uveitis, Macular edema, Increased circulating IgG level, Increased circulat... ORPHA:319251
Lassa Fever
Facial edema, Increased circulating IgM level, Conjunctivitis ORPHA:99824
Primary Biliary Cholangitis
Increased circulating IgA level, Pruritus, Hepatitis, Gastrointestinal inflammation, Increased ci... ORPHA:186
Mevalonic Aciduria
Increased circulating IgD level, Skin rash, Edema, Morbilliform rash OMIM:610377
Scleromyxedema
Pruritus, Paraproteinemia ORPHA:167635
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Brucellosis
Anterior uveitis, Pericarditis, Osteomyelitis, Pneumonia, Glomerulonephritis, Orchitis, Myocardit... ORPHA:1304
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level ORPHA:99965
Igg4-Related Dacryoadenitis And Sialadenitis
Myositis, Palpebral edema, Increased circulating IgG4 level, Increased circulating IgA level, Fac... ORPHA:79078
Japanese Encephalitis
Increased circulating IgM level, Increased circulating antibody level, Infectious encephalitis, C... ORPHA:79139
Insulin-Resistance Syndrome Type B
Skin rash, Pneumonia, Decreased circulating complement factor B concentration, Increased circulat... ORPHA:2298
Proteasome-Associated Autoinflammatory Syndrome 1
Episcleritis, Increased circulating interleukin 6 concentration, Increased circulating interleuki... OMIM:256040
Mucopolysaccharidosis-Plus Syndrome
Increased circulating IgM level, Recurrent pneumonia, Nephritis, Bone marrow hypocellularity OMIM:617303
Alveolar Echinococcosis
Increased circulating antibody level, Cholangitis, Pedal edema, Cutaneous abscess ORPHA:284
Trichothiodystrophy 3, Photosensitive
Increased circulating IgA level OMIM:616395
Multiple Myeloma
Increased circulating IgG level, Pleural effusion, Increased circulating IgA level, Decreased cir... ORPHA:29073
Al Amyloidosis
Xerostomia, Peripheral edema, Increased circulating antibody level ORPHA:85443
Inflammatory Pseudotumor Of The Liver
Increased hepatitis B virus antibody level ORPHA:90003
Tubulointerstitial Nephritis And Uveitis Syndrome
Nongranulomatous uveitis, Anterior uveitis, Skin rash, Intermediate uveitis, Macular edema, Scler... ORPHA:91500
Sarcoidosis, Susceptibility To, 1
Abnormality of T cell physiology, Pericardial effusion, Iridocyclitis, Bronchiectasis, Uveitis, A... OMIM:181000
Cystic Echinococcosis
Membranous nephropathy, Increased circulating antibody level ORPHA:400
Crimean-Congo Hemorrhagic Fever
Acute pancreatitis, Pericardial effusion, Erythema nodosum, Myocarditis, Epididymitis, Orchitis, ... ORPHA:99827
Primary Sclerosing Cholangitis
Pruritus, Hepatitis, Uveitis, Polyclonal elevation of IgM, Ulcerative colitis, Thyroiditis, Pleur... ORPHA:171
Marburg Hemorrhagic Fever
Pericarditis, Skin rash, Maculopapular exanthema, Orchitis, Uveitis, Dehydration, Arthritis, Incr... ORPHA:99826
Encephalitis Lethargica
Increased circulating antibody level ORPHA:83600
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Increased circulating IgM level, Decreased circulating IgG level, Conjunctivitis, Bone marrow hyp... ORPHA:505248
Tick-Borne Encephalitis
Increased circulating IgG level, Abnormality of serum cytokine level, Increased circulating IgM l... ORPHA:297
Gaucher Disease Type 3
Pericardial effusion, Increased circulating antibody level, Hydrops fetalis ORPHA:77261
Aapoaiv Amyloidosis
Paraproteinemia ORPHA:439232
Lysinuric Protein Intolerance
Glomerulonephritis, Decreased circulating antibody level, Abnormality of humoral immunity, Tubulo... ORPHA:470
Cysticercosis
Iridocyclitis, Increased circulating antibody level, Infectious encephalitis ORPHA:1560
Gaucher Disease
Osteomyelitis, Osteoarthritis, Hepatitis, Hydrops fetalis, Increased circulating antibody level ORPHA:355
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Increased circulating antibody level OMIM:606002
Yellow Fever
Increased circulating IgM level, Increased circulating interleukin 6 concentration, Skin rash, Ac... ORPHA:99829

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 Kprp

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 Kprp.

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

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
Kprpem1(IMPC)Mbp Exon Deletion Mice, Tissue
Kprptm113525(L1L2_Pgk_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Kprptm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Kprptm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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