Not currently registered for phenotyping at IMPC

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

Gene Summary

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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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
Increased circulating IgE level, Palmoplantar hyperkeratosis, Plantar hyperkeratosis, Palmar hype... OMIM:144200
Palmoplantar Keratoderma, Norrbotten Recessive Type
Recurrent cutaneous fungal infections, Palmoplantar keratoderma, Hyperkeratosis OMIM:244850
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Atopic dermatitis, Increased circulating interleukin 6, Decreased circulating IgG level, Recurren... OMIM:618944
Ichthyosis, Lamellar, Autosomal Dominant
Pruritus, Hyperkeratosis OMIM:146750
Hypotrichosis Simplex Of The Scalp
Atopic dermatitis, Allergic rhinitis, Pruritus, Parakeratosis, Increased circulating IgE level, H... ORPHA:90368
Verrucous Hemangioma
Hyperkeratotic papule, Inflammatory abnormality of the skin ORPHA:464318
Familial Reactive Perforating Collagenosis
Hyperkeratotic papule, Inflammatory abnormality of the skin, Pruritus, Perifolliculitis, Maculopa... ORPHA:79147
Dystrophic Epidermolysis Bullosa Pruriginosa
Pruritus, Increased circulating IgE level, Hyperkeratosis ORPHA:89843
Ige Responsiveness, Atopic
Increased circulating IgE level, Eczema, Allergic rhinitis OMIM:147050
Acne Inversa, Familial, 3
Perifolliculitis, Acne inversa, Chronic furunculosis, Recurrent cutaneous abscess formation 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
Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis, Acne inversa, Foll... OMIM:613736
Palmoplantar Keratoderma, Nonepidermolytic, Focal 2
Palmoplantar keratoderma, Hyperkeratosis OMIM:616400
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type
Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema ORPHA:86923
Erythrokeratodermia Variabilis Et Progressiva 5
Palmoplantar hyperkeratosis, Hyperkeratosis OMIM:617756
Immunodeficiency 51
Eczema, Folliculitis, Pustule, Chronic furunculosis, Pneumonia, Chronic oral candidiasis, Recurre... OMIM:613953
Epidermolysis Bullosa Simplex 1C, Localized
Hyperkeratosis OMIM:131800
Erythrokeratodermia Variabilis Et Progressiva 6
Pruritus, Superficial dermal perivascular inflammatory infiltrate, Parakeratosis OMIM:618531
Ichthyosis Hystrix Of Curth-Macklin
Recurrent skin infections, Diffuse palmoplantar hyperkeratosis, Hyperkeratosis ORPHA:79503
Chilblain Lupus
Inflammatory abnormality of the skin, Pruritis on hand, Discoid lupus rash, Malar rash, Increased... ORPHA:90280
Immunodeficiency 72 With Autoinflammation
Herpes simplex encephalitis, Bronchiectasis, Recurrent otitis media, Increased circulating IgG le... OMIM:618982
Epidermolysis Bullosa Dystrophica, Pretibial
Pruritus, Hyperkeratosis OMIM:131850
Palmoplantar Keratoderma-Deafness Syndrome
Palmoplantar keratoderma, Hyperkeratosis ORPHA:2202
Mental Retardation, Fra12A Type
Hyperkeratosis OMIM:136630
Ichthyosis, Congenital, Autosomal Recessive 13
Palmoplantar hyperkeratosis, Hyperkeratosis OMIM:617574
Aquagenic Palmoplantar Keratoderma
Atopic dermatitis, Orthokeratotic hyperkeratosis, Edema, Palmoplantar keratoderma, Palmar pruritus ORPHA:498359
Netherton Syndrome
Allergic rhinitis, Erythroderma, Angioedema, Decreased circulating IgG level, Hypernatremic dehyd... OMIM:256500
Candidiasis, Familial, 2
Increased circulating IgE level, Chronic oral candidiasis, Deep dermatophytosis OMIM:212050
Dissecting Cellulitis Of The Scalp
Pruritus, Edema, Recurrent skin infections ORPHA:345
Hyperkeratosis Lenticularis Perstans
Hyperkeratosis lenticularis perstans OMIM:144150
Angioma Serpiginosum, Autosomal Dominant
Hyperkeratosis OMIM:106050
Reticulate Acropigmentation Of Kitamura
Hyperkeratosis OMIM:615537
Papillomatosis, Confluent And Reticulated
Hyperkeratosis OMIM:167900
Immunodeficiency 25
Erythroderma, Complete or near-complete absence of specific antibody response to tetanus vaccine,... OMIM:610163
Palmoplantar Keratoderma, Punctate Type Iii
Hyperkeratosis OMIM:101850
Sjogren-Larsson-Like Ichthyosis Without Cns Or Eye Involvement
Hyperkeratosis OMIM:270220
Dermatoleukodystrophy
Hyperkeratosis ORPHA:1659
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Sinusitis, Inflammatory abnormality of the skin, Lack of T cell function, Recurrent otitis media,... ORPHA:277
Cole Disease
Palmoplantar keratoderma, Hyperkeratosis OMIM:615522
Congenital Panfollicular Nevus
Hyperkeratosis ORPHA:139414
Severe Combined Immunodeficiency, X-Linked
Agammaglobulinemia, Pneumonia, Decreased circulating IgA level, Chronic oral candidiasis, Reduced... OMIM:300400
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Hyperkeratosis OMIM:615028
Peeling Skin Syndrome 5
Hyperkeratosis OMIM:617115
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Eczema, Reduced antigen-specific T cell proliferation, Reduced delayed hypersensitivity, Increase... OMIM:617241
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgA level, Impaired memory B cell generation, Decreased circulating IgG lev... OMIM:606843
Acrokeratosis Verruciformis
Hyperkeratosis OMIM:101900
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level, Eczema, Thyroiditis OMIM:618985
Immunodeficiency, Common Variable, 11
Crohn's disease, Decreased circulating IgG level, Inflammation of the large intestine, Increased ... OMIM:615767
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Increased circulating IgE level, Recurr... OMIM:147060
Ichthyosis, Congenital, Autosomal Recessive 14
Orthokeratotic hyperkeratosis, Pruritus, Hyperkeratosis OMIM:617571
Combined Immunodeficiency Due To Dock8 Deficiency
Atopic dermatitis, Pneumonia, Chronic otitis media, Increased circulating IgE level, Recurrent ba... ORPHA:217390
Benign Cephalic Histiocytosis
Inflammatory abnormality of the skin, Skin rash ORPHA:157997
Ichthyosis With Confetti
Erythroderma, Palmoplantar hyperkeratosis, Hyperkeratosis OMIM:609165
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Eczema, Bronchiectasis, Recurrent otitis media, Keratitis, Increased circulating IgE level OMIM:618523
Mal De Meleda
Inflammatory abnormality of the skin, Palmoplantar keratoderma, Superficial dermal perivascular i... ORPHA:87503
Kerion Celsi
Inflammatory abnormality of the skin, Recurrent skin infections, Recurrent cutaneous abscess form... ORPHA:499
Erythrokeratodermia Variabilis Et Progressiva 1
Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Erythroderma OMIM:133200
Pityriasis Rubra Pilaris
Eczema, Erythroderma, Pustule, Subungual hyperkeratosis, Pruritus, Palmoplantar keratoderma ORPHA:2897
Peeling Skin Syndrome 1
Pruritus, Increased circulating IgE level OMIM:270300
Inflammatory Skin And Bowel Disease, Neonatal, 1
Increased circulating IgE level, Blepharitis, Erythroderma, Pustule OMIM:614328
Pachyonychia Congenita 4
Palmoplantar keratoderma, Hyperkeratosis OMIM:615728
Iga Pemphigus
Pustule, Acantholysis, Increased circulating IgA level, Pruritus, Neutrophilic infiltration of th... ORPHA:555905
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Seborrhea-Like Dermatitis With Psoriasiform Elements
Seborrheic dermatitis, Hyperkeratosis OMIM:610227
Acquired Ichthyosis
Pruritus, Palmoplantar keratoderma, Recurrent skin infections, Hyperkeratosis ORPHA:454
Elastosis Perforans Serpiginosa
Hyperkeratotic papule, Crusting erythematous dermatitis ORPHA:79148
Peeling Skin Syndrome 6
Pruritus, Orthokeratosis, Parakeratosis OMIM:618084
Erythrokeratodermia Variabilis Et Progressiva 4
Palmoplantar hyperkeratosis, Hyperkeratosis OMIM:617526
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Pruritus, Plantar hyperkeratosis, Palmar hyperkeratosis, Hyperkeratosis ORPHA:79399
Psoriasis 2
Hyperkeratosis, Psoriasiform dermatitis, Parakeratosis OMIM:602723
Netherton Syndrome
Eczema, Erythroderma, Decreased circulating antibody level, Increased circulating IgE level, Skin... ORPHA:634
Erythrokeratodermia Variabilis Et Progressiva 3
Palmoplantar keratoderma, Hyperkeratosis OMIM:617525
Ichthyosis, Congenital, Autosomal Recessive 10
Palmoplantar keratoderma, Erythroderma OMIM:615024
Immunodeficiency 89 And Autoimmunity
Bronchiectasis, Increased circulating IgA level, Increased circulating IgG level, Crohn's disease... OMIM:619632
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Psoriasiform dermatitis, Eczema, Erythroderma, Decreased circulating IgA level, Chronic oral cand... OMIM:606367
Olmsted Syndrome, X-Linked
Subungual hyperkeratosis, Palmoplantar keratoderma, Parakeratosis, Posterior blepharitis, Hyperke... OMIM:300918
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Erythroderma, Increased circulating IgA level, Decreased lymphocyte proliferation in response to ... ORPHA:169154
Immunodeficiency 50
Eczema, Decreased circulating antibody level OMIM:300988
Ulerythema Ophryogenesis
Hyperkeratotic papule, Follicular hyperkeratosis, Acne, Contact dermatitis ORPHA:3406
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgA level, Decreased circulating IgG level, Epididymitis, Impaired Ig class... OMIM:608106
Kimura Disease
Increased circulating IgE level ORPHA:482
Olmsted Syndrome 2
Cheilitis, Pruritus, Palmoplantar keratoderma, Parakeratosis, Perioral hyperkeratosis, Hyperkerat... OMIM:619208
Immunodeficiency 85 And Autoimmunity
Eczema, Erythroderma, Decreased circulating IgA level, Oligoarthritis, Decreased circulating IgG ... OMIM:619510
Histiocytosis, Familial Lipochrome
Increased circulating antibody level OMIM:235900
Pruritic Urticarial Papules And Plaques Of Pregnancy
Eczematoid dermatitis, Pruritis on breast, Pruritis on hand, Pruritis on abdomen, Pruritus, Parak... ORPHA:64745
Caspase 8 Deficiency
Eczema, Pneumonia, Decreased circulating IgA level, Decreased circulating IgG level, Reduced CD95... OMIM:607271
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Immunodeficiency 66
Defective T cell proliferation, Recurrent skin infections, Pustule OMIM:618847
Infantile Digital Fibromatosis
Hyperkeratosis, Parakeratosis ORPHA:199267
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Sinusitis, Atopic dermatitis, Decreased specific antibody response to polysaccharide vaccine, Rhi... ORPHA:70593
Pgm3-Cdg
Atopic dermatitis, Eczema, Allergic rhinitis, Bronchiectasis, Chronic otitis media, Increased cir... ORPHA:443811
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eczema, Erythroderma, Hepatitis, Arthritis, Increased circulating IgE level, Glomerulonephritis OMIM:304790
Lymphatic Malformation 4
Lymphedema, Hyperkeratosis OMIM:615907
Igg4-Related Aortitis
Increased circulating IgG4 level, Increased inflammatory response, Increased circulating IgE leve... ORPHA:449400
Autosomal Dominant Epidermolytic Ichthyosis
Palmoplantar keratoderma, Erythroderma, Hyperkeratosis ORPHA:312
Neutropenia, Chronic Familial
Periodontitis, Increased circulating antibody level OMIM:162700
Ichthyosis, Congenital, Autosomal Recessive 5
Orthokeratosis, Palmoplantar keratoderma, Erythroderma, Parakeratosis OMIM:604777
Classic Mycosis Fungoides
Eczema, Pruritus, Edema, Skin rash, Hyperkeratosis ORPHA:2584
Autosomal Dominant Hyper-Ige Syndrome
Eczema, Chronic otitis media, Pruritus, Osteomyelitis, Increased circulating IgE level, Skin rash ORPHA:2314
Immunodeficiency 60 And Autoimmunity
Bronchiectasis, Decreased circulating IgA level, Decreased circulating IgG level, Crohn's disease... OMIM:618394
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Ichthyosis, Congenital, Autosomal Recessive 7
Palmoplantar keratoderma, Erythroderma OMIM:615022
Angioma Serpiginosum, X-Linked
Hyperkeratosis OMIM:300652
Immunodeficiency 23
Eczema, Allergic rhinitis, Bronchiectasis, Increased circulating IgG level, Chronic mucocutaneous... OMIM:615816
Ichthyosis, Hystrix-Like, With Deafness
Palmoplantar keratoderma, Erythroderma, Punctate keratitis, Hyperkeratosis OMIM:602540
Lichen Planus Pemphigoides
Conjunctivitis, Pruritus, Blepharitis, Hyperkeratosis ORPHA:254478
Aspergillosis
Sinusitis, Infectious encephalitis, Pneumonia, Bronchiectasis, Hepatitis, Osteomyelitis, Keratiti... ORPHA:1163
Porokeratosis
Pruritus, Hyperkeratosis ORPHA:79358
Singleton-Merten Syndrome 2
Hyperkeratosis OMIM:616298
Idiopathic Chronic Eosinophilic Pneumonia
Atopic dermatitis, Increased circulating IgE level, Pleural effusion ORPHA:2902
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Psoriasiform dermatitis, Erythroderma, Acantholysis, Palmoplantar keratoderma, Orthokeratosis, Re... OMIM:615508
Ichthyosis Prematurity Syndrome
Allergic rhinitis, Erythroderma, Pruritus, Polyhydramnios, Follicular hyperkeratosis OMIM:608649
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Pustule, Myositis, Acne, Arthritis, Increased inflammatory response, Crohn's disease, Increased c... ORPHA:69126
Panniculitis-Induced Localized Lipodystrophy
Inflammatory abnormality of the skin, Abnormal immunoglobulin level ORPHA:90159
Immunodeficiency With Hyper-Igm, Type 1
Stomatitis, Decreased circulating IgA level, Impaired memory B cell generation, Hepatitis, Decrea... OMIM:308230
Meige Disease
Lymphedema, Edema of the dorsum of hands, Facial edema, Recurrent bacterial skin infections, Cobb... ORPHA:90186
Wiskott-Aldrich Syndrome, Autosomal Dominant
Sinusitis, Eczema, Inflammation of the large intestine, Pneumonia, Increased circulating IgA leve... OMIM:600903
Wiskott-Aldrich Syndrome 2
Reduced natural killer cell activity, Eczema, Defective T cell proliferation OMIM:614493
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Inflammatory abnormality of the skin, Eczematoid dermatitis, Eczema, Psoriasiform dermatitis, Tub... ORPHA:37042
Epidermolytic Hyperkeratosis
Erythroderma, Palmoplantar hyperkeratosis OMIM:113800
Cirrhosis, Familial
Chronic active hepatitis, Increased circulating antibody level, Hepatitis OMIM:118900
Vohwinkel Syndrome, Variant Form
Hyperkeratosis, Orthokeratosis, Parakeratosis OMIM:604117
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Hepatitis, Acne, Decreased circulating antibod... OMIM:300635
Erythema Elevatum Diutinum
Increased circulating antibody level, Skin rash ORPHA:90000
Thrombocytopenia 1
Increased circulating IgA level, Increased circulating IgE level, Eczema OMIM:313900
Immunodeficiency, Common Variable, 14
Psoriasiform dermatitis, Decreased specific antibody response to vaccination, Decreased circulati... OMIM:617765
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Erythroderma, Decreased circulating total IgA, Pneumonia, Chronic oral candidiasis, Hepatitis, De... ORPHA:169160
Proteasome-Associated Autoinflammatory Syndrome 2
Increased circulating antibody level, Periorbital edema, Skin rash OMIM:618048
Bazex Syndrome
Pruritus, Edema, Palmoplantar keratoderma, Parakeratosis, Hyperkeratosis ORPHA:166113
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Atopic dermatitis, Eczema, Bronchiectasis, Pruritus, Recurrent otitis media, Chronic mucocutaneou... OMIM:618282
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Glomerulonephritis, Pneumonia, Increased circulating antibody level OMIM:247800
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Increased circulating antibody level, Recurrent otitis media OMIM:618495
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Orthokeratosis, Acne inversa, Hyperkeratosis OMIM:617337
Lymphatic Malformation 3
Recurrent skin infections, Lymphedema OMIM:613480
Igg4-Related Kidney Disease
Tubulointerstitial nephritis, Increased circulating IgG1 level, Inflammatory abnormality of the s... ORPHA:449395
Autoinflammation With Arthritis And Dyskeratosis
Keratoconjunctivitis sicca, Increased circulating IgA level, Increased circulating IgG level, Pun... OMIM:617388
Milroy Disease
Lymphedema, Hyperkeratosis, Pedal edema, Erysipelas, Predominantly lower limb lymphedema ORPHA:79452
Urban-Rogers-Meyer Syndrome
Increased circulating IgE level ORPHA:3409
Autoimmune Lymphoproliferative Syndrome
Glomerulonephritis, Increased circulating IgA level, Decreased circulating IgG level, Hepatitis, ... ORPHA:3261
Ichthyosis, Congenital, Autosomal Recessive 6
Erythroderma, Palmoplantar keratoderma, Parakeratosis, Orthokeratosis, Hyperkeratosis OMIM:612281
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM OMIM:153600
Igg4-Related Submandibular Gland Disease
Cholangitis, Prostatitis, Xerostomia, Increased circulating IgG4 level, Increased circulating IgG... ORPHA:449432
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Sinusitis, Pneumonia, Decreased circulating IgA level, Increased circulating IgE level, Absent sp... OMIM:102700
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Predominantly dermal neutrophilic infiltrate, Pustule, Superficial dermal perivascular inflammato... ORPHA:284426
Ectodermal Dysplasia And Immunodeficiency 1
Increased circulating IgA level, Reduced natural killer cell activity, Dysgammaglobulinemia, Incr... OMIM:300291
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Folliculitis, Palmoplantar keratoderma, Keratitis, Follicular hyperkeratosis, Blepharitis, Conjun... OMIM:308800
Immunodeficiency 14A, Autosomal Dominant
Decreased specific pneumococcal antibody level, Increased circulating IgM level, Decreased circul... OMIM:615513
Pemphigus Foliaceus
Psoriasiform dermatitis, Erythroderma, Acantholysis, Pustule, Pruritus, Crusting erythematous der... ORPHA:79481
Psoriasis 14, Pustular
Cholangitis, Psoriasiform dermatitis, Pustule, Oligoarthritis, Parakeratosis OMIM:614204
Pityriasis Rubra Pilaris
Orthokeratosis, Palmoplantar keratoderma, Subungual hyperkeratosis, Parakeratosis OMIM:173200
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM OMIM:236000
Immunodeficiency 67
Increased circulating IgE level OMIM:607676
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Hyperkeratosis, Pruritus, Palmoplantar keratoderma, Parakeratosis OMIM:615821
Tularemia
Pneumonia, Increased circulating antibody level, Otitis media, Inflammatory abnormality of the ey... ORPHA:3392
Schnitzler Syndrome
Arthritis, Pruritus, Increased circulating IgM level, Skin rash ORPHA:37748
Subcorneal Pustular Dermatosis
Pruritus, Increased circulating antibody level, Rheumatoid arthritis, Pustule ORPHA:48377
Pachyonychia Congenita 2
Folliculitis, Palmoplantar hyperkeratosis, Subungual hyperkeratosis OMIM:167210
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgA level, Increased circulating IgG level OMIM:144120
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, Bronchiectasis, Decreased circulating antibody level, Gastri... OMIM:618108
Inflammatory Bowel Disease 28, Autosomal Recessive
Folliculitis, Pyoderma, Perianal abscess, Crohn's disease, Enterocolitis, Colitis OMIM:613148
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Recurrent otitis media, Increased circulating IgM level, Increased circulating IgG level, Bronchi... OMIM:619220
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Pneumonia, Decreased circulating IgA level, Abnormal immunoglobulin level, Chronic oral candidias... ORPHA:276
Pressure-Induced Localized Lipoatrophy
Inflammatory abnormality of the skin ORPHA:90160
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Psoriasiform dermatitis, Eczema, Bronchiectasis, Decreased circulating IgA level, Decreased circu... OMIM:616100
Superficial Epidermolytic Ichthyosis
Edema, Palmoplantar keratoderma, Acantholysis ORPHA:455
Lead Poisoning
Abnormality of humoral immunity, Increased circulating IgE level, Tubulointerstitial nephritis, S... ORPHA:330015
Insulin Autoimmune Syndrome
Arthralgia/arthritis, Increased circulating antibody level ORPHA:411593
Chronic Actinic Dermatitis
Late onset atopic dermatitis, Eczema, Allergic rhinitis, Erythroderma, Pruritus ORPHA:330064
Wiskott-Aldrich Syndrome
Eczema, Inflammation of the large intestine, Increased circulating IgA level, Recurrent otitis me... OMIM:301000
Trichinellosis
Edema, Facial edema, Increased circulating IgE level, Skin rash, Periorbital edema, Conjunctivitis ORPHA:863
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Palmoplantar keratoderma, Angular cheilitis, Hyperkeratosis OMIM:616295
Immunodeficiency 64
Defective T cell proliferation, Bronchiectasis, Increased circulating IgA level, Decreased circul... OMIM:618534
Juvenile Idiopathic Arthritis
Psoriasiform dermatitis, Pericardial effusion, Arthritis, Uveitis, Skin rash, Generalized hyperke... ORPHA:92
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased circulating IgG level, Decreased circulating antibody level, Decreased lymphocyte proli... ORPHA:508533
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Defective T cell proliferation, Increased circulating IgG level, Eosinophilic infiltration of the... OMIM:618213
Peeling Skin Syndrome 4
Orthokeratosis, Palmoplantar keratoderma, Hyperkeratosis OMIM:607936
Keratoderma Hereditarium Mutilans With Ichthyosis
Palmoplantar keratoderma, Parakeratosis, Orthokeratosis, Honeycomb palmoplantar hyperkeratosis, H... ORPHA:79395
Pyoderma Gangrenosum
Inflammation of the large intestine, Pustule, Myositis, Increased circulating antibody level, Rhe... ORPHA:48104
Aicardi-Goutieres Syndrome 7
Atopic dermatitis, Increased circulating antibody level OMIM:615846
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgA level, Chronic oral candidiasis, Decreased circulating IgG level, Otiti... ORPHA:275
Immunodeficiency 81
Recurrent cutaneous abscess formation, Reduced natural killer cell activity, Impaired collagen-in... OMIM:619374
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level, Glomerulonephritis OMIM:314000
Lymphoproliferative Syndrome, X-Linked, 1
Infectious encephalitis, Reduced natural killer cell activity, Decreased circulating antibody lev... OMIM:308240
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Folliculitis, Palmoplantar keratoderma, Keratitis, Blepharitis, Conjunctivitis OMIM:612843
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Autoimmune Lymphoproliferative Syndrome, Type Iii
Membranous nephropathy, Reduced natural killer cell activity, Recurrent otitis media, Decreased s... OMIM:615559
Ichthyosis, Congenital, Autosomal Recessive 8
Orthokeratosis, Hyperkeratosis OMIM:613943
Familial Benign Chronic Pemphigus
Acantholysis, Hyperkeratosis ORPHA:2841
Igg4-Related Ophthalmic Disease
Sinusitis, Cholangitis, Prostatitis, Increased circulating IgG4 level, Pancreatitis, Keratitis, I... ORPHA:449563
Pachyonychia Congenita 3
Chapped lip, Palmoplantar keratoderma, Palmar hyperkeratosis, Hyperkeratosis, Plantar hyperkeratosis OMIM:615726
Immunodeficiency 33
Increased circulating IgA level, Decreased circulating total IgM OMIM:300636
Immunodeficiency 58
Eczema, Allergic rhinitis, Decreased specific antibody response to vaccination, Recurrent cutaneo... OMIM:618131
Zika Virus Disease
Infectious encephalitis, Pruritus, Edema, Arthritis, Increased circulating IgM level, Maculopapul... ORPHA:448237
Interstitial Granulomatous Dermatitis With Arthritis
Inflammatory abnormality of the skin, Pruritus, Rheumatoid arthritis ORPHA:79099
Immunodeficiency 27A
Pneumonia, Salmonella osteomyelitis, Increased circulating IgG level, Increased inflammatory resp... OMIM:209950
Boutonneuse Fever
Increased circulating IgM level, Maculopapular exanthema, Increased circulating IgG level, Skin rash ORPHA:83313
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Pustule, Stomatitis, Osteomyelitis, Skin rash, Hyperkeratosis, Joint swelling OMIM:612852
Idiopathic Localized Lipodystrophy
Inflammatory abnormality of the skin, Pruritus ORPHA:90158
Selective Igm Deficiency
Non-infectious meningitis, Fasciitis, Crohn's disease, Decreased circulating total IgM, Allergic ... ORPHA:331235
Bleeding Disorder, Platelet-Type, 21
Psoriasiform dermatitis, Eczema, Impaired platelet aggregation OMIM:617443
Autoimmune Hepatitis
Inflammation of the large intestine, Ascites, Sclerosing cholangitis, Fulminant hepatitis, Arthri... ORPHA:2137
Sting-Associated Vasculopathy, Infantile-Onset
Pustule, Myositis, Increased circulating IgA level, Increased circulating IgG level, Malar rash, ... OMIM:615934
Complement Factor I Deficiency
Sinusitis, Decreased serum complement factor H, Recurrent otitis media, Pyelonephritis, Arthritis... OMIM:610984
Majeed Syndrome
Inflammatory abnormality of the skin, Joint swelling, Skin rash, Osteomyelitis OMIM:609628
Myeloma, Multiple
Paraproteinemia OMIM:254500
Autoimmune Lymphoproliferative Syndrome, Type Iia
Decreased lymphocyte apoptosis, Increased circulating IgA level, Nephritis, Increased circulating... OMIM:603909
Autoimmune Lymphoproliferative Syndrome
Decreased lymphocyte apoptosis, Increased circulating IgA level, Increased circulating IgG level,... OMIM:601859
Pulmonary Nodular Lymphoid Hyperplasia, Familial
Increased circulating antibody level, Rheumatoid arthritis OMIM:178610
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased circulating IgA level, Panniculitis, Increased circulating IgM level, Skin rash, Joint ... OMIM:617099
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level OMIM:615285
Yao Syndrome
Keratoconjunctivitis sicca, Inflammatory abnormality of the skin, Pericarditis, Xerostomia, Arthr... OMIM:617321
Proteasome-Associated Autoinflammatory Syndrome 3
Sinusitis, Myositis, Panniculitis, Arthritis, Increased circulating antibody level, Skin rash, Pe... OMIM:617591
Inflammatory Bowel Disease 25, Autosomal Recessive
Perianal abscess, Folliculitis, Enterocolitis OMIM:612567
Prolidase Deficiency
Crusting erythematous dermatitis, Eczema, Recurrent pneumonia, Increased circulating antibody level OMIM:170100
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Pustule, Lack of T cell function, Chronic oral candidiasis, Partial IgA deficiency, Decreased lym... ORPHA:35078
Pneumocystosis
Interstitial pneumonitis, Chronic oral candidiasis, Increased circulating antibody level, Acute i... ORPHA:723
Mu-Heavy Chain Disease
Increased circulating antibody level ORPHA:100024
Angiostrongyliasis
Increased circulating IgA level, Pruritus, Increased circulating IgG level, Increased circulating... ORPHA:74
C3 Glomerulopathy
Decreased serum complement C4, Paraproteinemia, Decreased serum complement C3, Membranoproliferat... ORPHA:329918
Reactive Arthritis
Inflammation of the large intestine, Pericarditis, Pustule, Arthritis, Osteomyelitis, Hyperkerato... ORPHA:29207
Interstitial Lung Disease 2
Increased circulating antibody level OMIM:178500
Hyper-Igd Syndrome
Lymphadenitis, Increased circulating IgA level, Chronic oral candidiasis, Arthritis, Serositis, S... OMIM:260920
Ras-Associated Autoimmune Leukoproliferative Disorder
Increased circulating antibody level, Decreased lymphocyte apoptosis OMIM:614470
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Increased circulating antibody level OMIM:202700
Simple Cryoglobulinemia
Pericarditis, Monoclonal elevation of circulating IgA, Monoclonal immunoglobulin M proteinemia, N... ORPHA:91139
Majeed Syndrome
Inflammatory abnormality of the skin, Abnormal inflammatory response, Pustule, Synovitis, Edema, ... ORPHA:77297
Q Fever
Myocarditis, Infectious encephalitis, Pericarditis, Pneumonia, Endocarditis, Pericardial effusion... ORPHA:781
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Pneumonia, Bronchiectasis, Decreased circulating IgA level, Increased circulating IgM ... OMIM:242860
Adult-Onset Nemaline Myopathy
Paraproteinemia ORPHA:171442
Simpson-Golabi-Behmel Syndrome
Increased circulating IgE level, Polyhydramnios ORPHA:373
Vexas Syndrome
Inflammatory abnormality of the skin, Nasal chondritis, Chondritis of pinna, Neutrophilic infiltr... OMIM:301054
Tempi Syndrome
Increased circulating IgG level, Ascites, Transudative pleural effusion ORPHA:284227
Melkersson-Rosenthal Syndrome
Inflammatory abnormality of the skin, Edema, Periorbital edema, Cheilitis ORPHA:2483
Inflammatory Pseudotumor Of The Liver
Increased hepatitis B virus antibody level ORPHA:90003
Ebola Hemorrhagic Fever
Increased circulating antibody level, Hepatitis, Acute pancreatitis, Maculopapular exanthema ORPHA:319218
Caffey Disease
Increased circulating antibody level ORPHA:1310
Coccidioidomycosis
Pericarditis, Folliculitis, Pneumonia, Peritonitis, Pruritus, Panniculitis, Arthritis, Pancreatit... ORPHA:228123
Leishmaniasis
Rhinitis, Increased circulating antibody level ORPHA:507
Uremic Pruritus
Inflammatory abnormality of the skin, Pruritus, Abnormality of serum cytokine level, Recurrent sk... ORPHA:94059
Adult Idiopathic Neutropenia
Recurrent aphthous stomatitis, Increased circulating IgM level ORPHA:2688
Congenital Analbuminemia
Edema, Facial edema, Increased circulating antibody level, Oligohydramnios, Pedal edema ORPHA:86816
Poems Syndrome
Pericardial effusion, Ascites, Abnormality of skin physiology, Edema, Increased circulating antib... ORPHA:2905
Ectodermal Dysplasia-Skin Fragility Syndrome
Cheilitis, Pruritus, Chapped lip, Palmoplantar keratoderma, Follicular hyperkeratosis, Recurrent ... ORPHA:158668
Viss Syndrome
Atopic dermatitis, Eczema, Decreased circulating IgA level, Chronic gastritis, Polyhydramnios, In... OMIM:619472
Graft Versus Host Disease
Inflammatory abnormality of the skin, Pneumonia, Stomatitis, Myositis, Fasciitis, Arthritis, Acut... ORPHA:39812
Postinfectious Vasculitis
Inflammatory abnormality of the skin, Bacterial endocarditis, Pneumonia, Cryoglobulinemia, Increa... ORPHA:48435
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level ORPHA:206594
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Inflammation of the large intestine, Interface hepatitis, Granulomatous cholangitis, Pruritus, In... ORPHA:562639
Centrifugal Lipodystrophy
Inflammatory abnormality of the skin, Lymphadenitis ORPHA:90156
Primary Sjögren Syndrome
Keratoconjunctivitis sicca, Chronic active hepatitis, Tubulointerstitial nephritis, Lymphocytic i... ORPHA:289390
Hyperimmunoglobulinemia D With Periodic Fever
Increased circulating IgA level, Recurrent aphthous stomatitis, Arthritis, Peritonitis ORPHA:343
Primary Biliary Cholangitis
Ascites, Increased circulating IgA level, Pruritus, Hepatitis, Increased circulating IgM level, G... ORPHA:186
Gaucher Disease Type 1
Pericardial effusion, Ascites, Increased circulating antibody level, Pedal edema, Osteoarthritis ORPHA:77259
Rift Valley Fever
Infectious encephalitis, Hepatitis, Increased circulating IgG level, Macular edema, Uveitis, Incr... ORPHA:319251
Lassa Fever
Increased circulating IgM level, Facial edema, Conjunctivitis ORPHA:99824
Mevalonic Aciduria
Increased circulating IgD level, Edema, Morbilliform rash, Skin rash OMIM:610377
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level ORPHA:99965
X-Linked Lymphoproliferative Disease
Myocarditis, Inflammation of the large intestine, Decreased circulating IgA level, Increased circ... ORPHA:2442
Scleromyxedema
Pruritus, Paraproteinemia ORPHA:167635
Brucellosis
Myocarditis, Infectious encephalitis, Pericarditis, Pneumonia, Endocarditis, Hip osteoarthritis, ... ORPHA:1304
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Insulin-Resistance Syndrome Type B
Pneumonia, Increased circulating IgA level, Nephritis, Decreased serum complement factor B, Incre... ORPHA:2298
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating interleukin 6, Episcleritis, Increased circulating IgA level, Epididymitis,... OMIM:256040
Mucopolysaccharidosis-Plus Syndrome
Increased circulating IgM level, Nephritis, Recurrent pneumonia, Bone marrow hypocellularity OMIM:617303
Alveolar Echinococcosis
Cholangitis, Pedal edema, Cutaneous abscess, Increased circulating antibody level ORPHA:284
Igg4-Related Dacryoadenitis And Sialadenitis
Keratoconjunctivitis sicca, Tubulointerstitial nephritis, Myositis, Xerostomia, Increased circula... ORPHA:79078
Japanese Encephalitis
Infectious encephalitis, Increased circulating antibody level, Pulmonary edema, Increased circula... ORPHA:79139
Malakoplakia
Inflammatory abnormality of the skin, Urinary bladder inflammation, Pruritus, Skin rash, Orchitis ORPHA:556
Multiple Myeloma
Increased circulating IgA level, Decreased circulating antibody level, Pleural effusion, Increase... ORPHA:29073
Sarcoidosis, Susceptibility To, 1
Inflammation of the large intestine, Pericardial effusion, Bronchiectasis, Arthritis, Iridocyclit... OMIM:181000
Al Amyloidosis
Xerostomia, Increased circulating antibody level, Peripheral edema ORPHA:85443
Tubulointerstitial Nephritis And Uveitis Syndrome
Tubulointerstitial nephritis, Posterior uveitis, Increased circulating IgG level, Macular edema, ... ORPHA:91500
Cystic Echinococcosis
Membranous nephropathy, Increased circulating antibody level ORPHA:400
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Inflammatory abnormality of the skin, Eczema, Infectious encephalitis, Bronchiectasis, Hepatitis,... ORPHA:391487
Crimean-Congo Hemorrhagic Fever
Myocarditis, Pericardial effusion, Ascites, Epididymitis, Increased circulating IgG level, Paroti... ORPHA:99827
Primary Sclerosing Cholangitis
Ascites, Pruritus, Hepatitis, Pancreatitis, Uveitis, Thyroiditis, Pleural effusion, Ulcerative co... ORPHA:171
Marburg Hemorrhagic Fever
Pericarditis, Arthritis, Pancreatitis, Increased circulating antibody level, Uveitis, Maculopapul... ORPHA:99826
Encephalitis Lethargica
Increased circulating antibody level ORPHA:83600
Tick-Borne Encephalitis
Abnormality of serum cytokine level, Increased circulating IgM level, Increased circulating IgG l... ORPHA:297
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Decreased circulating IgG level, Increased circulating IgM level, Bone marrow hypocellularity, Co... ORPHA:505248
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Inflammatory abnormality of the skin, Keratoconjunctivitis sicca, Acantholysis, Pneumonia, Rhinit... ORPHA:95455
Gaucher Disease Type 3
Increased circulating antibody level, Pericardial effusion, Hydrops fetalis ORPHA:77261
Cysticercosis
Iridocyclitis, Infectious encephalitis, Increased circulating antibody level ORPHA:1560
Aapoaiv Amyloidosis
Paraproteinemia ORPHA:439232
Gaucher Disease
Hepatitis, Osteomyelitis, Increased circulating antibody level, Osteoarthritis, Hydrops fetalis ORPHA:355
Lysinuric Protein Intolerance
Tubulointerstitial nephritis, Membranous nephropathy, Decreased circulating antibody level, Pancr... ORPHA:470
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Increased circulating antibody level OMIM:606002
Yellow Fever
Increased circulating interleukin 6, Increased circulating IgM level, Acute pancreatitis, Skin rash 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.

This service may be affected by the Covid-19 pandemic. See how

MGI Allele Allele Type Produced
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

The IMPC Newsletter

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

Subscribe to newsletter