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Gene: Klk6 MGI:1343166

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Gene Summary

Name:
kallikrein related-peptidase 6
Synonyms:
Bssp,  neurosin,  Klk29,  Prss18,  protease M,  Prss9

Order Alleles

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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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.

Eye Morphology

Images Slit Lamp

4 Images

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X-ray

XRay Images Forepaw

14 Images

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DSS Histology

Images

8 Images

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X-ray

XRay Images Skull Lateral Orientation

14 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

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Anti-nuclear antibody assay

Images

6 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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Ear epidermis immunophenotyping

Images

9 Images

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Legacy Phenotype Associated Images
Klk6em1(IMPC)Wtsi
HOM, Male, WTSI
Klk6em1(IMPC)Wtsi
HOM, Male, WTSI
Klk6em1(IMPC)Wtsi
HOM, Male, WTSI
Klk6em1(IMPC)Wtsi
HOM, Male, WTSI
Klk6em1(IMPC)Wtsi
HOM, Male, WTSI

View all 75 images

Klk6em1(IMPC)Wtsi
cataract, HOM, Female, WTSI
Klk6em1(IMPC)Wtsi
cataract, HOM, Male, WTSI
Klk6em1(IMPC)Wtsi
cataract, HOM, Female, WTSI
Klk6em1(IMPC)Wtsi
cataract, HOM, Female, WTSI

Human diseases caused by Klk6 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 Klk6 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Acne Inversa, Familial, 3
Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis, Acne inversa OMIM:613737
Paget Disease, Extramammary
Neoplasm, Eczematoid dermatitis OMIM:167300
Acne Inversa, Familial, 1
Acne inversa OMIM:142690
Linear Atrophoderma Of Moulin
Pruritus, Inflammatory abnormality of the skin ORPHA:140933
Chilblain Lupus 2
Chilblains OMIM:614415
Verrucous Hemangioma
Inflammatory abnormality of the skin, Papilloma, Hemangioma ORPHA:464318
Immunodeficiency 51
Recurrent skin infections, Eczema, Pneumonia, Pustule, Chronic mucocutaneous candidiasis, Recurre... OMIM:613953
Dissecting Cellulitis Of The Scalp
Pruritus, Recurrent skin infections ORPHA:345
Benign Cephalic Histiocytosis
Inflammatory abnormality of the skin, Skin rash ORPHA:157997
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Recurrent cutaneous abscess formation, Perifolliculitis, Squamous cell carcinoma, Chronic furuncu... OMIM:613736
Kerion Celsi
Recurrent cutaneous abscess formation, Inflammatory abnormality of the skin, Recurrent skin infec... ORPHA:499
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Increased circulating interleukin 6 concentration, Recurrent skin infections, Increased circulati... OMIM:618944
Familial Reactive Perforating Collagenosis
Perifolliculitis, Inflammatory abnormality of the skin, Maculopapular exanthema, Pruritus, Crusti... ORPHA:79147
Mycosis Fungoides
Psoriasiform dermatitis, Eczema, Pruritus, Lymphoma, Neoplasm of the skin OMIM:254400
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Perifolliculitis OMIM:260910
Chilblain Lupus
Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Chronic myelomonocytic leuke... ORPHA:90280
Ige Responsiveness, Atopic
Allergic rhinitis, Increased circulating IgE level, Eczema OMIM:147050
Acquired Ichthyosis
Recurrent skin infections, Pruritus, Lymphoma, Neoplasm, Multiple myeloma, Sarcoma ORPHA:454
Chronic Actinic Dermatitis
Late onset atopic dermatitis, Eczema, Allergic rhinitis, Pruritus, Erythroderma, Actinic keratosis ORPHA:330064
Immunodeficiency 50
Eczema, Decreased circulating antibody level OMIM:300988
Erythema Nodosum, Familial
Erythema nodosum OMIM:132990
Pityriasis Rubra Pilaris
Eczema, Pruritus, Pustule, Neoplasm, Erythroderma ORPHA:2897
Interstitial Granulomatous Dermatitis With Arthritis
Pruritus, Rheumatoid arthritis, Inflammatory abnormality of the skin, Elevated circulating C-reac... ORPHA:79099
Erythrokeratodermia Variabilis Et Progressiva 6
Pruritus, Superficial dermal perivascular inflammatory infiltrate OMIM:618531
Disseminated Superficial Actinic Porokeratosis
Pruritus, Squamous cell carcinoma ORPHA:79152
Quinquaud Folliculitis Decalvans
Pustule, Recurrent skin infections ORPHA:346
Lymphatic Malformation 3
Recurrent skin infections OMIM:613480
Inflammatory Bowel Disease 28, Autosomal Recessive
Perianal abscess, Enterocolitis, Folliculitis, Pyoderma, Colitis, Crohn's disease OMIM:613148
Hereditary Leiomyomatosis And Renal Cell Cancer
Barrett esophagus, Multiple cutaneous leiomyomas, Vaginal neoplasm, Pruritus, Esophageal neoplasm... ORPHA:523
Dermatitis, Atopic
Recurrent skin infections, Eczema, Allergic rhinitis, Pruritus, Atopic dermatitis, Conjunctivitis OMIM:603165
Lymphoproliferative Syndrome, X-Linked, 2
Acne, Recurrent skin infections, Erythema nodosum, Increased circulating ferritin concentration, ... OMIM:300635
Immunodeficiency 66
Pustule, Recurrent skin infections OMIM:618847
Panniculitis-Induced Localized Lipodystrophy
Inflammatory abnormality of the skin, Abnormal immunoglobulin level ORPHA:90159
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Increased circulating IgE level, Atopic dermatitis, Bronchiectasis, Ulcerative colitis... OMIM:617638
Epidermodysplasia Verruciformis
Recurrent skin infections, Seborrheic dermatitis, Pustule, Squamous cell carcinoma, Verrucae ORPHA:302
Bullous Diffuse Cutaneous Mastocytosis
Pruritus, Cutaneous mastocytosis, Erythroderma ORPHA:280785
Bullous Impetigo
Pustule, Recurrent bacterial skin infections, Septic arthritis ORPHA:36237
Pressure-Induced Localized Lipoatrophy
Inflammatory abnormality of the skin ORPHA:90160
Keratolytic Winter Erythema
Pustule ORPHA:50943
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Panhypogammaglobulinemia, Erythema nodosum OMIM:615214
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Osteomyelitis, Recurrent skin infections, Eczema, Pruritus, Increased circulating IgE level, Recu... OMIM:618282
Progressive Multifocal Leukoencephalopathy
Abnormal astrocyte morphology, Abnormal oligodendroglia morphology ORPHA:217260
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Lymphoma, Eczema, Myelodysplasia OMIM:616871
Subcorneal Pustular Dermatosis
Pruritus, Pustule, Increased circulating antibody level, Multiple myeloma, Rheumatoid arthritis ORPHA:48377
Mal De Meleda
Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate ORPHA:87503
Elastoderma
Erysipelas, Eczema ORPHA:228240
Severe Combined Immunodeficiency, X-Linked
Skin rash, Pneumonia, Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, D... OMIM:300400
Papa Syndrome
Increased inflammatory response, Myositis, Acne, Pustule, Arthritis, Increased circulating antibo... ORPHA:69126
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Eczema, Eosinophilic infiltration of the esophagus, Increased circulating IgE level, Recurrent pn... OMIM:243700
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Acne, Elevated circulating C-reactive protein concentration, Sterile arthritis, Arthritis, Coliti... OMIM:604416
Pyoderma Gangrenosum
Myositis, Myelodysplasia, Pustule, Inflammation of the large intestine, Increased circulating ant... ORPHA:48104
Erythema Elevatum Diutinum
Skin rash, Increased circulating antibody level ORPHA:90000
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Skin rash, Verrucae, Recurrent aphthous stomatitis, Otitis media, Chronic oral candidiasis, Decre... ORPHA:275
Vexas Syndrome
Inflammatory abnormality of the skin, Neutrophilic infiltration of the skin, Chondritis of pinna,... OMIM:301054
Immunodeficiency 110 With Lymphoproliferation
Recurrent skin infections, Lymphoproliferative disorder, Recurrent pneumonia, Bronchiectasis, Chr... OMIM:614868
Immunodeficiency 57 With Autoinflammation
Skin rash, Gastritis, Perianal abscess, Bronchiectasis, Decreased circulating antibody level, Inf... OMIM:618108
Idiopathic Localized Lipodystrophy
Pruritus, Inflammatory abnormality of the skin ORPHA:90158
Sweet Syndrome
Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Increased circulating inter... ORPHA:3243
Pelizaeus-Merzbacher Disease
Reduction of oligodendroglia OMIM:312080
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Psoriasiform dermatitis, Eczema, Pneumonia, Lymphoma, Atopic dermatitis, Bron... ORPHA:436159
Pemphigus Foliaceus
Psoriasiform dermatitis, Hematological neoplasm, Pruritus, Pustule, Crusting erythematous dermati... ORPHA:79481
Inflammatory Bowel Disease 25, Autosomal Recessive
Perianal abscess, Pancolitis, Folliculitis, Enterocolitis OMIM:612567
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Inflammatory abnormality of the skin, Sinusitis, Increased circulating IgE level, Recurrent pneum... ORPHA:277
Iga Pemphigus
Neutrophilic infiltration of the skin, Monoclonal elevation of circulating IgA, Increased circula... ORPHA:555905
Necrobiosis Lipoidica
Inflammatory abnormality of the skin, Squamous cell carcinoma ORPHA:542592
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Hypoalbuminemia, Acne, Seborrheic dermatitis OMIM:614441
Zinc Deficiency, Transient Neonatal
Eczema OMIM:608118
Sapho Syndrome
Psoriasiform dermatitis, Acne, Skin rash, Recurrent skin infections, Osteomyelitis, Pustule, Neop... ORPHA:793
Majeed Syndrome
Inflammatory abnormality of the skin, Osteomyelitis, Skin rash OMIM:609628
Yao Syndrome
Inflammatory abnormality of the skin, Pericarditis, Skin rash, Arthritis, Keratoconjunctivitis sicca OMIM:617321
Uremic Pruritus
Recurrent skin infections, Inflammatory abnormality of the skin, Abnormality of serum cytokine le... ORPHA:94059
Psoriasis-Related Juvenile Idiopathic Arthritis
Anterior uveitis, Psoriasiform dermatitis, Skin rash, Pruritus, Iridocyclitis, Oligoarthritis, Uv... ORPHA:85436
Centrifugal Lipodystrophy
Lymphadenitis, Inflammatory abnormality of the skin ORPHA:90156
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Inflammatory abnormality of the skin, Psoriasiform dermatitis, Recurrent skin infections, Eczema,... ORPHA:37042
Majeed Syndrome
Inflammatory abnormality of the skin, Osteomyelitis, Acne, Pustule, Synovitis, Abnormal inflammat... ORPHA:77297
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
Refractory Celiac Disease
Hypoproteinemia, Inflammatory abnormality of the skin, Lymphoma, Hypoalbuminemia ORPHA:398063
Melkersson-Rosenthal Syndrome
Inflammatory abnormality of the skin, Cheilitis ORPHA:2483
Malakoplakia
Inflammatory abnormality of the skin, Skin rash, Pruritus, Orchitis, Urinary bladder inflammation... ORPHA:556
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Inflammatory abnormality of the skin, Oropharyngeal squamous cell carcinoma, Eczema, Esophageal c... ORPHA:391487
Igg4-Related Kidney Disease
Elevated circulating C-reactive protein concentration, Lymphadenitis, Decreased retinol-binding p... ORPHA:449395

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 Klk6

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 Klk6.

There are 4 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Klk6em1(IMPC)Wtsi PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation. Nature immunology (December 2019) Klk6em1(IMPC)Wtsi PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Klk6em2Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Klk6em1Wtsi PMC6459510

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MGI Allele Allele Type Produced
Klk6tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Klk6em1(IMPC)Wtsi Deletion Mice
Klk6tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) ES Cells

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