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Gene: Blmh MGI:1345186

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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:
bleomycin hydrolase
Synonyms:
N/A

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 Blmh 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 Blmh by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Familial Reactive Perforating Collagenosis
Hyperkeratotic papule, Abnormal epidermal morphology, Inflammatory abnormality of the skin, Macul... ORPHA:79147
Ichthyosis, Congenital, Autosomal Recessive 14
Erythema, Orthokeratotic hyperkeratosis, Scaling skin, Pruritus, Hyperkeratosis OMIM:617571
Epidermolytic Hyperkeratosis 1
Palmoplantar hyperkeratosis, Epidermal acanthosis, Erythroderma, Scaling skin OMIM:113800
Krt1-Related Diffuse Nonepidermolytic Keratoderma
Atopic dermatitis, Erythema, Dry skin, Palmoplantar scaling skin, Diffuse palmoplantar hyperkerat... ORPHA:530838
Verrucous Hemangioma
Hyperkeratotic papule, Epidermal acanthosis, Inflammatory abnormality of the skin ORPHA:464318
Ichthyosis With Erythrokeratoderma
Erythema, Palmoplantar keratoderma, Diffuse palmoplantar hyperkeratosis, Parakeratosis, Erythrode... OMIM:620507
Peeling Skin Syndrome 5
Epidermal acanthosis, Hyperkeratosis, Scaling skin OMIM:617115
Psoriasis 2
Psoriasiform dermatitis, Parakeratosis, Scaling skin, Epidermal acanthosis, Hyperkeratosis OMIM:602723
Peeling Skin Syndrome 6
Atopic dermatitis, Orthokeratosis, Dry skin, Parakeratosis, Scaling skin, Pruritus OMIM:618084
Ichthyosis Hystrix, Curth-Macklin Type
Hyperkeratotic papule, Palmoplantar keratoderma, Scaling skin OMIM:146590
Erythrokeratodermia Variabilis Et Progressiva 1
Patchy palmoplantar hyperkeratosis, Epidermal acanthosis, Erythroderma, Generalized hyperkeratosis OMIM:133200
Acne Inversa, Familial, 3
Chronic furunculosis, Perifolliculitis, Acne inversa, Recurrent cutaneous abscess formation OMIM:613737
Hypotrichosis Simplex Of The Scalp
Allergic rhinitis, Atopic dermatitis, Parakeratosis, Scaling skin, Epidermal acanthosis, Pruritus... ORPHA:90368
Peeling Skin Syndrome 3
Erythema, White scaling skin, Pruritus OMIM:616265
Palmoplantar Keratoderma, Nagashima Type
Orthokeratotic hyperkeratosis, Epidermal acanthosis, Palmoplantar hyperkeratosis OMIM:615598
Ichthyosis, Congenital, Autosomal Recessive 6
Orthokeratosis, Palmoplantar keratoderma, Dry skin, Parakeratosis, Erythroderma, Scaling skin, Ep... OMIM:612281
Amyloidosis, Primary Localized Cutaneous, 1
Dry skin, Pruritus, Scaling skin OMIM:105250
Epidermolytic Hyperkeratosis 2A, Autosomal Dominant
Palmoplantar keratoderma, Generalized hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplant... OMIM:620150
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive
Epidermal acanthosis, Hyperkeratosis OMIM:615028
Dowling-Degos Disease 4
Epidermal acanthosis, Pruritus OMIM:615696
Ichthyosis, Congenital, Autosomal Recessive 7
Palmoplantar keratoderma, Epidermal acanthosis, Erythroderma OMIM:615022
Ichthyosis, Congenital, Autosomal Recessive 5
Orthokeratosis, Palmoplantar keratoderma, White scaling skin, Parakeratosis, Erythroderma, Epider... OMIM:604777
Keratosis Palmoplantaris Striata Ii
Epidermal acanthosis, Palmoplantar keratoderma OMIM:612908
Acral Peeling Skin Syndrome
Erythema, Excessive wrinkling of palmar skin, Eczematoid dermatitis, Scaling skin ORPHA:263534
Immunodeficiency 51
Pneumonia, Folliculitis, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Cutaneous absc... OMIM:613953
Idiopathic Localized Lipodystrophy
Pruritus, Scaling skin, Inflammatory abnormality of the skin, Erythema ORPHA:90158
Pemphigus Foliaceus
Erythema, Psoriasiform dermatitis, Crusting erythematous dermatitis, Pustule, Skin vesicle, Eryth... ORPHA:79481
Peeling Skin Syndrome 4
Orthokeratosis, Palmoplantar keratoderma, Scaling skin, Epidermal acanthosis, Hyperkeratosis OMIM:607936
Ulerythema Ophryogenesis
Hyperkeratotic papule, Dry skin, Facial erythema, Follicular hyperkeratosis, Contact dermatitis, ... ORPHA:3406
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Predominantly dermal neutrophilic infiltrate, Psoriasiform lesion, Superficial dermal perivascula... ORPHA:284426
Chronic Actinic Dermatitis
Allergic rhinitis, Eczematoid dermatitis, Erythroderma, Late onset atopic dermatitis, Epidermal a... ORPHA:330064
Mal De Meleda
Erythema, Inflammatory abnormality of the skin, Palmoplantar keratoderma, Superficial dermal peri... ORPHA:87503
Ichthyosis, Annular Epidermolytic, 2
Erythema, Orthokeratosis, Palmoplantar keratoderma, Palmoplantar hyperkeratosis, Scaling skin OMIM:620148
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads
Dry skin, Angular cheilitis, Epidermal acanthosis, Follicular hyperkeratosis, Punctate palmoplant... OMIM:616295
Seborrhea-Like Dermatitis With Psoriasiform Elements
Epidermal acanthosis, Seborrheic dermatitis, Hyperkeratosis OMIM:610227
Peeling Skin Syndrome 2
Erythema, Scaling skin OMIM:609796
Pityriasis Rubra Pilaris
Subungual hyperkeratosis, Palmoplantar keratoderma, Eczematoid dermatitis, Pustule, Erythroderma,... ORPHA:2897
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome
Generalized hyperkeratosis, Dry skin, Cutis laxa, Scaling skin, Epidermal acanthosis ORPHA:2269
Erythrokeratodermia Variabilis Et Progressiva 4
Erythema, Epidermal acanthosis, Palmoplantar hyperkeratosis, Hyperkeratosis OMIM:617526
Bathing Suit Ichthyosis
Parakeratosis, Palmoplantar hyperkeratosis, Erythroderma, Scaling skin, Epidermal acanthosis ORPHA:100976
Ichthyosis, Congenital, Autosomal Recessive 10
Palmoplantar keratoderma, Erythroderma, Orthokeratotic hyperkeratosis, Hyperkeratosis OMIM:615024
Ichthyosis Prematurity Syndrome
Allergic rhinitis, Follicular hyperkeratosis, Erythroderma, Epidermal acanthosis, Pruritus OMIM:608649
Elastosis Perforans Serpiginosa
Crusting erythematous dermatitis, Hyperkeratotic papule, Epidermal acanthosis, Cutis laxa ORPHA:79148
Bazex Syndrome
Palmoplantar keratoderma, Parakeratosis, Scaling skin, Pruritus, Hyperkeratosis ORPHA:166113
Atrophoderma Vermiculata
Hyperkeratotic papule, Abnormal epidermal morphology, Erythema, Follicular hyperkeratosis, Pruritus ORPHA:79100
Autosomal Dominant Epidermolytic Ichthyosis
Skin ulcer, Palmoplantar keratoderma, Erythroderma, Hyperkeratosis ORPHA:312
Intellectual Developmental Disorder, Fra12A Type
Erythroderma, Hyperkeratosis OMIM:136630
Ichthyosis Vulgaris
Absent keratohyalin granules, Dry skin, Eczematoid dermatitis OMIM:146700
Ichthyosis With Confetti
Palmoplantar hyperkeratosis, Pruritus, Erythroderma, Scaling skin OMIM:609165
Aicardi-Goutieres Syndrome 5
Dry skin, Chilblains, Scaling skin OMIM:612952
Keratoderma Hereditarium Mutilans With Ichthyosis
Orthokeratosis, Palmoplantar keratoderma, Honeycomb palmoplantar hyperkeratosis, Parakeratosis, P... ORPHA:79395
Ichthyosis, Congenital, Autosomal Recessive 12
White scaling skin OMIM:617320
Ichthyosis, Annular Epidermolytic, 1
Erythema, Orthokeratosis, Hyperparakeratosis, Palmoplantar hyperkeratosis, Scaling skin OMIM:607602
Peeling Skin Syndrome 1
Pruritus, Erythroderma, Scaling skin OMIM:270300
Congenital Disorder Of Glycosylation, Type If
Dry skin, Death in infancy, Erythroderma, Scaling skin, Hyperkeratosis OMIM:609180
Congenital Lethal Erythroderma
Dry skin, Congenital exfoliative erythroderma, Death in infancy ORPHA:1954
Acute Generalized Exanthematous Pustulosis
Pruritus, Predominantly dermal neutrophilic infiltrate, Pustule, Eosinophilic dermal infiltration... ORPHA:293173
Ichthyosis, Congenital, Autosomal Recessive 9
Orthokeratosis, Epidermal acanthosis, Erythroderma, Hyperkeratosis OMIM:615023
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Erythema, Dry skin, Death in childhood, Scaling skin, Hyperkeratosis OMIM:614457
Centrifugal Lipodystrophy
Erythema, Inflammatory abnormality of the skin, Lymphadenitis, Scaling skin ORPHA:90156
Immunodeficiency 58
Allergic rhinitis, Recurrent pneumonia, Bronchiectasis, Eczematoid dermatitis, Cutaneous abscess,... OMIM:618131
Erythroderma, Lethal Congenital
Congenital exfoliative erythroderma, Death in infancy OMIM:227090
Ichthyosis, Hystrix-Like, With Deafness
Palmoplantar keratoderma, Cobblestone-like hyperkeratosis, Punctate keratitis, Palmoplantar hyper... OMIM:602540
Benign Cephalic Histiocytosis
Inflammatory abnormality of the skin, Skin rash ORPHA:157997
Olmsted Syndrome, X-Linked
Subungual hyperkeratosis, Posterior blepharitis, Palmoplantar keratoderma, Parakeratosis, Palmopl... OMIM:300918
Acral Self-Healing Collodion Baby
Erythema, Palmoplantar scaling skin, Lack of skin elasticity ORPHA:281127
Cutaneous Mastocytoma
Pruritus, Scaling skin, Maculopapular exanthema, Erythema ORPHA:79455
Ichthyosis, Congenital, Autosomal Recessive 1
Parakeratosis, Palmoplantar hyperkeratosis, Epidermal acanthosis, Erythroderma OMIM:242300
Kerion Celsi
Inflammatory abnormality of the skin, Recurrent skin infections, Recurrent cutaneous abscess form... ORPHA:499
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Acne inversa, Chronic furunculosis, Follicular hyperkeratosis, Perifolliculitis, Recurrent cutane... OMIM:613736
Lamellar Ichthyosis
Dry skin, Lack of skin elasticity, Erythroderma, Pruritus, Hyperkeratosis, Chronic otitis media ORPHA:313
Epidermolytic Palmoplantar Keratoderma
Diffuse palmoplantar hyperkeratosis, Palmoplantar hyperkeratosis, Palmar hyperkeratosis, Epiderma... ORPHA:2199
Rat-Bite Fever
Lymphadenitis, Parotitis, Morbilliform rash, Skin rash, Pustule, Myocarditis, Oligoarthritis, Pan... ORPHA:31205
Subacute Cutaneous Lupus Erythematosus
Discoid lupus rash, Psoriasiform lesion, Malar rash, Cheilitis, Hyperkeratosis ORPHA:163525
Dermatitis, Atopic
Allergic rhinitis, Atopic dermatitis, Eczematoid dermatitis, Pruritus, Dry skin, Pallor, Facial e... OMIM:603165
Infantile Digital Fibromatosis
Parakeratosis, Epidermal acanthosis, Hyperkeratosis ORPHA:199267
Chilblain Lupus
Discoid lupus rash, Inflammatory abnormality of the skin, Skin ulcer, Malar rash, Skin rash, Prur... ORPHA:90280
Inflammatory Skin And Bowel Disease, Neonatal, 1
Blepharitis, Perioral erythema, Pustule, Erythroderma, Perianal erythema OMIM:614328
Pruritic Urticarial Papules And Plaques Of Pregnancy
Pruritus on foot, Eczematoid dermatitis, Pruritis on breast, Striae distensae, Parakeratosis, Pal... ORPHA:64745
Acute Radiation Syndrome
Inflammatory abnormality of the skin, Skin ulcer, Interstitial pneumonitis, Scaling skin, Hyperke... ORPHA:454831
Kid Syndrome
Folliculitis, Posterior blepharitis, Acne inversa, Keratitis, Palmoplantar keratoderma, Psoriasif... ORPHA:477
Olmsted Syndrome 2
Cheilitis, Palmoplantar keratoderma, Perioral hyperkeratosis, Parakeratosis, Palmoplantar hyperke... OMIM:619208
Acquired Ichthyosis
Erythema, Palmoplantar keratoderma, Dry skin, Recurrent skin infections, Pruritus, Hyperkeratosis ORPHA:454
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Palmoplantar keratoderma, Death in early adulthood, Palmoplantar scaling skin, Death in adolescen... OMIM:605676
Congenital Ichthyosiform Erythroderma
Palmoplantar keratoderma, Pruritus, Keratitis, Erythroderma ORPHA:79394
Graft Versus Host Disease
Pneumonia, Inflammatory abnormality of the skin, Fasciitis, Acute hepatitis, Chronic hepatitis, M... ORPHA:39812
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Palmoplantar keratoderma, Orthokeratosis, Psoriasiform dermatitis, Eosinophilic infiltration of t... OMIM:615508
White Sponge Nevus 2
Epidermal acanthosis, Hyperparakeratosis OMIM:615785
Bullous Diffuse Cutaneous Mastocytosis
Pruritus, Erythroderma ORPHA:280785
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Eczematoid dermatitis, Psoriasiform dermatitis, Erythroderma, Scaling skin, Thyroiditis, Chronic ... OMIM:606367
Ectodermal Dysplasia/Skin Fragility Syndrome
Palmoplantar hyperkeratosis, Scaling skin OMIM:604536
Bacterial Toxic-Shock Syndrome
Pneumonia, Hepatitis, Fasciitis, Osteomyelitis, Skin rash, Infectious encephalitis, Myositis, Myo... ORPHA:36234
Diffuse Cutaneous Mastocytosis
Pruritus, Erythroderma, Scaling skin ORPHA:79456
Vulvovaginal Gingival Syndrome
Parakeratosis, Epidermal acanthosis, Pruritus, Erythema ORPHA:83453
Netherton Syndrome
Allergic rhinitis, Eczematoid dermatitis, Chronic rhinitis, Parakeratosis, Erythroderma, Recurren... OMIM:256500
Sézary Syndrome
Dry skin, Palmoplantar keratoderma, Pruritus, Erythroderma ORPHA:3162
Neonatal Inflammatory Skin And Bowel Disease
Erythema, Blepharitis, Chapped lip, Psoriasiform dermatitis, Pustule, Scaling skin, Recurrent bac... ORPHA:294023
Elastoderma
Cutis laxa, Eczematoid dermatitis, Erysipelas, Premature skin wrinkling ORPHA:228240
Erythema Nodosum, Familial
Erythema, Erythema nodosum OMIM:132990
Drug Reaction With Eosinophilia And Systemic Symptoms
Erythema, Hepatitis, Interstitial pneumonitis, Skin rash, Infectious encephalitis, Pustule, Eryth... ORPHA:139402
Acrokeratosis Verruciformis
Acantholysis, Epidermal acanthosis, Hyperkeratosis, Punctate palmoplantar hyperkeratosis OMIM:101900
Erythrokeratodermia Variabilis Et Progressiva 3
Erythema, Orthokeratosis, Palmoplantar keratoderma, Epidermal acanthosis, Hyperkeratosis OMIM:617525
Ichthyosis, Congenital, Autosomal Recessive 8
Erythema, Epidermal acanthosis, Orthokeratosis, Hyperkeratosis OMIM:613943
Palmoplantar Keratoderma, Punctate Type Ia
Epidermal acanthosis, Orthokeratosis, Punctate palmoplantar hyperkeratosis OMIM:148600
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Pneumonia, Inflammation of the large intestine, Recurrent pneumonia, Recurren... OMIM:614700
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse
Palmoplantar keratoderma, Orthokeratotic hyperkeratosis, Palmoplantar hyperkeratosis, Epidermal a... OMIM:148700
Psoriasis 14, Pustular
Erythema, Psoriasiform dermatitis, Pustule, Parakeratosis, Oligoarthritis, Cholangitis, Epidermal... OMIM:614204
Mpdu1-Cdg
Eczematoid dermatitis, Scaling skin ORPHA:79323
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Dry skin, Palmoplantar keratoderma, Scaling skin OMIM:618373
Pressure-Induced Localized Lipoatrophy
Erythema, Inflammatory abnormality of the skin ORPHA:90160
Netherton Syndrome
Skin rash, Dry skin, Erythroderma, Eczematoid dermatitis ORPHA:634
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse
Plantar hyperkeratosis, Epidermal acanthosis, Palmoplantar keratoderma OMIM:615735
Spinocerebellar Ataxia 34
Erythroderma, Epidermal hyperkeratosis OMIM:133190
Psoriasis-Related Juvenile Idiopathic Arthritis
Uveitis, Sacroiliac arthritis, Psoriasiform dermatitis, Malar rash, Skin rash, Psoriasiform lesio... ORPHA:85436
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Pneumonia, Recurrent pneumonia, Hepatitis, Otitis media, Erythroderma, Chronic oral candidiasis ORPHA:169160
Cole Disease
Hyperkeratotic papule, Orthokeratosis, Palmoplantar keratoderma, Punctate palmoplantar hyperkerat... OMIM:615522
Omenn Syndrome
Pneumonia, Dry skin, Erythroderma, Pruritus, Thyroiditis ORPHA:39041
Ectodermal Dysplasia-Skin Fragility Syndrome
Recurrent pneumonia, Palmoplantar keratoderma, Chapped lip, Recurrent skin infections, Follicular... ORPHA:158668
Harlequin Ichthyosis
Erythroderma, Hyperkeratosis ORPHA:457
Familial Hemophagocytic Lymphohistiocytosis
Skin rash, Petechiae, Infectious encephalitis, Ecchymosis, Erythroderma, Colitis, Maculopapular e... ORPHA:540
Candidiasis, Familial, 8
Cheilitis, Seborrheic dermatitis, Blepharitis, Chronic oral candidiasis OMIM:615527
X-Linked Dominant Chondrodysplasia Punctata
Erythroderma, Scaling skin ORPHA:35173
Acrokeratoelastoidosis Of Costa
Hyperkeratotic papule, Palmoplantar hyperkeratosis, Epidermal acanthosis, Orthokeratosis ORPHA:38
Singleton-Merten Syndrome 2
Psoriasiform lesion, Hyperkeratosis OMIM:616298
Epidermodysplasia Verruciformis
Pustule, Seborrheic dermatitis, Recurrent skin infections ORPHA:302
Inflammatory Skin And Bowel Disease, Neonatal, 2
Pustule, Recurrent pneumonia, Epidermal acanthosis OMIM:616069
Lipoid Proteinosis Of Urbach And Wiethe
Reduced epidermal extracellular matrix protein 1 protein expression, Hyperkeratosis OMIM:247100
Porphyria Cutanea Tarda
Cutaneous abscess, Scaling skin, Chronic hepatitis, Recurrent bacterial skin infections, Viral he... ORPHA:101330
Alopecia-Intellectual Disability Syndrome 4
Erythroderma OMIM:618840
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Erythema, Eczematoid dermatitis, Redundant skin, Seborrheic dermatitis, Palmoplantar hyperkeratos... OMIM:259100
Basan Syndrome
Epidermal acanthosis, Palmoplantar keratoderma OMIM:129200
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Psoriasiform lesion, Erythroderma ORPHA:169154
Recon Progeroid Syndrome
Dry skin, Keratoconjunctivitis sicca, Scaling skin OMIM:620370
Trichothiodystrophy 1, Photosensitive
Dry skin, Death in infancy, Keratoconjunctivitis sicca, Erythroderma, Hyperkeratosis OMIM:601675
Acrokeratosis Verruciformis Of Hopf
Epidermal acanthosis, Hyperkeratosis, Punctate palmoplantar hyperkeratosis ORPHA:79151
Immunodeficiency 85 And Autoimmunity
Oligoarthritis, Erythroderma, Eczematoid dermatitis OMIM:619510
Congenital Syphilis
Pneumonia, Keratitis, Palmoplantar scaling skin, Petechiae, Synovitis, Pancreatitis, Myocarditis,... ORPHA:499009
Panniculitis-Induced Localized Lipodystrophy
Erythema, Inflammatory abnormality of the skin ORPHA:90159
Proteus Syndrome
Epidermal acanthosis, Hyperkeratosis OMIM:176920
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Hepatitis, Eczematoid dermatitis, Erythroderma, Glomerulonephritis, Arthritis OMIM:304790
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Conjunctivitis, Palmoplantar keratoderma, Erythroderma OMIM:242150
Erythroderma Desquamativum
Seborrheic dermatitis ORPHA:314
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Folliculitis, Palmoplantar keratoderma, Keratitis, Dry skin, Facial erythema, Follicular hyperker... OMIM:308800
Iga Pemphigus
Cutaneous abscess, Neutrophilic infiltration of the skin, Pustule, Skin vesicle, Acantholysis, Pr... ORPHA:555905
Generalized Pustular Psoriasis
Palmoplantar pustulosis, Pustule, Erythroderma, Arthritis, Cheilitis, Uveitis ORPHA:247353
Immunodeficiency 25
Recurrent pneumonia, Erythroderma OMIM:610163
Riddle Syndrome
Pneumonia, Erythema, Recurrent pneumonia, Otitis media, Recurrent sinusitis, Chronic sinusitis, A... ORPHA:420741
Agammaglobulinemia 9, Autosomal Recessive
Seborrheic dermatitis, Eczematoid dermatitis OMIM:619693
Palmoplantar Carcinoma, Multiple Self-Healing
Palmoplantar keratoderma, Chronic rhinitis, Parakeratosis, Follicular hyperkeratosis, Epidermal a... OMIM:615225
Autoinflammation With Arthritis And Dyskeratosis
Dry skin, Punctate keratitis, Keratoconjunctivitis sicca, Follicular hyperkeratosis, Palmoplantar... OMIM:617388
Letterer-Siwe Disease
Seborrheic dermatitis, Stomatitis, Pallor OMIM:246400
Familial Benign Chronic Pemphigus
Erythema, Acantholysis, Hyperkeratosis, Skin vesicle ORPHA:2841
Interstitial Granulomatous Dermatitis With Arthritis
Inflammatory abnormality of the skin, Pruritus, Rheumatoid arthritis, Erythema ORPHA:79099
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Subungual hyperkeratosis, Keratitis, Eczematoid dermatitis, Dry skin, Death in childhood, Death i... OMIM:308205
Hypotrichosis And Recurrent Skin Vesicles
Angular cheilitis, Epidermal acanthosis, Follicular hyperkeratosis, Skin vesicle OMIM:613102
Complement Component 5 Deficiency
Generalized seborrheic dermatitis OMIM:609536
Phoar2-Enteropathy Syndrome
Seborrheic dermatitis, Acne OMIM:614441
Epidermodysplasia Verruciformis, Susceptibility To, 3
Epidermal acanthosis OMIM:618267
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteomyelitis, Skin rash, Pustule, Hyperkeratosis, Epidermal acanthosis, Stomatitis OMIM:612852
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Dry skin, Facial erythema, Palmoplantar keratoderma, Scaling skin ORPHA:1010
Ectodermal Dysplasia/Short Stature Syndrome
Epidermal acanthosis, Palmoplantar keratoderma, Hyperkeratosis OMIM:616029
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Skin ulcer, Erysipelas, Dry skin, Scaling skin, Panniculitis ORPHA:2526
Copper Deficiency, Familial Benign
Seborrheic dermatitis OMIM:121270
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Erythroderma, Death in infancy OMIM:617425
Woolly Hair-Skin Fragility Syndrome
Acantholysis, Palmoplantar keratoderma OMIM:620415
Pachydermoperiostosis
Palmoplantar keratoderma, Eczematoid dermatitis, Osteomyelitis, Seborrheic dermatitis, Arthritis,... ORPHA:2796
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Inflammation of the large intestine, Eczematoid dermatitis, Lymphadenitis, Erythroderma OMIM:615895
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Orthokeratosis, Dry skin, Sclerosing cholangitis, Parakeratosis, Epidermal acanthosis, Pruritus OMIM:607626
Biotinidase Deficiency
Conjunctivitis, Recurrent skin infections, Skin rash, Seborrheic dermatitis OMIM:253260
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Eczematoid dermatitis, Pallor, Colitis, Erythroderma, Pancr... ORPHA:3260
Huriez Syndrome
Epidermal acanthosis, Congenital palmoplantar hyperkeratosis OMIM:181600
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant
Seborrheic dermatitis, Acne OMIM:167100
Myoectodermal Gonadal Dysgenesis Syndrome
Dry skin, Scaling skin OMIM:618419
Kawasaki Disease
Hepatitis, Skin rash, Cholecystitis, Palmoplantar erythema, Arthritis, Scaling skin on fingertip,... ORPHA:2331
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Parakeratosis, Epidermal acanthosis, Hyperkeratosis, Dry skin OMIM:618527
Punctate Palmoplantar Keratoderma Type 1
Hyperkeratotic papule, Abnormal epidermal morphology, Orthokeratosis, Palmoplantar keratoderma, P... ORPHA:79501
Focal Facial Dermal Dysplasia Type Iv
Abnormal epidermal morphology ORPHA:398189
Superficial Epidermolytic Ichthyosis
Erythema, Acantholysis, Palmoplantar keratoderma ORPHA:455
Ichthyosis, Congenital, Autosomal Recessive 2
Erythema, Palmoplantar keratoderma, Epidermal acanthosis, Hyperkeratosis OMIM:242100
Restrictive Dermopathy 1
Scaling skin, Stillbirth, Epidermal hyperkeratosis, Neonatal death OMIM:275210
Omenn Syndrome
Pneumonia, Erythroderma OMIM:603554
Chondrodysplasia Punctata 2, X-Linked Dominant
Erythroderma OMIM:302960
Trichothiodystrophy
Eczematoid dermatitis, Dry skin, Congenital exfoliative erythroderma, Keratoconjunctivitis sicca,... ORPHA:33364
Parkes Weber Syndrome
Skin ulcer, Scaling skin ORPHA:90307
Odontoonychodermal Dysplasia
Erythema, Orthokeratosis, Dry skin, Palmoplantar erythema, Palmoplantar hyperkeratosis, Follicula... OMIM:257980
Transketolase Deficiency
Conjunctivitis, Seborrheic dermatitis, Uveitis ORPHA:488618
Congenital Disorder Of Glycosylation, Type Im
Dry skin, Inflammatory abnormality of the skin, Hyperkeratosis, Death in infancy OMIM:610768
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Atopic dermatitis, Erythema, Recurrent otitis media, Dry skin, Cutis laxa, Facial erythema, Scali... OMIM:619503
Restrictive Dermopathy
Dermal translucency, Scaling skin, Epidermal hyperkeratosis, Generalized hyperkeratosis ORPHA:1662
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Eczematoid dermatitis, Superficial dermal perivascular inflammatory infiltrate, Parakeratosis, Se... ORPHA:83617
Naxos Disease
Subungual hyperkeratosis, Palmoplantar keratoderma, Diffuse palmoplantar hyperkeratosis, Epiderma... OMIM:601214
Hemihyperplasia-Multiple Lipomatosis Syndrome
Seborrheic dermatitis, Hyperparakeratosis ORPHA:276280
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Seborrheic dermatitis OMIM:210210
Uremic Pruritus
Pruritus, Inflammatory abnormality of the skin, Recurrent skin infections, Dry skin ORPHA:94059
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Seborrheic dermatitis, Eczematoid dermatitis ORPHA:369950
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Erythema, Orthokeratosis, Parakeratosis, Stillbirth, Epidermal acanthosis, Hyperkeratosis OMIM:308050
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Seborrheic dermatitis, Aspiration pneumonia OMIM:301072
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Seborrheic dermatitis, Death in infancy OMIM:300868
Monosomy 22
Seborrheic dermatitis ORPHA:96123
22Q11.2 Deletion Syndrome
Acne, Seborrheic dermatitis, Arthritis, Purpura, Chronic otitis media ORPHA:567
Woodhouse-Sakati Syndrome
Scaling skin ORPHA:3464
Thrombocytopenia-Absent Radius Syndrome
Seborrheic dermatitis, Death in infancy OMIM:274000
Pseudoxanthoma Elasticum
Cutis laxa, Civatte bodies OMIM:264800
Digeorge Syndrome
Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Seborrheic dermatitis, Acne OMIM:188400

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 Blmh

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 Blmh.

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

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
Blmhtm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Blmhtm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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