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Gene: Elovl1 MGI:1858959

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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:
elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 1
Synonyms:
Ssc1

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 Elovl1 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.

The table below shows human diseases associated to Elovl1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Xerostomia, Hyperkeratosis, Parakeratosis, Dry skin OMIM:618527

The table below shows human diseases predicted to be associated to Elovl1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Ulerythema Ophryogenesis
Facial erythema, Hyperkeratotic papule, Miscarriage, Contact dermatitis, Follicular hyperkeratosi... ORPHA:3406
Non-Epidermolytic Palmoplantar Keratoderma
Diffuse palmoplantar hyperkeratosis, Pruritus, Skin ulcer, Erythema ORPHA:2337
Ichthyosis, Congenital, Autosomal Recessive 14
Orthokeratotic hyperkeratosis, Scaling skin, Hyperkeratosis, Erythema, Pruritus OMIM:617571
Vibratory Urticaria
Facial erythema, Urticaria, Flushing OMIM:125630
Progressive Symmetric Erythrokeratodermia
Palmoplantar keratoderma, Erythema ORPHA:316
Jessner Lymphocytic Infiltration Of The Skin
Cutaneous photosensitivity, Pruritus, Erythema ORPHA:33314
Acquired Ichthyosis
Pruritus, Hyperkeratosis, Erythema, Recurrent skin infections, Palmoplantar keratoderma, Dry skin ORPHA:454
Mastocytosis, Cutaneous
Telangiectasia macularis eruptiva perstans, Edema, Erythema, Urticaria OMIM:154800
Cutaneous Collagenous Vasculopathy
Prominent superficial blood vessels, Petechiae, Skin rash, Bruising susceptibility, Erythema, Vas... ORPHA:280779
Krt1-Related Diffuse Nonepidermolytic Keratoderma
Palmoplantar scaling skin, Scaling skin, Nonepidermolytic palmoplantar hyperkeratosis, Dry skin, ... ORPHA:530838
Cutaneous Photosensitivity And Colitis, Lethal
Early cutaneous photosensitivity, Erythema, Death in infancy OMIM:219095
Erythrokeratodermia Variabilis Et Progressiva 4
Hyperkeratosis, Palmoplantar hyperkeratosis, Erythema OMIM:617526
Erythrokeratodermia Variabilis Et Progressiva 3
Palmoplantar keratoderma, Hyperkeratosis, Erythema OMIM:617525
Erythema Nodosum, Familial
Erythema, Erythema nodosum OMIM:132990
Pruritic Urticarial Papules And Plaques Of Pregnancy
Facial erythema, Pruritis on hand, Palmoplantar erythema, Striae distensae, Skin vesicle, Pruritu... ORPHA:64745
Mal De Meleda
Inflammatory abnormality of the skin, Nonepidermolytic palmoplantar hyperkeratosis, Superficial d... ORPHA:87503
Ichthyosis, Annular Epidermolytic, 1
Palmoplantar hyperkeratosis, Erythema OMIM:607602
Erythrokeratodermia Variabilis Et Progressiva 2
Palmoplantar keratoderma, Erythema OMIM:617524
Erosive Pustular Dermatosis Of The Scalp
Pustule, Erythema ORPHA:222
Protoporphyria, Erythropoietic, 1
Eczema, Edema, Erythema, Pruritus, Hypertriglyceridemia OMIM:177000
Pressure-Induced Localized Lipoatrophy
Reduced subcutaneous adipose tissue, Erythema, Inflammatory abnormality of the skin ORPHA:90160
Quinquaud Folliculitis Decalvans
Pustule, Erythema, Recurrent skin infections ORPHA:346
Angioma Serpiginosum
Vascular skin abnormality, Erythema ORPHA:95429
Atrophoderma Vermiculata
Pruritus, Hyperkeratotic papule, Follicular hyperkeratosis, Erythema ORPHA:79100
Cutaneous Small Vessel Vasculitis
Skin rash, Purpura, Cutis marmorata, Erythema, Recurrent skin infections, Urticaria ORPHA:889
Acral Self-Healing Collodion Baby
Lack of skin elasticity, Edema of the dorsum of hands, Edema of the dorsum of feet, Palmoplantar ... ORPHA:281127
Platelet-Activating Factor Acetylhydrolase Deficiency
Increased level of platelet-activating factor OMIM:614278
Panniculitis-Induced Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Vasculitis in the skin, Erythema, Inflammatory abnormality o... ORPHA:90159
Classic Mycosis Fungoides
Skin rash, Skin ulcer, Eczema, Edema, Hyperkeratosis, Erythema, Pruritus, Dry skin ORPHA:2584
Orthostatic Hypotensive Disorder, Streeten Type
Facial erythema, Bruising susceptibility OMIM:143850
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Pruritus, Palpebral edema, Erythema, Pharyngeal edema, Laryngeal edema, Tongue edema, Angioedema,... ORPHA:100057
Dermatitis, Atopic
Facial erythema, Eczema, Pallor, Dry skin, Recurrent skin infections, Pruritus, Atopic dermatitis OMIM:603165
Keratolytic Winter Erythema
Pustule, Erythema ORPHA:50943
Autosomal Erythropoietic Protoporphyria
Abnormal circulating porphyrin concentration, Cutaneous photosensitivity, Eczema, Edema, Erythema... ORPHA:79278
Palmoplantar Keratoderma And Congenital Alopecia 2
Facial erythema, Hyperkeratosis, Palmoplantar hyperkeratosis, Dry skin OMIM:212360
Idiopathic Localized Lipodystrophy
Inflammatory abnormality of the skin, Reduced subcutaneous adipose tissue, Scaling skin, Erythema... ORPHA:90158
Maculopapular Cutaneous Mastocytosis
Darier's sign, Dermatographic urticaria, Flushing, Erythema, Pruritus, Generalized abnormality of... ORPHA:79457
Keratolytic Winter Erythema
Erythema OMIM:148370
Erythema Of Acral Regions
Erythema OMIM:227000
Cutaneous Mastocytoma
Telangiectasia macularis eruptiva perstans, Angioedema, Darier's sign, Peau d'orange, Dermatograp... ORPHA:79455
Granulomatous Slack Skin
Erythema, Redundant skin, Hypercalcemia, Cutis laxa ORPHA:33111
Epidermolysis Bullosa Simplex 2E, With Migratory Circinate Erythema
Erythema migrans OMIM:609352
Erythema Palmare Hereditarium
Erythema OMIM:133000
Benign Chronic Pemphigus
Erythema OMIM:169600
Annular Erythema
Erythema OMIM:106500
Acral Peeling Skin Syndrome
Scaling skin, Excessive wrinkling of palmar skin, Eczema, Erythema ORPHA:263534
Hypotrichosis 6
Pruritus, Follicular hyperkeratosis, Erythema OMIM:607903
Bullous Impetigo
Pustule, Recurrent bacterial skin infections, Erythema ORPHA:36237
Erythrokeratodermia Variabilis
Cutaneous photosensitivity, Skin rash, Erythema, Hyperkeratosis, Patchy palmoplantar hyperkeratos... ORPHA:317
Interstitial Granulomatous Dermatitis With Arthritis
Pruritus, Elevated circulating C-reactive protein concentration, Erythema, Inflammatory abnormali... ORPHA:79099
Dermatofibrosarcoma Protuberans
Skin ulcer, Erythema ORPHA:31112
Peeling Skin Syndrome 2
Scaling skin, Erythema OMIM:609796
Mal De Meleda
Congenital symmetrical palmoplantar keratosis, Perioral erythema OMIM:248300
Drug-Induced Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Erythema ORPHA:90157
Primary Erythromelalgia
Pruritus, Erythema ORPHA:90026
Dermatitis Herpetiformis
Skin vesicle, Eczema, Edema, Erythema, Pruritus, Urticaria ORPHA:1656
Sjögren-Larsson Syndrome
Hyperkeratosis, Dry skin, Erythema, Urticaria ORPHA:816
Mycosis Fungoides
Psoriasiform dermatitis, Pruritus, Eczema, Erythema OMIM:254400
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Skin vesicle, Erythema migrans, Palmoplantar hyperkeratosis, Parakeratosis, Skin fragility with n... ORPHA:158681
Vulvovaginal Gingival Syndrome
Parakeratosis, Pruritus, Erythema ORPHA:83453
Keratosis Pilaris Atrophicans
Erythema OMIM:604093
Necrobiosis Lipoidica
Inflammatory abnormality of the skin, Skin ulcer, Fragile skin, Erythema, Telangiectasia of the skin ORPHA:542592
Superficial Epidermolytic Ichthyosis
Acantholysis, Edema, Palmoplantar keratoderma, Erythema ORPHA:455
Familial Cold Autoinflammatory Syndrome 3
Pruritus, Dermatographic urticaria, Erythema, Angioedema, Cold urticaria OMIM:614468
Familial Benign Chronic Pemphigus
Acantholysis, Skin vesicle, Hyperkeratosis, Erythema ORPHA:2841
Familial Cold Urticaria
Pruritus, Urticaria, Erythema, Dehydration ORPHA:47045
Pemphigus Foliaceus
Skin vesicle, Pruritus, Crusting erythematous dermatitis, Scaling skin, Pustule, Erythema, Erythr... ORPHA:79481
Bullous Pemphigoid
Psoriasiform dermatitis, Eczema, Erythema, Urticaria ORPHA:703
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Cutaneous photosensitivity, Telangiectasia, Crusting erythematous dermatitis, Palmoplantar hyperk... ORPHA:158673
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Pruritus, Parakeratosis, Hyperkeratosis, Erythema, Palmoplantar keratoderma OMIM:615821
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Scaling skin, Erythema, Hyperkeratosis, Death in childhood, Dry skin OMIM:614457
Centrifugal Lipodystrophy
Inflammatory abnormality of the skin, Reduced subcutaneous adipose tissue, Scaling skin, Lack of ... ORPHA:90156
Ichthyosis, Congenital, Autosomal Recessive 8
Hyperkeratosis, Erythema, Orthokeratosis OMIM:613943
Sydenham Chorea
Erythema ORPHA:306731
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Skin rash, Cutaneous abscess, Chronic mucocutaneous candidiasis, Erythema, Eczematoid dermatitis OMIM:147060
Neutrophilic Dermatosis, Acute Febrile
Pyoderma gangrenosum, Acne inversa, Cystic acne, Elevated circulating C-reactive protein concentr... OMIM:608068
Psoriasis 14, Pustular
Parakeratosis, Pustule, Elevated circulating C-reactive protein concentration, Erythema, Psoriasi... OMIM:614204
Polyarteritis Nodosa
Cutis marmorata, Skin ulcer, Elevated circulating C-reactive protein concentration, Erythema ORPHA:767
Mitochondrial Complex I Deficiency, Nuclear Type 30
Redundant skin, Neonatal death, Intrauterine growth retardation OMIM:301021
Complex Regional Pain Syndrome
Pedal edema, Edema of the upper limbs, Dry skin, Erythema ORPHA:83452
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Facial erythema, Folliculitis, Palmoplantar keratoderma, Follicular hyperkeratosis, Dry skin OMIM:308800
Rosaï-Dorfman Disease
Erythema ORPHA:158014
Glutamine Deficiency, Congenital
Hypoglutaminemia, Hyperammonemia, Neonatal death, Erythema OMIM:610015
Transgrediens Et Progrediens Palmoplantar Keratoderma
Facial erythema, Recurrent bacterial skin infections, Recurrent cutaneous fungal infections, Plan... ORPHA:495
Palmoplantar Keratoderma And Congenital Alopecia 1
Palmoplantar keratoderma, Palmoplantar erythema, Epidermal hyperkeratosis, Plantar hyperkeratosis OMIM:104100
Congenital Lethal Erythroderma
Death in infancy, Urticaria, Dry skin, Congenital exfoliative erythroderma, Hypoalbuminemia ORPHA:1954
Skin Fragility-Woolly Hair Syndrome
Palmoplantar erythema, Palmoplantar hyperkeratosis, Palmoplantar scaling skin, Fragile skin, Acan... OMIM:607655
Adult-Onset Still Disease
Abnormal circulating lipid concentration, Skin rash, Joint swelling, Erythema, Elevated circulati... ORPHA:829
Inflammatory Skin And Bowel Disease, Neonatal, 1
Pustule, Perianal erythema, Perioral erythema, Erythroderma OMIM:614328
Snakebite Envenomation
Ecchymosis, Edema, Erythema, Hyponatremia, Angioedema ORPHA:449285
Prolidase Deficiency
Cutaneous photosensitivity, Crusting erythematous dermatitis, Skin ulcer, Palmoplantar keratoderm... ORPHA:742
Oral Erosive Lichen
Dry skin, Erythema ORPHA:31142
Sting-Associated Vasculopathy, Infantile-Onset
Malar rash, Telangiectasia, Skin rash, Cutis marmorata, Livedo reticularis, Pustule, Pustular ras... OMIM:615934
Ichthyosis, Congenital, Autosomal Recessive 3
Palmoplantar keratoderma, Hyperkeratosis, Erythema OMIM:606545
Fixed Drug Eruption
Generalized abnormality of skin, Erythema, Crusting erythematous dermatitis ORPHA:293812
Rare Cutaneous Lupus Erythematosus
Malar rash, Cutaneous photosensitivity, Urticaria, Nail bed telangiectasia, Crusting erythematous... ORPHA:535
Subcorneal Pustular Dermatosis
Pustule, Pruritus, Erythema ORPHA:48377
Mednik Syndrome
Death in infancy, Increased circulating very long-chain fatty acid concentration, Erythema, Neona... OMIM:609313
Mitochondrial Complex I Deficiency, Nuclear Type 35
Hyperalaninemia, Nonimmune hydrops fetalis, Redundant neck skin, Hyperprolinemia, Neonatal death,... OMIM:619003
Juvenile Dermatomyositis
Cutaneous photosensitivity, Mucosal telangiectasiae, Calcinosis, Skin rash, Skin ulcer, Elevated ... ORPHA:93672
Angioedema, Hereditary, 1
Intestinal edema, Periorbital edema, Erythema, Pharyngeal edema, Laryngeal edema, Angioedema OMIM:106100
Pituitary Adenoma 4, Acth-Secreting
Facial erythema, Striae distensae, Hypokalemia, Purpura, Bruising susceptibility, Ecchymosis, Ede... OMIM:219090
Chronic Mucocutaneous Candidiasis
Skin rash, Skin ulcer, Hyperkeratosis, Erythema, Pruritus ORPHA:1334
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Palmoplantar hyperkeratosis, Flushing, Redundant skin, Erythema, Eczematoid dermatitis, Seborrhei... OMIM:259100
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Facial erythema, Palmoplantar keratoderma, Folliculitis OMIM:612843
Immunoglobulin A Vasculitis
Skin rash, Skin ulcer, Purpura, Bruising susceptibility, Edema, Pustule, Erythema, Vascular skin ... ORPHA:761
Kcnq2-Related Epileptic Encephalopathy
Facial erythema, Cerebral edema, Pallor ORPHA:439218
Tempi Syndrome
Facial erythema, Ascites, Telangiectasia, Transudative pleural effusion ORPHA:284227
Rhizomelic Chondrodysplasia Punctata, Type 2
Decreased circulating plasmalogen concentration OMIM:222765
Xeroderma Pigmentosum, Complementation Group F
Cutaneous photosensitivity, Erythema OMIM:278760
Sunct Syndrome
Facial erythema, Palpebral edema, Flushing, Facial edema ORPHA:57145
Epidermodysplasia Verruciformis, Susceptibility To, 4
Facial erythema OMIM:618307
Hyperimmunoglobulinemia D With Periodic Fever
Acrocyanosis, Purpura, Erythema, Urticaria ORPHA:343
Ichthyosis, Congenital, Autosomal Recessive 2
Palmoplantar keratoderma, Hyperkeratosis, Erythema OMIM:242100
Peeling Skin Syndrome 6
Orthokeratosis, Parakeratosis, Scaling skin, Dry skin, Pruritus, Atopic dermatitis OMIM:618084
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Palmoplantar keratoderma, Skin ulcer, Erythema ORPHA:659
Aicardi-Goutieres Syndrome 1
Petechiae, Chilblains, Acrocyanosis, Purpura, Erythema, Prolonged neonatal jaundice OMIM:225750
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Decreased serum zinc, Perianal erythema, Dry skin, Perioral erythema OMIM:201100
Odontoonychodermal Dysplasia
Palmoplantar erythema, Orthokeratosis, Palmoplantar hyperkeratosis, Plantar hyperkeratosis, Eryth... OMIM:257980
Fountain Syndrome
Cutis marmorata, Erythema, Facial edema ORPHA:3219
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Mild intrauterine growth retardation, Orthokeratosis, Elevated 8(9)-cholestenol, Parakeratosis, E... OMIM:308050
Microscopic Polyangiitis
Subcutaneous hemorrhage, Skin rash, Skin ulcer, Cutis marmorata, Erythema ORPHA:727
Nodular Non-Suppurative Panniculitis
Edema, Erythema ORPHA:33577
Neonatal Inflammatory Skin And Bowel Disease
Recurrent bacterial skin infections, Pustule, Scaling skin, Erythema, Generalized abnormality of ... ORPHA:294023
Drug Reaction With Eosinophilia And Systemic Symptoms
Skin rash, Pustule, Erythema, Erythroderma, Angioedema ORPHA:139402
Proteasome-Associated Autoinflammatory Syndrome 4
Edema, Erythema OMIM:619183
Acrodermatitis Enteropathica
Skin ulcer, Pustule, Dry skin, Erythema, Generalized abnormality of skin ORPHA:37
Hennekam-Beemer Syndrome
Skin vesicle, Erythema, Telangiectasia of the skin, Pruritus, Urticaria ORPHA:2135
Pearson Marrow-Pancreas Syndrome
Hydrops fetalis, Hyperbilirubinemia, Steatorrhea, Pallor, Erythema, Dehydration, Death in childhood OMIM:557000
Lig4 Syndrome
Cutaneous photosensitivity, Erythema, Telangiectasia of the skin ORPHA:99812
Rheumatic Fever
Erythema, Pallor ORPHA:3099
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Skin rash, Cerebral edema, Death in childhood, Erythema OMIM:618321
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Erythema OMIM:614878
Chikungunya
Pedal edema, Skin vesicle, Cutaneous photosensitivity, Petechiae, Crusting erythematous dermatiti... ORPHA:324625
Immunodeficiency 23
Vasculitis in the skin, Chronic mucocutaneous candidiasis, Eczema, Erythema, Molluscum contagiosum OMIM:615816
Hereditary Acrokeratotic Poikiloderma
Skin ulcer, Eczema, Palmoplantar hyperkeratosis, Pustule, Xerostomia, Erythema, Telangiectasia of... ORPHA:2907
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Fragile skin, Erythema, Recurrent skin infections, Palmoplantar keratoderma, Generalized abnormal... ORPHA:79396
Gcgr-Related Hyperglucagonemia
Necrolytic migratory erythema ORPHA:438274
Vipoma
Intermittent jaundice, Increased circulating cortisol level, Hypokalemia, Hypercalcemia, Erythema... ORPHA:97282
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Skin rash, Bruising susceptibility, Erysipelas, Elevated circulating C-reactive protein concentra... ORPHA:32960
Familial Tumoral Calcinosis
Skin rash, Erythema ORPHA:53715
Riddle Syndrome
Telangiectasia, Elevated circulating alpha-fetoprotein concentration, Scaling skin, Conjunctival ... ORPHA:420741
Ifap Syndrome 2
Perioral erythema OMIM:619016
Incontinentia Pigmenti
Skin rash, Skin ulcer, Erythema, Telangiectasia of the skin, Hyperkeratosis ORPHA:464
Dermatomyositis
Cutaneous photosensitivity, Telangiectasia of the skin, Skin ulcer, Acrocyanosis, Edema, Erythema... ORPHA:221
Glucagonoma
Intermittent jaundice, Increased circulating cortisol level, Skin rash, Steatorrhea, Hypercalcemi... ORPHA:97280
Incontinentia Pigmenti
Hyperkeratosis, Maculopapular exanthema, Erythema, Pallor OMIM:308300
Xeroderma Pigmentosum
Cutaneous photosensitivity, Telangiectasia, Conjunctival telangiectasia, Erythema, Telangiectasia... ORPHA:910
Autosomal Dominant Cerebellar Ataxia
Hyperkeratosis, Erythema ORPHA:99
Bloom Syndrome
Facial erythema, Malar rash, Cutaneous photosensitivity, Facial telangiectasia in butterfly midfa... OMIM:210900
Kikuchi-Fujimoto Disease
Malar rash, Cutaneous photosensitivity, Skin rash, Vasculitis in the skin, Pleural effusion, Pust... ORPHA:50918
Behcet Syndrome
Erythema, Erythema nodosum OMIM:109650
Corneodermatoosseous Syndrome
Palmoplantar keratoderma, Erythema ORPHA:3194
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Facial erythema, Scaling skin, Palmoplantar keratoderma, Poor wound healing, Dry skin ORPHA:1010
Rothmund-Thomson Syndrome Type 2
Facial erythema, Calcinosis, Plantar hyperkeratosis, Erythema, Facial edema ORPHA:221016
Urachal Cyst
Elevated circulating C-reactive protein concentration, Erythema ORPHA:488
Toxic Epidermal Necrolysis
Acantholysis, Skin ulcer, Erythema ORPHA:537
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Perianal erythema, Ectodermal dysplasia, Hydromyelia, Death in infancy, Eczema, Oligohydramnios, ... OMIM:308205
Proteasome-Associated Autoinflammatory Syndrome 1
Premature graying of hair, Erythema nodosum, Progeroid facial appearance, Decreased HDL cholester... OMIM:256040
Scorpion Envenomation
Pulmonary edema, Hypokalemia, Purpura, Increased circulating NT-proBNP concentration, Edema, Eryt... ORPHA:466677
Familial Mediterranean Fever
Pedal edema, Skin rash, Erysipelas, Erythema, Ascites ORPHA:342
Kindler Epidermolysis Bullosa
Cutaneous photosensitivity, Hyperkeratosis, Erythema, Recurrent skin infections, Palmoplantar ker... ORPHA:2908
Zollinger-Ellison Syndrome
Erythema, Jaundice, Hypercalcemia, Increased circulating cortisol level ORPHA:913
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Intrauterine growth retardation, Erythema OMIM:614653
Rothmund-Thomson Syndrome Type 1
Facial erythema, Telangiectasia, Calcinosis, Plantar hyperkeratosis, Facial edema ORPHA:221008
Localized Scleroderma
Erythema ORPHA:90289
Stevens-Johnson Syndrome
Acantholysis, Erythema ORPHA:36426
Chime Syndrome
Hyperkeratosis, Skin ulcer, Erythema ORPHA:3474
Multiple Endocrine Neoplasia Type 4
Erythema, Hypercalcemia, Increased circulating cortisol level, Subcutaneous lipoma ORPHA:276152
Focal Dermal Hypoplasia
Erythema, Telangiectasia of the skin ORPHA:2092
Warburg-Cinotti Syndrome
Poor wound healing, Follicular hyperkeratosis, Joint swelling, Erythema OMIM:618175
Melas
Erythema ORPHA:550
Blau Syndrome
Erythema nodosum, Skin rash, Skin ulcer, Xerostomia, Erythema, Joint swelling, Dry skin ORPHA:90340
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Facial erythema, Atopic dermatitis, Cutis laxa, Reduced subcutaneous adipose tissue, Oligohydramn... OMIM:619503
Chronic Graft Versus Host Disease
Skin vesicle, Skin ulcer, Pleural effusion, Xerostomia, Erythema, Ascites, Poor wound healing ORPHA:99921
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Fragile skin, Erythema, Hypoalbuminemia OMIM:614748
Kawasaki Disease
Skin rash, Palmoplantar erythema, Edema, Jaundice ORPHA:2331
Relapsing Polychondritis
Purpura, Erythema ORPHA:728
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Hyperkeratosis, Eczema, Erythema, Urticaria ORPHA:2273
Microphthalmia With Linear Skin Defects Syndrome
Erythema ORPHA:2556
Baller-Gerold Syndrome
Erythema, Severe intrauterine growth retardation OMIM:218600
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Xerostomia, Hyperkeratosis, Parakeratosis, Dry skin OMIM:618527
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Palmoplantar erythema OMIM:612474

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 Elovl1

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 Elovl1.

No publications found that use IMPC mice or data for Elovl1.

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MGI Allele Allele Type Produced
Elovl1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Elovl1tm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Elovl1tm2e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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