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

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
Hyperkeratosis, Parakeratosis, Dry skin, Xerostomia 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
Miscarriage, Acne, Facial erythema, Hyperkeratotic papule, Follicular hyperkeratosis, Dry skin, C... ORPHA:3406
Non-Epidermolytic Palmoplantar Keratoderma
Pruritus, Diffuse palmoplantar hyperkeratosis, Erythema, Skin ulcer ORPHA:2337
Ichthyosis, Congenital, Autosomal Recessive 14
Pruritus, Erythema, Hyperkeratosis, Orthokeratotic hyperkeratosis, Scaling skin OMIM:617571
Vibratory Urticaria
Urticaria, Flushing, Facial erythema OMIM:125630
Peeling Skin Syndrome 3
Pruritus, Erythema, White scaling skin OMIM:616265
Progressive Symmetric Erythrokeratodermia
Erythema, Palmoplantar keratoderma ORPHA:316
Jessner Lymphocytic Infiltration Of The Skin
Pruritus, Cutaneous photosensitivity, Erythema ORPHA:33314
Acquired Ichthyosis
Recurrent skin infections, Pruritus, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Dry skin ORPHA:454
Cutaneous Collagenous Vasculopathy
Prominent superficial blood vessels, Skin rash, Pruritus, Erythema, Diffuse telangiectasia, Bruis... ORPHA:280779
Krt1-Related Diffuse Nonepidermolytic Keratoderma
Diffuse palmoplantar hyperkeratosis, Erythema, Nonepidermolytic palmoplantar hyperkeratosis, Atop... ORPHA:530838
Mastocytosis, Cutaneous
Urticaria, Erythema, Edema, Telangiectasia macularis eruptiva perstans OMIM:154800
Cutaneous Photosensitivity And Colitis, Lethal
Early cutaneous photosensitivity, Death in infancy, Erythema OMIM:219095
Erythrokeratodermia Variabilis Et Progressiva 4
Hyperkeratosis, Erythema, Palmoplantar hyperkeratosis OMIM:617526
Erythema Nodosum, Familial
Erythema nodosum, Erythema OMIM:132990
Pruritic Urticarial Papules And Plaques Of Pregnancy
Parakeratosis, Pruritus, Pruritis on abdomen, Pruritus on foot, Facial erythema, Pruritis on hand... ORPHA:64745
Mal De Meleda
Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate, No... ORPHA:87503
Erosive Pustular Dermatosis Of The Scalp
Pustule, Erythema ORPHA:222
Hydroa Vacciniforme
Superficial dermal perivascular inflammatory infiltrate, Hydroa vacciniforme, Eczema, Telangiecta... ORPHA:330058
Erythrokeratodermia Variabilis Et Progressiva 2
Erythema, Palmoplantar keratoderma OMIM:617524
Protoporphyria, Erythropoietic, 1
Hypertriglyceridemia, Eczema, Edema, Pruritus, Erythema OMIM:177000
Pressure-Induced Localized Lipoatrophy
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Erythema ORPHA:90160
Quinquaud Folliculitis Decalvans
Pustule, Erythema, Recurrent skin infections ORPHA:346
Angioma Serpiginosum
Erythema, Vascular skin abnormality ORPHA:95429
Cutaneous Small Vessel Vasculitis
Recurrent skin infections, Skin rash, Cutis marmorata, Erythema, Urticaria, Purpura ORPHA:889
Atrophoderma Vermiculata
Pruritus, Hyperkeratotic papule, Erythema, Follicular hyperkeratosis ORPHA:79100
Acral Self-Healing Collodion Baby
Edema of the dorsum of feet, Edema of the dorsum of hands, Erythema, Lack of skin elasticity, Pal... ORPHA:281127
Platelet-Activating Factor Acetylhydrolase Deficiency
Increased level of platelet-activating factor OMIM:614278
Panniculitis-Induced Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Erythema, Vasculitis i... ORPHA:90159
Classic Mycosis Fungoides
Skin rash, Eczema, Edema, Pruritus, Erythema, Skin ulcer, Hyperkeratosis, Dry skin ORPHA:2584
Orthostatic Hypotensive Disorder, Streeten Type
Bruising susceptibility, Facial erythema OMIM:143850
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Tongue edema, Palpebral edema, Pharyngeal edema, Facial edema, Pruritus, Laryngeal edema, Angioed... ORPHA:100057
Dermatitis, Atopic
Recurrent skin infections, Eczema, Pruritus, Atopic dermatitis, Facial erythema, Pallor, Dry skin OMIM:603165
Keratolytic Winter Erythema
Pustule, Erythema ORPHA:50943
Palmoplantar Keratoderma And Congenital Alopecia 2
Hyperkeratosis, Dry skin, Palmoplantar hyperkeratosis, Facial erythema OMIM:212360
Autosomal Erythropoietic Protoporphyria
Eczema, Edema, Pruritus, Abnormal circulating porphyrin concentration, Erythema, Cutaneous photos... ORPHA:79278
Idiopathic Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Pruritus, Erythema, Sc... ORPHA:90158
Maculopapular Cutaneous Mastocytosis
Pruritus, Erythema, Darier's sign, Dermatographic urticaria, Generalized abnormality of skin, Flu... ORPHA:79457
Keratolytic Winter Erythema
Erythema OMIM:148370
Erythema Of Acral Regions
Erythema OMIM:227000
Cutaneous Mastocytoma
Maculopapular exanthema, Telangiectasia of the skin, Pruritus, Angioedema, Erythema, Darier's sig... ORPHA:79455
Acral Peeling Skin Syndrome
Scaling skin, Erythema, Eczema, Excessive wrinkling of palmar skin ORPHA:263534
Granulomatous Slack Skin
Hypercalcemia, Erythema, Redundant skin, 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
Bullous Impetigo
Pustule, Recurrent bacterial skin infections, Erythema ORPHA:36237
Erythrokeratodermia Variabilis
Skin rash, Erythema, Patchy palmoplantar hyperkeratosis, Hyperkeratosis, Cutaneous photosensitivi... ORPHA:317
Hypotrichosis 6
Pruritus, Erythema, Follicular hyperkeratosis OMIM:607903
Interstitial Granulomatous Dermatitis With Arthritis
Pruritus, Inflammatory abnormality of the skin, Erythema, Elevated circulating C-reactive protein... ORPHA:79099
Ichthyosis, Annular Epidermolytic, 2
Erythema, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Orthokeratosis OMIM:620148
Peeling Skin Syndrome 2
Erythema, Scaling skin OMIM:609796
Dermatofibrosarcoma Protuberans
Erythema, Skin ulcer ORPHA:31112
Mal De Meleda
Congenital symmetrical palmoplantar keratosis, Perioral erythema OMIM:248300
Drug-Induced Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Erythema ORPHA:90157
Dermatitis Herpetiformis
Eczema, Edema, Pruritus, Erythema, Urticaria, Skin vesicle ORPHA:1656
Primary Erythromelalgia
Pruritus, Erythema ORPHA:90026
Sjögren-Larsson Syndrome
Urticaria, Hyperkeratosis, Erythema, Dry skin ORPHA:816
Keratosis Pilaris Atrophicans
Erythema OMIM:604093
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Parakeratosis, Pruritus, Palmoplantar hyperkeratosis, Skin fragility with non-scarring blistering... ORPHA:158681
Vulvovaginal Gingival Syndrome
Pruritus, Parakeratosis, Erythema ORPHA:83453
Mycosis Fungoides
Pruritus, Erythema, Psoriasiform dermatitis, Eczema OMIM:254400
Superficial Epidermolytic Ichthyosis
Erythema, Palmoplantar keratoderma, Edema, Acantholysis ORPHA:455
Necrobiosis Lipoidica
Inflammatory abnormality of the skin, Telangiectasia of the skin, Erythema, Skin ulcer, Fragile skin ORPHA:542592
Familial Cold Autoinflammatory Syndrome 3
Pruritus, Angioedema, Erythema, Dermatographic urticaria, Cold urticaria OMIM:614468
Ichthyosis, Annular Epidermolytic, 1
Hyperparakeratosis, Erythema, Palmoplantar hyperkeratosis, Scaling skin, Orthokeratosis OMIM:607602
Familial Benign Chronic Pemphigus
Skin vesicle, Hyperkeratosis, Erythema, Acantholysis ORPHA:2841
C1Q Deficiency 2
Chilblains, Elevated circulating C-reactive protein concentration, Discoid lupus rash, Facial ery... OMIM:620321
Pemphigus Foliaceus
Psoriasiform dermatitis, Acantholysis, Pruritus, Pustule, Crusting erythematous dermatitis, Eryth... ORPHA:79481
Familial Cold Urticaria
Pruritus, Urticaria, Erythema, Dehydration ORPHA:47045
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Erythema, Crusting erythematous dermatitis, Palmoplantar hyperkeratosis, Telangiectasia, Cutaneou... ORPHA:158673
Bullous Pemphigoid
Urticaria, Erythema, Psoriasiform dermatitis, Eczema ORPHA:703
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Parakeratosis, Pruritus, Erythema, Hyperkeratosis, Palmoplantar keratoderma OMIM:615821
Erythrokeratodermia Variabilis Et Progressiva 3
Orthokeratosis, Hyperkeratosis, Erythema, Palmoplantar keratoderma OMIM:617525
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Erythema, Hyperkeratosis, Scaling skin, Death in childhood, Dry skin OMIM:614457
Centrifugal Lipodystrophy
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Lack of facial subcuta... ORPHA:90156
Ichthyosis, Congenital, Autosomal Recessive 8
Orthokeratosis, Hyperkeratosis, Erythema OMIM:613943
Sydenham Chorea
Erythema ORPHA:306731
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Skin rash, Erythema, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Cutaneous abscess OMIM:147060
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Death in early adulthood, Edema, Acantholysis, Palmoplantar hyperkeratosis, Death in adolescence,... OMIM:605676
Psoriasis 14, Pustular
Parakeratosis, Psoriasiform dermatitis, Elevated circulating C-reactive protein concentration, Pu... OMIM:614204
Neutrophilic Dermatosis, Acute Febrile
Elevated circulating C-reactive protein concentration, Erythema, Pyoderma gangrenosum, Cystic acn... OMIM:608068
Complex Regional Pain Syndrome
Dry skin, Edema of the upper limbs, Erythema, Pedal edema ORPHA:83452
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death, Intrauterine growth retardation, Redundant skin OMIM:301021
Polyarteritis Nodosa
Elevated circulating C-reactive protein concentration, Erythema, Cutis marmorata, Skin ulcer ORPHA:767
Transgrediens Et Progrediens Palmoplantar Keratoderma
Recurrent bacterial skin infections, Plantar hyperkeratosis, Diffuse palmoplantar hyperkeratosis,... ORPHA:495
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Facial erythema, Folliculitis, Palmoplantar keratoderma, Follicular hyperkeratosis, Dry skin OMIM:308800
Glutamine Deficiency, Congenital
Hypoglutaminemia, Erythema, Neonatal death, Hyperammonemia OMIM:610015
Rosaï-Dorfman Disease
Erythema ORPHA:158014
Congenital Lethal Erythroderma
Congenital exfoliative erythroderma, Death in infancy, Urticaria, Hypoalbuminemia, Dry skin ORPHA:1954
Palmoplantar Keratoderma And Congenital Alopecia 1
Palmoplantar erythema, Plantar hyperkeratosis, Palmoplantar keratoderma, Epidermal hyperkeratosis OMIM:104100
Adult-Onset Still Disease
Skin rash, Elevated circulating C-reactive protein concentration, Pruritus, Erythema, Joint swell... ORPHA:829
Snakebite Envenomation
Hyponatremia, Edema, Angioedema, Erythema, Ecchymosis ORPHA:449285
Inflammatory Skin And Bowel Disease, Neonatal, 1
Pustule, Perianal erythema, Perioral erythema, Erythroderma OMIM:614328
Prolidase Deficiency
Pruritus, Crusting erythematous dermatitis, Erythema, Skin ulcer, Hyperkeratosis, Cutaneous photo... ORPHA:742
Ichthyosis, Congenital, Autosomal Recessive 3
Hyperkeratosis, Erythema, Palmoplantar keratoderma OMIM:606545
Sting-Associated Vasculopathy, Infantile-Onset
Skin rash, Cutis marmorata, Elevated circulating C-reactive protein concentration, Pustule, Eryth... OMIM:615934
Fixed Drug Eruption
Erythema, Crusting erythematous dermatitis, Generalized abnormality of skin ORPHA:293812
Subcorneal Pustular Dermatosis
Pruritus, Erythema, Pustule ORPHA:48377
Mednik Syndrome
Death in infancy, Erythema, Increased circulating very long-chain fatty acid concentration, Death... OMIM:609313
Mitochondrial Complex I Deficiency, Nuclear Type 35
Redundant neck skin, Nonimmune hydrops fetalis, Hyperprolinemia, Neonatal death, Hyperalaninemia,... OMIM:619003
Pituitary Adenoma 4, Acth-Secreting
Edema, Poor wound healing, Facial erythema, Hypokalemia, Ecchymosis, Bruising susceptibility, Str... OMIM:219090
Juvenile Dermatomyositis
Calcinosis, Skin rash, Palpebral edema, Telangiectasia of the skin, Elevated circulating creatine... ORPHA:93672
Chronic Mucocutaneous Candidiasis
Skin rash, Pruritus, Erythema, Skin ulcer, Hyperkeratosis ORPHA:1334
Angioedema, Hereditary, 1
Intestinal edema, Pharyngeal edema, Periorbital edema, Laryngeal edema, Angioedema, Erythema OMIM:106100
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Redundant skin, Seborrheic dermatitis, Erythema, Palmoplantar hyperkeratosis, Eczematoid dermatit... OMIM:259100
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Folliculitis, Palmoplantar keratoderma, Facial erythema OMIM:612843
Kcnq2-Related Epileptic Encephalopathy
Pallor, Cerebral edema, Facial erythema ORPHA:439218
Immunoglobulin A Vasculitis
Skin rash, Edema, Pustule, Angioedema, Erythema, Skin ulcer, Urticaria, Bruising susceptibility, ... ORPHA:761
Tempi Syndrome
Transudative pleural effusion, Telangiectasia, Ascites, Facial erythema ORPHA:284227
Xeroderma Pigmentosum, Complementation Group F
Cutaneous photosensitivity, Erythema OMIM:278760
Rhizomelic Chondrodysplasia Punctata, Type 2
Decreased circulating plasmalogen concentration OMIM:222765
Epidermodysplasia Verruciformis, Susceptibility To, 4
Facial erythema OMIM:618307
Aicardi-Goutieres Syndrome 1
Chilblains, Erythema, Prolonged neonatal jaundice, Acrocyanosis, Petechiae, Purpura OMIM:225750
Ichthyosis, Congenital, Autosomal Recessive 2
Hyperkeratosis, Erythema, Palmoplantar keratoderma OMIM:242100
Peeling Skin Syndrome 6
Parakeratosis, Pruritus, Atopic dermatitis, Scaling skin, Orthokeratosis, Dry skin OMIM:618084
Sunct Syndrome
Facial edema, Palpebral edema, Flushing, Facial erythema ORPHA:57145
Hyperimmunoglobulinemia D With Periodic Fever
Acrocyanosis, Urticaria, Erythema, Purpura ORPHA:343
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Erythema, Skin ulcer, Palmoplantar keratoderma ORPHA:659
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Decreased serum zinc, Dry skin, Perianal erythema, Perioral erythema OMIM:201100
Odontoonychodermal Dysplasia
Plantar hyperkeratosis, Erythema, Palmoplantar hyperkeratosis, Follicular hyperkeratosis, Orthoke... OMIM:257980
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Parakeratosis, Elevated 8-dehydrocholesterol, Erythema, Elevated 8(9)-cholestenol, Hyperkeratosis... OMIM:308050
Fountain Syndrome
Facial edema, Erythema, Cutis marmorata ORPHA:3219
Microscopic Polyangiitis
Cutis marmorata, Skin rash, Erythema, Skin ulcer, Subcutaneous hemorrhage ORPHA:727
Neonatal Inflammatory Skin And Bowel Disease
Recurrent bacterial skin infections, Chapped lip, Psoriasiform dermatitis, Pustule, Erythema, Sca... ORPHA:294023
Acrodermatitis Enteropathica
Pustule, Erythema, Skin ulcer, Dry skin, Generalized abnormality of skin ORPHA:37
Nodular Non-Suppurative Panniculitis
Erythema, Edema ORPHA:33577
Drug Reaction With Eosinophilia And Systemic Symptoms
Skin rash, Pustule, Angioedema, Erythema, Erythroderma ORPHA:139402
Proteasome-Associated Autoinflammatory Syndrome 4
Erythema, Edema OMIM:619183
Hennekam-Beemer Syndrome
Telangiectasia of the skin, Pruritus, Erythema, Urticaria, Skin vesicle ORPHA:2135
Pearson Marrow-Pancreas Syndrome
Erythema, Hydrops fetalis, Dehydration, Death in childhood, Pallor, Hyperbilirubinemia, Steatorrhea OMIM:557000
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Erythema, Skin rash, Cerebral edema, Death in childhood OMIM:618321
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Erythema OMIM:614878
Lig4 Syndrome
Cutaneous photosensitivity, Erythema, Telangiectasia of the skin ORPHA:99812
Immunodeficiency 23
Eczema, Erythema, Chronic mucocutaneous candidiasis, Vasculitis in the skin, Molluscum contagiosum OMIM:615816
Rheumatic Fever
Erythema, Pallor ORPHA:3099
Gcgr-Related Hyperglucagonemia
Necrolytic migratory erythema ORPHA:438274
Hereditary Acrokeratotic Poikiloderma
Telangiectasia of the skin, Eczema, Pustule, Erythema, Xerostomia, Skin ulcer, Palmoplantar hyper... ORPHA:2907
Chikungunya
Maculopapular exanthema, Skin rash, Facial edema, Erythema nodosum, Pruritus, Crusting erythemato... ORPHA:324625
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Recurrent skin infections, Erythema, Palmoplantar keratoderma, Hypoalbuminemia, Generalized abnor... ORPHA:79396
Ifap Syndrome 2
Perioral erythema OMIM:619016
Vipoma
Hypercalcemia, Erythema, Dehydration, Intermittent jaundice, Increased circulating cortisol level... ORPHA:97282
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Skin rash, Elevated circulating C-reactive protein concentration, Periorbital edema, Erythema, Br... ORPHA:32960
Familial Tumoral Calcinosis
Erythema, Skin rash ORPHA:53715
Riddle Syndrome
Conjunctival telangiectasia, Elevated circulating alpha-fetoprotein concentration, Erythema, Tela... ORPHA:420741
Incontinentia Pigmenti
Telangiectasia of the skin, Skin rash, Erythema, Skin ulcer, Hyperkeratosis ORPHA:464
Bloom Syndrome
Elevated hemoglobin A1c, Malar rash, Facial erythema, Intrauterine growth retardation, Cutaneous ... OMIM:210900
Dermatomyositis
Telangiectasia of the skin, Edema, Periorbital edema, Pruritus, Erythema, Skin ulcer, Acrocyanosi... ORPHA:221
Incontinentia Pigmenti
Hyperkeratosis, Erythema, Maculopapular exanthema, Pallor OMIM:308300
Xeroderma Pigmentosum
Conjunctival telangiectasia, Telangiectasia of the skin, Erythema, Telangiectasia, Hyperkeratosis... ORPHA:910
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Poor wound healing, Facial erythema, Palmoplantar keratoderma, Scaling skin, Dry skin ORPHA:1010
Corneodermatoosseous Syndrome
Erythema, Palmoplantar keratoderma ORPHA:3194
Kikuchi-Fujimoto Disease
Skin rash, Palpebral edema, Elevated circulating C-reactive protein concentration, Pruritus, Pust... ORPHA:50918
Behcet Syndrome
Erythema nodosum, Erythema OMIM:109650
Glucagonoma
Skin rash, Hypercalcemia, Necrolytic migratory erythema, Pruritus, Intermittent jaundice, Increas... ORPHA:97280
Rothmund-Thomson Syndrome Type 2
Calcinosis, Plantar hyperkeratosis, Facial edema, Erythema, Facial erythema ORPHA:221016
Urachal Cyst
Erythema, Elevated circulating C-reactive protein concentration ORPHA:488
Toxic Epidermal Necrolysis
Erythema, Skin ulcer, Acantholysis ORPHA:537
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Death in infancy, Subungual hyperkeratosis, Recurrent skin infections, Eczema, Perianal erythema,... OMIM:308205
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Intrauterine growth retardation, Erythema OMIM:614653
Proteasome-Associated Autoinflammatory Syndrome 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Progeroid facial appearance, Eleva... OMIM:256040
Kindler Epidermolysis Bullosa
Recurrent skin infections, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Cutaneous photosen... ORPHA:2908
Familial Mediterranean Fever
Skin rash, Erythema, Pedal edema, Ascites, Erysipelas ORPHA:342
Localized Scleroderma
Erythema ORPHA:90289
Rothmund-Thomson Syndrome Type 1
Calcinosis, Plantar hyperkeratosis, Facial edema, Telangiectasia, Facial erythema ORPHA:221008
Scorpion Envenomation
Increased circulating NT-proBNP concentration, Pulmonary edema, Edema, Erythema, Hypokalemia, Inc... ORPHA:466677
Stevens-Johnson Syndrome
Erythema, Acantholysis ORPHA:36426
Zollinger-Ellison Syndrome
Increased circulating cortisol level, Erythema, Hypercalcemia, Jaundice ORPHA:913
Chime Syndrome
Hyperkeratosis, Erythema, Skin ulcer ORPHA:3474
Focal Dermal Hypoplasia
Erythema, Telangiectasia of the skin ORPHA:2092
Warburg-Cinotti Syndrome
Joint swelling, Erythema, Follicular hyperkeratosis, Poor wound healing OMIM:618175
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Erythema, Hypercalcemia, Subcutaneous lipoma ORPHA:276152
Melas
Erythema ORPHA:550
Blau Syndrome
Skin rash, Erythema nodosum, Erythema, Xerostomia, Skin ulcer, Joint swelling, Dry skin ORPHA:90340
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Reduced subcutaneous adipose tissue, Fetal ascites, Erythema, Atopic dermatitis, Facial erythema,... OMIM:619503
Chronic Graft Versus Host Disease
Poor wound healing, Erythema, Xerostomia, Skin ulcer, Skin vesicle, Pleural effusion, Ascites ORPHA:99921
Sympathetic Ophthalmia
Erythema, Macular edema ORPHA:79098
Kawasaki Disease
Palmoplantar erythema, Jaundice, Skin rash, Edema ORPHA:2331
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Erythema, Hypoalbuminemia, Fragile skin OMIM:614748
Relapsing Polychondritis
Erythema, Purpura ORPHA:728
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Urticaria, Hyperkeratosis, Erythema, Eczema 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
Hyperkeratosis, Parakeratosis, Dry skin, Xerostomia 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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