Gene Summary

Name:
membrane metallo endopeptidase
Synonyms:
CD10,  6030454K05Rik,  NEP,  neprilysin,  neutral endopeptidase

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
hyperactivity Mmeem1(IMPC)Mbp HOM Early adult 1.33×10-07

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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.

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

Human diseases caused by Mme 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 Mme by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Glomerulonephritis ORPHA:69063
Spinocerebellar Ataxia 43
OMIM:617018
Charcot-Marie-Tooth Disease, Axonal, Type 2T
OMIM:617017
Spinocerebellar Ataxia Type 43
ORPHA:497764

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Attention Deficit-Hyperactivity Disorder 8
Attention deficit hyperactivity disorder OMIM:619957
Acne Inversa, Familial, 3
Perifolliculitis, Acne inversa, Chronic furunculosis, Recurrent cutaneous abscess formation OMIM:613737
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7
Attention deficit hyperactivity disorder OMIM:613003
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder OMIM:618830
Dissecting Cellulitis Of The Scalp
Edema, Pruritus, Recurrent skin infections ORPHA:345
Immunodeficiency 8
Hyperactivity OMIM:615401
Acne Inversa, Familial, 1
Acne inversa OMIM:142690
Immunodeficiency 51
Chronic furunculosis, Chronic oral candidiasis, Folliculitis, Recurrent cutaneous fungal infectio... OMIM:613953
Benign Cephalic Histiocytosis
Inflammatory abnormality of the skin, Skin rash ORPHA:157997
Lymphatic Malformation 3
Lymphedema, Recurrent skin infections OMIM:613480
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Kerion Celsi
Inflammatory abnormality of the skin, Recurrent cutaneous abscess formation, Recurrent skin infec... ORPHA:499
Familial Reactive Perforating Collagenosis
Inflammatory abnormality of the skin, Perifolliculitis, Maculopapular exanthema, Crusting erythem... ORPHA:79147
Paget Disease, Extramammary
Eczematoid dermatitis OMIM:167300
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Hepatocellular necrosis, Hepatic failure, Cirrhosis... OMIM:231100
Bullous Diffuse Cutaneous Mastocytosis
Erythroderma, Cutaneous mastocytosis, Pruritus ORPHA:280785
Chronic Actinic Dermatitis
Eczema, Allergic rhinitis, Late onset atopic dermatitis, Pruritus, Erythroderma ORPHA:330064
Intellectual Developmental Disorder, Autosomal Recessive 2
Attention deficit hyperactivity disorder OMIM:607417
Intellectual Developmental Disorder, Fra12A Type
Erythroderma OMIM:136630
Myeloma, Multiple
Amyloidosis OMIM:254500
Erythroderma, Lethal Congenital
Congenital exfoliative erythroderma OMIM:227090
Amyloidosis, Primary Localized Cutaneous, 2
Cutaneous amyloidosis OMIM:613955
Amyloidosis, Cutaneous Bullous
Amyloidosis OMIM:204900
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection
Cutaneous abscess, Chronic furunculosis OMIM:619986
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Perifolliculitis, Acne inversa, Chronic furunculosis, Recurrent cutaneous abscess formation OMIM:613736
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Perifolliculitis OMIM:260910
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Intellectual Developmental Disorder, Autosomal Dominant 69
Attention deficit hyperactivity disorder OMIM:617863
Pityriasis Rubra Pilaris
Erythroderma, Eczema, Pustule, Pruritus ORPHA:2897
Pediatric Hepatocellular Carcinoma
Elevated alpha-fetoprotein, Hepatic fibrosis, Hepatomegaly, Hepatic necrosis ORPHA:33402
Variant Abeta2M Amyloidosis
Cardiac amyloidosis, Hepatic amyloidosis, Amyloidosis of peripheral nerves, Cutaneous amyloidosis... ORPHA:314652
Amyloidosis, Familial Visceral
Generalized amyloid deposition, Hepatomegaly, Cholestasis, Splenomegaly OMIM:105200
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity OMIM:615493
Erythroderma Desquamativum
Seborrheic dermatitis ORPHA:314
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity ORPHA:356996
Erythema Nodosum, Familial
Erythema nodosum OMIM:132990
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Amyloidosis OMIM:204850
Ichthyosis, Congenital, Autosomal Recessive 7
Erythroderma OMIM:615022
Amyloidosis, Finnish Type
Cardiac amyloidosis, Generalized amyloid deposition OMIM:105120
Verrucous Hemangioma
Inflammatory abnormality of the skin ORPHA:464318
Erythrokeratodermia Variabilis Et Progressiva 1
Erythroderma OMIM:133200
Epidermolytic Hyperkeratosis
Erythroderma OMIM:113800
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Mental Retardation And Psoriasis
Psoriasiform dermatitis OMIM:309480
X-Linked Intellectual Disability-Seizures-Psoriasis Syndrome
Psoriasiform dermatitis ORPHA:3052
African Iron Overload
Increased circulating ferritin concentration, Abnormal pancreas morphology, Hepatomegaly, Microno... ORPHA:139507
Seborrhea-Like Dermatitis With Psoriasiform Elements
Seborrheic dermatitis OMIM:610227
Ichthyosis Prematurity Syndrome
Erythroderma, Allergic rhinitis, Polyhydramnios, Pruritus OMIM:608649
Ige Responsiveness, Atopic
Allergic rhinitis, Eczema, Increased circulating IgE level OMIM:147050
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Immunodeficiency 15A
Acne inversa, Recurrent sinusitis, Chronic mucocutaneous candidiasis, Recurrent otitis media, Cut... OMIM:618204
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Candidiasis, Familial, 8
Blepharitis, Seborrheic dermatitis OMIM:615527
Immunodeficiency 66
Defective T cell proliferation, Pustule, Recurrent skin infections OMIM:618847
Cerebral Amyloid Angiopathy, Cst3-Related
Generalized amyloid deposition OMIM:105150
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatocellular necrosis, Hepatomegaly, Micronodular cirrhosis, Periportal fibrosis, Splenomegaly,... OMIM:251880
Amyloidosis, Primary Localized Cutaneous, 1
Amyloidosis OMIM:105250
Aa Amyloidosis
Amyloidosis, Hepatomegaly, Cholestasis, Renal amyloidosis ORPHA:85445
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Ichthyosis, Congenital, Autosomal Recessive 10
Erythroderma OMIM:615024
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Decreased circulating IgG level, Recurrent skin infections, Atopic dermatitis, Decreased circulat... OMIM:618944
Epidermodysplasia Verruciformis
Seborrheic dermatitis, Pustule, Recurrent skin infections ORPHA:302
Immunodeficiency 25
Increased circulating IgA level, Increased circulating IgG level, Recurrent pneumonia, Increased ... OMIM:610163
Erythrokeratodermia Variabilis Et Progressiva 6
Superficial dermal perivascular inflammatory infiltrate, Pruritus OMIM:618531
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Eczematoid dermatitis, Seborrheic dermatitis OMIM:619693
Inflammatory Skin And Bowel Disease, Neonatal, 1
Erythroderma, Blepharitis, Increased circulating IgE level, Pustule OMIM:614328
Quinquaud Folliculitis Decalvans
Pustule, Recurrent skin infections ORPHA:346
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Increased circulating antibody level, Chronic oral candidiasis, Decreased circulating IgG level, ... ORPHA:169160
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Peeling Skin Syndrome 1
Erythroderma, Increased circulating IgE level, Pruritus OMIM:270300
Immunodeficiency 50
Eczema, Decreased circulating antibody level OMIM:300988
Immunodeficiency 11B With Atopic Dermatitis
Atopic dermatitis, Pneumonia OMIM:617638
Palmoplantar Carcinoma, Multiple Self-Healing
Amyloidosis, Cutaneous macular amyloidosis OMIM:615225
Inflammatory Bowel Disease 28, Autosomal Recessive
Crohn's disease, Colitis, Enterocolitis, Folliculitis, Pyoderma, Perianal abscess OMIM:613148
Keratolytic Winter Erythema
Pustule ORPHA:50943
Absence Of Fingerprints-Congenital Milia Syndrome
Thin skin, Skin rash ORPHA:1658
Congenital Non-Bullous Ichthyosiform Erythroderma
Keratitis, Erythroderma, Pruritus ORPHA:79394
Netherton Syndrome
Decreased circulating IgG level, Hypernatremic dehydration, Allergic rhinitis, Angioedema, Erythr... OMIM:256500
Drug Reaction With Eosinophilia And Systemic Symptoms
Pustule, Skin rash, Interstitial pneumonitis, Myocarditis, Angioedema, Hepatitis, Tubulointerstit... ORPHA:139402
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Recurrent skin infections, Eczema, Atopic dermatitis, Chronic mucocutaneous candidiasis, Pruritus... OMIM:618282
Complement Component 5 Deficiency
Generalized seborrheic dermatitis OMIM:609536
Alopecia-Intellectual Disability Syndrome 4
Erythroderma OMIM:618840
Pemphigus Foliaceus
Pustule, Crusting erythematous dermatitis, Pruritus, Erythroderma, Psoriasiform dermatitis ORPHA:79481
Mycosis Fungoides
Psoriasiform dermatitis, Eczema, Pruritus OMIM:254400
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level, Late onset atopic dermatitis OMIM:221700
Erosive Pustular Dermatosis Of The Scalp
Pustule ORPHA:222
Bullous Impetigo
Recurrent bacterial skin infections, Pustule, Septic arthritis ORPHA:36237
Congenital Lethal Erythroderma
Congenital exfoliative erythroderma ORPHA:1954
Inflammatory Skin And Bowel Disease, Neonatal, 2
Dehydration, Recurrent pneumonia, Pustule, Edema OMIM:616069
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgA level, Oligoarthritis, Decreased circulating IgG level, Decreased circu... OMIM:619510
Acys Amyloidosis
Amyloidosis, Cerebral amyloid angiopathy ORPHA:100008
Corneodermatoosseous Syndrome
Erythroderma OMIM:122440
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatocellular necrosis, Hepatomegaly, Periportal fibrosis, Hyperammonemia, Elevated circulating ... OMIM:201475
Psoriasis 15, Pustular, Susceptibility To
Psoriasiform dermatitis OMIM:616106
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Erythroderma, Psoriasiform dermatitis, Recurrent skin infections OMIM:615508
Chilblain Lupus
Pruritis on hand, Discoid lupus rash, Inflammatory abnormality of the skin, Increased circulating... ORPHA:90280
S├ęzary Syndrome
Erythroderma, Edema, Abnormal immunoglobulin level, Pruritus ORPHA:3162
Lamellar Ichthyosis
Erythroderma, Dehydration, Chronic otitis media, Pruritus ORPHA:313
Dermatitis, Atopic
Recurrent skin infections, Eczema, Atopic dermatitis, Allergic rhinitis, Pruritus, Conjunctivitis OMIM:603165
Autosomal Dominant Epidermolytic Ichthyosis
Erythroderma ORPHA:312
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Abnormal circulating acetylcarnitine concentration, Acute hepatic failure, Hyperammonemia, Increa... ORPHA:71212
Wiskott-Aldrich Syndrome 2
Reduced natural killer cell activity, Eczema, Defective T cell proliferation OMIM:614493
Familial Mediterranean Fever
Hepatomegaly, Elevated circulating C-reactive protein concentration, Elevated circulating amyloid... OMIM:249100
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity OMIM:301076
Netherton Syndrome
Skin rash, Dehydration, Eczema, Decreased circulating antibody level, Erythroderma, Increased cir... ORPHA:634
Immunodeficiency 58
Colitis, Eczema, Chronic otitis media, Decreased specific antibody response to vaccination, Aller... OMIM:618131
Idiopathic Trachyonychia
Amyloidosis ORPHA:79153
Aapoaiv Amyloidosis
Cardiac amyloidosis, Hyperlipidemia, Renal interstitial amyloid deposits, Cutaneous amyloidosis, ... ORPHA:439232
Pressure-Induced Localized Lipoatrophy
Inflammatory abnormality of the skin ORPHA:90160
Carcinoid Syndrome
Abnormal B-type natriuretic peptide level, Elevated hepatic transaminase, Hepatic necrosis ORPHA:100093
Elastoderma
Eczema, Erysipelas ORPHA:228240
Periodic Fever, Familial, Autosomal Dominant
AA amyloidosis, Hepatomegaly, Hepatic amyloidosis OMIM:142680
Protoporphyria, Erythropoietic, 1
Edema, Eczema, Pruritus OMIM:177000
Amyloidosis, Hereditary, Transthyretin-Related
Amyloidosis OMIM:105210
Harlequin Ichthyosis
Erythroderma, Dehydration ORPHA:457
Omenn Syndrome
Edema, Pruritus, Erythroderma, Pneumonia, Thyroiditis ORPHA:39041
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Seborrheic dermatitis, Acne OMIM:614441
Gjc2-Related Late-Onset Primary Lymphedema
Predominantly lower limb lymphedema, Facial edema, Genital edema, Recurrent skin infections, Edem... ORPHA:568051
Ichthyosis, Hystrix-Like, With Deafness
Erythroderma, Punctate keratitis OMIM:602540
Ichthyosis With Confetti
Erythroderma, Pruritus OMIM:609165
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Copper Deficiency, Familial Benign
Seborrheic dermatitis OMIM:121270
Lymphoproliferative Syndrome, X-Linked, 2
Colitis, Folliculitis, Recurrent skin infections, Inflammation of the large intestine, Hepatitis,... OMIM:300635
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatic necrosis, Hepatic steatosis, Fulminant hepatic failure OMIM:231530
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Mal De Meleda
Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate ORPHA:87503
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased specific anti-polysaccharide antibody level, Decreased circulating IgA level, Chronic o... OMIM:606367
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617113
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity OMIM:619031
Panniculitis-Induced Localized Lipodystrophy
Inflammatory abnormality of the skin, Abnormal immunoglobulin level ORPHA:90159
Interstitial Granulomatous Dermatitis With Arthritis
Rheumatoid arthritis, Inflammatory abnormality of the skin, Pruritus ORPHA:79099
Ichthyosis, Congenital, Autosomal Recessive 5
Erythroderma OMIM:604777
Q Fever
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Cholecystitis, Amyloidosis, Elevated hepatic tran... ORPHA:781
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eczema, Glomerulonephritis, Arthritis, Hepatitis, Erythroderma, Increased circulating IgE level OMIM:304790
Pellagra-Like Syndrome
Skin rash OMIM:260650
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Recurrent sinusitis, Colitis, Recurrent aphthous stomatitis, Perioral eczema OMIM:613960
Bleeding Disorder, Platelet-Type, 21
Eczema, Psoriasiform dermatitis OMIM:617443
Meige Disease
Predominantly lower limb lymphedema, Recurrent bacterial skin infections, Facial edema, Recurrent... ORPHA:90186
Autosomal Erythropoietic Protoporphyria
Edema, Eczema, Pruritus ORPHA:79278
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Decreased liver function, Hepatomegaly, Hyperam... ORPHA:26791
Diffuse Cutaneous Mastocytosis
Erythroderma, Peau d'orange, Pruritus ORPHA:79456
Inflammatory Bowel Disease 25, Autosomal Recessive
Pancolitis, Perianal abscess, Enterocolitis, Folliculitis OMIM:612567
Leigh Syndrome
Hepatocellular necrosis OMIM:256000
Immunodeficiency, Common Variable, 14
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:617765
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgA level, Chronic oral candidiasis, Decreased circulating IgG level, Skin ... OMIM:300400
Ameloonychohypohidrotic Syndrome
Seborrheic dermatitis OMIM:104570
Ichthyosis, Congenital, Autosomal Recessive 9
Erythroderma OMIM:615023
Morm Syndrome
Hyperactivity ORPHA:75858
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Crohn's disease, Increased circulating antibody level, Pustule, Myositis, Arthritis, Increased in... ORPHA:69126
Ichthyosis, Congenital, Autosomal Recessive 1
Erythroderma OMIM:242300
Spinocerebellar Ataxia 34
Erythroderma OMIM:133190
Familial Hemophagocytic Lymphohistiocytosis
Colitis, Skin rash, Maculopapular exanthema, Reduced natural killer cell activity, Decreased circ... ORPHA:540
Congenital Disorder Of Glycosylation, Type If
Erythroderma OMIM:609180
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant
Seborrheic dermatitis, Acne OMIM:167100
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Jaundice, Elevated circulating glutaric acid concentration, Hepatic periportal necr... OMIM:231680
Hepatocellular Carcinoma
Abnormality of the hepatic vasculature, Hypokalemia, Hepatomegaly, Hemobilia, Hyperbilirubinemia,... ORPHA:88673
Systemic Mastocytosis With Associated Hematologic Neoplasm
Amyloidosis, Hepatomegaly, Splenomegaly ORPHA:98849
Intellectual Developmental Disorder, Autosomal Dominant 67
Attention deficit hyperactivity disorder, Hyperactivity OMIM:619927
Majeed Syndrome
Joint swelling, Osteomyelitis, Inflammatory abnormality of the skin, Skin rash OMIM:609628
Omenn Syndrome
Erythroderma, Pneumonia OMIM:603554
Bathing Suit Ichthyosis
Erythroderma ORPHA:100976
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Increased circulating antibody level, Increased circulating IgA level, Increased circulating IgG ... ORPHA:169154
Bullous Pemphigoid
Eczema, Psoriasiform dermatitis ORPHA:703
Systemic-Onset Juvenile Idiopathic Arthritis
Joint swelling, Skin rash, Juvenile rheumatoid arthritis, Anterior uveitis, Pleural effusion, Per... ORPHA:85414
Zinc Deficiency, Transient Neonatal
Eczema OMIM:608118
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Osteomyelitis, Skin rash, Palmoplantar pustulosis, Inflammation of the large intestine, Arthritis... ORPHA:324964
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lack of T cell function, Sinusitis, Inflammatory abnormality of the skin, Recurrent pneumonia, Re... ORPHA:277
Immunodeficiency 57 With Autoinflammation
Gastritis, Skin rash, Inflammation of the large intestine, Decreased circulating antibody level, ... OMIM:618108
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Eczema, Lymphadenitis, Inflammation of the large intestine, Thin skin, Erythroderma OMIM:615895
Ichthyosis, Congenital, Autosomal Recessive 6
Erythroderma OMIM:612281
Histidinemia
Hyperactivity ORPHA:2157
Idiopathic Localized Lipodystrophy
Inflammatory abnormality of the skin, Pruritus ORPHA:90158
Melkersson-Rosenthal Syndrome
Cheilitis, Inflammatory abnormality of the skin, Edema, Periorbital edema ORPHA:2483
Pachydermoperiostosis
Joint swelling, Osteomyelitis, Eczematoid dermatitis, Arthritis, Acne, Edema, Seborrheic dermatitis ORPHA:2796
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Erythroderma, Conjunctivitis OMIM:242150
Yao Syndrome
Inflammatory abnormality of the skin, Skin rash, Xerostomia, Keratoconjunctivitis sicca, Arthriti... OMIM:617321
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Keratitis, Oligohydramnios, Erythroderma OMIM:308205
Dermatitis Herpetiformis
Edema, Eczema, Pruritus ORPHA:1656
Biotinidase Deficiency
Seborrheic dermatitis, Conjunctivitis, Skin rash, Recurrent skin infections OMIM:253260
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Crohn's disease, Decreased circulating IgA level, Decreased circulating IgG level, Eczema, Atroph... OMIM:616100
Letterer-Siwe Disease
Stomatitis, Seborrheic dermatitis OMIM:246400
Chondrodysplasia Punctata 2, X-Linked Dominant
Erythroderma, Polyhydramnios, Edema OMIM:302960
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Cutaneous amyloidosis OMIM:301220
Idiopathic Hypereosinophilic Syndrome
Joint swelling, Colitis, Pancreatitis, Inflammatory abnormality of the skin, Eczema, Chronic hepa... ORPHA:3260
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Seborrheic dermatitis, Eczematoid dermatitis, Arthritis OMIM:259100
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Erythroderma, Decreased circulating antibody level OMIM:617425
Sapho Syndrome
Osteomyelitis, Pustule, Skin rash, Recurrent skin infections, Palmoplantar pustulosis, Inflammati... ORPHA:793
X-Linked Dominant Chondrodysplasia Punctata
Erythroderma ORPHA:35173
Iga Pemphigus
Increased circulating IgA level, Pustule, Monoclonal elevation of circulating IgA, Pruritus, Ulce... ORPHA:555905
Transketolase Deficiency
Uveitis, Conjunctivitis, Seborrheic dermatitis ORPHA:488618
Acute Liver Failure
Hepatocellular necrosis, Hyperammonemia, Elevated hepatic transaminase, Hepatitis, Hepatic peripo... ORPHA:90062
Trichothiodystrophy 1, Photosensitive
Erythroderma, Keratoconjunctivitis sicca, Decreased circulating IgG level OMIM:601675
X-Linked Lymphoproliferative Disease
Increased circulating ferritin concentration, Decreased liver function, Splenomegaly, Hepatic fai... ORPHA:2442
Majeed Syndrome
Osteomyelitis, Inflammatory abnormality of the skin, Pustule, Abnormal inflammatory response, Ede... ORPHA:77297
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Hyperactivity OMIM:618504
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatocellular necrosis, Microvesicular hepatic steatosis, Hepatomegaly, Hepatosplenomegaly, Unco... OMIM:618278
Familial Cold Autoinflammatory Syndrome 1
Elevated circulating C-reactive protein concentration, Renal amyloidosis OMIM:120100
Rat-Bite Fever
Oligoarthritis, Pancreatitis, Pustule, Skin rash, Maculopapular exanthema, Lymphadenitis, Endocar... ORPHA:31205
Blau Syndrome
Joint swelling, Cystoid macular edema, Iritis, Eczema, Arthritis, Uveitis, Nongranulomatous uveit... OMIM:186580
Vexas Syndrome
Nasal chondritis, Inflammatory abnormality of the skin, Neutrophilic infiltration of the skin, Ar... OMIM:301054
Intellectual Developmental Disorder, X-Linked 107
Attention deficit hyperactivity disorder, Hyperactivity OMIM:301013
Muckle-Wells Syndrome
Elevated circulating C-reactive protein concentration, Renal amyloidosis OMIM:191900
Centrifugal Lipodystrophy
Lymphadenitis, Inflammatory abnormality of the skin ORPHA:90156
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Seborrheic dermatitis OMIM:210210
Multiple Endocrine Neoplasia, Type Iia
Cutaneous lichen amyloidosis OMIM:171400
Trichothiodystrophy
Eczema, Congenital exfoliative erythroderma, Panhypogammaglobulinemia, Keratoconjunctivitis sicca... ORPHA:33364
Familial Mediterranean Fever, Autosomal Dominant
Peritonitis, Renal amyloidosis OMIM:134610
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Aspiration pneumonia, Ascites, Seborrheic dermatitis OMIM:301072
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Thyroiditis, Eczematoid dermatitis, Gastritis, Colitis, Osteomyelitis, Inflammatory abnormality o... ORPHA:37042
Monosomy 22
Joint swelling, Seborrheic dermatitis ORPHA:96123
Graft Versus Host Disease
Inflammatory abnormality of the skin, Maculopapular exanthema, Chronic hepatitis, Myositis, Arthr... ORPHA:39812
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity ORPHA:85327
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity OMIM:618314
Hemihyperplasia-Multiple Lipomatosis Syndrome
Seborrheic dermatitis ORPHA:276280
Multiple Endocrine Neoplasia Type 2
Neoplasm of the liver, Cutaneous lichen amyloidosis, Hypercalcemia ORPHA:653
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Polyhydramnios, Hydrops fetalis, Seborrheic dermatitis OMIM:300868
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Eczema, Seborrheic dermatitis ORPHA:369950
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Pancreatitis, Hepatomegaly, Hepatic failure, Intraa... ORPHA:470
Thrombocytopenia-Absent Radius Syndrome
Edema of the dorsum of feet, Decreased circulating antibody level, Edema of the dorsum of hands, ... OMIM:274000
Uremic Pruritus
Inflammatory abnormality of the skin, Pruritus, Recurrent skin infections ORPHA:94059
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Sinusitis, Inflammatory abnormality of the skin, Decreased circulating IgA level, Skin rash, Abse... OMIM:102700
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Decreased circulating total IgM, Eczema, Superficial dermal perivascular inflammatory infiltrate,... ORPHA:83617
Hyperthyroidism, Nonautoimmune
Hyperactivity OMIM:609152
22Q11.2 Deletion Syndrome
Impaired T cell function, Chronic otitis media, Arthritis, Polyhydramnios, Acne, Seborrheic derma... ORPHA:567
Attrv122I Amyloidosis
Cardiac amyloidosis, Increased circulating NT-proBNP concentration ORPHA:85451
Muckle-Wells Syndrome
Hepatomegaly, Renal amyloidosis, Splenomegaly ORPHA:575
Inherited Creutzfeldt-Jakob Disease
Amyloidosis of peripheral nerves ORPHA:282166
Igg4-Related Kidney Disease
Prostatitis, Pancreatitis, Inflammatory abnormality of the skin, Increased circulating IgG1 level... ORPHA:449395
Malakoplakia
Inflammatory abnormality of the skin, Orchitis, Skin rash, Pruritus, Urinary bladder inflammation ORPHA:556
Digeorge Syndrome
Impaired T cell function, Recurrent sinusitis, Acne, Recurrent pneumonia, Recurrent otitis media,... OMIM:188400
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Abnormal circulating selenium concentration, Decreased plasma total carnitine, Decreased serum zi... ORPHA:79408
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Glomerulonephritis ORPHA:69063
Spinocerebellar Ataxia Type 43
ORPHA:497764
Spinocerebellar Ataxia 43
OMIM:617018
Charcot-Marie-Tooth Disease, Axonal, Type 2T
OMIM:617017

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 Mme

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 Mme.

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

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MGI Allele Allele Type Produced
Mmeem1(IMPC)Mbp Inter-exon deletion Mice, Tissue
Mmetm300418(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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