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 1.58×10-07

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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 Dorso Ventral

30 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 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
Schizophrenia 15
Hyperactivity OMIM:613950
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Attention Deficit-Hyperactivity Disorder 8
Attention deficit hyperactivity disorder OMIM:619957
Acne Inversa, Familial, 3
Acne inversa, Perifolliculitis, 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
Dissecting Cellulitis Of The Scalp
Pruritus, Recurrent skin infections, Edema ORPHA:345
Acne Inversa, Familial, 1
Acne inversa OMIM:142690
Chilblain Lupus 2
Chilblains OMIM:614415
Linear Atrophoderma Of Moulin
Pruritus, Inflammatory abnormality of the skin ORPHA:140933
Immunodeficiency 51
Chronic mucocutaneous candidiasis, Chronic oral candidiasis, Recurrent cutaneous fungal infection... OMIM:613953
Benign Cephalic Histiocytosis
Inflammatory abnormality of the skin, Skin rash ORPHA:157997
Lymphatic Malformation 3
Recurrent skin infections, Lymphedema OMIM:613480
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Kerion Celsi
Recurrent cutaneous abscess formation, Recurrent skin infections, Inflammatory abnormality of the... ORPHA:499
Paget Disease, Extramammary
Eczematoid dermatitis OMIM:167300
Hemochromatosis, Neonatal
Hepatocellular necrosis, Cholestasis, Hepatic fibrosis, Prolonged neonatal jaundice, Cirrhosis, I... OMIM:231100
Bullous Diffuse Cutaneous Mastocytosis
Pruritus, Cutaneous mastocytosis, Erythroderma ORPHA:280785
Chronic Actinic Dermatitis
Late onset atopic dermatitis, Pruritus, Allergic rhinitis, Eczema, Erythroderma ORPHA:330064
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
Pediatric Hepatocellular Carcinoma
Elevated circulating alpha-fetoprotein concentration, Hepatic fibrosis, Hepatomegaly, Portal vein... ORPHA:33402
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Acne inversa, Perifolliculitis, Chronic furunculosis, Recurrent cutaneous abscess formation OMIM:613736
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection
Cutaneous abscess, Chronic furunculosis OMIM:619986
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Perifolliculitis OMIM:260910
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Pityriasis Rubra Pilaris
Pruritus, Eczema, Pustule, Erythroderma ORPHA:2897
Variant Abeta2M Amyloidosis
Cutaneous amyloidosis, Renal amyloidosis, Cardiac amyloidosis, Hepatic amyloidosis, Amyloidosis o... ORPHA:314652
Amyloidosis, Familial Visceral
Cholestasis, Generalized amyloid deposition, Hepatomegaly, Splenomegaly OMIM:105200
Erythroderma Desquamativum
Seborrheic dermatitis ORPHA:314
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:301008
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Amyloidosis OMIM:204850
Erythema Nodosum, Familial
Erythema nodosum OMIM:132990
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
Familial Reactive Perforating Collagenosis
Inflammatory abnormality of the skin, Maculopapular exanthema, Pruritus, Perifolliculitis, Crusti... ORPHA:79147
Erythrokeratodermia Variabilis Et Progressiva 1
Erythroderma OMIM:133200
Amyloidosis, Primary Localized Cutaneous, 1
Amyloidosis OMIM:105250
Candidiasis, Familial, 8
Cheilitis, Seborrheic dermatitis, Blepharitis, Chronic oral candidiasis OMIM:615527
Epidermolytic Hyperkeratosis 1
Erythroderma OMIM:113800
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity OMIM:615493
Dietary Iron Overload Disease
Peritonitis, Hepatocellular carcinoma, Elevated transferrin saturation, Hepatic bridging fibrosis... ORPHA:139507
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity ORPHA:356996
Mental Retardation And Psoriasis
Psoriasiform dermatitis OMIM:309480
Seborrhea-Like Dermatitis With Psoriasiform Elements
Seborrheic dermatitis OMIM:610227
Ichthyosis Prematurity Syndrome
Pruritus, Polyhydramnios, Allergic rhinitis, Erythroderma OMIM:608649
Ige Responsiveness, Atopic
Increased circulating IgE level, Eczema, Allergic rhinitis OMIM:147050
Immunodeficiency 15A
Acne inversa, Recurrent otitis media, Cutaneous abscess, Recurrent sinusitis, Chronic mucocutaneo... OMIM:618204
Cerebral Amyloid Angiopathy, Cst3-Related
Generalized amyloid deposition OMIM:105150
Immunodeficiency 66
Recurrent skin infections, Pustule, Defective T cell proliferation OMIM:618847
Netherton Syndrome
Angioedema, Increased circulating IgE level, Chronic rhinitis, Recurrent skin infections, Decreas... OMIM:256500
Aa Amyloidosis
Cholestasis, Hepatomegaly, Amyloidosis, Renal amyloidosis ORPHA:85445
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Ichthyosis, Congenital, Autosomal Recessive 10
Erythroderma OMIM:615024
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Decreased circulating total IgM, Atopic dermatitis, Increased circulating IgE level, Recurrent ot... OMIM:618944
Epidermodysplasia Verruciformis
Seborrheic dermatitis, Pustule, Recurrent skin infections ORPHA:302
Immunodeficiency 25
Increased circulating IgA level, Decreased circulating IgG2 level, Increased circulating IgE leve... OMIM:610163
Inflammatory Skin And Bowel Disease, Neonatal, 1
Increased circulating IgE level, Blepharitis, Erythroderma, Pustule OMIM:614328
Erythrokeratodermia Variabilis Et Progressiva 6
Pruritus, Superficial dermal perivascular inflammatory infiltrate OMIM:618531
Agammaglobulinemia 9, Autosomal Recessive
Eczematoid dermatitis, Seborrheic dermatitis, Agammaglobulinemia OMIM:619693
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Increased circulating antibody level, Decreased circulating total IgA, Chronic oral candidiasis, ... ORPHA:169160
Quinquaud Folliculitis Decalvans
Recurrent skin infections, Pustule ORPHA:346
Peeling Skin Syndrome 1
Pruritus, Increased circulating IgE level, Erythroderma OMIM:270300
Immunodeficiency 50
Eczema, Decreased circulating antibody level OMIM:300988
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Jaundice, Elevated circulating alpha-fetoprotein concentration, Hepatomegaly, Elevated hepatic tr... OMIM:251880
Inflammatory Bowel Disease 28, Autosomal Recessive
Colitis, Perianal abscess, Enterocolitis, Crohn's disease, Pyoderma, Folliculitis OMIM:613148
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Tubulointerstitial nephritis, Skin rash, Angioedema, Hepatitis, Infectious encephali... ORPHA:139402
Congenital Ichthyosiform Erythroderma
Pruritus, Keratitis, Erythroderma ORPHA:79394
Pemphigus Foliaceus
Pruritus, Psoriasiform dermatitis, Pustule, Crusting erythematous dermatitis, Erythroderma ORPHA:79481
Keratolytic Winter Erythema
Pustule ORPHA:50943
Absence Of Fingerprints-Congenital Milia Syndrome
Thin skin, Skin rash ORPHA:1658
Complement Component 5 Deficiency
Generalized seborrheic dermatitis OMIM:609536
Palmoplantar Carcinoma, Multiple Self-Healing
Cutaneous macular amyloidosis, Amyloidosis OMIM:615225
Mycosis Fungoides
Pruritus, Eczema, Psoriasiform dermatitis OMIM:254400
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level, Late onset atopic dermatitis OMIM:221700
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:617113
Congenital Lethal Erythroderma
Congenital exfoliative erythroderma ORPHA:1954
Hartnup Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:234500
Bullous Impetigo
Septic arthritis, Recurrent bacterial skin infections, Pustule ORPHA:36237
Developmental And Epileptic Encephalopathy 104
Hyperactivity, Agitation OMIM:619970
Immunodeficiency 85 And Autoimmunity
Decreased circulating total IgM, Oligoarthritis, Decreased circulating IgA level, Decreased circu... OMIM:619510
Acys Amyloidosis
Cerebral amyloid angiopathy, Amyloidosis ORPHA:100008
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hyperammonemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Periportal fibr... OMIM:201475
Alopecia-Intellectual Disability Syndrome 4
Erythroderma OMIM:618840
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity OMIM:301076
Psoriasis 15, Pustular, Susceptibility To
Psoriasiform dermatitis OMIM:616106
S├ęzary Syndrome
Pruritus, Abnormal immunoglobulin level, Erythroderma, Edema ORPHA:3162
Lamellar Ichthyosis
Pruritus, Chronic otitis media, Dehydration, Erythroderma ORPHA:313
Chilblain Lupus
Malar rash, Inflammatory abnormality of the skin, Increased circulating antibody level, Skin rash... ORPHA:90280
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Acute hepatic failure, Hyperammonemia, Abnormal circulating acetylcarnitine concentration, Increa... ORPHA:71212
Autosomal Dominant Epidermolytic Ichthyosis
Erythroderma ORPHA:312
Primary Sclerosing Cholangitis
Hepatosplenomegaly, Acute hepatic failure, Hepatocellular carcinoma, Jaundice, Cholestasis, Pancr... ORPHA:171
Dermatitis, Atopic
Atopic dermatitis, Pruritus, Recurrent skin infections, Allergic rhinitis, Eczema, Conjunctivitis OMIM:603165
Wiskott-Aldrich Syndrome 2
Eczema, Defective T cell proliferation, Reduced natural killer cell activity OMIM:614493
Familial Mediterranean Fever
Peritonitis, Elevated circulating amyloid A, Renal amyloidosis, Hepatomegaly, Elevated circulatin... OMIM:249100
Netherton Syndrome
Dehydration, Skin rash, Increased circulating IgE level, Decreased circulating antibody level, Ec... ORPHA:634
Immunodeficiency 58
Chronic otitis media, Recurrent cutaneous abscess formation, Decreased specific antibody response... OMIM:618131
Idiopathic Trachyonychia
Amyloidosis ORPHA:79153
Aapoaiv Amyloidosis
Renal interstitial amyloid deposits, Cutaneous amyloidosis, Renal amyloidosis, Cardiac amyloidosi... ORPHA:439232
Carcinoid Syndrome
Abnormal B-type natriuretic peptide concentration, Elevated hepatic transaminase, Hepatic necrosis ORPHA:100093
Periodic Fever, Familial, Autosomal Dominant
Hepatic amyloidosis, Hepatomegaly, AA amyloidosis OMIM:142680
Intellectual Developmental Disorder, X-Linked 109
Impulsivity, Hyperactivity, Agitation OMIM:309548
Pressure-Induced Localized Lipoatrophy
Inflammatory abnormality of the skin ORPHA:90160
Elastoderma
Erysipelas, Eczema ORPHA:228240
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Agitation ORPHA:100973
Omenn Syndrome
Edema, Pruritus, Pneumonia, Thyroiditis, Erythroderma ORPHA:39041
Ichthyosis With Confetti
Pruritus, Erythroderma OMIM:609165
Harlequin Ichthyosis
Dehydration, Erythroderma ORPHA:457
Protoporphyria, Erythropoietic, 1
Pruritus, Eczema, Edema OMIM:177000
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Acne, Seborrheic dermatitis OMIM:614441
Ichthyosis, Hystrix-Like, With Deafness
Erythroderma, Punctate keratitis OMIM:602540
Copper Deficiency, Familial Benign
Seborrheic dermatitis OMIM:121270
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatic steatosis, Hepatic necrosis, Fulminant hepatic failure OMIM:231530
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Gjc2-Related Late-Onset Primary Lymphedema
Predominantly lower limb lymphedema, Genital edema, Facial edema, Recurrent skin infections, Edem... ORPHA:568051
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased specific anti-polysaccharide antibody level, Increased circulating IgE level, Decreased... OMIM:606367
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Glycine Encephalopathy 1
Hyperactivity, Restlessness, Impulsivity OMIM:605899
Mal De Meleda
Superficial dermal perivascular inflammatory infiltrate, Inflammatory abnormality of the skin ORPHA:87503
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity OMIM:619031
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Glomerulonephritis, Increased circulating IgE level, Arthritis, Hepatitis, Eczema, Erythroderma OMIM:304790
Panniculitis-Induced Localized Lipodystrophy
Abnormal immunoglobulin level, Inflammatory abnormality of the skin ORPHA:90159
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Atopic dermatitis, Increased circulating IgE level, Chronic mucocutaneous candidiasis, Decreased ... OMIM:618282
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Increased circulating IgE level, Recurrent skin infections, Psoriasiform dermatitis, Eosinophilic... OMIM:615508
Ichthyosis, Congenital, Autosomal Recessive 5
Erythroderma OMIM:604777
Agammaglobulinemia 7, Autosomal Recessive
Panhypogammaglobulinemia, Erythema nodosum, Agammaglobulinemia OMIM:615214
Interstitial Granulomatous Dermatitis With Arthritis
Pruritus, Inflammatory abnormality of the skin, Rheumatoid arthritis ORPHA:79099
Multiple Acyl-Coa Dehydrogenase Deficiency
Hyperammonemia, Elevated circulating acylcarnitine concentration, Hepatomegaly, Elevated hepatic ... ORPHA:26791
Ichthyosis, Congenital, Autosomal Recessive 9
Erythroderma OMIM:615023
Amyloidosis, Hereditary, Transthyretin-Related
Amyloidosis OMIM:105210
Q Fever
Hepatosplenomegaly, Abnormality of the liver, Hepatomegaly, Elevated hepatic transaminase, Hepati... ORPHA:781
Meige Disease
Edema of the dorsum of hands, Recurrent bacterial skin infections, Periorbital edema, Facial edem... ORPHA:90186
Diffuse Cutaneous Mastocytosis
Pruritus, Peau d'orange, Erythroderma ORPHA:79456
Leigh Syndrome
Hepatocellular necrosis OMIM:256000
Ameloonychohypohidrotic Syndrome
Seborrheic dermatitis OMIM:104570
Autosomal Erythropoietic Protoporphyria
Pruritus, Eczema, Edema ORPHA:79278
Inflammatory Bowel Disease 25, Autosomal Recessive
Perianal abscess, Pancolitis, Enterocolitis, Folliculitis OMIM:612567
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Hepatocellular Carcinoma
Abnormality of the hepatic vasculature, Hemobilia, Jaundice, Liver abscess, Abnormality of the li... ORPHA:88673
Spinocerebellar Ataxia 34
Erythroderma OMIM:133190
Ichthyosis, Congenital, Autosomal Recessive 1
Erythroderma OMIM:242300
Familial Hemophagocytic Lymphohistiocytosis
Maculopapular exanthema, Skin rash, Colitis, Reduced natural killer cell activity, Infectious enc... ORPHA:540
Papa Syndrome
Increased inflammatory response, Increased circulating antibody level, Pustule, Arthritis, Acne, ... ORPHA:69126
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant
Acne, Seborrheic dermatitis OMIM:167100
Multiple Acyl-Coa Dehydrogenase Deficiency
Jaundice, Hepatomegaly, Elevated circulating glutaric acid concentration, Hepatic steatosis, Hepa... OMIM:231680
Systemic Mastocytosis With Associated Hematologic Neoplasm
Hepatomegaly, Splenomegaly, Amyloidosis ORPHA:98849
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Hepatocellular carcinoma, Jaundice, Elevated circulating aspartate aminotr... OMIM:256810
Majeed Syndrome
Joint swelling, Inflammatory abnormality of the skin, Osteomyelitis, Skin rash OMIM:609628
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Increased circulating IgA level, Increased circulating antibody level, Increased circulating IgE ... ORPHA:169154
Ichthyosis, Congenital, Autosomal Recessive 6
Erythroderma OMIM:612281
Bathing Suit Ichthyosis
Erythroderma ORPHA:100976
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
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Inflammation of the large intestine, Lymphadenitis, Thin skin, Eczema, Erythroderma OMIM:615895
Zinc Deficiency, Transient Neonatal
Eczema OMIM:608118
Intellectual Developmental Disorder, Autosomal Dominant 67
Attention deficit hyperactivity disorder, Hyperactivity OMIM:619927
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Inflammation of the large intestine, Edema, Skin rash, Arthritis, Pruritus, Acne, Osteomyelitis, ... ORPHA:324964
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, Skin rash, Partial absence of specific antibody response to ... OMIM:618108
Idiopathic Localized Lipodystrophy
Pruritus, Inflammatory abnormality of the skin ORPHA:90158
Melkersson-Rosenthal Syndrome
Cheilitis, Periorbital edema, Inflammatory abnormality of the skin, Edema ORPHA:2483
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Conjunctivitis, Erythroderma OMIM:242150
Pachydermoperiostosis
Eczematoid dermatitis, Joint swelling, Edema, Arthritis, Acne, Seborrheic dermatitis, Osteomyelitis ORPHA:2796
Histidinemia
Hyperactivity ORPHA:2157
Congenital Disorder Of Glycosylation, Type If
Erythroderma OMIM:609180
Yao Syndrome
Inflammatory abnormality of the skin, Skin rash, Keratoconjunctivitis sicca, Xerostomia, Arthriti... OMIM:617321
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Inflammatory abnormality of the skin, Increased circulating IgE level, Recurrent otitis media, Si... ORPHA:277
Biotinidase Deficiency
Seborrheic dermatitis, Conjunctivitis, Recurrent skin infections, Skin rash OMIM:253260
Letterer-Siwe Disease
Seborrheic dermatitis, Stomatitis OMIM:246400
Chondrodysplasia Punctata 2, X-Linked Dominant
Polyhydramnios, Erythroderma, Edema OMIM:302960
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Cutaneous amyloidosis OMIM:301220
Sapho Syndrome
Inflammation of the large intestine, Enthesitis, Skin rash, Pustule, Edema, Arthritis, Acne, Recu... ORPHA:793
Idiopathic Hypereosinophilic Syndrome
Cholangitis, Inflammatory abnormality of the skin, Joint swelling, Chronic hepatitis, Angioedema,... ORPHA:3260
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Eczematoid dermatitis, Seborrheic dermatitis, Arthritis OMIM:259100
Omenn Syndrome
Erythroderma, Pneumonia OMIM:603554
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Decreased circulating antibody level, Erythroderma OMIM:617425
Dyskeratosis Congenita, Autosomal Dominant 1
Hepatic necrosis, Cirrhosis OMIM:127550
X-Linked Dominant Chondrodysplasia Punctata
Erythroderma ORPHA:35173
Trichothiodystrophy 1, Photosensitive
Keratoconjunctivitis sicca, Erythroderma, Decreased circulating IgG level OMIM:601675
Transketolase Deficiency
Seborrheic dermatitis, Uveitis, Conjunctivitis ORPHA:488618
Acute Liver Failure
Jaundice, Hyperammonemia, Elevated hepatic transaminase, Hepatitis, Hepatic periportal necrosis, ... ORPHA:90062
Majeed Syndrome
Inflammatory abnormality of the skin, Edema, Pustule, Acne, Osteomyelitis, Abnormal inflammatory ... ORPHA:77297
X-Linked Lymphoproliferative Disease
Hepatosplenomegaly, Fulminant hepatitis, Elevated hepatic transaminase, Splenomegaly, Hypertrigly... ORPHA:2442
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatosplenomegaly, Hepatomegaly, Unconjugated hyperbilirubinemia, Microvesicular hepatic steatos... OMIM:618278
Familial Cold Autoinflammatory Syndrome 1
Renal amyloidosis, Elevated circulating C-reactive protein concentration OMIM:120100
Muckle-Wells Syndrome
Renal amyloidosis, Elevated circulating C-reactive protein concentration OMIM:191900
Vexas Syndrome
Inflammatory abnormality of the skin, Nasal chondritis, Arthritis, Arteritis, Neutrophilic infilt... OMIM:301054
Blau Syndrome
Joint swelling, Uveitis, Cystoid macular edema, Arthritis, Iritis, Nongranulomatous uveitis, Ecze... OMIM:186580
Centrifugal Lipodystrophy
Inflammatory abnormality of the skin, Lymphadenitis ORPHA:90156
Multiple Endocrine Neoplasia, Type Iia
Cutaneous lichen amyloidosis OMIM:171400
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Seborrheic dermatitis OMIM:210210
Trichothiodystrophy
Congenital exfoliative erythroderma, Keratoconjunctivitis sicca, Panhypogammaglobulinemia, Eczema... ORPHA:33364
Familial Mediterranean Fever, Autosomal Dominant
Peritonitis, Renal amyloidosis OMIM:134610
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Seborrheic dermatitis, Aspiration pneumonia, Ascites OMIM:301072
Monosomy 22
Seborrheic dermatitis, Joint swelling ORPHA:96123
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Eczematoid dermatitis, Inflammatory abnormality of the skin, Tubulointerstitial nephritis, Increa... ORPHA:37042
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Seborrheic dermatitis, Eczema ORPHA:369950
Lysinuric Protein Intolerance
Hyperalaninemia, Hepatomegaly, Hepatosplenomegaly, Increased LDL cholesterol concentration, Hyper... ORPHA:470
Hemihyperplasia-Multiple Lipomatosis Syndrome
Seborrheic dermatitis ORPHA:276280
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Polyhydramnios, Seborrheic dermatitis, Hydrops fetalis OMIM:300868
Multiple Endocrine Neoplasia Type 2
Neoplasm of the liver, Cutaneous lichen amyloidosis, Hypercalcemia ORPHA:653
Thrombocytopenia-Absent Radius Syndrome
Seborrheic dermatitis, Decreased circulating antibody level, Edema of the dorsum of feet, Edema o... OMIM:274000
Inherited Creutzfeldt-Jakob Disease
Amyloidosis of peripheral nerves ORPHA:282166
Uremic Pruritus
Pruritus, Recurrent skin infections, Inflammatory abnormality of the skin ORPHA:94059
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Superficial dermal perivascular inflammatory infiltrate, Decreased circulating total IgM, Pruritu... ORPHA:83617
Muckle-Wells Syndrome
Renal amyloidosis, Hepatomegaly, Splenomegaly ORPHA:575
22Q11.2 Deletion Syndrome
Chronic otitis media, Polyhydramnios, Impaired T cell function, Arthritis, Acne, Seborrheic derma... ORPHA:567
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Decreased circulating total IgM, Inflammatory abnormality of the skin, Decreased circulating IgG2... OMIM:102700
Attrv122I Amyloidosis
Cardiac amyloidosis, Increased circulating NT-proBNP concentration ORPHA:85451
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Hydromyelia, Recurrent skin infections, Oligohydramnios, Eczema, Keratitis, Erythroderma OMIM:308205
Familial Gestational Hyperthyroidism
Hyperactivity, Agitation ORPHA:99819
Digeorge Syndrome
Impaired T cell function, Acne, Seborrheic dermatitis, Recurrent pneumonia, Recurrent otitis medi... OMIM:188400
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Renal amyloidosis, Decreased serum zinc, Decreased plasma total carnitine, Abnormal circulating s... 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.

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
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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