Gene Summary

membrane metallo endopeptidase
CD10,  6030454K05Rik,  NEP,  neprilysin,  neutral endopeptidase

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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.


XRay Images Whole Body Dorso Ventral

30 Images


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

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

Disease Similarity of
Matching phenotypes Source
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
Chronic furunculosis, Recurrent cutaneous abscess formation, Acne inversa, Perifolliculitis OMIM:613737
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder OMIM:618830
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7
Attention deficit hyperactivity disorder OMIM:613003
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Dissecting Cellulitis Of The Scalp
Edema, Pruritus, Recurrent skin infections ORPHA:345
Acne Inversa, Familial, 1
Acne inversa OMIM:142690
Chilblain Lupus 2
Chilblains OMIM:614415
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Linear Atrophoderma Of Moulin
Pruritus, Inflammatory abnormality of the skin ORPHA:140933
Immunodeficiency 51
Recurrent cutaneous fungal infections, Chronic oral candidiasis, Folliculitis, Chronic furunculos... OMIM:613953
Benign Cephalic Histiocytosis
Skin rash, Inflammatory abnormality of the skin ORPHA:157997
Lymphatic Malformation 3
Lymphedema, Recurrent skin infections OMIM:613480
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Kerion Celsi
Recurrent skin infections, Recurrent cutaneous abscess formation, Inflammatory abnormality of the... ORPHA:499
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Paget Disease, Extramammary
Eczematoid dermatitis OMIM:167300
Hemochromatosis, Neonatal
Hepatic failure, Hepatic fibrosis, Cirrhosis, Abnormality of iron homeostasis, Hepatocellular nec... OMIM:231100
Bullous Diffuse Cutaneous Mastocytosis
Pruritus, Cutaneous mastocytosis, Erythroderma ORPHA:280785
Chronic Actinic Dermatitis
Late onset atopic dermatitis, Allergic rhinitis, Eczema, Erythroderma, Pruritus 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
Hepatic fibrosis, Hepatic necrosis, Elevated circulating alpha-fetoprotein concentration, Portal ... ORPHA:33402
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Chronic furunculosis, Recurrent cutaneous abscess formation, Acne inversa, Perifolliculitis OMIM:613736
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection
Chronic furunculosis, Cutaneous abscess OMIM:619986
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Perifolliculitis OMIM:260910
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Pityriasis Rubra Pilaris
Pustule, Pruritus, Eczema, Erythroderma ORPHA:2897
Variant Abeta2M Amyloidosis
Cutaneous amyloidosis, Amyloidosis of peripheral nerves, Cardiac amyloidosis, Renal amyloidosis, ... ORPHA:314652
Amyloidosis, Familial Visceral
Splenomegaly, Generalized amyloid deposition, Cholestasis, Hepatomegaly OMIM:105200
Erythroderma Desquamativum
Seborrheic dermatitis ORPHA:314
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
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Verrucous Hemangioma
Inflammatory abnormality of the skin ORPHA:464318
Familial Reactive Perforating Collagenosis
Perifolliculitis, Inflammatory abnormality of the skin, Crusting erythematous dermatitis, Pruritu... ORPHA:79147
Erythrokeratodermia Variabilis Et Progressiva 1
Erythroderma OMIM:133200
Amyloidosis, Primary Localized Cutaneous, 1
Amyloidosis OMIM:105250
Candidiasis, Familial, 8
Seborrheic dermatitis, Chronic oral candidiasis, Cheilitis, Blepharitis OMIM:615527
Epidermolytic Hyperkeratosis
Erythroderma OMIM:113800
African Iron Overload
Hepatic fibrosis, Hepatitis, Elevated transferrin saturation, Hepatocellular carcinoma, Hepatic b... ORPHA:139507
Mental Retardation And Psoriasis
Psoriasiform dermatitis OMIM:309480
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Seborrhea-Like Dermatitis With Psoriasiform Elements
Seborrheic dermatitis OMIM:610227
Ichthyosis Prematurity Syndrome
Polyhydramnios, Pruritus, Erythroderma, Allergic rhinitis OMIM:608649
Ige Responsiveness, Atopic
Increased circulating IgE level, Eczema, Allergic rhinitis OMIM:147050
Immunodeficiency 15A
Acne inversa, Cutaneous abscess, Recurrent otitis media, Recurrent sinusitis, Chronic mucocutaneo... OMIM:618204
Cerebral Amyloid Angiopathy, Cst3-Related
Generalized amyloid deposition OMIM:105150
Immunodeficiency 66
Defective T cell proliferation, Pustule, Recurrent skin infections OMIM:618847
Aa Amyloidosis
Renal amyloidosis, Amyloidosis, Cholestasis, Hepatomegaly ORPHA:85445
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder OMIM:301008
Ichthyosis, Congenital, Autosomal Recessive 10
Erythroderma OMIM:615024
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Decreased circulating total IgM, Cutaneous abscess, Recurrent otitis media, Recurrent skin infect... OMIM:618944
Epidermodysplasia Verruciformis
Pustule, Seborrheic dermatitis, Recurrent skin infections ORPHA:302
Immunodeficiency 25
Complete or near-complete absence of specific antibody response to tetanus vaccine, Decreased cir... OMIM:610163
Inflammatory Skin And Bowel Disease, Neonatal, 1
Pustule, Blepharitis, Increased circulating IgE level, Erythroderma OMIM:614328
Erythrokeratodermia Variabilis Et Progressiva 6
Superficial dermal perivascular inflammatory infiltrate, Pruritus OMIM:618531
Agammaglobulinemia 9, Autosomal Recessive
Eczematoid dermatitis, Agammaglobulinemia, Seborrheic dermatitis OMIM:619693
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Chronic oral candidiasis, Increased circulating antibody level, Hepatitis, Decreased circulating ... ORPHA:169160
Quinquaud Folliculitis Decalvans
Pustule, Recurrent skin infections ORPHA:346
Peeling Skin Syndrome 1
Pruritus, Increased circulating IgE level, Erythroderma OMIM:270300
Immunodeficiency 50
Eczema, Decreased circulating antibody level OMIM:300988
Inflammatory Bowel Disease 28, Autosomal Recessive
Crohn's disease, Enterocolitis, Perianal abscess, Folliculitis, Pyoderma, Colitis OMIM:613148
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatic failure, Periportal fibrosis, Hepatocellular necrosis, Depletion of mitochondrial DNA in ... OMIM:251880
Drug Reaction With Eosinophilia And Systemic Symptoms
Tubulointerstitial nephritis, Angioedema, Hepatitis, Skin rash, Thyroiditis, Interstitial pneumon... ORPHA:139402
Congenital Non-Bullous Ichthyosiform Erythroderma
Keratitis, Pruritus, Erythroderma ORPHA:79394
Netherton Syndrome
Hypernatremic dehydration, Allergic rhinitis, Erythroderma, Angioedema, Increased circulating IgE... OMIM:256500
Pemphigus Foliaceus
Pruritus, Crusting erythematous dermatitis, Pustule, Erythroderma, Psoriasiform dermatitis ORPHA:79481
Absence Of Fingerprints-Congenital Milia Syndrome
Skin rash, Thin skin ORPHA:1658
Keratolytic Winter Erythema
Pustule ORPHA:50943
Complement Component 5 Deficiency
Generalized seborrheic dermatitis OMIM:609536
Palmoplantar Carcinoma, Multiple Self-Healing
Amyloidosis, Cutaneous macular amyloidosis OMIM:615225
Mycosis Fungoides
Psoriasiform dermatitis, Pruritus, Eczema OMIM:254400
Deafness, Neural, With Atypical Atopic Dermatitis
Late onset atopic dermatitis, Increased circulating IgE level OMIM:221700
Developmental And Epileptic Encephalopathy 43
Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder OMIM:617113
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Recurrent skin infections, Psoriasiform dermatitis, Erythroderma OMIM:615508
Congenital Lethal Erythroderma
Congenital exfoliative erythroderma ORPHA:1954
Bullous Impetigo
Septic arthritis, Recurrent bacterial skin infections, Pustule ORPHA:36237
Immunodeficiency 85 And Autoimmunity
Oligoarthritis, Decreased circulating total IgM, Eczema, Decreased circulating IgE, Decreased cir... OMIM:619510
Acys Amyloidosis
Cerebral amyloid angiopathy, Amyloidosis ORPHA:100008
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Periportal fibrosis, Hepatocellular necrosis, Decreased plasma carnitine, Elevated circulating cr... OMIM:201475
Psoriasis 15, Pustular, Susceptibility To
Psoriasiform dermatitis OMIM:616106
S├ęzary Syndrome
Abnormal immunoglobulin level, Edema, Pruritus, Erythroderma ORPHA:3162
Lamellar Ichthyosis
Dehydration, Pruritus, Chronic otitis media, Erythroderma ORPHA:313
Chilblain Lupus
Pruritis on hand, Malar rash, Inflammatory abnormality of the skin, Discoid lupus rash, Skin rash... ORPHA:90280
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Increased C-peptide level, Increased circulating free fatty acid level, Hepatic necrosis, Decreas... ORPHA:71212
Hartnup Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:234500
Developmental And Epileptic Encephalopathy 104
Hyperactivity, Agitation OMIM:619970
Autosomal Dominant Epidermolytic Ichthyosis
Erythroderma ORPHA:312
Alopecia-Intellectual Disability Syndrome 4
Erythroderma OMIM:618840
Primary Sclerosing Cholangitis
Hepatic fibrosis, Cirrhosis, Hepatitis, Jaundice, Amyloidosis, Cholangiocarcinoma, Elevated hepat... ORPHA:171
Dermatitis, Atopic
Conjunctivitis, Allergic rhinitis, Eczema, Recurrent skin infections, Pruritus, Atopic dermatitis OMIM:603165
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Eczema, Reduced natural killer cell activity OMIM:614493
Familial Mediterranean Fever
Peritonitis, Amyloidosis, Elevated circulating C-reactive protein concentration, Hepatomegaly, Re... OMIM:249100
Netherton Syndrome
Decreased circulating antibody level, Skin rash, Eczema, Erythroderma, Dehydration, Increased cir... ORPHA:634
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
Immunodeficiency 58
Molluscum contagiosum, Recurrent aphthous stomatitis, Decreased T cell activation, Bronchiectasis... OMIM:618131
Idiopathic Trachyonychia
Amyloidosis ORPHA:79153
Aapoaiv Amyloidosis
Renal interstitial amyloid deposits, Cutaneous amyloidosis, Cardiac amyloidosis, Hyperlipidemia, ... ORPHA:439232
Carcinoid Syndrome
Hepatic necrosis, Elevated hepatic transaminase, Abnormal B-type natriuretic peptide concentration ORPHA:100093
Intellectual Developmental Disorder, X-Linked 109
Impulsivity, Hyperactivity, Agitation OMIM:309548
Periodic Fever, Familial, Autosomal Dominant
Hepatic amyloidosis, AA amyloidosis, Hepatomegaly OMIM:142680
Pressure-Induced Localized Lipoatrophy
Inflammatory abnormality of the skin ORPHA:90160
Eczema, Erysipelas ORPHA:228240
Amyloidosis, Hereditary, Transthyretin-Related
Amyloidosis OMIM:105210
Omenn Syndrome
Thyroiditis, Edema, Erythroderma, Pruritus, Pneumonia ORPHA:39041
Protoporphyria, Erythropoietic, 1
Edema, Pruritus, Eczema OMIM:177000
Harlequin Ichthyosis
Dehydration, Erythroderma ORPHA:457
Ichthyosis With Confetti
Pruritus, Erythroderma OMIM:609165
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Seborrheic dermatitis, Acne OMIM:614441
Ichthyosis, Hystrix-Like, With Deafness
Punctate keratitis, Erythroderma OMIM:602540
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity OMIM:301076
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
Pedal edema, Edema of the dorsum of hands, Predominantly lower limb lymphedema, Recurrent skin in... ORPHA:568051
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Chronic oral candidiasis, Thyroiditis, Eczema, Decreased circulating IgA level, Erythroderma, Pso... OMIM:606367
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Glycine Encephalopathy
Impulsivity, Hyperactivity, Restlessness OMIM:605899
Mal De Meleda
Superficial dermal perivascular inflammatory infiltrate, Inflammatory abnormality of the skin ORPHA:87503
Panniculitis-Induced Localized Lipodystrophy
Abnormal immunoglobulin level, Inflammatory abnormality of the skin ORPHA:90159
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Osteomyelitis, Chronic oral candidiasis, Bronchiectasis, Recurrent sinusitis, Eczema, Recurrent o... OMIM:618282
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Panhypogammaglobulinemia, Erythema nodosum OMIM:615214
Ichthyosis, Congenital, Autosomal Recessive 5
Erythroderma OMIM:604777
Interstitial Granulomatous Dermatitis With Arthritis
Inflammatory abnormality of the skin, Pruritus, Rheumatoid arthritis ORPHA:79099
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Hepatitis, Arthritis, Eczema, Glomerulonephritis, Erythroderma, Increased circulating IgE level OMIM:304790
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Decreased plasma carnitine, Elevated hepatic tr... ORPHA:26791
Q Fever
Abnormality of the liver, Hepatitis, Amyloidosis, Elevated hepatic transaminase, Hepatosplenomega... ORPHA:781
Meige Disease
Recurrent bacterial skin infections, Pedal edema, Lymphedema, Edema of the dorsum of hands, Predo... ORPHA:90186
Diffuse Cutaneous Mastocytosis
Pruritus, Peau d'orange, Erythroderma ORPHA:79456
Leigh Syndrome
Hepatocellular necrosis OMIM:256000
Ameloonychohypohidrotic Syndrome
Seborrheic dermatitis OMIM:104570
Ichthyosis, Congenital, Autosomal Recessive 9
Erythroderma OMIM:615023
Autosomal Erythropoietic Protoporphyria
Edema, Pruritus, Eczema ORPHA:79278
Inflammatory Bowel Disease 25, Autosomal Recessive
Pancolitis, Enterocolitis, Perianal abscess, Folliculitis OMIM:612567
Hepatocellular Carcinoma
Abnormality of the liver, Liver abscess, Hepatic necrosis, Jaundice, Hypokalemia, Elevated hepati... ORPHA:88673
Spinocerebellar Ataxia 34
Erythroderma OMIM:133190
Ichthyosis, Congenital, Autosomal Recessive 1
Erythroderma OMIM:242300
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Crohn's disease, Increased circulating antibody level, Arthritis, Myositis, Pustule, Increased in... ORPHA:69126
Familial Hemophagocytic Lymphohistiocytosis
Erythroderma, Reduced natural killer cell activity, Decreased circulating antibody level, Skin ra... ORPHA:540
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant
Seborrheic dermatitis, Acne OMIM:167100
Multiple Acyl-Coa Dehydrogenase Deficiency
Jaundice, Hepatic steatosis, Elevated circulating glutaric acid concentration, Hepatomegaly, Hepa... OMIM:231680
Systemic Mastocytosis With Associated Hematologic Neoplasm
Amyloidosis, Splenomegaly, Hepatomegaly ORPHA:98849
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Elevated circulating alanine aminotransferase concentration, Cirrhosis, Hepatic failure, Microves... OMIM:256810
Majeed Syndrome
Skin rash, Osteomyelitis, Joint swelling, Inflammatory abnormality of the skin OMIM:609628
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Increased circulating antibody level, Increased circulating IgE level, Increased circulating IgA ... ORPHA:169154
Bullous Pemphigoid
Psoriasiform dermatitis, Eczema ORPHA:703
Bathing Suit Ichthyosis
Erythroderma ORPHA:100976
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Systemic-Onset Juvenile Idiopathic Arthritis
Juvenile rheumatoid arthritis, Skin rash, Pericarditis, Pleural effusion, Joint swelling, Anterio... ORPHA:85414
Ichthyosis, Congenital, Autosomal Recessive 6
Erythroderma OMIM:612281
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Lymphadenitis, Thin skin, Eczema, Inflammation of the large intestine, Erythroderma OMIM:615895
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Osteomyelitis, Pruritus, Skin rash, Arthritis, Inflammation of the large intestine, Edema, Psoria... ORPHA:324964
Zinc Deficiency, Transient Neonatal
Eczema OMIM:608118
Immunodeficiency 57 With Autoinflammation
Perianal abscess, Bronchiectasis, Decreased circulating antibody level, Skin rash, Inflammation o... OMIM:618108
Idiopathic Localized Lipodystrophy
Pruritus, Inflammatory abnormality of the skin ORPHA:90158
Hyperactivity ORPHA:2157
Melkersson-Rosenthal Syndrome
Edema, Periorbital edema, Cheilitis, Inflammatory abnormality of the skin ORPHA:2483
Osteomyelitis, Arthritis, Edema, Joint swelling, Eczematoid dermatitis, Seborrheic dermatitis, Acne ORPHA:2796
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Conjunctivitis, Erythroderma OMIM:242150
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lack of T cell function, Inflammatory abnormality of the skin, Recurrent otitis media, Recurrent ... ORPHA:277
Yao Syndrome
Inflammatory abnormality of the skin, Arthritis, Skin rash, Keratoconjunctivitis sicca, Pericardi... OMIM:617321
Biotinidase Deficiency
Conjunctivitis, Skin rash, Seborrheic dermatitis, Recurrent skin infections OMIM:253260
Congenital Disorder Of Glycosylation, Type If
Erythroderma OMIM:609180
Letterer-Siwe Disease
Stomatitis, Seborrheic dermatitis OMIM:246400
Chondrodysplasia Punctata 2, X-Linked Dominant
Polyhydramnios, Edema, Erythroderma OMIM:302960
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Cutaneous amyloidosis OMIM:301220
Sapho Syndrome
Osteomyelitis, Enthesitis, Skin rash, Arthritis, Synovitis, Inflammation of the large intestine, ... ORPHA:793
Idiopathic Hypereosinophilic Syndrome
Angioedema, Erythroderma, Inflammatory abnormality of the skin, Arthritis, Eczema, Cholangitis, P... ORPHA:3260
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Eczematoid dermatitis, Arthritis, Seborrheic dermatitis OMIM:259100
Omenn Syndrome
Pneumonia, Erythroderma 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, Decreased circulating IgG level, Erythroderma OMIM:601675
Acute Liver Failure
Hepatocellular necrosis, Hepatic necrosis, Jaundice, Hepatitis, Elevated hepatic transaminase, Hy... ORPHA:90062
Majeed Syndrome
Osteomyelitis, Inflammatory abnormality of the skin, Synovitis, Pustule, Edema, Abnormal inflamma... ORPHA:77297
X-Linked Lymphoproliferative Disease
Hepatic failure, Fulminant hepatitis, Hepatic necrosis, Elevated hepatic transaminase, Hepatosple... ORPHA:2442
Transketolase Deficiency
Conjunctivitis, Seborrheic dermatitis, Uveitis ORPHA:488618
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Microvesicular hepatic steatosis, Hepatocellular necrosis, Unconjugated hyperbilirubinemia, Hepat... 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, Arthritis, Neutrophilic infiltration of the skin, Nasal cho... OMIM:301054
Blau Syndrome
Erythema nodosum, Iritis, Arthritis, Synovitis, Eczema, Uveitis, Pericarditis, Nongranulomatous u... OMIM:186580
Centrifugal Lipodystrophy
Lymphadenitis, Inflammatory abnormality of the skin ORPHA:90156
Multiple Endocrine Neoplasia, Type Iia
Cutaneous lichen amyloidosis OMIM:171400
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Seborrheic dermatitis OMIM:210210
Conjunctivitis, Panhypogammaglobulinemia, Keratoconjunctivitis sicca, Eczema, Congenital exfoliat... ORPHA:33364
Familial Mediterranean Fever, Autosomal Dominant
Renal amyloidosis, Peritonitis OMIM:134610
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Ascites, Aspiration pneumonia, Seborrheic dermatitis OMIM:301072
Monosomy 22
Joint swelling, Seborrheic dermatitis ORPHA:96123
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Tubulointerstitial nephritis, Osteomyelitis, Crusting erythematous dermatitis, Hepatitis, Inflamm... ORPHA:37042
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Eczema, Seborrheic dermatitis ORPHA:369950
Hemihyperplasia-Multiple Lipomatosis Syndrome
Seborrheic dermatitis ORPHA:276280
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Polyhydramnios, Hydrops fetalis, Seborrheic dermatitis OMIM:300868
Multiple Endocrine Neoplasia Type 2
Neoplasm of the liver, Hypercalcemia, Cutaneous lichen amyloidosis ORPHA:653
Thrombocytopenia-Absent Radius Syndrome
Edema of the dorsum of hands, Edema of the dorsum of feet, Seborrheic dermatitis, Decreased circu... OMIM:274000
Lysinuric Protein Intolerance
Elevated hepatic transaminase, Hepatosplenomegaly, Hepatomegaly, Hypercholesterolemia, Increased ... ORPHA:470
Uremic Pruritus
Recurrent skin infections, Pruritus, Inflammatory abnormality of the skin ORPHA:94059
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Decreased circulating total IgM, Eczema, Superficial dermal perivascular inflammatory infiltrate,... ORPHA:83617
22Q11.2 Deletion Syndrome
Polyhydramnios, Arthritis, Impaired T cell function, Chronic otitis media, Seborrheic dermatitis,... ORPHA:567
Muckle-Wells Syndrome
Renal amyloidosis, Splenomegaly, Hepatomegaly ORPHA:575
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, Skin rash, Absent specific... OMIM:102700
Attrv122I Amyloidosis
Cardiac amyloidosis, Increased circulating NT-proBNP concentration ORPHA:85451
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Erythroderma, Hydromyelia, Eczema, Oligohydramnios, Recurrent skin infections, Keratitis OMIM:308205
Inherited Creutzfeldt-Jakob Disease
Amyloidosis of peripheral nerves ORPHA:282166
Digeorge Syndrome
Recurrent sinusitis, Recurrent otitis media, Recurrent pneumonia, Impaired T cell function, Sebor... OMIM:188400
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Abnormal circulating selenium concentration, Renal amyloidosis, Decreased serum zinc, Decreased p... ORPHA:79408
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Glomerulonephritis ORPHA:69063
Spinocerebellar Ataxia Type 43
Spinocerebellar Ataxia 43
Charcot-Marie-Tooth Disease, Axonal, Type 2T


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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