Gene Summary

Name:
membrane metallo endopeptidase
Synonyms:
CD10,  neprilysin,  6030454K05Rik,  NEP,  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
increased circulating alanine transaminase level Mmeem1(IMPC)Mbp HOM   Early adult 3.91×10-07
hyperactivity Mmeem1(IMPC)Mbp HOM Early adult 9.99×10-08

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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
Charcot-Marie-Tooth Disease, Axonal, Type 2T
Unsteady gait OMIM:617017
Spinocerebellar Ataxia Type 43
Limb ataxia, Unsteady gait, Gait ataxia, Progressive cerebellar ataxia ORPHA:497764
Spinocerebellar Ataxia 43
Limb ataxia, Gait ataxia, Ataxia OMIM:617018
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Glomerulonephritis ORPHA:69063

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Acne Inversa, Familial, 3
Recurrent cutaneous abscess formation, Chronic furunculosis, Acne inversa, Perifolliculitis OMIM:613737
Mental Retardation, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Dissecting Cellulitis Of The Scalp
Pruritus, Recurrent skin infections, Edema ORPHA:345
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Mental Retardation, Autosomal Dominant 45
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617600
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Mental Retardation, Autosomal Recessive 2
Attention deficit hyperactivity disorder OMIM:607417
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Acne Inversa, Familial, 1
Acne inversa OMIM:142690
Immunodeficiency 51
Folliculitis, Pustule, Cutaneous abscess, Chronic oral candidiasis, Recurrent otitis media, Recur... OMIM:613953
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Pentosuria
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration ORPHA:2843
Benign Cephalic Histiocytosis
Skin rash, Inflammatory abnormality of the skin ORPHA:157997
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder OMIM:618830
Lymphatic Malformation 3
Lymphedema, Recurrent skin infections OMIM:613480
Immunodeficiency 8
Hyperactivity OMIM:615401
Microcephaly 25, Primary, Autosomal Recessive
Attention deficit hyperactivity disorder OMIM:618351
Kerion Celsi
Recurrent skin infections, Recurrent cutaneous abscess formation, Inflammatory abnormality of the... ORPHA:499
Paget Disease, Extramammary
Eczematoid dermatitis OMIM:167300
Familial Reactive Perforating Collagenosis
Pruritus, Perifolliculitis, Maculopapular exanthema, Crusting erythematous dermatitis, Inflammato... ORPHA:79147
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Cirrhosis, Hepatocellular necrosis, Abnormality of ... OMIM:231100
Developmental And Epileptic Encephalopathy 43
Ataxia, Hyperactivity OMIM:617113
Bullous Diffuse Cutaneous Mastocytosis
Pruritus, Erythroderma, Cutaneous mastocytosis ORPHA:280785
Chronic Actinic Dermatitis
Pruritus, Allergic rhinitis, Erythroderma, Eczema, Late onset atopic dermatitis ORPHA:330064
Myeloma, Multiple
Amyloidosis OMIM:254500
Ichthyosis, Congenital, Autosomal Recessive 10
Erythroderma OMIM:615024
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity OMIM:309548
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Recurrent cutaneous abscess formation, Chronic furunculosis, Acne inversa, Perifolliculitis OMIM:613736
Amyloidosis, Primary Localized Cutaneous, 2
Cutaneous amyloidosis OMIM:613955
Amyloidosis, Cutaneous Bullous
Amyloidosis OMIM:204900
Erythroderma, Lethal Congenital
Congenital exfoliative erythroderma OMIM:227090
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Perifolliculitis OMIM:260910
Seborrhea-Like Dermatitis With Psoriasiform Elements
Seborrheic dermatitis OMIM:610227
Mental Retardation, Autosomal Dominant 52
Hyperactivity OMIM:617796
Pityriasis Rubra Pilaris
Pruritus, Erythroderma, Pustule, Eczema ORPHA:2897
Erythema Nodosum, Familial
Erythema nodosum OMIM:132990
Pediatric Hepatocellular Carcinoma
Hepatic fibrosis, Hepatic necrosis, Elevated alpha-fetoprotein, Hepatomegaly ORPHA:33402
Amyloidosis, Familial Visceral
Hepatomegaly, Splenomegaly, Generalized amyloid deposition, Cholestasis OMIM:105200
Erythroderma Desquamativum
Seborrheic dermatitis ORPHA:314
Amyloidosis Of Gingiva And Conjunctiva, With Mental Retardation
Amyloidosis OMIM:204850
Mannose-Binding Lectin Deficiency
Recurrent skin infections OMIM:614372
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Variant Abeta2M Amyloidosis
Cutaneous amyloidosis, Cardiac amyloidosis, Renal amyloidosis, Amyloidosis of peripheral nerves, ... ORPHA:314652
Amyloidosis, Finnish Type
Cardiac amyloidosis, Generalized amyloid deposition OMIM:105120
Ichthyosis, Congenital, Autosomal Recessive 7
Erythroderma OMIM:615022
Ichthyosis With Confetti
Erythroderma OMIM:609165
Erythrokeratodermia Variabilis Et Progressiva 1
Erythroderma OMIM:133200
Mental Retardation, Autosomal Recessive 37
Hyperactivity OMIM:615493
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Hyperactivity OMIM:616657
Mental Retardation And Psoriasis
Psoriasiform dermatitis OMIM:309480
X-Linked Intellectual Disability-Seizures-Psoriasis Syndrome
Psoriasiform dermatitis ORPHA:3052
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Epidermolytic Hyperkeratosis
Erythroderma OMIM:113800
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Ige Responsiveness, Atopic
Eczema, Allergic rhinitis, Increased circulating IgE level OMIM:147050
African Iron Overload
Peritonitis, Micronodular cirrhosis, Increased circulating ferritin concentration, Viral hepatiti... ORPHA:139507
Immunodeficiency 15A
Cutaneous abscess, Recurrent otitis media, Recurrent sinusitis, Chronic mucocutaneous candidiasis... OMIM:618204
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity ORPHA:356996
Candidiasis, Familial, 8
Seborrheic dermatitis, Blepharitis OMIM:615527
Immunodeficiency 66
Pustule, Recurrent skin infections, Defective T cell proliferation OMIM:618847
Sotos Syndrome 3
Hyperactivity OMIM:617169
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Amyloidosis, Primary Localized Cutaneous, 1
Amyloidosis OMIM:105250
Complement Component 5 Deficiency
Generalized seborrheic dermatitis OMIM:609536
Aa Amyloidosis
Amyloidosis, Hepatomegaly, Renal amyloidosis, Cholestasis ORPHA:85445
Cerebral Amyloid Angiopathy, Cst3-Related
Generalized amyloid deposition OMIM:105150
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Cutaneous abscess, Atopic dermatitis, Increased circulating IgE level, Recurrent otitis media, De... OMIM:618944
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Micronodular cirrhosis, Depletion of mitochondrial DNA in liver, Hepatocellular necrosis, Elevate... OMIM:251880
Erythrokeratodermia Variabilis Et Progressiva 6
Pruritus, Superficial dermal perivascular inflammatory infiltrate OMIM:618531
Epidermodysplasia Verruciformis
Pustule, Seborrheic dermatitis, Recurrent skin infections ORPHA:302
Quinquaud Folliculitis Decalvans
Pustule, Recurrent skin infections ORPHA:346
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Inflammatory Skin And Bowel Disease, Neonatal, 1
Pustule, Erythroderma, Blepharitis, Increased circulating IgE level OMIM:614328
Immunodeficiency 25
Recurrent pneumonia, Increased circulating IgM level, Increased circulating IgE level, Erythroder... OMIM:610163
Immunodeficiency 11B With Atopic Dermatitis
Atopic dermatitis, Pneumonia OMIM:617638
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Chronic oral candidiasis, Erythroderma, Increased circulating antibody level, Pneumonia, Hepatiti... ORPHA:169160
Immunodeficiency 50
Eczema, Decreased circulating antibody level OMIM:300988
Keratolytic Winter Erythema
Pustule ORPHA:50943
Palmoplantar Carcinoma, Multiple Self-Healing
Amyloidosis, Cutaneous macular amyloidosis OMIM:615225
Absence Of Fingerprints-Congenital Milia Syndrome
Thin skin, Skin rash ORPHA:1658
Inflammatory Bowel Disease 28, Autosomal Recessive
Folliculitis, Pyoderma, Colitis, Perianal abscess, Enterocolitis, Crohn's disease OMIM:613148
Drug Rash With Eosinophilia And Systemic Symptoms
Skin rash, Pustule, Interstitial pneumonitis, Thyroiditis, Erythroderma, Hepatitis, Tubulointerst... ORPHA:139402
Microcephaly, Seizures, And Developmental Delay
Ataxia, Hyperactivity OMIM:613402
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Gait disturbance, Dysmetria, Hyperactivity OMIM:618090
Mycosis Fungoides
Pruritus, Psoriasiform dermatitis, Eczema OMIM:254400
Congenital Non-Bullous Ichthyosiform Erythroderma
Pruritus, Keratitis, Erythroderma ORPHA:79394
Netherton Syndrome
Allergic rhinitis, Increased circulating IgE level, Erythroderma, Angioedema, Hypernatremic dehyd... OMIM:256500
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
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Diffuse Cutaneous Mastocytosis
Pruritus, Erythroderma, Cutaneous mastocytosis ORPHA:79456
Inflammatory Skin And Bowel Disease, Neonatal, 2
Pustule, Dehydration, Edema, Recurrent pneumonia OMIM:616069
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Pruritus, Atopic dermatitis, Bronchiectasis, Recurrent otitis media, Chronic mucocutaneous candid... OMIM:618282
Alopecia-Mental Retardation Syndrome 4
Erythroderma OMIM:618840
Bullous Impetigo
Pustule, Recurrent bacterial skin infections, Septic arthritis ORPHA:36237
Psoriasis 15, Pustular, Susceptibility To
Psoriasiform dermatitis OMIM:616106
Chilblain Lupus
Skin rash, Increased circulating antibody level, Pruritis on hand, Discoid lupus rash, Malar rash... ORPHA:90280
Acys Amyloidosis
Amyloidosis, Cerebral amyloid angiopathy ORPHA:100008
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Erythroderma, Psoriasiform dermatitis, Recurrent skin infections OMIM:615508
Insulin-Like Growth Factor I Deficiency
Hyperactivity OMIM:608747
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia, Dystonia, Ataxia, Hyperactivity OMIM:615924
Congenital Lethal Erythroderma
Congenital exfoliative erythroderma ORPHA:1954
Wiskott-Aldrich Syndrome 2
Eczema, Defective T cell proliferation, Reduced natural killer cell activity OMIM:614493
Dermatitis, Atopic
Pruritus, Allergic rhinitis, Atopic dermatitis, Conjunctivitis, Eczema, Recurrent skin infections OMIM:603165
Trichothiodystrophy 3, Photosensitive
Erythroderma OMIM:616395
Hyperprolinemia, Type I
Hyperactivity, Ataxia, Hyperprolinemia OMIM:239500
Ichthyosis, Hystrix-Like, With Deafness
Erythroderma, Punctate keratitis OMIM:602540
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Decreased plasma carnitine, Hepatocellular necrosis, Hepatic steatosis, Periportal fibrosis, Hepa... OMIM:201475
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant
Seborrheic dermatitis, Acne OMIM:167100
S├ęzary Syndrome
Pruritus, Edema, Erythroderma, Abnormal immunoglobulin level ORPHA:3162
Lamellar Ichthyosis
Pruritus, Dehydration, Chronic otitis media, Erythroderma ORPHA:313
Proteasome-Associated Autoinflammatory Syndrome 5
Skin rash OMIM:619175
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Decreased plasma carnitine, Elevated hepatic transaminase, Abnormal circulating acetylcarnitine c... ORPHA:71212
Psoriasis 1, Susceptibility To
Psoriasiform dermatitis, Arthritis OMIM:177900
Corneodermatoosseous Syndrome
Erythroderma OMIM:122440
Autosomal Dominant Epidermolytic Ichthyosis
Erythroderma ORPHA:312
Ichthyosis, Congenital, Autosomal Recessive 6
Erythroderma OMIM:612281
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity OMIM:301013
Pressure-Induced Localized Lipoatrophy
Inflammatory abnormality of the skin ORPHA:90160
Immunodeficiency 58
Esophagitis, Seborrheic dermatitis, Cutaneous abscess, Allergic rhinitis, Bronchiectasis, Decreas... OMIM:618131
Netherton Syndrome
Skin rash, Increased circulating IgE level, Decreased circulating antibody level, Erythroderma, D... ORPHA:634
Glycine Encephalopathy
Lethargy, Hyperglycinemia, Hyperactivity OMIM:605899
Protoporphyria, Erythropoietic, 1
Pruritus, Edema, Eczema OMIM:177000
Elastoderma
Eczema, Erysipelas ORPHA:228240
Familial Mediterranean Fever
Peritonitis, Renal amyloidosis, Elevated circulating amyloid A, Hepatomegaly, Elevated circulatin... OMIM:249100
Histidinemia
Hyperhistidinemia, Hyperactivity ORPHA:2157
Dracunculiasis
Skin rash, Pruritus, Recurrent cutaneous abscess formation, Arthritis ORPHA:231
Gjc2-Related Late-Onset Primary Lymphedema
Edema of the dorsum of hands, Pedal edema, Facial edema, Predominantly lower limb lymphedema, Rec... ORPHA:568051
Amyloidosis, Hereditary, Transthyretin-Related
Amyloidosis OMIM:105210
Hyperlysinemia, Type I
Hyperlysinemia, Hyperactivity OMIM:238700
Verrucous Hemangioma
Inflammatory abnormality of the skin ORPHA:464318
Harlequin Ichthyosis
Erythroderma, Dehydration ORPHA:457
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Seborrheic dermatitis, Acne OMIM:614441
Periodic Fever, Familial, Autosomal Dominant
Hepatomegaly, Hepatic amyloidosis, AA amyloidosis OMIM:142680
Ulerythema Ophryogenesis
Inflammatory abnormality of the skin ORPHA:3406
Omenn Syndrome
Pruritus, Thyroiditis, Erythroderma, Pneumonia, Edema ORPHA:39041
Immunodeficiency 17
Eczema, Recurrent otitis media OMIM:615607
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Decreased circulating antibody level, Colitis,... OMIM:300635
Inflammatory Bowel Disease 25, Autosomal Recessive
Folliculitis, Perianal abscess, Enterocolitis OMIM:612567
Ichthyosis, Congenital, Autosomal Recessive 5
Erythroderma OMIM:604777
Panniculitis-Induced Localized Lipodystrophy
Abnormal immunoglobulin level, Inflammatory abnormality of the skin ORPHA:90159
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Hepatic steatosis, Hepatic necrosis OMIM:231530
Aapoaiv Amyloidosis
Cutaneous amyloidosis, Cardiac amyloidosis, Renal amyloidosis, Elevated circulating creatinine co... ORPHA:439232
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Increased circulating IgE level, Chronic oral candidiasis, Decreased specific anti-polysaccharide... OMIM:606367
Carcinoid Syndrome
Hepatic necrosis, Abnormal B-type natriuretic peptide level, Elevated hepatic transaminase ORPHA:100093
Ameloonychohypohidrotic Syndrome
Seborrheic dermatitis OMIM:104570
Meige Disease
Edema of the dorsum of hands, Lymphedema, Pleural effusion, Recurrent bacterial skin infections, ... ORPHA:90186
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Recurrent aphthous stomatitis, Recurrent sinusitis, Perioral eczema, Colitis OMIM:613960
Juvenile Huntington Disease
Dystonia, Gait ataxia, Ataxia, Bradykinesia, Progressive cerebellar ataxia, Hyperactivity, Broad-... ORPHA:248111
Interstitial Granulomatous Dermatitis With Arthritis
Pruritus, Rheumatoid arthritis, Inflammatory abnormality of the skin ORPHA:79099
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Erythroderma, Conjunctivitis OMIM:242150
Pellagra-Like Syndrome
Skin rash OMIM:260650
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Increased circulating IgE level, Erythroderma, Glomerulonephritis, Hepatitis, Eczema, Arthritis OMIM:304790
Bleeding Disorder, Platelet-Type, 21
Eczema, Psoriasiform dermatitis OMIM:617443
Autosomal Erythropoietic Protoporphyria
Pruritus, Edema, Eczema ORPHA:79278
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Multiple Acyl-Coa Dehydrogenase Deficiency
Decreased plasma carnitine, Elevated hepatic transaminase, Acute pancreatitis, Hepatomegaly, Decr... ORPHA:26791
Immunodeficiency, Common Variable, 14
Defective B cell differentiation, Decreased specific antibody response to vaccination, Recurrent ... OMIM:617765
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity ORPHA:85288
Porphyria Cutanea Tarda, Type I
Eczema OMIM:176090
Ichthyosis, Congenital, Autosomal Recessive 1
Erythroderma OMIM:242300
Leigh Syndrome
Hepatocellular necrosis OMIM:256000
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Transient hyperphenylalaninemia, Ataxia, Dystonia OMIM:612716
Q Fever
Elevated hepatic transaminase, Hepatomegaly, Hepatitis, Splenomegaly, Cholecystitis, Amyloidosis,... ORPHA:781
Copper Deficiency, Familial Benign
Seborrheic dermatitis OMIM:121270
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Pustule, Increased inflammatory response, Increased circulating antibody level, Myositis, Crohn's... ORPHA:69126
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24
Elevated circulating creatine kinase concentration, Attention deficit hyperactivity disorder ORPHA:565899
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity OMIM:604317
Severe Combined Immunodeficiency, X-Linked
Skin rash, Chronic oral candidiasis, Decreased circulating IgE, Pneumonia, Agammaglobulinemia, De... OMIM:300400
Proteasome-Associated Autoinflammatory Syndrome 2
Periorbital edema, Skin rash, Increased circulating antibody level OMIM:618048
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatic steatosis, Elevated circulating glutaric acid concentration, Hepatomegaly, Jaundice, Hepa... OMIM:231680
Pemphigus Erythematosus
Pruritus, Crusting erythematous dermatitis ORPHA:79480
Majeed Syndrome
Skin rash, Joint swelling, Osteomyelitis, Inflammatory abnormality of the skin OMIM:609628
Familial Hemophagocytic Lymphohistiocytosis
Skin rash, Erythroderma, Decreased circulating antibody level, Maculopapular exanthema, Colitis, ... ORPHA:540
Congenital Disorder Of Glycosylation, Type If
Erythroderma OMIM:609180
Systemic Mastocytosis With Associated Hematologic Neoplasm
Amyloidosis, Splenomegaly, Hepatomegaly ORPHA:98849
Cortisone Reductase Deficiency 1
Acne OMIM:604931
Omenn Syndrome
Erythroderma, Pneumonia OMIM:603554
Mannosidosis, Beta A, Lysosomal
Hyperactivity OMIM:248510
Intellectual Developmental Disorder, X-Linked 104
Ataxia, Hyperactivity OMIM:300983
Bullous Pemphigoid
Eczema, Psoriasiform dermatitis ORPHA:703
Cranio-Osteoarthropathy
Eczema, Osteoarthritis, Joint swelling, Arthritis ORPHA:1525
Juvenile Arthritis
Skin rash OMIM:618795
Bathing Suit Ichthyosis
Erythroderma ORPHA:100976
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy, Hyperactivity OMIM:274270
Zinc Deficiency, Transient Neonatal
Eczema OMIM:608118
Immunodeficiency, Common Variable, 12, With Autoimmunity
Bronchiectasis, Decreased circulating antibody level, Recurrent sinusitis, Chronic atrophic gastr... OMIM:616576
Secondary Intestinal Lymphangiectasia
Lymphedema, Decreased circulating antibody level, Pleural effusion, Pedal edema, Chylous ascites,... ORPHA:90363
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Inflammation of the large intestine, Skin rash, Pruritus, Palmoplantar pustulosis, Edema, Psorias... ORPHA:324964
Systemic-Onset Juvenile Idiopathic Arthritis
Skin rash, Joint swelling, Pericarditis, Pleural effusion, Juvenile rheumatoid arthritis, Anterio... ORPHA:85414
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent pneumonia, Increased circulating IgE level, Recurrent otitis media, Lack of T cell func... ORPHA:277
Hepatocellular Carcinoma
Abnormality of the hepatic vasculature, Elevated hepatic transaminase, Hemobilia, Hyperbilirubine... ORPHA:88673
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Increased circulating IgE level, Erythroderma, Increased circulating antibody level, Increased ci... ORPHA:169154
Indolent Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Skin rash, Pruritus, Maculopapular exanthema, Abnormal ... ORPHA:98848
Charcot-Marie-Tooth Disease, Axonal, Type 2T
Unsteady gait OMIM:617017
Erythema Elevatum Diutinum
Skin rash, Increased circulating antibody level ORPHA:90000
Phenylketonuria
Hyperphenylalaninemia, Maternal hyperphenylalaninemia, Attention deficit hyperactivity disorder, ... OMIM:261600
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, Skin rash, Partial absence of specific antibody response to ... OMIM:618108
Melkersson-Rosenthal Syndrome
Periorbital edema, Edema, Cheilitis, Inflammatory abnormality of the skin ORPHA:2483
Fraxe Intellectual Disability
Hyperactivity ORPHA:100973
Autosomal Agammaglobulinemia
Skin rash, Bronchiectasis, Chronic otitis media, Conjunctivitis, Hepatitis, Dehydration, Agammagl... ORPHA:33110
Yao Syndrome
Skin rash, Inflammatory abnormality of the skin, Pericarditis, Xerostomia, Keratoconjunctivitis s... OMIM:617321
Idiopathic Localized Lipodystrophy
Pruritus, Inflammatory abnormality of the skin ORPHA:90158
Pachydermoperiostosis
Seborrheic dermatitis, Joint swelling, Eczematoid dermatitis, Edema, Osteomyelitis, Acne, Arthritis ORPHA:2796
Mental Retardation, Autosomal Recessive 39
Hyperactivity OMIM:615541
Dermatitis Herpetiformis
Pruritus, Edema, Eczema ORPHA:1656
Mental Retardation, Autosomal Dominant 43
Hyperactivity OMIM:616977
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity OMIM:300434
Chondrodysplasia Punctata 2, X-Linked Dominant
Polyhydramnios, Erythroderma, Edema OMIM:302960
Autoimmune Lymphoproliferative Syndrome, Type V
Bronchiectasis, Decreased circulating antibody level, Chronic atrophic gastritis, Decreased circu... OMIM:616100
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Hyperactivity OMIM:609425
Xq25 Microduplication Syndrome
Hyperactivity ORPHA:521258
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Erythroderma, Keratitis, Oligohydramnios OMIM:308205
Xq25 Duplication Syndrome
Hyperactivity OMIM:300979
Letterer-Siwe Disease
Seborrheic dermatitis, Stomatitis OMIM:246400
Coffin-Siris Syndrome 8
Hyperactivity OMIM:618362
Biotinidase Deficiency
Skin rash, Seborrheic dermatitis, Recurrent skin infections, Conjunctivitis OMIM:253260
Lennox-Gastaut Syndrome
Falls, Hyperactivity ORPHA:2382
Hypomagnesemia, Seizures, And Mental Retardation 2
Hypomagnesemia, Hypokalemia, Hyperactivity OMIM:618314
Optic Atrophy 11
Dysmetria, Ataxia, Hyperactivity OMIM:617302
Idiopathic Hypereosinophilic Syndrome
Pruritus, Inflammatory abnormality of the skin, Joint swelling, Erythroderma, Pleural effusion, C... ORPHA:3260
Milroy Disease
Lymphedema, Erysipelas, Pedal edema, Predominantly lower limb lymphedema ORPHA:79452
Sapho Syndrome
Inflammation of the large intestine, Skin rash, Pustule, Palmoplantar pustulosis, Synovitis, Psor... ORPHA:793
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Eczematoid dermatitis, Seborrheic dermatitis, Arthritis OMIM:259100
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Erythroderma, Decreased circulating antibody level OMIM:617425
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Cutaneous amyloidosis OMIM:301220
Succinic Semialdehyde Dehydrogenase Deficiency
Hyperactivity, Ataxia, Elevated circulating gamma-aminobutyric acid concentration OMIM:271980
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Skin rash, Chronic oral candidiasis, Hashimoto thyroiditis, Juvenile rheumatoid arthritis, Decrea... ORPHA:275
Immunodeficiency 81
Skin rash, Impaired neutrophil chemotaxis, Recurrent cutaneous abscess formation, Reduced antigen... OMIM:619374
Trichothiodystrophy 1, Photosensitive
Erythroderma, Keratoconjunctivitis sicca, Decreased circulating IgG level OMIM:601675
Iga Pemphigus
Pruritus, Pustule, Cutaneous abscess, Neutrophilic infiltration of the skin, Ulcerative colitis, ... ORPHA:555905
Transketolase Deficiency
Conjunctivitis, Seborrheic dermatitis, Uveitis ORPHA:488618
Intellectual Developmental Disorder, X-Linked 30
Hyperactivity OMIM:300558
Guanidinoacetate Methyltransferase Deficiency
Dystonia, Athetosis, Ataxia, Hyperactivity ORPHA:382
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Ataxia, Hyperactivity ORPHA:411515
Subcorneal Pustular Dermatosis
Pruritus, Rheumatoid arthritis, Pustule, Increased circulating antibody level ORPHA:48377
Majeed Syndrome
Pustule, Synovitis, Abnormal inflammatory response, Edema, Osteomyelitis, Acne, Inflammatory abno... ORPHA:77297
Gand Syndrome
Hyperactivity OMIM:615074
X-Linked Lymphoproliferative Disease
Increased circulating ferritin concentration, Elevated hepatic transaminase, Hypertriglyceridemia... ORPHA:2442
Acute Liver Failure
Elevated hepatic transaminase, Hepatocellular necrosis, Jaundice, Hepatitis, Hepatic necrosis, Hy... ORPHA:90062
Rat-Bite Fever
Skin rash, Parotitis, Pustule, Endocarditis, Pericarditis, Lymphadenitis, Maculopapular exanthema... ORPHA:31205
Blau Syndrome
Pericarditis, Iritis, Joint swelling, Uveitis, Synovitis, Cystoid macular edema, Nongranulomatous... OMIM:186580
Severe Neurodegenerative Syndrome With Lipodystrophy
Gait ataxia, Ataxia, Hypertriglyceridemia, Limb dystonia, Hyperactivity ORPHA:363400
Psoriasis 14, Pustular
Cholangitis, Psoriasiform dermatitis, Pustule, Oligoarthritis OMIM:614204
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Hyperactivity OMIM:618504
Vexas Syndrome
Chondritis of pinna, Arteritis, Neutrophilic infiltration of the skin, Nasal chondritis, Arthriti... OMIM:301054
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Unsteady gait, Broad-based gait, Hyperactivity OMIM:617865
Landau-Kleffner Syndrome
Steppage gait, Gait ataxia, Attention deficit hyperactivity disorder, Hyperactivity ORPHA:98818
Cln5 Disease
Dysdiadochokinesis, Inability to walk, Truncal ataxia, Ataxia, Unsteady gait, Dysmetria, Hyperact... ORPHA:228360
Clark-Baraitser Syndrome
Hyperactivity OMIM:617752
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Hepatocellular necrosis OMIM:618278
X-Linked Creatine Transporter Deficiency
Dystonia, Abnormal circulating creatine concentration, Ataxia, Hyperactivity, Athetosis ORPHA:52503
Mental Retardation, Autosomal Recessive 13
Hyperactivity OMIM:613192
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Broad-based gait, Hyperactivity ORPHA:457260
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Seborrheic dermatitis OMIM:210210
Centrifugal Lipodystrophy
Lymphadenitis, Inflammatory abnormality of the skin ORPHA:90156
Mental Retardation, Autosomal Recessive 38
Unsteady gait, Hyperactivity OMIM:615516
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Hyperactivity OMIM:618718
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Shuffling gait, Hyperactivity ORPHA:3077
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Dystonia, Gait ataxia, Hyperactivity ORPHA:500180
Necrobiosis Lipoidica
Abnormality of neutrophil physiology, Inflammatory abnormality of the skin ORPHA:542592
Hyperzincemia With Functional Zinc Depletion
Skin rash OMIM:601979
Citrullinemia Type Ii
Hypercholesterolemia, Hypoproteinemia, Lethargy, Acute hyperammonemia, Hypertriglyceridemia, Hypo... ORPHA:247585
Pemphigus Foliaceus
Crusting erythematous dermatitis ORPHA:79481
Chromosome 15Q25 Deletion Syndrome
Attention deficit hyperactivity disorder, Hyperactivity OMIM:614294
Trichothiodystrophy
Panhypogammaglobulinemia, Conjunctivitis, Congenital exfoliative erythroderma, Keratoconjunctivit... ORPHA:33364
Rasmussen Subacute Encephalitis
Inability to walk, Hemidystonia, Attention deficit hyperactivity disorder, Hyperactivity ORPHA:1929
Multiple Endocrine Neoplasia, Type Iia
Cutaneous lichen amyloidosis OMIM:171400
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Increased circulating IgE level, Interstitial pneumonitis, Eczematoid dermatitis, Thyroiditis, Pn... ORPHA:37042
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hyperactivity ORPHA:397973
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Hyperactivity OMIM:615824
Monosomy 22
Seborrheic dermatitis, Joint swelling ORPHA:96123
Thrombocytopenia-Absent Radius Syndrome
Decreased circulating antibody level, Seborrheic dermatitis, Edema of the dorsum of feet, Edema o... OMIM:274000
Psoriasis-Related Juvenile Idiopathic Arthritis
Skin rash, Pruritus, Iridocyclitis, Iritis, Uveitis, Sacroiliac arthritis, Malar rash, Oligoarthr... ORPHA:85436
Graves Disease, Susceptibility To, 1
Hyperactivity OMIM:275000
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Broad-based gait, Hyperactivity OMIM:300958
Graft Versus Host Disease
Acute hepatitis, Gastrointestinal inflammation, Inflammatory abnormality of the skin, Maculopapul... ORPHA:39812
Fragile X Syndrome
Hyperactivity OMIM:300624
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Polyhydramnios, Seborrheic dermatitis, Hydrops fetalis OMIM:300868
Intellectual Developmental Disorder, X-Linked 21
Hyperactivity OMIM:300143
Neonatal Inflammatory Skin And Bowel Disease
Pustule, Chapped lip, Recurrent bacterial skin infections, Psoriasiform dermatitis, Blepharitis ORPHA:294023
Myoclonic-Astatic Epilepsy
Unsteady gait, Attention deficit hyperactivity disorder, Ataxia, Hyperactivity ORPHA:1942
Hemihyperplasia-Multiple Lipomatosis Syndrome
Seborrheic dermatitis ORPHA:276280
Spastic Paraplegia 29, Autosomal Dominant
Neonatal hyperbilirubinemia, Hyperactivity OMIM:609727
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Neonatal hyperbilirubinemia, Attention deficit hyperactivity disorder, Hyperactivity ORPHA:73272
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Eczema, Seborrheic dermatitis ORPHA:369950
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity ORPHA:101039
Uremic Pruritus
Pruritus, Recurrent skin infections, Inflammatory abnormality of the skin ORPHA:94059
Multiple Endocrine Neoplasia Type 2
Hypercalcemia, Neoplasm of the liver, Cutaneous lichen amyloidosis ORPHA:653
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity ORPHA:85327
Infantile Neuroaxonal Dystrophy
Dystonia, Gait disturbance, Ataxia, Unsteady gait, Hyperactivity ORPHA:35069
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Pruritus, Seborrheic dermatitis, Superficial dermal perivascular inflammatory infiltrate, Decreas... ORPHA:83617
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hyperactivity OMIM:619239
Immunodeficiency 49
Inflammatory abnormality of the skin OMIM:617237
X-Linked Cerebral Adrenoleukodystrophy
Inability to walk, Difficulty walking, Gait disturbance, Ataxia, Abnormal circulating fatty-acid ... ORPHA:139396
22Q11.2 Deletion Syndrome
Polyhydramnios, Seborrheic dermatitis, Chronic otitis media, Impaired T cell function, Acne, Arth... ORPHA:567
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia, Ataxia, Hyperactivity ORPHA:760
Neurodegeneration With Brain Iron Accumulation 2B
Dysdiadochokinesis, Dystonia, Gait ataxia, Bradykinesia, Dysmetria, Hyperactivity OMIM:610217
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Hypercholesterolemia, Hyperglutaminemia, Elevated p... ORPHA:470
Hyperthyroidism, Nonautoimmune
Hyperactivity OMIM:609152
X-Linked Adrenoleukodystrophy
Gait disturbance, Attention deficit hyperactivity disorder, Hyperactivity ORPHA:43
Argininemia
Hyperargininemia, Hyperammonemia, Spastic gait, Hyperactivity OMIM:207800
Pitt-Hopkins-Like Syndrome 1
Ataxia, Hyperactivity OMIM:610042
Igg4-Related Kidney Disease
Prostatitis, Increased circulating IgG1 level, Arteritis, Pericarditis, Increased circulating IgE... ORPHA:449395
Mucopolysaccharidosis, Type Iiia
Hyperactivity OMIM:252900
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Broad-based gait, Gait imbalance, Ataxia, Hyperactivity ORPHA:98794
Digeorge Syndrome
Impaired T cell function, Seborrheic dermatitis, Acne OMIM:188400
Malakoplakia
Skin rash, Pruritus, Urinary bladder inflammation, Orchitis, Inflammatory abnormality of the skin ORPHA:556
47,Xyy Syndrome
Attention deficit hyperactivity disorder, Hyperactivity ORPHA:8
Hyperlysinemia
Hypoornithinemia, Hyperlysinemia, Dysmetria, Hyperactivity, Hyperammonemia, Tip-toe gait ORPHA:2203
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Pericardial effusion, Pneumonia, Inflammatory abnormality of the skin ORPHA:26793
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Bronchiectasis, Thyroiditis, Hepatitis, Encephalitis, Chronic mucocutaneous candidiasis, Eczema, ... ORPHA:391487
Neurodegeneration With Brain Iron Accumulation 1
Dystonia, Akinesia, Gait disturbance, Blepharospasm, Ataxia, Bradykinesia, Hyperactivity OMIM:234200
Familial Gestational Hyperthyroidism
Hyperactivity ORPHA:99819
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity ORPHA:424
Cerebellar Ataxia, Nonprogressive, With Mental Retardation
Dysmetria, Unsteady gait, Ataxia, Hyperactivity OMIM:614756
Choreoacanthocytosis
Blepharospasm, Bradykinesia, Lingual dystonia, Laryngeal dystonia, Progressive inability to walk,... ORPHA:2388
Triglyceride Deposit Cardiomyovasculopathy
Pancreatitis, Inflammatory abnormality of the skin ORPHA:565612
Spinocerebellar Ataxia Type 43
Limb ataxia, Unsteady gait, Gait ataxia, Progressive cerebellar ataxia ORPHA:497764
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Gastrointestinal inflammation, Skin rash, Pneumonia, Conjunctivitis, Xerostomia, Keratitis, Kerat... ORPHA:95455
Spinocerebellar Ataxia 43
Limb ataxia, Gait ataxia, Ataxia OMIM:617018
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Glomerulonephritis ORPHA:69063

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
Mmetm300418(L1L2_Bact_P) Targeting vectors
Mmeem1(IMPC)Mbp Inter-exon deletion Mice, Tissue

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