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
increased circulating phosphate level Mmeem1(IMPC)Mbp HOM   Early adult 6.43×10-05

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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
Acne Inversa, Familial, 3
Chronic furunculosis, Perifolliculitis, Acne inversa, Recurrent cutaneous abscess formation OMIM:613737
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:618883
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
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
Immunodeficiency 51
Pneumonia, Folliculitis, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Cutaneous absc... OMIM:613953
Benign Cephalic Histiocytosis
Inflammatory abnormality of the skin, Skin rash ORPHA:157997
Lymphatic Malformation 3
Recurrent skin infections, Lymphedema OMIM:613480
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:2239
Pseudohypoparathyroidism Type 2
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia ORPHA:94090
Kerion Celsi
Inflammatory abnormality of the skin, Recurrent skin infections, Recurrent cutaneous abscess form... ORPHA:499
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia OMIM:603233
Paget Disease, Extramammary
Eczematoid dermatitis OMIM:167300
Familial Reactive Perforating Collagenosis
Inflammatory abnormality of the skin, Maculopapular exanthema, Crusting erythematous dermatitis, ... ORPHA:79147
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:146200
Hemochromatosis, Neonatal
Hepatic fibrosis, Hepatic failure, Increased circulating iron concentration, Hepatocellular necro... OMIM:231100
Malignant Hyperthermia, Susceptibility To, 2
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154275
Bullous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis, Pruritus, Erythroderma ORPHA:280785
Chronic Actinic Dermatitis
Allergic rhinitis, Eczematoid dermatitis, Erythroderma, Late onset atopic dermatitis, Pruritus ORPHA:330064
Intellectual Developmental Disorder, Fra12A Type
Erythroderma OMIM:136630
Amyloidosis, Hereditary Systemic 2
Renal amyloidosis, Cholestasis, Splenomegaly, Generalized amyloid deposition, Hepatomegaly OMIM:105200
Malignant Hyperthermia, Susceptibility To, 3
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154276
Erythroderma, Lethal Congenital
Congenital exfoliative erythroderma OMIM:227090
Myeloma, Multiple
Amyloidosis OMIM:254500
Amyloidosis, Primary Localized Cutaneous, 2
Cutaneous amyloidosis OMIM:613955
Hypocalcemia, Autosomal Dominant 1
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level OMIM:601198
Amyloidosis, Cutaneous Bullous
Amyloidosis OMIM:204900
Malignant Hyperthermia, Susceptibility To, 1
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:145600
Pediatric Hepatocellular Carcinoma
Hepatic fibrosis, Hepatic necrosis, Portal vein thrombosis, Hepatomegaly, Elevated circulating al... ORPHA:33402
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection
Chronic furunculosis, Cutaneous abscess OMIM:619986
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Chronic furunculosis, Perifolliculitis, Acne inversa, Recurrent cutaneous abscess formation OMIM:613736
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Perifolliculitis OMIM:260910
Spondyloepiphyseal Dysplasia, Nishimura Type
Hyperphosphatemia, Hypocalcemia OMIM:618618
Pityriasis Rubra Pilaris
Pustule, Pruritus, Erythroderma, Eczematoid dermatitis ORPHA:2897
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemia, Hypophosphatemic rickets OMIM:241520
Variant Abeta2M Amyloidosis
Renal amyloidosis, Amyloidosis of peripheral nerves, Hepatic amyloidosis, Cutaneous amyloidosis, ... ORPHA:314652
Hypocalcemia, Autosomal Dominant 2
Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Blue Diaper Syndrome
Hypercalcemia, Hyperphosphatemia ORPHA:94086
Ichthyosis, Congenital, Autosomal Recessive 7
Erythroderma OMIM:615022
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
Verrucous Hemangioma
Inflammatory abnormality of the skin ORPHA:464318
Erythrokeratodermia Variabilis Et Progressiva 1
Erythroderma OMIM:133200
Epidermolytic Hyperkeratosis 1
Erythroderma OMIM:113800
Candidiasis, Familial, 8
Cheilitis, Seborrheic dermatitis, Blepharitis, Chronic oral candidiasis OMIM:615527
Ige Responsiveness, Atopic
Allergic rhinitis, Increased circulating IgE level, Eczematoid dermatitis OMIM:147050
Ichthyosis Prematurity Syndrome
Allergic rhinitis, Pruritus, Erythroderma, Polyhydramnios OMIM:608649
Impaired Intellectual Development And Psoriasis
Psoriasiform dermatitis OMIM:309480
X-Linked Intellectual Disability-Seizures-Psoriasis Syndrome
Psoriasiform dermatitis ORPHA:3052
Dietary Iron Overload Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Hepatic per... ORPHA:139507
Amyloidosis, Primary Localized Cutaneous, 1
Cutaneous amyloidosis OMIM:105250
Seborrhea-Like Dermatitis With Psoriasiform Elements
Seborrheic dermatitis OMIM:610227
Aa Amyloidosis
Cholestasis, Hepatomegaly, Renal amyloidosis, Amyloidosis ORPHA:85445
Netherton Syndrome
Allergic rhinitis, Decreased circulating IgG level, Eczematoid dermatitis, Angioedema, Increased ... OMIM:256500
Immunodeficiency 15A
Acne inversa, Chronic mucocutaneous candidiasis, Cutaneous abscess, Recurrent otitis media, Recur... OMIM:618204
Cerebral Amyloid Angiopathy, Cst3-Related
Generalized amyloid deposition OMIM:105150
Immunodeficiency 66
Pustule, Defective T cell proliferation, Recurrent skin infections OMIM:618847
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia ORPHA:36913
Ichthyosis, Congenital, Autosomal Recessive 10
Erythroderma OMIM:615024
Calciphylaxis
Hyperphosphatemia ORPHA:280062
Epidermolytic Hyperkeratosis 2A, Autosomal Dominant
Erythroderma OMIM:620150
Immunodeficiency 25
Recurrent pneumonia, Increased circulating IgE level, Complete or near-complete absence of specif... OMIM:610163
Inflammatory Skin And Bowel Disease, Neonatal, 1
Increased circulating IgE level, Blepharitis, Erythroderma, Pustule OMIM:614328
Peeling Skin Syndrome 1
Increased circulating IgE level, Pruritus, Erythroderma OMIM:270300
Hypophosphatemic Bone Disease
Hypophosphatemia OMIM:146350
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Seborrheic dermatitis, Eczematoid dermatitis OMIM:619693
Epidermodysplasia Verruciformis
Pustule, Seborrheic dermatitis, Recurrent skin infections ORPHA:302
Quinquaud Folliculitis Decalvans
Pustule, Recurrent skin infections ORPHA:346
Immunodeficiency 50
Decreased circulating antibody level, Eczematoid dermatitis OMIM:300988
Drug Reaction With Eosinophilia And Systemic Symptoms
Hepatitis, Angioedema, Interstitial pneumonitis, Skin rash, Infectious encephalitis, Pustule, Ery... ORPHA:139402
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Decreased circulating IgG level, Atopic dermatitis, Cutaneous abscess, Increased circulating IgE ... OMIM:618944
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia OMIM:612462
Inflammatory Bowel Disease 28, Autosomal Recessive
Folliculitis, Pyoderma, Crohn's disease, Perianal abscess, Enterocolitis, Colitis OMIM:613148
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Hepatitis, Otitis media, Increas... ORPHA:169160
Pseudohypoparathyroidism Type 1B
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia ORPHA:94089
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia OMIM:616963
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Hypocalcemia OMIM:619073
Pemphigus Foliaceus
Psoriasiform dermatitis, Crusting erythematous dermatitis, Pustule, Erythroderma, Pruritus ORPHA:79481
Congenital Ichthyosiform Erythroderma
Pruritus, Keratitis, Erythroderma ORPHA:79394
Keratolytic Winter Erythema
Pustule ORPHA:50943
Congenital Lethal Erythroderma
Congenital exfoliative erythroderma ORPHA:1954
Genetic Recurrent Myoglobinuria
Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Highly elevated creatine kinase ORPHA:99845
Absence Of Fingerprints-Congenital Milia Syndrome
Skin rash, Thin skin ORPHA:1658
Complement Component 5 Deficiency
Generalized seborrheic dermatitis OMIM:609536
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level, Late onset atopic dermatitis OMIM:221700
Palmoplantar Carcinoma, Multiple Self-Healing
Amyloidosis, Cutaneous macular amyloidosis OMIM:615225
Mycosis Fungoides
Pruritus, Psoriasiform dermatitis, Eczematoid dermatitis OMIM:254400
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgG level, Eczematoid dermatitis, Decreased circulating IgA level, Oligoart... OMIM:619510
Hydroa Vacciniforme
Papulovesicular eruption, Keratitis, Eczematoid dermatitis, Malar rash, Superficial dermal periva... ORPHA:330058
Bullous Impetigo
Pustule, Septic arthritis, Recurrent bacterial skin infections ORPHA:36237
Alopecia-Intellectual Disability Syndrome 4
Erythroderma OMIM:618840
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:241410
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal fibrosis, E... OMIM:251880
Chilblain Lupus
Discoid lupus rash, Inflammatory abnormality of the skin, Malar rash, Skin rash, Increased circul... ORPHA:90280
Psoriasis 15, Pustular, Susceptibility To
Psoriasiform dermatitis OMIM:616106
Acys Amyloidosis
Amyloidosis, Cerebral amyloid angiopathy ORPHA:100008
Dermatitis, Atopic
Allergic rhinitis, Atopic dermatitis, Eczematoid dermatitis, Pruritus, Conjunctivitis, Recurrent ... OMIM:603165
S├ęzary Syndrome
Abnormal immunoglobulin level, Pruritus, Erythroderma, Edema ORPHA:3162
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Hypercalcemia, Hyperphosphatemia, Calcinosis OMIM:211900
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Hyperphosphatemia OMIM:103580
Netherton Syndrome
Eczematoid dermatitis, Increased circulating IgE level, Skin rash, Erythroderma, Decreased circul... ORPHA:634
Lamellar Ichthyosis
Pruritus, Erythroderma, Chronic otitis media, Dehydration ORPHA:313
Autosomal Dominant Epidermolytic Ichthyosis
Erythroderma ORPHA:312
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hypercalcemia, Hyperphosphatemia OMIM:617994
Familial Mediterranean Fever
Renal amyloidosis, Splenomegaly, Amyloidosis, Peritonitis, Elevated circulating C-reactive protei... OMIM:249100
Immunodeficiency 58
Allergic rhinitis, Recurrent pneumonia, Bronchiectasis, Eczematoid dermatitis, Cutaneous abscess,... OMIM:618131
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemia, Hypophosphatemic rickets OMIM:193100
Aapoaiv Amyloidosis
Renal amyloidosis, Elevated circulating creatinine concentration, Hyperlipidemia, Cutaneous amylo... ORPHA:439232
Wiskott-Aldrich Syndrome 2
Reduced natural killer cell activity, Defective T cell proliferation, Eczematoid dermatitis OMIM:614493
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Atopic dermatitis, Bronchiectasis, Increased circulating IgE level, Disseminated mollu... OMIM:617638
Idiopathic Trachyonychia
Amyloidosis ORPHA:79153
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Periportal fibrosis, Decreased circulating carnitine concentration, Hepatocellular necrosis, Hepa... OMIM:201475
Periodic Fever, Familial, Autosomal Dominant
Hepatomegaly, AA amyloidosis, Hepatic amyloidosis OMIM:142680
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat... ORPHA:71212
Pressure-Induced Localized Lipoatrophy
Inflammatory abnormality of the skin ORPHA:90160
Carcinoid Syndrome
Abnormal circulating B-type natriuretic peptide concentration, Hepatic necrosis, Elevated circula... ORPHA:100093
Elastoderma
Eczematoid dermatitis, Erysipelas ORPHA:228240
Omenn Syndrome
Pneumonia, Thyroiditis, Erythroderma, Pruritus, Edema ORPHA:39041
Harlequin Ichthyosis
Erythroderma, Dehydration ORPHA:457
Ichthyosis With Erythrokeratoderma
Pruritus, Erythroderma OMIM:620507
Generalized Pustular Psoriasis
Palmoplantar pustulosis, Pustule, Erythroderma, Arthritis, Cheilitis, Pedal edema, Uveitis ORPHA:247353
Kenny-Caffey Syndrome, Type 2
Hyperphosphatemia, Hypocalcemia, Transient hypophosphatemia OMIM:127000
Protoporphyria, Erythropoietic, 1
Pruritus, Eczematoid dermatitis, Edema OMIM:177000
Ichthyosis With Confetti
Pruritus, Erythroderma OMIM:609165
Ichthyosis, Hystrix-Like, With Deafness
Punctate keratitis, Erythroderma OMIM:602540
Phoar2-Enteropathy Syndrome
Seborrheic dermatitis, Acne OMIM:614441
Neuroleptic Malignant Syndrome
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hyperuricemia, Elevated circulating creatine kin... ORPHA:94093
Gjc2-Related Late-Onset Primary Lymphedema
Facial edema, Predominantly lower limb lymphedema, Genital edema, Edema of the dorsum of hands, R... ORPHA:568051
Copper Deficiency, Familial Benign
Seborrheic dermatitis OMIM:121270
Amyloidosis, Finnish Type
Generalized amyloid deposition, Renal glomerular amyloid deposition, Cardiac amyloidosis OMIM:105120
Sanjad-Sakati Syndrome
Hyperphosphatemia, Hypocalcemia ORPHA:2323
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased specific anti-polysaccharide antibody level, Eczematoid dermatitis, Increased circulati... OMIM:606367
Paget Disease Of Bone 5, Juvenile-Onset
Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia OMIM:239000
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Increased circulating IgE level, Psoriasiform dermatitis, Eosinophilic infiltration of the esopha... OMIM:615508
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Hypophosphatemia OMIM:612287
Mal De Meleda
Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate ORPHA:87503
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Hepatic necrosis, Hepatic steatosis OMIM:231530
Q Fever
Elevated circulating hepatic transaminase concentration, Hepatitis, Hepatosplenomegaly, Abnormali... ORPHA:781
Malignant Hyperthermia Of Anesthesia
Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise ORPHA:423
Panniculitis-Induced Localized Lipodystrophy
Abnormal immunoglobulin level, Inflammatory abnormality of the skin ORPHA:90159
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eczematoid dermatitis, Hepatitis, Increased circulating IgE level, Erythroderma, Glomerulonephrit... OMIM:304790
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Atopic dermatitis, Recurrent pneumonia, Eczematoid dermatitis, Cutaneous abscess, Chronic mucocut... OMIM:618282
Ichthyosis, Congenital, Autosomal Recessive 5
Erythroderma OMIM:604777
Autosomal Dominant Hypocalcemia
Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:428
Dent Disease 2
Hypophosphatemia, Elevated circulating creatine kinase concentration OMIM:300555
Amyloidosis, Hereditary Systemic 1
Amyloidosis OMIM:105210
Ichthyosis, Congenital, Autosomal Recessive 9
Erythroderma OMIM:615023
Interstitial Granulomatous Dermatitis With Arthritis
Inflammatory abnormality of the skin, Pruritus, Rheumatoid arthritis ORPHA:79099
Diffuse Cutaneous Mastocytosis
Pruritus, Erythroderma, Peau d'orange ORPHA:79456
Fanconi Renotubular Syndrome 5
Hypophosphatemia, Hypophosphatemic rickets OMIM:618913
Meige Disease
Facial edema, Predominantly lower limb lymphedema, Lymphedema, Peripheral edema, Pleural effusion... ORPHA:90186
Autosomal Erythropoietic Protoporphyria
Pruritus, Eczematoid dermatitis, Edema ORPHA:79278
Inflammatory Bowel Disease 25, Autosomal Recessive
Perianal abscess, Folliculitis, Enterocolitis, Pancolitis OMIM:612567
Ichthyosis, Congenital, Autosomal Recessive 1
Erythroderma OMIM:242300
Pseudohypoparathyroidism Type 1C
Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Calcinosis, Hypocalcemic seizures ORPHA:79444
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hypophosphatemia OMIM:612286
Spinocerebellar Ataxia 34
Erythroderma OMIM:133190
Familial Hemophagocytic Lymphohistiocytosis
Decreased circulating antibody level, Skin rash, Infectious encephalitis, Erythroderma, Reduced n... ORPHA:540
Papa Syndrome
Crohn's disease, Increased inflammatory response, Myositis, Increased circulating antibody level,... ORPHA:69126
Leigh Syndrome, Nuclear
Hepatocellular necrosis OMIM:256000
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant
Seborrheic dermatitis, Acne OMIM:167100
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Elevated circulating hepatic transaminase conce... ORPHA:26791
Systemic Mastocytosis With Associated Hematologic Neoplasm
Hepatomegaly, Splenomegaly, Amyloidosis ORPHA:98849
Familial Isolated Hyperparathyroidism
Hypophosphatemia, Hypercalcemia ORPHA:99879
Acrodysostosis 1 With Or Without Hormone Resistance
Hyperphosphatemia OMIM:101800
Bathing Suit Ichthyosis
Erythroderma ORPHA:100976
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia OMIM:612089
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Increased circulating IgE level, Increased circulating antibody level, Increased circulating IgA ... ORPHA:169154
Autosomal Dominant Hypophosphatemic Rickets
Hypophosphatemia, Hypocalcemia ORPHA:89937
Pruritic Urticarial Papules And Plaques Of Pregnancy
Pruritus on foot, Eczematoid dermatitis, Pruritis on breast, Pruritis on hand, Pruritis on abdome... ORPHA:64745
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, Partial absence of specific antibody response to tetanus vac... OMIM:618108
Pseudohypoparathyroidism Type 1A
Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Calcinosis, Hypocalcemic seizures ORPHA:79443
Majeed Syndrome
Osteomyelitis, Joint swelling, Inflammatory abnormality of the skin, Skin rash OMIM:609628
Ichthyosis, Congenital, Autosomal Recessive 6
Erythroderma OMIM:612281
Systemic-Onset Juvenile Idiopathic Arthritis
Anterior uveitis, Pleural effusion, Skin rash, Joint swelling, Arthritis, Juvenile rheumatoid art... ORPHA:85414
Zinc Deficiency, Transient Neonatal
Eczematoid dermatitis OMIM:608118
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Inflammation of the large intestine, Lymphadenitis, Eczematoid dermatitis, Erythroderma, Thin skin OMIM:615895
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia ORPHA:93325
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Hepatic failure, Micronodular cirrhosis, Hepatocellular necrosis, Cholestasis, Acute hepatic fail... OMIM:256810
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated circulating glutaric acid concentration, Hepatic periportal necrosis, Hepatic steatosis,... OMIM:231680
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia OMIM:308990
Refractory Celiac Disease
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia ORPHA:398063
Idiopathic Localized Lipodystrophy
Pruritus, Inflammatory abnormality of the skin ORPHA:90158
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Conjunctivitis, Erythroderma OMIM:242150
Linear Verrucous Nevus Syndrome
Hypophosphatemia ORPHA:2611
Yao Syndrome
Uveitis, Inflammatory abnormality of the skin, Xerostomia, Skin rash, Keratoconjunctivitis sicca,... OMIM:617321
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hypophosphatemia, Increased circulating beta-C-terminal telopeptide concentration, Hypophosphatem... ORPHA:157215
Pachydermoperiostosis
Eczematoid dermatitis, Osteomyelitis, Joint swelling, Seborrheic dermatitis, Arthritis, Acne, Edema ORPHA:2796
Hypomagnesemia 3, Renal
Increased circulating beta-C-terminal telopeptide concentration, Hyperphosphatemia, Hypomagnesemi... OMIM:248250
Congenital Disorder Of Glycosylation, Type If
Erythroderma OMIM:609180
Uremic Pruritus
Renal hypophosphatemia, Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:94059
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent pneumonia, Inflammatory abnormality of the skin, Lack of T cell function, Recurrent oti... ORPHA:277
Biotinidase Deficiency
Conjunctivitis, Recurrent skin infections, Skin rash, Seborrheic dermatitis OMIM:253260
Melkersson-Rosenthal Syndrome
Inflammatory abnormality of the skin, Periorbital edema, Cheilitis, Edema ORPHA:2483
Colchicine Poisoning
Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia, Abnormal blood ion con... ORPHA:31824
Fanconi Renotubular Syndrome 1
Hypokalemia, Hypophosphatemia OMIM:134600
Letterer-Siwe Disease
Seborrheic dermatitis, Stomatitis OMIM:246400
Hemorrhagic Fever-Renal Syndrome
Elevated circulating creatinine concentration, Hyperkalemia, Hyperphosphatemia ORPHA:340
Chondrodysplasia Punctata 2, X-Linked Dominant
Polyhydramnios, Erythroderma, Edema OMIM:302960
Exercise-Induced Malignant Hyperthermia
Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Elevated circulating creatine kinase concentration ORPHA:466650
Familial Mediterranean Fever
Acute hepatic failure, Splenomegaly, Amyloidosis, Peritonitis, Pancreatitis ORPHA:342
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Cutaneous amyloidosis OMIM:301220
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Abnormal circulating calcium concentration, Hypophosphatemia, Hypophosphatemic rickets OMIM:241530
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypophosphatemia, Hypocalcemia OMIM:600081
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Eczematoid dermatitis, Angioedema, Pleural effusion, Joint ... ORPHA:3260
Cystinosis
Hypokalemia, Hypophosphatemia ORPHA:213
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Seborrheic dermatitis, Eczematoid dermatitis, Arthritis OMIM:259100
Omenn Syndrome
Pneumonia, Erythroderma OMIM:603554
Sapho Syndrome
Inflammation of the large intestine, Osteomyelitis, Psoriasiform dermatitis, Skin rash, Palmoplan... ORPHA:793
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Hypocalcemic seizures, Hypophosphatemia, Hypocalcemia OMIM:264700
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypophosphatemia, Hypercalcemia OMIM:600740
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Decreased circulating antibody level, Erythroderma OMIM:617425
X-Linked Dominant Chondrodysplasia Punctata
Erythroderma ORPHA:35173
Combined Oxidative Phosphorylation Deficiency 55
Hypomagnesemia, Hypophosphatemic rickets, Elevated circulating creatine kinase concentration, Hyp... OMIM:619743
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Increased circulating free fatty acid level, Hypophosphatemia OMIM:605911
Trichothiodystrophy 1, Photosensitive
Decreased circulating IgG level, Keratoconjunctivitis sicca, Erythroderma OMIM:601675
Hypophosphatemic Rickets, X-Linked Dominant
Abnormal circulating calcium concentration, Hypophosphatemia, Hypophosphatemic rickets OMIM:307800
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Hypophosphatemia OMIM:616026
Alkaptonuria
Black pigment gallstones, Amyloidosis ORPHA:56
Majeed Syndrome
Inflammatory abnormality of the skin, Osteomyelitis, Synovitis, Pustule, Abnormal inflammatory re... ORPHA:77297
Hypocalcemic Vitamin D-Resistant Rickets
Hypophosphatemia, Hypocalcemia ORPHA:93160
Transketolase Deficiency
Conjunctivitis, Seborrheic dermatitis, Uveitis ORPHA:488618
Fanconi Renotubular Syndrome 2
Hypophosphatemia OMIM:613388
Dyskeratosis Congenita, Autosomal Dominant 1
Cirrhosis, Hepatic necrosis OMIM:127550
Fanconi-Bickel Syndrome
Hypouricemia, Hyperbilirubinemia, Increased serum bile acid concentration, Hypokalemia, Hypophosp... OMIM:227810
Vitamin D-Dependent Rickets, Type 2A
Hypocalcemic seizures, Hypophosphatemia OMIM:277440
Hypophosphatemic Rickets, X-Linked Recessive
Hypophosphatemia, Hypophosphatemic rickets OMIM:300554
Hyperparathyroidism, Neonatal Severe
Hypophosphatemia, Hypercalcemia, Calcinosis OMIM:239200
Acute Liver Failure
Elevated circulating hepatic transaminase concentration, Hepatitis, Hepatocellular necrosis, Hepa... ORPHA:90062
Oncogenic Osteomalacia
Hypophosphatemia, Hypocalcemia ORPHA:352540
Familial Cold Autoinflammatory Syndrome 1
Elevated circulating C-reactive protein concentration, Renal amyloidosis OMIM:120100
Metaphyseal Chondrodysplasia, Jansen Type
Hypophosphatemia, Hypercalcemia OMIM:156400
Muckle-Wells Syndrome
Elevated circulating C-reactive protein concentration, Renal amyloidosis OMIM:191900
Blau Syndrome
Uveitis, Nongranulomatous uveitis, Eczematoid dermatitis, Joint swelling, Cystoid macular edema, ... OMIM:186580
Vexas Syndrome
Arteritis, Inflammatory abnormality of the skin, Neutrophilic infiltration of the skin, Nasal cho... OMIM:301054
Juvenile Nephropathic Cystinosis
Hypouricemia, Elevated circulating creatinine concentration, Hypocalcemic tetany, Hypocalcemia, H... ORPHA:411634
Centrifugal Lipodystrophy
Inflammatory abnormality of the skin, Lymphadenitis ORPHA:90156
Hypocalcemic Vitamin D-Dependent Rickets
Hypocalcemic seizures, Hypophosphatemia, Hypocalcemia ORPHA:289157
Fanconi-Bickel Syndrome
Hypophosphatemia, Hypertriglyceridemia ORPHA:2088
Hereditary Fructose Intolerance
Hypermagnesemia, Hypophosphatemia, Hyperuricemia ORPHA:469
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatocellular necrosis, Hepatosplenomegaly, Microvesicular hepatic steatosis, Hepatomegaly, Unco... OMIM:618278
Multiple Endocrine Neoplasia, Type Iia
Cutaneous lichen amyloidosis OMIM:171400
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Seborrheic dermatitis OMIM:210210
Familial Mediterranean Fever, Autosomal Dominant
Peritonitis, Renal amyloidosis OMIM:134610
Trichothiodystrophy
Eczematoid dermatitis, Panhypogammaglobulinemia, Congenital exfoliative erythroderma, Keratoconju... ORPHA:33364
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypermagnesemia, Hypocalcemic seizures, Hypercalcemia ORPHA:405
Monosomy 22
Seborrheic dermatitis, Joint swelling ORPHA:96123
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Ascites, Seborrheic dermatitis, Aspiration pneumonia OMIM:301072
Dent Disease 1
Hypophosphatemia OMIM:300009
Alport Syndrome 3A, Autosomal Dominant
Hypophosphatemia, Azotemia OMIM:104200
Infantile Nephropathic Cystinosis
Hypokalemia, Abnormal blood ion concentration, Hypophosphatemia ORPHA:411629
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Pneumonia, Inflammatory abnormality of the skin, Eczematoid dermatitis, Hepatitis, Increased circ... ORPHA:37042
Primary Fanconi Renotubular Syndrome
Hypouricemia, Decreased circulating carnitine concentration, Hypophosphatemic rickets, Hypokalemi... ORPHA:3337
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Hypomagnesemia, Transient hypophosphatemia, Hyperkalemia, Mildly elevated c... ORPHA:79102
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Seborrheic dermatitis, Eczematoid dermatitis ORPHA:369950
Opsismodysplasia
Hypophosphatemia OMIM:258480
Lysinuric Protein Intolerance
Hepatosplenomegaly, Increased LDL cholesterol concentration, Hyperglycinemia, Cirrhosis, Hepatome... ORPHA:470
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Polyhydramnios, Seborrheic dermatitis, Hydrops fetalis OMIM:300868
Multiple Endocrine Neoplasia Type 2
Cutaneous lichen amyloidosis, Neoplasm of the liver, Hypercalcemia ORPHA:653
Hemihyperplasia-Multiple Lipomatosis Syndrome
Seborrheic dermatitis ORPHA:276280
Fibrous Dysplasia Of Bone
Hypophosphatemia, Hypercalcemia ORPHA:249
Thrombocytopenia-Absent Radius Syndrome
Edema of the dorsum of feet, Edema of the dorsum of hands, Seborrheic dermatitis, Decreased circu... OMIM:274000
Muckle-Wells Syndrome
Hepatomegaly, Renal amyloidosis, Splenomegaly ORPHA:575
Inherited Creutzfeldt-Jakob Disease
Amyloidosis of peripheral nerves ORPHA:282166
Cystinosis, Nephropathic
Decreased circulating carnitine concentration, Hypomagnesemia, Hypophosphatemic rickets, Hypokale... OMIM:219800
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Eczematoid dermatitis, Superficial dermal perivascular inflammatory infiltrate, Seborrheic dermat... ORPHA:83617
Raine Syndrome
Hypophosphatemia OMIM:259775
Mccune-Albright Syndrome
Hypophosphatemia ORPHA:562
22Q11.2 Deletion Syndrome
Impaired T cell function, Seborrheic dermatitis, Arthritis, Polyhydramnios, Acne, Chronic otitis ... ORPHA:567
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Pneumonia, Recurrent pneumonia, Inflammatory abnormality of the skin, Chronic mucocutaneous candi... OMIM:102700
Pearson Syndrome
Hypomagnesemia, Hypocalcemia, Hypokalemia, Hypophosphatemia, Hyperalaninemia ORPHA:699
Attrv122I Amyloidosis
Increased circulating NT-proBNP concentration, Cardiac amyloidosis ORPHA:85451
Fructose Intolerance, Hereditary
Hypophosphatemia, Hyperbilirubinemia, Hyperuricemia, Bicarbonaturia OMIM:229600
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Hypokalemia, Hypophosphatemia, Hypercholesterolemia, Hypoammonemia ORPHA:534
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Hydromyelia, Keratitis, Eczematoid dermatitis, Oligohydramnios, Erythroderma, Recurrent skin infe... OMIM:308205
Hyperparathyroidism-Jaw Tumor Syndrome
Hypophosphatemia, Hypercalcemia ORPHA:99880
Parathyroid Carcinoma
Hypophosphatemia, Hypercalcemia ORPHA:143
Dent Disease
Renal hypophosphatemia, Elevated circulating creatine kinase concentration ORPHA:1652
Autosomal Recessive Hypophosphatemic Rickets
Renal hypophosphatemia, Hypophosphatemic rickets ORPHA:289176
Autosomal Recessive Malignant Osteopetrosis
Hypophosphatemia, Hypocalcemia ORPHA:667
Digeorge Syndrome
Recurrent pneumonia, Impaired T cell function, Recurrent otitis media, Recurrent sinusitis, Sebor... OMIM:188400
X-Linked Hypophosphatemia
Hypophosphatemia ORPHA:89936
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Renal amyloidosis, Abnormal circulating selenium concentration, Decreased plasma total carnitine,... 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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