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Gene: Scn11a MGI:1345149

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Gene Summary

Name:
sodium channel, voltage-gated, type XI, alpha
Synonyms:
NSS2,  NaN,  SNS2,  NaT

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IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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
decreased lean body mass Scn11aem1(IMPC)H HOM Early adult 1.76×10-05

Download data as:  TSV  XLS

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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

4 Images

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X-ray

XRay Images Whole Body Lateral Orientation

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MicroCT E18.5

Embryo reconstruction

4 Images

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Human diseases caused by Scn11a 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 Scn11a by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Primary Erythromelalgia
Erythema ORPHA:90026
Episodic Pain Syndrome, Familial, 3
OMIM:615552
Neuropathy, Hereditary Sensory And Autonomic, Type Vii
OMIM:615548
Paroxysmal Extreme Pain Disorder
ORPHA:46348

The table below shows human diseases predicted to be associated to Scn11a by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Electroencephalographic Peculiarity: 14 And 6 Per Sec. Positive Spike Phenomenon
EEG abnormality OMIM:130200
Photoparoxysmal Response 1
EEG with photoparoxysmal response OMIM:132100
Electroencephalographic Peculiarity: Fronto-Precentral Beta Wave Groups
EEG abnormality OMIM:130300
Epilepsy, Benign Occipital
EEG abnormality OMIM:132090
Epilepsy, Reading
EEG abnormality OMIM:132300
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Decreased motor nerve conduction velocity, Acral ulceration, Skin ulcer ORPHA:139578
Non-Epidermolytic Palmoplantar Keratoderma
Erythema, Skin ulcer ORPHA:2337
Proliferating Trichilemmal Cyst
Skin ulcer ORPHA:492
Dermatofibrosarcoma Protuberans
Erythema, Skin ulcer ORPHA:31112
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection
Pyoderma gangrenosum OMIM:619986
Congenital Factor Xii Deficiency
Penetrating foot ulcers ORPHA:330
Chilblain Lupus 1
Skin ulcer OMIM:610448
Neuropathy, Hereditary Sensory And Autonomic, Type Ic
Decreased motor nerve conduction velocity, Skin ulcer OMIM:613640
Neuropathy, Hereditary Sensory, Type Iic
Acral ulceration OMIM:614213
Flynn-Aird Syndrome
EEG abnormality, Skin ulcer ORPHA:2047
Complex Regional Pain Syndrome
Allodynia ORPHA:83452
Hereditary Sensory And Autonomic Neuropathy Type 1
Penetrating foot ulcers, Skin ulcer, Decreased amplitude of sensory action potentials ORPHA:36386
Buerger Disease
Skin ulcer ORPHA:36258
Classic Mycosis Fungoides
Erythema, Dry skin, Skin ulcer ORPHA:2584
Aplasia Cutis Congenita
Skin ulcer ORPHA:1114
Dracunculiasis
Skin ulcer ORPHA:231
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Acral ulc... OMIM:162400
Hyperkeratosis Lenticularis Perstans
Skin ulcer ORPHA:409
Aplasia Cutis-Myopia Syndrome
Skin ulcer ORPHA:1117
Trigeminal Neuralgia
Allodynia ORPHA:221091
Acrogeria
Excessive wrinkled skin, Skin ulcer ORPHA:2500
Juvenile Hyaline Fibromatosis
Skin ulcer ORPHA:2028
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Skin ulcer, Purpura ORPHA:743
Necrobiosis Lipoidica
Erythema, Skin ulcer ORPHA:542592
Chilblain Lupus
Skin ulcer ORPHA:90280
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Decreased nerve conduction velocity, Decreased sensory nerve conduction velocity, Acral ulceration OMIM:201300
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Decreased motor nerve conduction velocity, Acral ulceration, Decreased amplitude of sensory actio... OMIM:256840
Anterior Cutaneous Nerve Entrapment Syndrome
Allodynia ORPHA:51890
Reticular Dysgenesis
Skin ulcer ORPHA:33355
Limited Cutaneous Systemic Sclerosis
Skin ulcer ORPHA:220402
Ollier Disease
Skin ulcer ORPHA:296
Neurotrophic Keratopathy
Allodynia ORPHA:137596
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome
Skin ulcer ORPHA:2218
Isolated Agammaglobulinemia
Skin ulcer ORPHA:229717
Autosomal Dominant Epidermolytic Ichthyosis
Skin ulcer ORPHA:312
Combined Immunodeficiency Due To Dock8 Deficiency
Skin ulcer ORPHA:217390
Bare Lymphocyte Syndrome, Type I
Skin ulcer OMIM:604571
Beta-Thalassemia
Pallor, Skin ulcer ORPHA:848
Leishmaniasis
Pallor, Skin ulcer ORPHA:507
Free Sialic Acid Storage Disease
Skin ulcer ORPHA:834
Polyarteritis Nodosa
Erythema, Skin ulcer ORPHA:767
Takayasu Arteritis
Skin ulcer ORPHA:3287
Brooke-Spiegler Syndrome
Skin ulcer ORPHA:79493
Pyoderma Gangrenosum
Skin vesicle, Skin ulcer ORPHA:48104
Adult Polyglucosan Body Disease
Skin ulcer ORPHA:206583
Lichen Planopilaris
Skin ulcer ORPHA:525
Neuropathy, Hereditary Sensory And Autonomic, Type Iib
Acral ulceration OMIM:613115
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pyoderma gangrenosum OMIM:604416
Cryoglobulinemic Vasculitis
Petechiae, Skin ulcer, Purpura ORPHA:91138
Papa Syndrome
Skin ulcer ORPHA:69126
Dermatoosteolysis, Kirghizian Type
Skin ulcer ORPHA:1657
Squamous Cell Carcinoma Of The Anal Canal
Skin ulcer ORPHA:424019
Immunodeficiency, Common Variable, 12, With Autoimmunity
Pyoderma gangrenosum OMIM:616576
Familial Multiple Nevi Flammei
Skin ulcer ORPHA:624
Attenuated Chédiak-Higashi Syndrome
Skin ulcer ORPHA:352723
Prolidase Deficiency
Petechiae, Skin ulcer OMIM:170100
X-Linked Agammaglobulinemia
Skin ulcer ORPHA:47
Calciphylaxis
Skin ulcer ORPHA:280062
Infantile Myofibromatosis
Skin ulcer ORPHA:2591
Prolidase Deficiency
Erythema, Dry skin, Skin ulcer ORPHA:742
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Pyoderma gangrenosum OMIM:150550
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Erythema, Skin ulcer ORPHA:659
Acquired Purpura Fulminans
Pyoderma gangrenosum, Macular purpura ORPHA:49566
Acute Radiation Syndrome
Scaling skin, Skin ulcer ORPHA:454831
Familial Keratoacanthoma
Skin ulcer ORPHA:493
Autosomal Dominant Hyper-Ige Syndrome
Skin vesicle, Skin ulcer ORPHA:2314
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Skin ulcer ORPHA:86884
Werner Syndrome
Lack of skin elasticity, Skin ulcer ORPHA:902
Acrodermatitis Enteropathica
Erythema, Dry skin, Skin ulcer ORPHA:37
Reynolds Syndrome
Skin ulcer ORPHA:779
Charcot-Marie-Tooth Disease Type 4B2
Decreased distal sensory nerve action potential, Penetrating foot ulcers ORPHA:99956
Neutrophilic Dermatosis, Acute Febrile
Erythema, Pyoderma gangrenosum OMIM:608068
Ectodermal Dysplasia-Blindness Syndrome
Skin ulcer ORPHA:1806
Chronic Mucocutaneous Candidiasis
Erythema, Skin ulcer ORPHA:1334
Beta-Thalassemia Intermedia
Pallor, Skin ulcer ORPHA:231222
Microscopic Polyangiitis
Erythema, Skin ulcer ORPHA:727
Livedoid Vasculopathy
Ecchymosis, Skin ulcer, Macular purpura ORPHA:542643
Diffuse Cutaneous Systemic Sclerosis
Skin ulcer ORPHA:220393
Autosomal Dominant Severe Congenital Neutropenia
Pyoderma gangrenosum ORPHA:486
Hereditary Spherocytosis
Pallor, Skin ulcer ORPHA:822
Benign Schwannoma
Allodynia ORPHA:252164
Infantile Systemic Hyalinosis
Skin ulcer ORPHA:2176
Dominant Beta-Thalassemia
Pallor, Skin ulcer ORPHA:231226
Giant Cell Arteritis
Skin ulcer ORPHA:397
Meige Disease
Skin ulcer ORPHA:90186
Adult Syndrome
Dry skin, Skin ulcer ORPHA:978
Juvenile Dermatomyositis
Erythema, Dry skin, Skin ulcer ORPHA:93672
Catastrophic Antiphospholipid Syndrome
Skin ulcer ORPHA:464343
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Allodynia OMIM:603041
Chronic Granulomatous Disease
Skin ulcer ORPHA:379
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous
Skin ulcer OMIM:245660
Beta-Thalassemia Major
Pallor, Skin ulcer ORPHA:231214
Incontinentia Pigmenti
Erythema, Skin ulcer ORPHA:464
Pgm3-Cdg
Skin ulcer ORPHA:443811
Cushing Disease
Fatiguable weakness of proximal limb muscles, Skin ulcer, Ecchymosis, Striae distensae, Purpura ORPHA:96253
Immunoglobulin A Vasculitis
Erythema, Skin ulcer, Purpura ORPHA:761
Toxic Epidermal Necrolysis
Erythema, Skin ulcer ORPHA:537
Hereditary Acrokeratotic Poikiloderma
Erythema, Skin ulcer ORPHA:2907
Oculocerebrorenal Syndrome Of Lowe
EEG abnormality, Skin ulcer ORPHA:534
Dyskeratosis Congenita
Skin vesicle, Skin ulcer ORPHA:1775
Neuropathy, Hereditary Sensory And Autonomic, Type V
Acral ulceration OMIM:608654
Granulomatosis With Polyangiitis
Skin ulcer OMIM:608710
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Dry skin, Scaling skin, Skin ulcer ORPHA:2526
Leukocyte Adhesion Deficiency, Type I
Skin ulcer OMIM:116920
Hajdu-Cheney Syndrome
Dry skin, Skin ulcer ORPHA:955
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Skin ulcer, Purpura OMIM:615688
Fusariosis
Skin ulcer ORPHA:228119
Wiskott-Aldrich Syndrome
Petechiae, Skin ulcer, Purpura ORPHA:906
Systemic Sclerosis
Acral ulceration, Digital ulcer ORPHA:90291
Chime Syndrome
Erythema, Skin ulcer ORPHA:3474
Sweet Syndrome
Skin vesicle, Pyoderma gangrenosum ORPHA:3243
Parkes Weber Syndrome
Scaling skin, Skin ulcer ORPHA:90307
Amoebiasis Due To Free-Living Amoebae
Skin ulcer ORPHA:68
Malakoplakia
Skin ulcer ORPHA:556
Dermatomyositis
Erythema, Dry skin, Skin ulcer ORPHA:221
Granulomatosis With Polyangiitis
Skin ulcer, Purpura ORPHA:900
Insensitivity To Pain, Congenital, With Anhidrosis
Acral ulceration OMIM:256800
Primary Sjögren Syndrome
Dry skin, Skin ulcer, Purpura ORPHA:289390
Simple Cryoglobulinemia
Acral ulceration, Purpura ORPHA:91139
Blau Syndrome
Skin ulcer OMIM:186580
Adenocarcinoma Of The Anal Canal
Skin ulcer ORPHA:424016
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Ecchymosis, Skin ulcer ORPHA:2072
Atypical Werner Syndrome
Lack of skin elasticity, Skin ulcer ORPHA:79474
Blau Syndrome
Erythema, Dry skin, Skin ulcer ORPHA:90340
Cushing Syndrome Due To Ectopic Acth Secretion
Fatiguable weakness of proximal limb muscles, Skin ulcer, Ecchymosis, Striae distensae, Purpura ORPHA:99889
Chronic Graft Versus Host Disease
Skin vesicle, Erythema, Skin ulcer ORPHA:99921
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acral ulceration OMIM:256810
Plague
Dry skin, Skin ulcer ORPHA:707
Leprosy
Penetrating foot ulcers, Acral ulceration ORPHA:548
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Skin ulcer ORPHA:95455
Split Cord Malformation
Penetrating foot ulcers ORPHA:573278
Leukocyte Adhesion Deficiency
Pyoderma gangrenosum ORPHA:2968
Primary Erythromelalgia
Erythema ORPHA:90026
Neuropathy, Hereditary Sensory And Autonomic, Type Vii
OMIM:615548
Episodic Pain Syndrome, Familial, 3
OMIM:615552
Paroxysmal Extreme Pain Disorder
ORPHA:46348

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 Scn11a

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 Scn11a.

No publications found that use IMPC mice or data for Scn11a.

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MGI Allele Allele Type Produced
Scn11aem1(IMPC)H Exon Deletion Mice
Scn11aem2(IMPC)H Exon Deletion Mice
Scn11atm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Scn11atm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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