Gene Summary

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

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
decreased lean body mass Scn11aem1(IMPC)H HOM Early adult 1.90×10-05

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

X-ray

XRay Images Whole Body Lateral Orientation

4 Images

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
Schizophrenia
EEG abnormality OMIM:181500
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Decreased motor nerve conduction velocity, Skin ulcer, Acral ulceration ORPHA:139578
Non-Epidermolytic Palmoplantar Keratoderma
Erythema, Skin ulcer ORPHA:2337
Chilblain Lupus 1
Skin ulcer OMIM:610448
Proliferating Trichilemmal Cyst
Skin ulcer ORPHA:492
Dermatofibrosarcoma Protuberans
Erythema, Skin ulcer ORPHA:31112
Laryngoonychocutaneous Syndrome
Skin ulcer OMIM:245660
Neuropathy, Hereditary Sensory And Autonomic, Type Ic
Decreased motor nerve conduction velocity, Skin ulcer OMIM:613640
Flynn-Aird Syndrome
Skin ulcer, EEG abnormality ORPHA:2047
Hereditary Sensory And Autonomic Neuropathy Type 1
Penetrating foot ulcers, Skin ulcer, Decreased amplitude of sensory action potentials ORPHA:36386
Complex Regional Pain Syndrome
Allodynia ORPHA:83452
Buerger Disease
Skin ulcer ORPHA:36258
Classic Mycosis Fungoides
Dry skin, Erythema, Skin ulcer ORPHA:2584
Aplasia Cutis Congenita
Skin ulcer ORPHA:1114
Dracunculiasis
Skin ulcer ORPHA:231
Hyperkeratosis Lenticularis Perstans
Skin ulcer ORPHA:409
Acrogeria
Excessive wrinkled skin, Skin ulcer ORPHA:2500
Juvenile Hyaline Fibromatosis
Skin ulcer ORPHA:2028
Dermatoosteolysis, Kirghizian Type
Skin ulcer OMIM:221810
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Skin ulcer, Purpura ORPHA:743
Chilblain Lupus
Skin ulcer ORPHA:90280
Necrobiosis Lipoidica
Erythema, Skin ulcer ORPHA:542592
Trigeminal Neuralgia
Allodynia ORPHA:221091
Congenital Factor Xii Deficiency
Penetrating foot ulcers ORPHA:330
Aplasia Cutis-Myopia Syndrome
Skin ulcer ORPHA:1117
Reticular Dysgenesis
Skin ulcer ORPHA:33355
Limited Cutaneous Systemic Sclerosis
Skin ulcer ORPHA:220402
Ollier Disease
Skin ulcer ORPHA:296
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism
Penetrating foot ulcers, Decreased nerve conduction velocity OMIM:118301
Anterior Cutaneous Nerve Entrapment Syndrome
Allodynia ORPHA:51890
Immunodeficiency, Common Variable, 12, With Autoimmunity
Pyoderma gangrenosum OMIM:616576
Beta-Thalassemia
Pallor, Skin ulcer ORPHA:848
Isolated Agammaglobulinemia
Skin ulcer ORPHA:229717
Combined Immunodeficiency Due To Dock8 Deficiency
Skin ulcer ORPHA:217390
Autosomal Dominant Epidermolytic Ichthyosis
Skin ulcer ORPHA:312
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome
Skin ulcer ORPHA:2218
Leishmaniasis
Pallor, Skin ulcer ORPHA:507
Polyarteritis Nodosa
Erythema, Skin ulcer ORPHA:767
Bare Lymphocyte Syndrome, Type I
Skin ulcer OMIM:604571
Neurotrophic Keratopathy
Allodynia ORPHA:137596
Takayasu Arteritis
Skin ulcer ORPHA:3287
Pyoderma Gangrenosum
Skin ulcer, Skin vesicle ORPHA:48104
Brooke-Spiegler Syndrome
Skin ulcer ORPHA:79493
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Skin ulcer ORPHA:69126
Cryoglobulinemic Vasculitis
Purpura, Skin ulcer, Petechiae ORPHA:91138
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pyoderma gangrenosum OMIM:604416
Adult Polyglucosan Body Disease
Skin ulcer ORPHA:206583
Lichen Planopilaris
Skin ulcer ORPHA:525
Attenuated Chédiak-Higashi Syndrome
Skin ulcer ORPHA:352723
Dermatoosteolysis, Kirghizian Type
Skin ulcer ORPHA:1657
Familial Multiple Nevi Flammei
Skin ulcer ORPHA:624
Calciphylaxis
Skin ulcer ORPHA:280062
Charcot-Marie-Tooth Disease, Guadalajara Neuronal Type
Penetrating foot ulcers OMIM:118230
Benign Schwannoma
Allodynia ORPHA:252164
Squamous Cell Carcinoma Of The Anal Canal
Skin ulcer ORPHA:424019
Prolidase Deficiency
Skin ulcer, Petechiae OMIM:170100
Infantile Myofibromatosis
Skin ulcer ORPHA:2591
X-Linked Agammaglobulinemia
Skin ulcer ORPHA:47
Free Sialic Acid Storage Disease
Skin ulcer ORPHA:834
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Erythema, Skin ulcer ORPHA:659
Prolidase Deficiency
Dry skin, Erythema, Skin ulcer ORPHA:742
Familial Keratoacanthoma
Skin ulcer ORPHA:493
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Pyoderma gangrenosum OMIM:150550
Autosomal Dominant Hyper-Ige Syndrome
Skin ulcer, Skin vesicle ORPHA:2314
Acquired Purpura Fulminans
Pyoderma gangrenosum, Macular purpura ORPHA:49566
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Skin ulcer ORPHA:86884
Reynolds Syndrome
Skin ulcer ORPHA:779
Acrodermatitis Enteropathica
Dry skin, Erythema, Skin ulcer ORPHA:37
Neutrophilic Dermatosis, Acute Febrile
Pyoderma gangrenosum, Erythema OMIM:608068
Livedoid Vasculopathy
Ecchymosis, Skin ulcer, Macular purpura ORPHA:542643
Charcot-Marie-Tooth Disease Type 4B2
Penetrating foot ulcers, Decreased distal sensory nerve action potential ORPHA:99956
Ectodermal Dysplasia-Blindness Syndrome
Skin ulcer ORPHA:1806
Hereditary Spherocytosis
Pallor, Skin ulcer ORPHA:822
Microscopic Polyangiitis
Erythema, Skin ulcer ORPHA:727
Chronic Mucocutaneous Candidiasis
Erythema, Skin ulcer ORPHA:1334
Diffuse Cutaneous Systemic Sclerosis
Skin ulcer ORPHA:220393
Beta-Thalassemia Intermedia
Pallor, Skin ulcer ORPHA:231222
Werner Syndrome
Lack of skin elasticity, Skin ulcer ORPHA:902
Infantile Systemic Hyalinosis
Skin ulcer ORPHA:2176
Meige Disease
Skin ulcer ORPHA:90186
Dominant Beta-Thalassemia
Pallor, Skin ulcer ORPHA:231226
Autosomal Dominant Severe Congenital Neutropenia
Pyoderma gangrenosum ORPHA:486
Adult Syndrome
Dry skin, Skin ulcer ORPHA:978
Chronic Granulomatous Disease
Skin ulcer ORPHA:379
Giant Cell Arteritis
Skin ulcer ORPHA:397
Juvenile Dermatomyositis
Dry skin, Erythema, Skin ulcer ORPHA:93672
Catastrophic Antiphospholipid Syndrome
Skin ulcer ORPHA:464343
Beta-Thalassemia Major
Pallor, Skin ulcer ORPHA:231214
Incontinentia Pigmenti
Erythema, Skin ulcer ORPHA:464
Pgm3-Cdg
Skin ulcer ORPHA:443811
Leukocyte Adhesion Deficiency, Type I
Skin ulcer OMIM:116920
Immunoglobulin A Vasculitis
Purpura, Erythema, Skin ulcer ORPHA:761
Cushing Disease
Fatiguable weakness of proximal limb muscles, Ecchymosis, Striae distensae, Purpura, Skin ulcer ORPHA:96253
Toxic Epidermal Necrolysis
Erythema, Skin ulcer ORPHA:537
Oculocerebrorenal Syndrome Of Lowe
Skin ulcer, EEG abnormality ORPHA:534
Hereditary Acrokeratotic Poikiloderma
Erythema, Skin ulcer ORPHA:2907
Hajdu-Cheney Syndrome
Dry skin, Skin ulcer ORPHA:955
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Purpura, Skin ulcer OMIM:615688
Granulomatosis With Polyangiitis
Skin ulcer OMIM:608710
Fusariosis
Skin ulcer ORPHA:228119
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Dry skin, Scaling skin, Skin ulcer ORPHA:2526
Wiskott-Aldrich Syndrome
Purpura, Skin ulcer, Petechiae ORPHA:906
Amoebiasis Due To Free-Living Amoebae
Skin ulcer ORPHA:68
Systemic Sclerosis
Digital ulcer, Acral ulceration ORPHA:90291
Dyskeratosis Congenita
Skin ulcer, Skin vesicle ORPHA:1775
Malakoplakia
Skin ulcer ORPHA:556
Sweet Syndrome
Pyoderma gangrenosum, Skin vesicle ORPHA:3243
Chime Syndrome
Erythema, Skin ulcer ORPHA:3474
Parkes Weber Syndrome
Scaling skin, Skin ulcer ORPHA:90307
Dermatomyositis
Dry skin, Erythema, Skin ulcer ORPHA:221
Granulomatosis With Polyangiitis
Purpura, Skin ulcer ORPHA:900
Primary Sjögren Syndrome
Dry skin, Purpura, Skin ulcer ORPHA:289390
Blau Syndrome
Skin ulcer OMIM:186580
Angioosteohypertrophic Syndrome
Skin ulcer ORPHA:2346
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Ecchymosis, Skin ulcer ORPHA:2072
Cushing Syndrome Due To Ectopic Acth Secretion
Fatiguable weakness of proximal limb muscles, Ecchymosis, Striae distensae, Purpura, Skin ulcer ORPHA:99889
Blau Syndrome
Dry skin, Erythema, Skin ulcer ORPHA:90340
Adenocarcinoma Of The Anal Canal
Skin ulcer ORPHA:424016
Chronic Graft Versus Host Disease
Erythema, Skin ulcer, Skin vesicle ORPHA:99921
Atypical Werner Syndrome
Lack of skin elasticity, Skin ulcer ORPHA:79474
Leprosy
Penetrating foot ulcers, Acral ulceration ORPHA:548
Plague
Dry skin, Skin ulcer ORPHA:707
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Skin ulcer ORPHA:95455
Leukocyte Adhesion Deficiency
Pyoderma gangrenosum ORPHA:2968
Split Cord Malformation
Penetrating foot ulcers ORPHA:573278
Primary Erythromelalgia
Erythema ORPHA:90026
Episodic Pain Syndrome, Familial, 3
OMIM:615552
Paroxysmal Extreme Pain Disorder
ORPHA:46348
Neuropathy, Hereditary Sensory And Autonomic, Type Vii
OMIM:615548

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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