Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
sodium channel, voltage-gated, type IX, alpha
Synonyms:
PN1

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Scn9a 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 Scn9a by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Paroxysmal Extreme Pain Disorder
Seizure ORPHA:46348
Indifference To Pain, Congenital, Autosomal Recessive
Urinary incontinence, Anosmia, Hyposmia OMIM:243000
Generalized Epilepsy With Febrile Seizures-Plus
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... ORPHA:36387
Dravet Syndrome
Generalized clonic seizure, Focal hemiclonic seizure, Photosensitive myoclonic seizure, Febrile s... ORPHA:33069
Primary Erythromelalgia
Pruritus ORPHA:90026
Erythermalgia, Primary
Keratoconjunctivitis sicca, Pruritus OMIM:133020
Hereditary Sensory And Autonomic Neuropathy Type 2
ORPHA:970
Paroxysmal Extreme Pain Disorder
OMIM:167400

The table below shows human diseases predicted to be associated to Scn9a by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Intellectual Developmental Disorder, X-Linked 96
Seizure OMIM:300802
Mental Retardation, Autosomal Dominant 3
Seizure OMIM:612580
Mental Retardation, Autosomal Dominant 41
Seizure OMIM:616944
Glycosylphosphatidylinositol Biosynthesis Defect 16
Seizure OMIM:617816
Encephalitis/Encephalopathy, Mild, With Reversible Myelin Vacuolization
Seizure OMIM:618113
15q13.3 microdeletion syndrome
Seizure DECIPHER:74
Epilepsy, Nocturnal Frontal Lobe, 3
Seizure OMIM:605375
Autism, Susceptibility To, X-Linked 6
Seizure OMIM:300872
Intellectual Developmental Disorder, Autosomal Recessive 52
Seizure OMIM:616887
Mental Retardation, Autosomal Dominant 2
Seizure OMIM:614113
Kifafa Seizure Disorder
Seizure OMIM:245180
Mental Retardation, X-Linked 88
Seizure OMIM:300852
Mental Retardation, Autosomal Recessive 10
Seizure OMIM:611096
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Pyknoachondrogenesis
Stillbirth OMIM:265880
Epilepsy, Nocturnal Frontal Lobe, 1
Seizure, Focal-onset seizure OMIM:600513
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Immunodeficiency 51
Eczema, Folliculitis, Pustule, Chronic furunculosis, Pneumonia, Recurrent bronchitis, Chronic ora... OMIM:613953
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Micropenis, Anosmia, Hyposmia OMIM:614897
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Micropenis, Anosmia, Hyposmia OMIM:614838
Dermoid Cysts, Familial Frontonasal
Nasal congestion, Anosmia, Wide nasal bridge, Deviated nasal septum OMIM:600679
Paroxysmal Extreme Pain Disorder
Seizure ORPHA:46348
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Micropenis, Anosmia, Hyposmia OMIM:612702
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia
Anosmia, Hyposmia OMIM:615267
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Body Mass Index Quantitative Trait Locus 19
Anosmia, Hyposmia OMIM:617885
Chondrodysplasia Punctata 1, X-Linked Recessive
Anosmia, Short nose, Depressed nasal bridge, Short nasal septum OMIM:302950
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Micropenis, Anosmia OMIM:616030
Thumb Agenesis, Short Stature, And Immunodeficiency
Anosmia OMIM:274190
Brachytelephalangy With Characteristic Facies And Kallmann Syndrome
Anosmia, Depressed nasal bridge OMIM:113480
Musk, Inability To Smell
Anosmia OMIM:254150
Apnea, Obstructive Sleep
Anosmia OMIM:107650
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Anosmia OMIM:614839
Anosmia, Isolated Congenital
Anosmia OMIM:107200
Anosmia For Butyl Mercaptan
Anosmia OMIM:270350
Isovaleric Acid, Inability To Smell
Anosmia OMIM:243450
Anosmia, Isolated Congenital, X-Linked
Anosmia OMIM:301700
Anosmia For Isobutyric Acid
Partial anosmia OMIM:207000
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Micropenis, Anosmia, Unilateral renal agenesis OMIM:244200
Freesia Flowers, Inability To Smell
Specific anosmia OMIM:229250
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Micropenis, Anosmia OMIM:610628
Indifference To Pain, Congenital, Autosomal Recessive
Urinary incontinence, Anosmia, Hyposmia OMIM:243000
Familial Reactive Perforating Collagenosis
Inflammatory abnormality of the skin, Pruritus, Perifolliculitis, Maculopapular exanthema, Crusti... ORPHA:79147
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Anosmia OMIM:614858
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Anosmia OMIM:614842
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Anosmia OMIM:612370
Bardet-Biedl Syndrome 17
Renal cyst, Stage 5 chronic kidney disease, Micropenis, Polyuria, Anosmia, Hyposmia OMIM:615994
Chronic Actinic Dermatitis
Late onset atopic dermatitis, Eczema, Allergic rhinitis, Erythroderma, Pruritus ORPHA:330064
Leber Congenital Amaurosis 10
Hyposmia OMIM:611755
Peroxisome Biogenesis Disorder 9B
Anosmia OMIM:614879
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Micropenis, Anosmia OMIM:614837
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Micropenis, Anosmia, Choanal atresia OMIM:147950
Bardet-Biedl Syndrome 19
Renal insufficiency, Hyposmia OMIM:615996
Benign Cephalic Histiocytosis
Inflammatory abnormality of the skin, Skin rash ORPHA:157997
Neuropathy, Hereditary Sensory And Autonomic, Adult-Onset, With Anosmia
Anosmia, Hyposmia OMIM:608720
Blepharophimosis With Ptosis, Syndactyly, And Short Stature
Anosmia, Wide nasal bridge OMIM:210745
Kerion Celsi
Inflammatory abnormality of the skin, Recurrent skin infections, Recurrent cutaneous abscess form... ORPHA:499
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Short nose, Anosmia, Hypoplasia of penis, Abnormality of the nares ORPHA:1295
Ciliary Dyskinesia, Primary, 1
Nasal polyposis, Pneumonia, Bronchiectasis, Chronic otitis media, Chronic rhinitis, Recurrent bro... OMIM:244400
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome
Anosmia ORPHA:2057
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Decreased motor nerve conduction velocity, Anosmia OMIM:601152
Refsum Disease, Classic
Abnormal renal physiology, Anosmia OMIM:266500
Johnson Neuroectodermal Syndrome
Micropenis, Anosmia, Choanal stenosis OMIM:147770
Pityriasis Rubra Pilaris
Pruritus, Eczema, Erythroderma, Pustule ORPHA:2897
Hypogonadotropic Hypogonadism 25 With Anosmia
Micropenis, Anosmia OMIM:618841
Solitary Median Maxillary Central Incisor
Midnasal stenosis, Pyriform aperture stenosis, Abnormal nasopharynx morphology, Choanal atresia, ... OMIM:147250
Johnson Neuroectodermal Syndrome
Anosmia, Choanal atresia, Bulbous nose ORPHA:2316
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death OMIM:273680
Congenital Hypothyroidism
Sinusitis, Depressed nasal ridge, Anosmia, Nephrolithiasis ORPHA:442
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Micropenis, Anosmia, Hyposmia, Unilateral renal agenesis OMIM:308700
Refsum Disease
Anosmia, Renal insufficiency ORPHA:773
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Micropenis, Anosmia OMIM:614841
Kufor-Rakeb Syndrome
Anosmia, Hyposmia OMIM:606693
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Aplasia/Hypoplasia involving the nose, Abnormality of the sense of smell, Choanal atresia ORPHA:1135
Kallmann Syndrome With Spastic Paraplegia
Micropenis, Anosmia, Unilateral renal agenesis OMIM:308750
Immunodeficiency 58
Eczema, Allergic rhinitis, Recurrent cutaneous abscess formation, Chronic otitis media, Seborrhei... OMIM:618131
Alopecia-Intellectual Disability Syndrome 4
Hypospadias, Micropenis, Erythroderma OMIM:618840
Bullous Diffuse Cutaneous Mastocytosis
Pruritus, Erythroderma ORPHA:280785
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Infectious encephalitis, Erythroderma, Tubulointerstitial nephritis, Pustule, Inters... ORPHA:139402
Ichthyosis Prematurity Syndrome
Pruritus, Allergic rhinitis, Erythroderma OMIM:608649
Kallmann Syndrome
Anosmia, Micropenis, Hypoplasia of penis, Hyposmia ORPHA:478
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Erythroderma, Pneumonia, Chronic oral candidiasis, Hepatitis, Otitis media, Recurrent pneumonia ORPHA:169160
Ichthyosis, Congenital, Autosomal Recessive 10
Erythroderma OMIM:615024
Septo-Optic Dysplasia Spectrum
Anosmia, Hypoplasia of penis ORPHA:3157
Holoprosencephaly
Depressed nasal ridge, Hypoplasia of penis, Aplasia/Hypoplasia involving the nose, Absent nares, ... ORPHA:2162
Netherton Syndrome
Eczema, Hydronephrosis, Erythroderma, Skin rash, Ectopic kidney, Aminoaciduria ORPHA:634
Erythroderma, Lethal Congenital
Congenital exfoliative erythroderma OMIM:227090
Congenital Non-Bullous Ichthyosiform Erythroderma
Pruritus, Erythroderma, Keratitis ORPHA:79394
Inflammatory Skin And Bowel Disease, Neonatal, 1
Blepharitis, Erythroderma, Pustule OMIM:614328
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Anosmia, Absent brainstem auditory responses, Decreased nerve conduction velocity OMIM:609136
Kallmann Syndrome-Heart Disease Syndrome
Partial anosmia, Micropenis, Total anosmia ORPHA:2326
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Hypoplasia of penis, Absent nares, Anosmia, Hyposmia, Single naris ORPHA:2250
Ichthyosis, Congenital, Autosomal Recessive 7
Erythroderma OMIM:615022
Ichthyosis With Confetti
Erythroderma OMIM:609165
Lamellar Ichthyosis
Chronic otitis media, Pruritus, Erythroderma, Renal insufficiency ORPHA:313
Erythrokeratodermia Variabilis Et Progressiva 1
Erythroderma OMIM:133200
Aural Atresia, Congenital
Hyposmia OMIM:607842
Huntington Disease
Abnormality of the sense of smell ORPHA:399
8P11.2 Deletion Syndrome
Anosmia, Hypoplasia of penis, Depressed nasal bridge ORPHA:251066
Epidermolytic Hyperkeratosis
Erythroderma OMIM:113800
Leukoencephalopathy With Dystonia And Motor Neuropathy
Hyposmia OMIM:613724
Gorlin Syndrome
Abnormality of the sense of smell, Wide nasal bridge ORPHA:377
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Psoriasiform dermatitis, Eczema, Erythroderma, Chronic oral candidiasis, Concave nasal ridge, Thy... OMIM:606367
Ichthyosis, Hystrix-Like, With Deafness
Erythroderma, Punctate keratitis OMIM:602540
Omenn Syndrome
Erythroderma, Nephrotic syndrome, Pneumonia, Pruritus, Thyroiditis ORPHA:39041
Harlequin Ichthyosis
Depressed nasal ridge, Erythroderma ORPHA:457
Marcus-Gunn Syndrome
Abnormality of the sense of smell, Choanal atresia, Nephrolithiasis ORPHA:91412
Pemphigus Foliaceus
Psoriasiform dermatitis, Erythroderma, Pustule, Pruritus, Crusting erythematous dermatitis ORPHA:79481
Trichothiodystrophy 3, Photosensitive
Erythroderma OMIM:616395
Familial Hemophagocytic Lymphohistiocytosis
Infectious encephalitis, Erythroderma, Abnormal renal physiology, Maculopapular exanthema, Skin r... ORPHA:540
Corneodermatoosseous Syndrome
Erythroderma OMIM:122440
Congenital Lethal Erythroderma
Congenital exfoliative erythroderma ORPHA:1954
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eczema, Erythroderma, Hepatitis, Arthritis, Glomerulonephritis OMIM:304790
Chilblain Lupus
Inflammatory abnormality of the skin, Pruritis on hand, Discoid lupus rash, Malar rash, Skin rash ORPHA:90280
Immunodeficiency 85 And Autoimmunity
Oligoarthritis, Eczema, Erythroderma OMIM:619510
8Q21.11 Microdeletion Syndrome
Underdeveloped nasal alae, Eczema, Wide nose, Abnormality of the sense of smell, Hypoplasia of penis ORPHA:284160
Autosomal Dominant Epidermolytic Ichthyosis
Erythroderma ORPHA:312
Epidermodysplasia Verruciformis
Seborrheic dermatitis, Recurrent skin infections, Pustule ORPHA:302
Superficial Siderosis
Partial anosmia, Functional abnormality of the bladder, Anosmia ORPHA:247245
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Abnormality of the sense of smell ORPHA:3201
Netherton Syndrome
Allergic rhinitis, Erythroderma OMIM:256500
S├ęzary Syndrome
Pruritus, Erythroderma ORPHA:3162
Bosma Arhinia Microphthalmia Syndrome
Hypospadias, Aplasia of the nose, Micropenis, Choanal atresia, Anosmia OMIM:603457
Immunodeficiency 25
Recurrent pneumonia, Erythroderma OMIM:610163
Ichthyosis, Congenital, Autosomal Recessive 1
Erythroderma OMIM:242300
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Erythroderma, Conjunctivitis OMIM:242150
Waardenburg Syndrome, Type 2E
Anosmia OMIM:611584
Congenital Disorder Of Glycosylation, Type If
Erythroderma OMIM:609180
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Psoriasiform dermatitis, Recurrent skin infections, Erythroderma OMIM:615508
Hyperostosis Cranialis Interna
Hyposmia OMIM:144755
Omenn Syndrome
Erythroderma, Pneumonia OMIM:603554
X-Linked Dominant Chondrodysplasia Punctata
Hydronephrosis, Erythroderma, Depressed nasal bridge ORPHA:35173
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Erythroderma, Keratitis OMIM:308205
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Prominent nose, Broad nasal tip, Erythroderma, Depressed nasal bridge OMIM:617425
Complex Regional Pain Syndrome
Allodynia ORPHA:83452
Diffuse Cutaneous Mastocytosis
Pruritus, Erythroderma ORPHA:79456
Bathing Suit Ichthyosis
Erythroderma ORPHA:100976
Chondrodysplasia Punctata 2, X-Linked Dominant
Hydronephrosis, Erythroderma, Concave nasal ridge OMIM:302960
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Recurrent upper respiratory tract infections, Erythroderma ORPHA:169154
Hydrolethalus
Abnormality of the sense of smell ORPHA:2189
Complement Component 5 Deficiency
Generalized seborrheic dermatitis OMIM:609536
Erythroderma Desquamativum
Seborrheic dermatitis ORPHA:314
Ichthyosis, Congenital, Autosomal Recessive 5
Erythroderma OMIM:604777
Candidiasis, Familial, 8
Seborrheic dermatitis, Blepharitis OMIM:615527
Benign Schwannoma
Allodynia, Nasal polyposis, Abnormality of peripheral nervous system electrophysiology ORPHA:252164
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Seborrheic dermatitis, Acne OMIM:614441
Lacrimoauriculodentodigital Syndrome
Keratoconjunctivitis sicca, Renal hypoplasia, Hydronephrosis, Arthritis, Anosmia, Vesicoureteral ... ORPHA:2363
Charge Syndrome
Horseshoe kidney, Hydronephrosis, Depressed nasal bridge, Micropenis, Vesicoureteral reflux, Choa... ORPHA:138
Campomelic Dysplasia
Abnormality of the sense of smell, Hydronephrosis, Depressed nasal bridge ORPHA:140
Biotinidase Deficiency
Seborrheic dermatitis, Recurrent skin infections, Skin rash, Organic aciduria, Conjunctivitis OMIM:253260
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death OMIM:276822
Seborrhea-Like Dermatitis With Psoriasiform Elements
Seborrheic dermatitis OMIM:610227
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant
Seborrheic dermatitis, Elevated urinary prostaglandin E2 level, Acne OMIM:167100
Waardenburg Syndrome, Type 4C
Anosmia OMIM:613266
Ichthyosis And Male Hypogonadism
Anosmia OMIM:308200
Transketolase Deficiency
Seborrheic dermatitis, Renal cyst, Uveitis, Increased level of ribose in urine, Conjunctivitis ORPHA:488618
Trigeminal Neuralgia
Allodynia ORPHA:221091
Trichothiodystrophy 1, Photosensitive
Keratoconjunctivitis sicca, Erythroderma OMIM:601675
Ichthyosis, Congenital, Autosomal Recessive 6
Erythroderma OMIM:612281
Acro-Renal-Mandibular Syndrome
Abnormality of the sense of smell ORPHA:958
Neurotrophic Keratopathy
Allodynia, Anterior uveitis ORPHA:137596
Anterior Cutaneous Nerve Entrapment Syndrome
Allodynia ORPHA:51890
Copper Deficiency, Familial Benign
Seborrheic dermatitis OMIM:121270
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Cholangitis, Eczema, Erythroderma, Pruritus, Arthritis, Pan... ORPHA:3260
Pachydermoperiostosis
Eczematoid dermatitis, Seborrheic dermatitis, Acne, Arthritis, Osteomyelitis ORPHA:2796
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Seborrheic dermatitis, Hyperglycinuria, Organic aciduria, Ketonuria OMIM:210210
Ameloonychohypohidrotic Syndrome
Seborrheic dermatitis OMIM:104570
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Seborrheic dermatitis, Eczematoid dermatitis, Arthritis OMIM:259100
Amoebiasis Due To Free-Living Amoebae
Sinusitis, Unusual skin infection, Infectious encephalitis, Pneumonia, Pustule, Hyposmia ORPHA:68
Parkinson Disease 8, Autosomal Dominant
Hyposmia OMIM:607060
Letterer-Siwe Disease
Seborrheic dermatitis, Stomatitis OMIM:246400
Moebius Syndrome
Abnormality of the sense of smell, Blepharitis ORPHA:570
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Depressed nasal bridge, Seborrheic dermatitis, Hypsarrhythmia, Micropenis, Vesicoureteral reflux,... OMIM:300868
Yao Syndrome
Keratoconjunctivitis sicca, Inflammatory abnormality of the skin, Pericarditis, Arthritis, Nephro... OMIM:617321
Young-Onset Parkinson Disease
Hyposmia ORPHA:2828
Charge Syndrome
Horseshoe kidney, Hydronephrosis, Renal hypoplasia, Micropenis, Choanal atresia, Anosmia OMIM:214800
Monosomy 22
Seborrheic dermatitis, Wide nose, Micropenis, Prominent nasolabial fold ORPHA:96123
Trichothiodystrophy
Keratoconjunctivitis sicca, Eczema, Congenital exfoliative erythroderma, Conjunctivitis ORPHA:33364
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Seborrheic dermatitis, Enuresis, Eczema, Convex nasal ridge ORPHA:369950
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Underdeveloped nasal alae, Eczema, Hydronephrosis, Superficial dermal perivascular inflammatory i... ORPHA:83617
Hereditary Late-Onset Parkinson Disease
Spastic/hyperactive bladder, Hyposmia ORPHA:411602
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Hydronephrosis, Pelvic kidney, Micropenis, Vesicoureteral reflux, Hyposmia OMIM:618653
22Q11.2 Deletion Syndrome
Hypospadias, Renal hypoplasia, Chronic otitis media, Seborrheic dermatitis, Acne, Arthritis, Wide... ORPHA:567
Occipital Horn Syndrome
Abnormality of the sense of smell, Hepatitis, Bladder diverticulum, Esophagitis ORPHA:198
Majeed Syndrome
Inflammatory abnormality of the skin, Abnormal inflammatory response, Pustule, Synovitis, Acne, O... ORPHA:77297
Interstitial Granulomatous Dermatitis With Arthritis
Inflammatory abnormality of the skin, Pruritus, Rheumatoid arthritis ORPHA:79099
Leopard Syndrome 1
Hypospadias, Depressed nasal ridge, Micropenis, Unilateral renal agenesis, Hyposmia OMIM:151100
Thrombocytopenia-Absent Radius Syndrome
Seborrheic dermatitis, Horseshoe kidney, Anteverted nares OMIM:274000
Generalized Epilepsy With Febrile Seizures-Plus
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... ORPHA:36387
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Inflammatory abnormality of the skin, Eczematoid dermatitis, Eczema, Psoriasiform dermatitis, Tub... ORPHA:37042
Meningioma
Abnormality of the sense of smell, Urinary incontinence ORPHA:2495
Vexas Syndrome
Inflammatory abnormality of the skin, Nasal chondritis, Chondritis of pinna, Neutrophilic infiltr... OMIM:301054
Hemihyperplasia-Multiple Lipomatosis Syndrome
Seborrheic dermatitis, Enlarged kidney ORPHA:276280
Graft Versus Host Disease
Inflammatory abnormality of the skin, Pneumonia, Stomatitis, Myositis, Fasciitis, Arthritis, Acut... ORPHA:39812
Igg4-Related Kidney Disease
Tubulointerstitial nephritis, Chronic kidney disease, Inflammatory abnormality of the skin, Peric... ORPHA:449395
Malakoplakia
Inflammatory abnormality of the skin, Urinary bladder inflammation, Urinary urgency, Urinary hesi... ORPHA:556
Uremic Pruritus
Inflammatory abnormality of the skin, Pruritus, Stage 5 chronic kidney disease, Recurrent skin in... ORPHA:94059
Digeorge Syndrome
Seborrheic dermatitis, Hydronephrosis, Acne, Unilateral renal agenesis OMIM:188400
Dravet Syndrome
Generalized clonic seizure, Focal hemiclonic seizure, Photosensitive myoclonic seizure, Febrile s... ORPHA:33069
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Inflammatory abnormality of the skin, Eczema, Infectious encephalitis, Bronchiectasis, Renovascul... ORPHA:391487
Progressive Supranuclear Palsy
Abnormal synaptic transmission ORPHA:683
Primary Erythromelalgia
Pruritus ORPHA:90026
Erythermalgia, Primary
Keratoconjunctivitis sicca, Pruritus OMIM:133020
Paroxysmal Extreme Pain Disorder
OMIM:167400
Hereditary Sensory And Autonomic Neuropathy Type 2
ORPHA:970

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 Scn9a

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 Scn9a.

No publications found that use IMPC mice or data for Scn9a.

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