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, Hyposmia, Anosmia, Abnormal nerve conduction velocity OMIM:243000
Generalized Epilepsy With Febrile Seizures-Plus
Status epilepticus, Atonic seizure, Focal impaired awareness seizure, Generalized myoclonic seizu... ORPHA:36387
Dravet Syndrome
Atypical absence seizure, Focal hemiclonic seizure, Focal impaired awareness seizure, Generalized... 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
Intellectual Developmental Disorder, Autosomal Dominant 3
Seizure OMIM:612580
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
Kifafa Seizure Disorder
Seizure OMIM:245180
Mental Retardation, X-Linked 88
Seizure OMIM:300852
Intellectual Developmental Disorder, Autosomal Recessive 10
Seizure OMIM:611096
Intellectual Developmental Disorder, Autosomal Dominant 10
Seizure OMIM:614256
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Pyknoachondrogenesis
Stillbirth OMIM:265880
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Lethal Congenital Contracture Syndrome 3
Neonatal death OMIM:611369
Immunodeficiency 51
Chronic furunculosis, Chronic oral candidiasis, Folliculitis, Recurrent cutaneous fungal infectio... OMIM:613953
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Hyposmia, Anosmia, Micropenis OMIM:614838
Dermoid Cysts, Familial Frontonasal
Deviated nasal septum, Nasal congestion, Anosmia, Wide nasal bridge OMIM:600679
Paroxysmal Extreme Pain Disorder
Seizure ORPHA:46348
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Hyposmia, Anosmia, Micropenis OMIM:612702
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Hyposmia, Anosmia, Micropenis OMIM:610628
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Unilateral renal agenesis, Hyposmia, Anosmia, Micropenis OMIM:244200
Chondrodysplasia Punctata 1, X-Linked Recessive
Depressed nasal bridge, Short nose, Short nasal septum, Anosmia OMIM:302950
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Anosmia, Micropenis OMIM:616030
Thumb Agenesis, Short Stature, And Immunodeficiency
Anosmia OMIM:274190
Brachytelephalangy With Characteristic Facies And Kallmann Syndrome
Depressed nasal bridge, Anosmia OMIM:113480
Indifference To Pain, Congenital, Autosomal Recessive
Urinary incontinence, Hyposmia, Anosmia, Abnormal nerve conduction velocity OMIM:243000
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Hyposmia, Choanal atresia, Anosmia, Micropenis OMIM:147950
Apnea, Obstructive Sleep
Anosmia OMIM:107650
Musk, Inability To Smell
Anosmia OMIM:254150
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Anosmia OMIM:614839
Body Mass Index Quantitative Trait Locus 19
Anosmia, Hyposmia OMIM:617885
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
Freesia Flowers, Inability To Smell
Specific anosmia OMIM:229250
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Anosmia OMIM:615270
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Anosmia OMIM:614858
Familial Reactive Perforating Collagenosis
Inflammatory abnormality of the skin, Perifolliculitis, Maculopapular exanthema, Crusting erythem... ORPHA:79147
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia
Anosmia OMIM:615267
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Anosmia OMIM:612370
Chronic Actinic Dermatitis
Eczema, Allergic rhinitis, Late onset atopic dermatitis, Pruritus, Erythroderma ORPHA:330064
Bardet-Biedl Syndrome 17
Hyposmia, Micropenis, Polyuria, Renal cyst, Anosmia, Stage 5 chronic kidney disease OMIM:615994
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Anosmia, Micropenis OMIM:614837
Leber Congenital Amaurosis 10
Hyposmia OMIM:611755
Peroxisome Biogenesis Disorder 9B
Anosmia OMIM:614879
Hyperostosis Cranialis Interna
Anosmia, Hyposmia OMIM:144755
Bardet-Biedl Syndrome 19
Renal insufficiency, Hyposmia OMIM:615996
Neuropathy, Hereditary Sensory And Autonomic, Adult-Onset, With Anosmia
Anosmia, Hyposmia OMIM:608720
Benign Cephalic Histiocytosis
Inflammatory abnormality of the skin, Skin rash ORPHA:157997
Blepharophimosis With Ptosis, Syndactyly, And Short Stature
Anosmia, Wide nasal bridge OMIM:210745
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Abnormality of the nares, Short nose, Anosmia, Hypoplasia of penis ORPHA:1295
Kerion Celsi
Inflammatory abnormality of the skin, Recurrent cutaneous abscess formation, Recurrent skin infec... ORPHA:499
Ciliary Dyskinesia, Primary, 1
Chronic otitis media, Chronic rhinitis, Anosmia, Chronic sinusitis, Recurrent bronchitis, Pneumon... 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
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Hyposmia OMIM:615271
Hypogonadotropic Hypogonadism 25 With Anosmia
Anosmia, Micropenis OMIM:618841
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Hyposmia, Anosmia, Micropenis OMIM:614897
Refsum Disease, Classic
Anosmia, Abnormal renal physiology OMIM:266500
Pityriasis Rubra Pilaris
Erythroderma, Eczema, Pustule, Pruritus ORPHA:2897
Johnson Neuroectodermal Syndrome
Choanal stenosis, Anosmia, Micropenis OMIM:147770
Johnson Neuroectodermal Syndrome
Bulbous nose, Choanal atresia, Anosmia ORPHA:2316
Solitary Median Maxillary Central Incisor
Abnormal nasopharynx morphology, Pyriform aperture stenosis, Choanal atresia, Midnasal stenosis, ... OMIM:147250
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death OMIM:273680
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Anosmia, Micropenis OMIM:614841
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Unilateral renal agenesis, Hyposmia, Anosmia, Micropenis OMIM:308700
Refsum Disease
Anosmia, Renal insufficiency ORPHA:773
Congenital Hypothyroidism
Nephrolithiasis, Sinusitis, Anosmia, Depressed nasal ridge ORPHA:442
Kufor-Rakeb Syndrome
Anosmia, Hyposmia OMIM:606693
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Abnormality of the sense of smell, Choanal atresia, Aplasia/Hypoplasia involving the nose ORPHA:1135
Kallmann Syndrome With Spastic Paraplegia
Unilateral renal agenesis, Anosmia, Micropenis OMIM:308750
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Anosmia OMIM:614842
Alopecia-Intellectual Disability Syndrome 4
Erythroderma, Hypospadias, Micropenis OMIM:618840
Immunodeficiency 58
Dysuria, Colitis, Eczema, Recurrent upper respiratory tract infections, Chronic otitis media, All... OMIM:618131
Bullous Diffuse Cutaneous Mastocytosis
Erythroderma, Pruritus ORPHA:280785
Drug Reaction With Eosinophilia And Systemic Symptoms
Nephrotic syndrome, Pustule, Skin rash, Interstitial pneumonitis, Myocarditis, Tubulointerstitial... ORPHA:139402
Ichthyosis Prematurity Syndrome
Erythroderma, Allergic rhinitis, Pruritus OMIM:608649
Kallmann Syndrome
Hyposmia, Anosmia, Hypoplasia of penis, Micropenis ORPHA:478
Intellectual Developmental Disorder, Fra12A Type
Erythroderma OMIM:136630
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Chronic oral candidiasis, Otitis media, Hepatitis, Recurrent pneumonia, Pneumonia, Erythroderma ORPHA:169160
Septo-Optic Dysplasia Spectrum
Anosmia, Hypoplasia of penis ORPHA:3157
Erythroderma, Lethal Congenital
Congenital exfoliative erythroderma OMIM:227090
Netherton Syndrome
Aminoaciduria, Skin rash, Eczema, Ectopic kidney, Hydronephrosis, Erythroderma ORPHA:634
Holoprosencephaly
Aplasia/Hypoplasia involving the nose, Hypoplasia of penis, Depressed nasal ridge, Hyposmia, Depr... ORPHA:2162
Congenital Non-Bullous Ichthyosiform Erythroderma
Keratitis, Erythroderma, Pruritus ORPHA:79394
Inflammatory Skin And Bowel Disease, Neonatal, 1
Erythroderma, Blepharitis, Pustule OMIM:614328
Ichthyosis, Congenital, Autosomal Recessive 7
Erythroderma OMIM:615022
Kallmann Syndrome-Heart Disease Syndrome
Total anosmia, Partial anosmia, Micropenis ORPHA:2326
Lamellar Ichthyosis
Erythroderma, Chronic otitis media, Renal insufficiency, Pruritus ORPHA:313
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Hypoplasia of penis, Hyposmia, Single naris, Absent nares, Anosmia ORPHA:2250
Erythrokeratodermia Variabilis Et Progressiva 1
Erythroderma OMIM:133200
Epidermolytic Hyperkeratosis
Erythroderma OMIM:113800
Huntington Disease
Abnormality of the sense of smell ORPHA:399
Aural Atresia, Congenital
Hyposmia OMIM:607842
Leukoencephalopathy With Dystonia And Motor Neuropathy
Hyposmia OMIM:613724
8P11.2 Deletion Syndrome
Depressed nasal bridge, Anosmia, Hypoplasia of penis ORPHA:251066
Peeling Skin Syndrome 1
Erythroderma, Pruritus OMIM:270300
Gorlin Syndrome
Abnormality of the sense of smell, Wide nasal bridge ORPHA:377
Ichthyosis, Congenital, Autosomal Recessive 10
Erythroderma OMIM:615024
Omenn Syndrome
Nephrotic syndrome, Pruritus, Pneumonia, Erythroderma, Thyroiditis ORPHA:39041
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Chronic oral candidiasis, Psoriasiform dermatitis, Eczema, Erythroderma, Concave nasal ridge, Thy... OMIM:606367
Harlequin Ichthyosis
Erythroderma, Depressed nasal ridge ORPHA:457
Corneodermatoosseous Syndrome
Erythroderma OMIM:122440
Pemphigus Foliaceus
Pustule, Crusting erythematous dermatitis, Pruritus, Erythroderma, Psoriasiform dermatitis ORPHA:79481
Familial Hemophagocytic Lymphohistiocytosis
Colitis, Skin rash, Abnormal renal physiology, Maculopapular exanthema, Infectious encephalitis, ... ORPHA:540
Congenital Lethal Erythroderma
Congenital exfoliative erythroderma ORPHA:1954
Marcus-Gunn Syndrome
Nephrolithiasis, Choanal atresia, Abnormality of the sense of smell ORPHA:91412
Ichthyosis, Hystrix-Like, With Deafness
Erythroderma, Punctate keratitis OMIM:602540
Immunodeficiency 85 And Autoimmunity
Erythroderma, Eczema, Oligoarthritis OMIM:619510
Autosomal Dominant Epidermolytic Ichthyosis
Erythroderma ORPHA:312
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eczema, Arthritis, Hepatitis, Glomerulonephritis, Erythroderma OMIM:304790
8Q21.11 Microdeletion Syndrome
Hypoplasia of penis, Abnormality of the sense of smell, Eczema, Wide nose, Underdeveloped nasal alae ORPHA:284160
Epidermodysplasia Verruciformis
Seborrheic dermatitis, Pustule, Recurrent skin infections ORPHA:302
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Anosmia, Decreased nerve conduction velocity OMIM:609136
Ichthyosis With Confetti
Erythroderma, Pruritus OMIM:609165
Chilblain Lupus
Pruritis on hand, Discoid lupus rash, Inflammatory abnormality of the skin, Skin rash, Malar rash ORPHA:90280
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Hypospadias, Anosmia, Micropenis OMIM:619718
Superficial Siderosis
Functional abnormality of the bladder, Anosmia, Partial anosmia ORPHA:247245
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Abnormality of the sense of smell ORPHA:3201
Netherton Syndrome
Erythroderma, Allergic rhinitis OMIM:256500
S├ęzary Syndrome
Erythroderma, Pruritus ORPHA:3162
Neuropathy, Hereditary Sensory And Autonomic, Type Viii
Hyposmia, Recurrent skin infections OMIM:616488
Immunodeficiency 25
Erythroderma, Recurrent pneumonia OMIM:610163
Congenital Disorder Of Glycosylation, Type If
Erythroderma OMIM:609180
Ichthyosis, Congenital, Autosomal Recessive 1
Erythroderma OMIM:242300
Spinocerebellar Ataxia 34
Erythroderma OMIM:133190
Bosma Arhinia Microphthalmia Syndrome
Micropenis, Hypospadias, Aplasia of the nose, Choanal atresia, Anosmia OMIM:603457
X-Linked Dominant Chondrodysplasia Punctata
Erythroderma, Depressed nasal bridge, Hydronephrosis ORPHA:35173
Omenn Syndrome
Erythroderma, Pneumonia OMIM:603554
Complex Regional Pain Syndrome
Allodynia ORPHA:83452
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Erythroderma, Psoriasiform dermatitis, Recurrent skin infections OMIM:615508
Waardenburg Syndrome, Type 2E
Anosmia OMIM:611584
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Unilateral renal agenesis, Keratitis, Multicystic kidney dysplasia, Erythroderma OMIM:308205
Diffuse Cutaneous Mastocytosis
Erythroderma, Pruritus ORPHA:79456
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Erythroderma, Broad nasal tip, Depressed nasal bridge, Prominent nose OMIM:617425
Bathing Suit Ichthyosis
Erythroderma ORPHA:100976
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Erythroderma, Recurrent upper respiratory tract infections ORPHA:169154
Agammaglobulinemia 9, Autosomal Recessive
Eczematoid dermatitis, Seborrheic dermatitis OMIM:619693
Hydrolethalus
Abnormality of the sense of smell ORPHA:2189
Erythroderma Desquamativum
Seborrheic dermatitis ORPHA:314
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Eczema, Lymphadenitis, Inflammation of the large intestine, Erythroderma, Vesicoureteral reflux OMIM:615895
Chondrodysplasia Punctata 2, X-Linked Dominant
Erythroderma, Concave nasal ridge, Hydronephrosis OMIM:302960
Candidiasis, Familial, 8
Blepharitis, Seborrheic dermatitis OMIM:615527
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Seborrheic dermatitis, Acne OMIM:614441
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Abnormality of the sense of smell, Micropenis OMIM:228300
Biotinidase Deficiency
Skin rash, Recurrent skin infections, Organic aciduria, Seborrheic dermatitis, Conjunctivitis OMIM:253260
Benign Schwannoma
Abnormality of peripheral nervous system electrophysiology, Nasal polyposis, Allodynia ORPHA:252164
Charge Syndrome
Micropenis, Depressed nasal bridge, Horseshoe kidney, Choanal atresia, Hydronephrosis, Vesicouret... ORPHA:138
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Erythroderma, Conjunctivitis OMIM:242150
Ichthyosis, Congenital, Autosomal Recessive 5
Erythroderma OMIM:604777
Lacrimoauriculodentodigital Syndrome
Keratoconjunctivitis, Arthritis, Renal hypoplasia, Choanal atresia, Hydronephrosis, Keratoconjunc... ORPHA:2363
Complement Component 5 Deficiency
Generalized seborrheic dermatitis OMIM:609536
Ichthyosis, Congenital, Autosomal Recessive 9
Erythroderma OMIM:615023
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death OMIM:276822
Trichothiodystrophy 1, Photosensitive
Erythroderma, Keratoconjunctivitis sicca, Short nose OMIM:601675
Seborrhea-Like Dermatitis With Psoriasiform Elements
Seborrheic dermatitis OMIM:610227
Campomelic Dysplasia
Abnormality of the sense of smell, Depressed nasal bridge, Hydronephrosis ORPHA:140
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant
Seborrheic dermatitis, Elevated urinary prostaglandin E2 level, Acne OMIM:167100
Transketolase Deficiency
Increased level of ribose in urine, Renal cyst, Uveitis, Seborrheic dermatitis, Conjunctivitis ORPHA:488618
Waardenburg Syndrome, Type 4C
Anosmia OMIM:613266
Trigeminal Neuralgia
Allodynia ORPHA:221091
Ichthyosis And Male Hypogonadism
Anosmia OMIM:308200
Neurotrophic Keratopathy
Allodynia, Anterior uveitis ORPHA:137596
Ichthyosis, Congenital, Autosomal Recessive 6
Erythroderma OMIM:612281
Copper Deficiency, Familial Benign
Seborrheic dermatitis OMIM:121270
Acro-Renal-Mandibular Syndrome
Abnormality of the sense of smell ORPHA:958
Anterior Cutaneous Nerve Entrapment Syndrome
Allodynia ORPHA:51890
Wilson Disease
Renal tubular dysfunction, Nephrolithiasis, Decreased nerve conduction velocity, Aminoaciduria, H... OMIM:277900
Idiopathic Hypereosinophilic Syndrome
Colitis, Pancreatitis, Inflammatory abnormality of the skin, Eczema, Chronic hepatitis, Arthritis... ORPHA:3260
Pachydermoperiostosis
Osteomyelitis, Eczematoid dermatitis, Arthritis, Acne, Seborrheic dermatitis ORPHA:2796
Ameloonychohypohidrotic Syndrome
Seborrheic dermatitis OMIM:104570
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Seborrheic dermatitis, Eczematoid dermatitis, Arthritis OMIM:259100
Letterer-Siwe Disease
Stomatitis, Seborrheic dermatitis OMIM:246400
Amoebiasis Due To Free-Living Amoebae
Unusual skin infection, Sinusitis, Pustule, Hyposmia, Infectious encephalitis, Pneumonia ORPHA:68
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Organic aciduria, Ketonuria, Hyperglycinuria, Seborrheic dermatitis OMIM:210210
Parkinson Disease 8, Autosomal Dominant
Hyposmia OMIM:607060
Young-Onset Parkinson Disease
Hyposmia ORPHA:2828
Moebius Syndrome
Abnormality of the sense of smell, Blepharitis ORPHA:570
Charge Syndrome
Micropenis, Renal hypoplasia, Horseshoe kidney, Choanal atresia, Hydronephrosis, Anosmia OMIM:214800
Yao Syndrome
Nephrolithiasis, Inflammatory abnormality of the skin, Skin rash, Keratoconjunctivitis sicca, Art... OMIM:617321
Monosomy 22
Wide nose, Seborrheic dermatitis, Prominent nasolabial fold, Micropenis ORPHA:96123
Trichothiodystrophy
Eczema, Conjunctivitis, Keratoconjunctivitis sicca, Congenital exfoliative erythroderma ORPHA:33364
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Micropenis, Depressed nasal bridge, Hypsarrhythmia, Seborrheic dermatitis, Anteverted nares, Vesi... OMIM:300868
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Eczema, Enuresis, Convex nasal ridge, Seborrheic dermatitis ORPHA:369950
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Micropenis, Eczema, Choanal stenosis, Superficial dermal perivascular inflammatory infiltrate, Pr... ORPHA:83617
22Q11.2 Deletion Syndrome
Bulbous nose, Hypospadias, Multiple renal cysts, Chronic otitis media, Arthritis, Acne, Polycysti... ORPHA:567
Hereditary Late-Onset Parkinson Disease
Hyposmia, Spastic/hyperactive bladder ORPHA:411602
Occipital Horn Syndrome
Abnormality of the sense of smell, Bladder diverticulum, Hepatitis, Esophagitis ORPHA:198
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Hyposmia, Micropenis, Hydronephrosis, Pelvic kidney, Vesicoureteral reflux OMIM:618653
Leopard Syndrome 1
Depressed nasal ridge, Hyposmia, Unilateral renal agenesis, Hypospadias, Micropenis OMIM:151100
Generalized Epilepsy With Febrile Seizures-Plus
Status epilepticus, Atonic seizure, Focal impaired awareness seizure, Generalized myoclonic seizu... ORPHA:36387
Thrombocytopenia-Absent Radius Syndrome
Ureteral duplication, Horseshoe kidney, Seborrheic dermatitis, Anteverted nares, Vesicoureteral r... OMIM:274000
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Thyroiditis, Nephrotic syndrome, Gastritis, Eczematoid dermatitis, Colitis, Osteomyelitis, Inflam... ORPHA:37042
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Aspiration pneumonia, Seborrheic dermatitis OMIM:301072
Meningioma
Abnormality of the sense of smell, Urinary incontinence ORPHA:2495
Hemihyperplasia-Multiple Lipomatosis Syndrome
Seborrheic dermatitis, Enlarged kidney ORPHA:276280
Igg4-Related Kidney Disease
Abnormal ureter morphology, Pancreatitis, Urethritis, Lymphadenitis, Ureteral obstruction, Hematu... ORPHA:449395
Malakoplakia
Dysuria, Inflammatory abnormality of the skin, Orchitis, Skin rash, Urinary urgency, Hematuria, U... ORPHA:556
Digeorge Syndrome
Recurrent otitis media, Unilateral renal agenesis, Recurrent sinusitis, Renal insufficiency, Hydr... OMIM:188400
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Allodynia OMIM:603041
Dravet Syndrome
Atypical absence seizure, Focal hemiclonic seizure, Focal impaired awareness seizure, Generalized... ORPHA:33069
Progressive Supranuclear Palsy
Abnormal synaptic transmission ORPHA:683
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

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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