Gene Summary

Name:
transient receptor potential cation channel, subfamily A, member 1
Synonyms:
ANKTM1

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 total body fat amount Trpa1em1(IMPC)J HOM Early adult 9.85×10-05
hyperactivity Trpa1em1(IMPC)J HOM   Early adult 3.26×10-05
abnormal cornea morphology Trpa1em1(IMPC)J HOM   Early adult 8.61×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
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Viewing: all phenotypes

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.

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

Human diseases caused by Trpa1 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 Trpa1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Episodic Pain Syndrome, Familial, 1
OMIM:615040

The table below shows human diseases predicted to be associated to Trpa1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Lithium Transport
Bipolar affective disorder OMIM:152420
Major Affective Disorder 2
Bipolar affective disorder OMIM:309200
Mental Retardation, Autosomal Recessive 25
Anxiety OMIM:614346
Panic Disorder 1
Anxiety OMIM:167870
Major Affective Disorder 1
Depression OMIM:125480
Severe Primary Trimethylaminuria
Negative affectivity, Low self esteem, Aggressive behavior, Depression, Emotional lability, Anxiety ORPHA:468726
Obsessive-Compulsive Disorder
Skin-picking, Anxiety, Depression OMIM:164230
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Intellectual Developmental Disorder, X-Linked 63
Anxiety OMIM:300387
Mental Retardation, Autosomal Recessive 59
Aggressive behavior OMIM:617323
Corneal Dystrophy, Band-Shaped
Band-shaped corneal dystrophy OMIM:217500
Corneal Degeneration, Band-Shaped Spheroid
Corneal degeneration OMIM:217520
Spondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy
Punctate corneal dystrophy OMIM:183850
Mental Retardation, Autosomal Recessive 54
Hyperactivity OMIM:617028
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal dystrophy OMIM:615523
Corneal Dystrophy, Lisch Epithelial
Corneal dystrophy OMIM:300778
Megalocornea
Megalocornea OMIM:249300
Schizophrenia 15
Hyperactivity OMIM:613950
Mental Retardation, Autosomal Dominant 45
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617600
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Corneal Dystrophy, Epithelial Basement Membrane
Map-dot-fingerprint corneal dystrophy, Recurrent corneal erosions, Corneal dystrophy OMIM:121820
Corneal Dystrophy, Subepithelial Mucinous
Corneal dystrophy OMIM:612867
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Mental Retardation, Autosomal Recessive 2
Attention deficit hyperactivity disorder OMIM:607417
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Geniospasm 1
Anxiety OMIM:190100
Corneal Hypesthesia, Familial
Decreased corneal sensation, Recurrent corneal erosions OMIM:122450
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal opacity, Corneal dystrophy OMIM:300779
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Immunodeficiency 8
Hyperactivity OMIM:615401
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder OMIM:618830
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia
Spastic ataxia, Developmental cataract, Corneal dystrophy OMIM:271320
Schnyder Corneal Dystrophy
Crystalline corneal dystrophy, Corneal dystrophy OMIM:121800
Central Cloudy Dystrophy Of Francois
Central corneal dystrophy, Corneal dystrophy OMIM:217600
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Auditory Neuropathy, Autosomal Dominant, 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Cornea Plana 1, Autosomal Dominant
Flat cornea OMIM:121400
Ring Dermoid Of Cornea
Abnormal conjunctiva morphology, Corneal astigmatism, Abnormal cornea morphology, Conjunctival de... OMIM:180550
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Progressive cerebellar ataxia, Corneal opacity, Ataxia, Corneal dystrophy ORPHA:3177
Developmental And Epileptic Encephalopathy 43
Ataxia, Hyperactivity OMIM:617113
Corneal Dystrophy, Fuchs Endothelial, 1
Descemet Membrane Folds, Corneal degeneration, Corneal stromal edema, Corneal guttata, Corneal dy... OMIM:136800
Pupillary Membrane, Persistence Of
Persistent pupillary membrane, Developmental cataract, Megalocornea OMIM:178900
Cataract-Microcornea Syndrome
Iris coloboma, Corneal opacity, Cataract, Microcornea, Corneal dystrophy ORPHA:1377
Spinocerebellar Degeneration And Corneal Dystrophy
Opacification of the corneal stroma, Ataxia, Corneal dystrophy OMIM:271310
Dermoids Of Cornea
Corneal opacity OMIM:304730
Chorea, Benign Hereditary
Anxiety OMIM:118700
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity OMIM:309548
Macular Dystrophy, Corneal
Corneal dystrophy, Punctate opacification of the cornea, Recurrent corneal erosions OMIM:217800
Mental Retardation, Autosomal Dominant 52
Hyperactivity OMIM:617796
Lattice Corneal Dystrophy Type I
Decreased corneal sensation, Recurrent corneal erosions, Central posterior corneal opacity, Subep... ORPHA:98964
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Myoclonus-Dystonia Syndrome
Personality disorder, Panic attack, Anxiety, Depression ORPHA:36899
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Hyperactivity OMIM:616657
Mental Retardation, Autosomal Recessive 37
Hyperactivity OMIM:615493
Corneal Dystrophy, Reis-Bucklers Type
Corneal dystrophy, Opacification of the corneal stroma, Corneal erosion OMIM:608470
Corneal Dystrophy, Posterior Polymorphous, 3
Inguinal hernia, Corneal guttata, Corneal dystrophy OMIM:609141
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Pandas
Claustrophobia, Depression, Agoraphobia, Separation insecurity, Emotional lability, Impulsivity, ... ORPHA:66624
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity ORPHA:356996
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal stromal edema, Keratitis, Corneal guttata, Abnormal Descemet membrane morphology, Corneal... OMIM:613270
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal guttata, Corneal degeneration, Corneal dystrophy OMIM:610158
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Corneal Dystrophy, Thiel-Behnke Type
Corneal scarring, Juvenile epithelial corneal dystrophy, Corneal dystrophy OMIM:602082
Corneal Endothelial Dystrophy
Increased corneal thickness, Congenital corneal dystrophy, Opacification of the corneal stroma, A... OMIM:217700
Sotos Syndrome 3
Hyperactivity OMIM:617169
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Megalocornea
Decreased corneal thickness, Mosaic corneal dystrophy, Deep anterior chamber, Iridodonesis, Catar... OMIM:309300
X-Linked Intellectual Disability, Stocco Dos Santos Type
Cataract, Hyperactivity ORPHA:85288
Abcd Syndrome
Hearing impairment, Abnormal auditory evoked potentials, Aganglionic megacolon OMIM:600501
Limbal Stem Cell Deficiency
Decreased corneal reflex, Blepharospasm, Generalized opacification of the cornea, Opacification o... ORPHA:171673
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Cataract 1, Multiple Types
Developmental cataract, Pulverulent cataract, Nuclear cataract, Posterior subcapsular cataract, M... OMIM:116200
Herpes Simplex Virus Stromal Keratitis
Descemet Membrane Folds, Decreased corneal sensation, Corneal perforation, Deep anterior chamber,... ORPHA:137599
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
8p23.1 deletion syndrome
Congenital diaphragmatic hernia, Hyperactivity DECIPHER:39
Microcephaly, Seizures, And Developmental Delay
Ataxia, Hyperactivity OMIM:613402
Amoebic Keratitis
Decreased corneal sensation, Abnormal corneal epithelium morphology, Corneal perforation, Catarac... ORPHA:67043
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Gait disturbance, Dysmetria, Hyperactivity OMIM:618090
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Insulin-Like Growth Factor I Deficiency
Hyperactivity OMIM:608747
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
Macular Corneal Dystrophy
Decreased corneal sensation, Decreased corneal thickness, Opacification of the corneal stroma, Co... ORPHA:98969
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Hyperlysinemia, Type I
Ectopia lentis, Hyperactivity OMIM:238700
Edict Syndrome
Keratoconus, Developmental cataract, Hypoplasia of the iris, Microcornea, Astigmatism OMIM:614303
Vernal Keratoconjunctivitis
Scarring, Abnormal conjunctiva morphology, Punctate keratitis, Abnormal cornea morphology, Cornea... ORPHA:70476
Corneal Dystrophy, Fuchs Endothelial, 4
Corneal guttata, Corneal dystrophy OMIM:613268
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Cornea Plana 2, Autosomal Recessive
Flat cornea, Decreased corneal thickness, Corneal arcus OMIM:217300
Brittle Cornea Syndrome 2
Keratoconus, Decreased corneal thickness, Gait disturbance, Keratoglobus, Umbilical hernia, Megal... OMIM:614170
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Bilateral Acute Depigmentation Of The Iris
Abnormal iris pigmentation, Iris pigment dispersion, Pigment deposition in the trabecular meshwor... ORPHA:69736
Anterior Segment Dysgenesis 3
Rieger anomaly, Axenfeld anomaly, Posterior embryotoxon, Ectopia pupillae, Peters anomaly, Abnorm... OMIM:601631
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity OMIM:301013
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Abnormal motor evoked pote... ORPHA:320401
Mannosidosis, Beta A, Lysosomal
Tortuosity of conjunctival vessels, Hyperactivity OMIM:248510
Epithelial Recurrent Erosion Dystrophy
Irregular astigmatism, Recurrent corneal erosions, Subepithelial corneal opacities, Corneal scarr... ORPHA:293381
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Sensorineural hearing impairment, EEG abnormality, Facial palsy OMIM:617519
Corneal Dystrophy, Posterior Polymorphous, 1
Uveal ectropion, Corneal opacity, Ectopia pupillae, Iris atrophy, Polymorphous posterior corneal ... OMIM:122000
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
Anterior Segment Dysgenesis 6
Developmental glaucoma, Corneal opacity, Corneal neovascularization, Posterior synechiae of the a... OMIM:617315
X-Linked Endothelial Corneal Dystrophy
Band keratopathy, Corneal opacity, Nuclear cataract, Abnormal corneal endothelium morphology ORPHA:293621
Anterior Segment Dysgenesis 1
Posterior polar cataract, Ocular anterior segment dysgenesis, Peters anomaly, Opacification of th... OMIM:107250
Congenital Hereditary Endothelial Dystrophy Type Ii
Irregular astigmatism, Corneal opacity, Increased corneal thickness, Corneal stromal edema, Abnor... ORPHA:293603
Juvenile Huntington Disease
Dystonia, Gait ataxia, Ataxia, Bradykinesia, Progressive cerebellar ataxia, Hyperactivity, Broad-... ORPHA:248111
Peters Anomaly
Developmental glaucoma, Peters anomaly, Opacification of the corneal stroma, Subcapsular cataract... ORPHA:708
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Ataxia, Hyperactivity OMIM:615924
Congenital Corneal Opacities, Cornea Guttata, And Corectopia
Ectopia pupillae, Corneal opacity OMIM:608484
Autosomal Dominant Keratitis
Aniridia, Cataract, Keratitis, Microcornea, Opacification of the corneal stroma, Hypoplastic iris... ORPHA:2334
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Abnormal auditory evoked potentials, Optic atrophy OMIM:125250
Hyperprolinemia, Type I
Ataxia, Hyperactivity OMIM:239500
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity OMIM:604317
Rutherfurd Syndrome
Opacification of the corneal stroma, Corneal dystrophy OMIM:180900
Phenylketonuria
Cataract, Blue irides, Attention deficit hyperactivity disorder, Hyperactivity OMIM:261600
Charcot-Marie-Tooth Disease, Type 4D
Hearing impairment, Abnormal auditory evoked potentials, Decreased nerve conduction velocity OMIM:601455
Glycine Encephalopathy
Lethargy, Hyperactivity OMIM:605899
Corneal Dystrophy, Posterior Amorphous
Ectopia pupillae, Iris coloboma, Corneal dystrophy OMIM:612868
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Prolonged brainstem... OMIM:601596
Intellectual Developmental Disorder, X-Linked 104
Ataxia, Hyperactivity OMIM:300983
Early-Onset Schizophrenia
Low self esteem, Depression, Abnormal emotion/affect behavior, Impairment in personality function... ORPHA:96369
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy, Hyperactivity OMIM:274270
Neurotrophic Keratopathy
Decreased corneal sensation, Corneal perforation, Corneal scarring, Corneal stromal edema, Cornea... ORPHA:137596
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Iris hypopigmentation, Ataxia, Hyperactivity ORPHA:411515
Complex Regional Pain Syndrome
Allodynia ORPHA:83452
Fraxe Intellectual Disability
Hyperactivity ORPHA:100973
Severe Neurodegenerative Syndrome With Lipodystrophy
Gait ataxia, Reduced intraabdominal adipose tissue, Ataxia, Limb dystonia, Hyperactivity, Reduced... ORPHA:363400
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Vestibular areflexia, Absent brainstem auditory responses, Head titubation ORPHA:3240
Insensitivity To Pain, Congenital, With Anhidrosis
Corneal scarring, Keratitis, Opacification of the corneal stroma, Corneal ulceration, Hyperactivi... OMIM:256800
Mental Retardation, Autosomal Recessive 39
Hyperactivity OMIM:615541
Hyperphosphatasia With Mental Retardation Syndrome 6
Developmental cataract, Flexion contracture, Inguinal hernia, Knee flexion contracture, Hyperacti... OMIM:616809
Mental Retardation, Autosomal Dominant 43
Hyperactivity OMIM:616977
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity OMIM:300434
Autism Spectrum Disorder Due To Auts2 Deficiency
Arthrogryposis multiplex congenita, Joint contracture of the 5th finger, Congenital contracture, ... ORPHA:352490
Mohr-Tranebjaerg Syndrome
Tremor, Absent brainstem auditory responses, Sensorineural hearing impairment, Abnormal cochlea m... ORPHA:52368
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Hyperactivity OMIM:609425
Mental Retardation, Autosomal Recessive 38
Unsteady gait, Blue irides, Hyperactivity OMIM:615516
Xq25 Microduplication Syndrome
Hyperactivity ORPHA:521258
Xq25 Duplication Syndrome
Hyperactivity OMIM:300979
Coffin-Siris Syndrome 8
Hyperactivity OMIM:618362
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Ataxia, Hyperactivity OMIM:612716
Lennox-Gastaut Syndrome
Falls, Hyperactivity ORPHA:2382
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Uveal ectropion, Corneal opacity, Ectopia pupillae, Corneal stromal ... ORPHA:98973
Brittle Cornea Syndrome 1
Keratoconus, Decreased corneal thickness, Atypical scarring of skin, Keratoglobus, Abnormal corne... OMIM:229200
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hyperopic astigmatism, Hyperactivity ORPHA:397973
Generalized Eruptive Keratoacanthoma
Conjunctivitis, Keratoconjunctivitis sicca, Abnormal cornea morphology ORPHA:411777
Optic Atrophy 11
Dysmetria, Ataxia, Hyperactivity OMIM:617302
Chromosome 15Q25 Deletion Syndrome
Inguinal hernia, Congenital diaphragmatic hernia, Attention deficit hyperactivity disorder, Hyper... OMIM:614294
Sclerocornea, Autosomal Dominant
Sclerocornea OMIM:181700
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Temporal op... ORPHA:1215
Acrocraniofacial Dysostosis
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Conductive hearing impairment OMIM:201050
Trigeminal Neuralgia
Allodynia ORPHA:221091
Intellectual Developmental Disorder, X-Linked 30
Hyperactivity OMIM:300558
Gand Syndrome
Hyperactivity OMIM:615074
Guanidinoacetate Methyltransferase Deficiency
Dystonia, Athetosis, Ataxia, Hyperactivity ORPHA:382
Late-Infantile/Juvenile Krabbe Disease
Tremor, Prolonged brainstem auditory evoked potentials, EEG with persistent abnormal rhythmic act... ORPHA:206443
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Anterior Cutaneous Nerve Entrapment Syndrome
Allodynia ORPHA:51890
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Unsteady gait, Broad-based gait, Hyperactivity OMIM:617865
Adult-Onset Autosomal Dominant Leukodystrophy
Tremor, Autonomic bladder dysfunction, Orthostatic hypotension, Head titubation, Action tremor, A... ORPHA:99027
Landau-Kleffner Syndrome
Steppage gait, Gait ataxia, Attention deficit hyperactivity disorder, Hyperactivity ORPHA:98818
Cln5 Disease
Dysdiadochokinesis, Inability to walk, Truncal ataxia, Ataxia, Unsteady gait, Dysmetria, Hyperact... ORPHA:228360
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Hyperactivity OMIM:618504
Mend Syndrome
Cataract, Hyperactivity OMIM:300960
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Broad-based gait, Hyperactivity ORPHA:457260
Mental Retardation, Autosomal Recessive 13
Hyperactivity OMIM:613192
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Hyperactivity OMIM:618718
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Shuffling gait, Hyperactivity ORPHA:3077
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Dystonia, Gait ataxia, Hyperactivity ORPHA:500180
Succinic Semialdehyde Dehydrogenase Deficiency
Ataxia, Hyperactivity OMIM:271980
Clcn4-Related X-Linked Intellectual Disability Syndrome
Progressive cerebellar ataxia, Unsteady gait, Inguinal hernia, Hyperactivity ORPHA:485350
Charcot-Marie-Tooth Disease Type 1F
Head tremor, Absent brainstem auditory responses, Sensorineural hearing impairment, Optic nerve h... ORPHA:101085
Rasmussen Subacute Encephalitis
Inability to walk, Hemidystonia, Attention deficit hyperactivity disorder, Hyperactivity ORPHA:1929
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic disc pallor OMIM:619260
Acrodysostosis 2 With Or Without Hormone Resistance
Blue irides, Hyperactivity OMIM:614613
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hypoplasia of the semicircular canal, Anosmia, Long-segment aganglionic megacolon, Abnormal auton... OMIM:609136
Arthrogryposis, Distal, Type 2A
Hearing impairment, Abnormal auditory evoked potentials OMIM:193700
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Hyperactivity OMIM:615824
Infantile Neuroaxonal Dystrophy
Dystonia, Gait disturbance, Flexion contracture, Ataxia, Unsteady gait, Hyperactivity ORPHA:35069
Gomez-Lopez-Hernandez Syndrome
Opacification of the corneal stroma, Ataxia, Hyperactivity OMIM:601853
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Broad-based gait, Hyperactivity OMIM:300958
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG abnormality ORPHA:206448
Graves Disease, Susceptibility To, 1
Hyperactivity OMIM:275000
Fragile X Syndrome
Hyperactivity OMIM:300624
Myoclonic-Astatic Epilepsy
Unsteady gait, Attention deficit hyperactivity disorder, Ataxia, Hyperactivity ORPHA:1942
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Camptodactyly, Ataxia, Umbilical hernia, Ocular anterior segment dysgenesis, Hyperactivity, Arthr... ORPHA:369891
Late Infantile Neuronal Ceroid Lipofuscinosis
Inability to walk, Gait disturbance, Ataxia, Hyperactivity, Astigmatism ORPHA:168491
Intellectual Developmental Disorder, X-Linked 21
Hyperactivity OMIM:300143
Histidinemia
Hyperactivity ORPHA:2157
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Opisthotonus, Hearing impairment, Decreased nerve... ORPHA:206436
X-Linked Creatine Transporter Deficiency
Dystonia, Athetosis, Ataxia, Hyperactivity ORPHA:52503
Benign Schwannoma
Allodynia ORPHA:252164
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity ORPHA:101039
Intellectual Disability, Birk-Barel Type
Contractures involving the joints of the feet, Congenital finger flexion contractures, Hyperactivity ORPHA:166108
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529799
13Q12.3 Microdeletion Syndrome
Camptodactyly, Congenital diaphragmatic hernia, Hyperactivity ORPHA:412035
Cockayne Syndrome Type 1
Tremor, Macrotia, Hearing impairment, Absent brainstem auditory responses, Abnormality of periphe... ORPHA:90321
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Iris hypopigmentation, Ataxia, Hyperactivity, Gait imbalance, Broad-based gait ORPHA:98794
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity ORPHA:85327
Spastic Paraplegia 29, Autosomal Dominant
Hiatus hernia, Hyperactivity OMIM:609727
Hypomagnesemia, Seizures, And Mental Retardation 2
Hyperactivity OMIM:618314
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Astigmatism, Hyperopic astigmatism, Hyperactivity ORPHA:363686
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hyperactivity OMIM:619239
Angelman Syndrome
Progressive gait ataxia, Blue irides, Broad-based gait, Hyperactivity OMIM:105830
X-Linked Cerebral Adrenoleukodystrophy
Inability to walk, Difficulty walking, Gait disturbance, Ataxia, Dysmetria, Hyperactivity, Hamstr... ORPHA:139396
Mucopolysaccharidosis, Type Iiic
Hernia, Hyperactivity OMIM:252930
Neurodegeneration With Brain Iron Accumulation 2B
Dysdiadochokinesis, Dystonia, Gait ataxia, Bradykinesia, Dysmetria, Hyperactivity OMIM:610217
Glass Syndrome
Camptodactyly, Inguinal hernia, Broad-based gait, Hyperactivity OMIM:612313
Cerebrotendinous Xanthomatosis
Abnormal motor evoked potentials, Resting tremor, Abnormal auditory evoked potentials, Optic neur... ORPHA:909
X-Linked Adrenoleukodystrophy
Gait disturbance, Attention deficit hyperactivity disorder, Hyperactivity ORPHA:43
Bone Marrow Failure Syndrome 3
Enamel hypoplasia, Amelogenesis imperfecta, Hernia, Hyperactivity, Astigmatism OMIM:617052
Angelman Syndrome
Inability to walk, Keratoconus, Iris hypopigmentation, Ataxia, Hyperactivity, Astigmatism, Broad-... ORPHA:72
Oculoectodermal Syndrome
Opacification of the corneal stroma, Microcornea, Hyperactivity, Astigmatism, Limbal dermoid OMIM:600268
Trisomy 10P
Low voltage EEG, Macrotia, EEG with burst suppression, Posteriorly rotated ears, Abnormal auditor... ORPHA:171929
Cockayne Syndrome A
Tremor, Abnormality of the pinna, Abnormal auditory evoked potentials, Sensorineural hearing impa... OMIM:216400
Hyperthyroidism, Nonautoimmune
Hyperactivity OMIM:609152
Cockayne Syndrome B
Tremor, Abnormality of the pinna, Abnormal auditory evoked potentials, Sensorineural hearing impa... OMIM:133540
Pitt-Hopkins-Like Syndrome 1
Ataxia, Hyperactivity OMIM:610042
Mucopolysaccharidosis, Type Iiia
Hyperactivity OMIM:252900
47,Xyy Syndrome
Attention deficit hyperactivity disorder, Hyperactivity ORPHA:8
Mucopolysaccharidosis Type 3
Gait disturbance, Flexion contracture, Corneal opacity, Ataxia, Umbilical hernia, Cataract, Progr... ORPHA:581
Dubowitz Syndrome
Iris coloboma, Hypoplasia of the iris, Megalocornea, Inguinal hernia, Hyperactivity OMIM:223370
Purine Nucleoside Phosphorylase Deficiency
Ataxia, Hyperactivity ORPHA:760
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Astigmatism, Inguinal hernia, Attention deficit hyperactivity disorder, Hyperactivity OMIM:607721
Neurodegeneration With Brain Iron Accumulation 1
Dystonia, Akinesia, Gait disturbance, Blepharospasm, Ataxia, Bradykinesia, Hyperactivity OMIM:234200
Mend Syndrome
Abnormal auditory evoked potentials ORPHA:401973
Familial Gestational Hyperthyroidism
Hyperactivity ORPHA:99819
Hereditary Sensory And Autonomic Neuropathy Type 4
Decreased corneal reflex, Difficulty walking, Atypical scarring of skin, Corneal scarring, Hypera... ORPHA:642
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity ORPHA:424
Cerebellar Ataxia, Nonprogressive, With Mental Retardation
Dysmetria, Unsteady gait, Ataxia, Hyperactivity OMIM:614756
Argininemia
Spastic gait, Hyperactivity OMIM:207800
Episodic Pain Syndrome, Familial, 1
OMIM:615040

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 Trpa1

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 Trpa1.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Enhanced Sensory Coding in Mouse Vibrissal and Visual Cortex through TRPA1. Cell reports (July 2020) Trpa1em1(IMPC)J 32698003

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Trpa1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Trpa1em1(IMPC)J Exon Deletion Mice

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