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Gene: Noxo1 MGI:1919143

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
NADPH oxidase organizer 1
Synonyms:
2310034C04Rik

Order Alleles

IMPC Data Collections

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

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.

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 Noxo1 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Noxo1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Primary Dystonia, Dyt13 Type
Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Action tremor, Craniofaci... ORPHA:98807
Chorea, Childhood-Onset, With Psychomotor Retardation
Chorea, Abnormal head movements OMIM:616939
Guanidinoacetate Methyltransferase Deficiency
Self-injurious behavior, Abnormal head movements, Chorea, Aggressive behavior, Hyperactivity, Ata... ORPHA:382
Benign Paroxysmal Torticollis Of Infancy
Vertigo, Abnormal head movements, Torticollis, Ataxia ORPHA:71518
Autosomal Dominant Spastic Ataxia Type 1
Impaired vibration sensation in the lower limbs, Limb ataxia, Tremor, Spastic ataxia, Jerky head ... ORPHA:251282
Intellectual Developmental Disorder, Autosomal Recessive 58
Self-injurious behavior, Aggressive behavior, Pica, Motor stereotypy, Choreoathetosis OMIM:617270
Asperger Syndrome, Susceptibility To, 1
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:608631
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Truncal ataxia, Motor stereotypy, Inflexible adherence to routines OMIM:608636
Autism, Susceptibility To, X-Linked 3
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:300496
Autism, Susceptibility To, X-Linked 1
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:300425
Episodic Ataxia Type 4
Vertigo, Abnormal head movements, Ataxia ORPHA:79136
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:617787
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Bruxism, Chorea, Inappropriate laughter, Aggressive behavior, Ataxia, Dystonia, Motor stereotypy OMIM:619150
Autism, Susceptibility To, 8
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:607373
Autism
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:209850
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Attention deficit hyperactivity disorder, Motor stereotypy, Ataxia OMIM:618709
Hyperprolinemia, Type I
Aggressive behavior, Motor stereotypy, Hyperactivity, Ataxia OMIM:239500
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Hand tremor, Recurrent hand flapping, Gait ataxia, Dysphagia, Motor stereotypy OMIM:617862
Smith-Magenis syndrome
Motor stereotypy, Hyperactivity, Self-mutilation DECIPHER:8
N-Acetylaspartate Deficiency
Truncal ataxia, Motor stereotypy, Self-mutilation OMIM:614063
Chromosome 3Q29 Deletion Syndrome
Low-set ears, Gait ataxia, Aggressive behavior, Posteriorly rotated ears, Hyperactivity, Motor st... OMIM:609425
Fraxe Intellectual Disability
Prominent ear helix, Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive b... ORPHA:100973
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy, Hyperactivity OMIM:300271
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Abnormal head movements, Limb ataxia, Progressive gait ataxia, Truncal ataxia, Progressive cerebe... ORPHA:247815
Pyruvate Dehydrogenase E2 Deficiency
Generalized dystonia, Paroxysmal dystonia, Jerky head movements, Ataxia, Dystonia, Choreoathetosis OMIM:245348
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Aggressive behavior, Motor stereotypy, Agitation OMIM:617171
Fragile X Syndrome
Abnormal head movements, Recurrent hand flapping, Hyperactivity, Self-biting, Macrotia OMIM:300624
Progressive Supranuclear Palsy-Corticobasal Syndrome
Somatic sensory dysfunction, Tremor, Jerky head movements, Focal dystonia, Dysphagia ORPHA:240103
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Self-injurious behavior, Chorea, Gait ataxia, Stereotypical hand wringing, Compulsive behaviors, ... OMIM:618917
Intellectual Developmental Disorder With Autism And Speech Delay
Motor stereotypy OMIM:606053
Huntington Disease-Like 1
Abnormal head movements, Chorea, Gait ataxia, Dysmetria, Jerky head movements, Restlessness ORPHA:157941
Huntington Disease-Like 3
Dystonia, Progressive gait ataxia, Chorea, Abnormal head movements ORPHA:157946
Autism, Susceptibility To, X-Linked 2
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:300495
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Aggressive behavior, Motor stereotypy, Hyperactivity, Tremor OMIM:619470
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Self-injurious behavior, Dystonia, Motor stereotypy OMIM:617820
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Attention deficit hyperactivity disorder, Spastic ataxia, Motor stereotypy OMIM:618906
Baker-Gordon Syndrome
Self-injurious behavior, Ataxia, Dystonia, Motor stereotypy, Choreoathetosis OMIM:618218
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Low-set ears, Large fleshy ears, Gait ataxia, Tremor, Impaired tactile sensation, Ataxia, Overfol... OMIM:619092
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Low-set ears, Self-injurious behavior, Bruxism, Tremor, Paroxysmal bursts of laughter, Hyperactiv... OMIM:618718
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Self-injurious behavior, Inflexible adherence to routines, Aggressive behavior, Attention deficit... OMIM:613670
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Chorea, Attention deficit hyperactivity disorder, Motor tics, Ataxia, Dystonia, M... OMIM:619725
Developmental And Epileptic Encephalopathy 107
Motor stereotypy OMIM:620033
Intellectual Developmental Disorder, Autosomal Recessive 39
Aggressive behavior, Hyperactivity, Anteverted ears, Motor stereotypy, Macrotia OMIM:615541
Intellectual Developmental Disorder, Autosomal Dominant 7
Inappropriate laughter, Stereotypical hand wringing, Hyperactivity, Ataxia, Thickened helices, Mo... OMIM:614104
Developmental And Epileptic Encephalopathy 58
Motor stereotypy OMIM:617830
Pontocerebellar Hypoplasia, Type 11
Self-injurious behavior, Limb ataxia, Attention deficit hyperactivity disorder, Dysphagia, Ataxia... OMIM:617695
Ocular Motor Apraxia
Jerky head movements OMIM:257550
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Inappropriate behavior, Disinhibition, Aggressive behavior, Dystonia, Restlessness, Motor stereotypy OMIM:600795
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Self-injurious behavior, Motor stereotypy OMIM:615282
Foxg1 Syndrome
Bruxism, Stereotypical hand wringing, Motor stereotypy, Dystonia, Paroxysmal bursts of laughter, ... ORPHA:561854
Christianson Syndrome
Inappropriate laughter, Gait ataxia, Dysphagia, Truncal ataxia, Dystonia, Motor stereotypy, Macrotia ORPHA:85278
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:620065
Developmental And Epileptic Encephalopathy 6B
Chorea, Ataxia, Dystonia, Motor stereotypy, Choreoathetosis OMIM:619317
Pick Disease Of Brain
Polyphagia, Inappropriate laughter, Motor stereotypy, Disinhibition OMIM:172700
Lopes-Maciel-Rodan Syndrome
Bruxism, Tremor, Dysphagia, Dystonia, Motor stereotypy, Agitation OMIM:617435
Developmental And Epileptic Encephalopathy 30
Motor stereotypy OMIM:616341
Xq28 (MECP2) duplication
Motor stereotypy, Gait ataxia, Dysphagia, Macrotia DECIPHER:45
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, Inappropriate behavior, Disinhibition, Aggressive behavior, Collectionism, ... ORPHA:275864
Smith-Magenis Syndrome
Pain insensitivity, Abnormality of the outer ear, Head-banging, Hearing impairment, Impaired pain... OMIM:182290
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Low-set ears, Bruxism, Tremor, Sensorineural hearing impairment, Protruding ear, Aggressive behav... OMIM:618342
2Q23.1 Microdeletion Syndrome
Self-injurious behavior, Polyphagia, Paroxysmal bursts of laughter, Hyperactivity, Ataxia, Motor ... ORPHA:228402
Intellectual Developmental Disorder, Autosomal Dominant 45
Chorea, Recurrent hand flapping, Attention deficit hyperactivity disorder, Hyperactivity, Motor s... OMIM:617600
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Pain insensitivity, Obsessive-compulsive trait, Aggressive behavior, Attention deficit hyperactiv... OMIM:618825
Epilepsy With Eyelid Myoclonia
Abnormal head movements ORPHA:139431
Chromosome 2Q37 Deletion Syndrome
Pain insensitivity, Self-injurious behavior, Stereotypical hand wringing, Sensorineural hearing i... OMIM:600430
Developmental And Epileptic Encephalopathy 64
Self-injurious behavior, Bruxism, Chorea, Paroxysmal dystonia, Dystonia, Motor stereotypy, Macrotia OMIM:618004
Brunet-Wagner Neurodevelopmental Syndrome
Self-injurious behavior, Motor stereotypy OMIM:619690
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Hearing impairment, Gait ataxia, Recurrent hand flapping, Opisthotonus, Attention deficit hyperac... OMIM:619580
Obesity, Hyperphagia, And Developmental Delay
Polyphagia, Motor stereotypy OMIM:613886
Autism, Susceptibility To, 3
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines OMIM:608049
Autism Spectrum Disorder Due To Auts2 Deficiency
Low-set ears, Attention deficit hyperactivity disorder, Repetitive compulsive behavior, Hyperacti... ORPHA:352490
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Motor stereotypy, Dysphagia, Disinhibition OMIM:612069
Pitt-Hopkins-Like Syndrome 1
Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity, Ataxia, Motor stere... OMIM:610042
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Low-set ears, Aggressive behavior, Posteriorly rotated ears, Hyperactivity, Ataxia, Compulsive be... OMIM:618430
Childhood Absence Epilepsy
Punding, Attention deficit hyperactivity disorder, Jerky head movements ORPHA:64280
Lamb-Shaffer Syndrome
Abnormal temper tantrums, Motor stereotypy, Hyperactivity, Ataxia ORPHA:530983
Ogden Syndrome
Low-set ears, Abnormal head movements, Macrotia, Torticollis ORPHA:276432
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity, Motor stereotypy, M... OMIM:620292
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Motor stereotypy OMIM:617393
Developmental Delay, Language Impairment, And Ocular Abnormalities
Frequent temper tantrums, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperact... OMIM:620141
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Low-set ears, Pain insensitivity, Bruxism, Chorea, Repetitive compulsive behavior, Dysphagia, Ata... OMIM:300260
Short Stature, Developmental Delay, And Congenital Heart Defects
Self-injurious behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Compulsive b... OMIM:617044
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Gait ataxia, Dystonia, Prominent antihelix, Motor stereotypy OMIM:617807
Severe Intellectual Disability And Progressive Spastic Paraplegia
Dystonia, Motor stereotypy ORPHA:280763
Ritscher-Schinzel Syndrome 4
Chorea, Impulsivity, Aggressive behavior, Dysphagia, Ataxia, Athetosis, Motor stereotypy, Macrotia OMIM:619435
Shukla-Vernon Syndrome
Aggressive behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Impulsivity OMIM:301029
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Self-injurious behavior, Recurrent hand flapping, Aggressive behavior, Attention deficit hyperact... OMIM:300986
Intellectual Developmental Disorder, Autosomal Dominant 38
Low-set ears, Self-injurious behavior, Bruxism, Hair-pulling, Aggressive behavior, Ataxia, Motor ... OMIM:616393
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Pain insensitivity, Self-injurious behavior, Tremor, Aggressive behavior, Attention deficit hyper... OMIM:617061
Coffin-Siris Syndrome 6
Low-set ears, Conductive hearing impairment, Motor stereotypy, Attention deficit hyperactivity di... OMIM:617808
Rett Syndrome, Congenital Variant
Bruxism, Chorea, Protruding ear, Tongue thrusting, Dystonia, Athetosis, Motor stereotypy OMIM:613454
48,Xxyy Syndrome
Tremor, Attention deficit hyperactivity disorder, Ataxia, Motor stereotypy, Chronic otitis media ORPHA:10
Intellectual Developmental Disorder, X-Linked 98
Bulimia, Bruxism, Stereotypical body rocking, Recurrent hand flapping, Stereotypical hand wringin... OMIM:300912
Bilateral Generalized Polymicrogyria
Self-injurious behavior, Oculogyric crisis, Oral-pharyngeal dysphagia, Dystonia, Motor stereotypy ORPHA:208447
Sandifer Syndrome
Abnormal head movements, Torticollis ORPHA:71272
4Q21 Microdeletion Syndrome
Low-set ears, Self-injurious behavior, Hearing impairment, Tremor, Motor stereotypy ORPHA:238750
Coffin-Siris Syndrome 7
Low-set ears, Hearing impairment, Recurrent otitis media, Motor stereotypy, Hyperactivity, Compul... OMIM:618027
Intellectual Developmental Disorder, Autosomal Recessive 41
Self-injurious behavior, Motor stereotypy OMIM:615637
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Tremor, Motor stereotypy, Macrotia, Self-mutilation ORPHA:457240
Radio-Tartaglia Syndrome
Low-set ears, Conductive hearing impairment, Hearing impairment, Large earlobe, Tremor, Aggressiv... OMIM:619312
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Low-set ears, Impaired pain sensation, Gait ataxia, Overfriendliness, Motor stereotypy OMIM:616579
New-Onset Refractory Status Epilepticus
Abnormal head movements ORPHA:363558
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Dysmetria, Aggressive behavior, Attention deficit hyperactivity disorder, Truncal ataxia, Motor s... OMIM:619121
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Motor stereotypy, Agitation, Ataxia ORPHA:927
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Head tremor, Motor stereotypy, Ataxia OMIM:619428
Alazami Syndrome
Low-set ears, Abnormal eating behavior, Self-mutilation, Stereotypical hand wringing, Motor stere... ORPHA:319671
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Abnormal temper tantrums, Recurrent otitis media, Recurrent hand flappin... ORPHA:449291
Inverted Duplicated Chromosome 15 Syndrome
Low-set, posteriorly rotated ears, Aggressive behavior, Hyperactivity, Self-biting, Motor stereotypy ORPHA:3306
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Gait ataxia, Self-mutilation, Hyperactivity, Motor stereotypy, Macrotia OMIM:300486
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Large earlobe, Motor stereotypy, Prominent ear helix ORPHA:411986
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Motor stereotypy, Macrotia OMIM:618504
Dentici-Novelli Neurodevelopmental Syndrome
Motor stereotypy, Hearing impairment, Macrotia OMIM:619877
Developmental And Speech Delay Due To Sox5 Deficiency
Self-injurious behavior, Aggressive behavior, Attention deficit hyperactivity disorder, Motor ste... ORPHA:313892
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Aggressive behavior, Motor stereotypy, Hyperactivity, Macrotia ORPHA:391307
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Low-set ears, Motor stereotypy OMIM:613443
Potocki-Lupski Syndrome
Motor stereotypy, Hearing impairment, Oral-pharyngeal dysphagia, Hyperactivity OMIM:610883
Cri-Du-Chat Syndrome
Low-set ears, Hearing impairment, Stenosis of the external auditory canal, Oppositional defiant d... OMIM:123450
Late Infantile Neuronal Ceroid Lipofuscinosis
Obsessive-compulsive trait, Aggressive behavior, Hyperactivity, Ataxia, Motor stereotypy ORPHA:168491
Intellectual Developmental Disorder, Autosomal Dominant 48
Low-set ears, Recurrent otitis media, Sensorineural hearing impairment, Hyperactivity, Motor ster... OMIM:617751
Proximal 16P11.2 Microdeletion Syndrome
Conductive hearing impairment, Sensorineural hearing impairment, Attention deficit hyperactivity ... ORPHA:261197
Neurodevelopmental Disorder With Language Delay And Variable Cognitive Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:620502
X-Linked Intellectual Disability, Cantagrel Type
Motor stereotypy ORPHA:85277
Intellectual Developmental Disorder, Autosomal Dominant 52
Low-set ears, Asymmetry of the ears, Obsessive-compulsive trait, Sensorineural hearing impairment... OMIM:617796
Galloway-Mowat Syndrome 6
Paroxysmal bursts of laughter, Motor stereotypy OMIM:618347
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Self-injurious behavior, Cupped ear, Aggressive behavior, Motor stereotypy, Impulsivity OMIM:618914
Joubert Syndrome 6
Motor stereotypy, Ataxia OMIM:610688
Intellectual Developmental Disorder, Autosomal Dominant 34
Bruxism, Motor stereotypy, Hearing impairment OMIM:616351
Chromosome 15Q11.2 Deletion Syndrome
Attention deficit hyperactivity disorder, Ataxia, Compulsive behaviors, Motor stereotypy, Macrotia OMIM:615656
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Abnormal earlobe morphology, Recurrent otitis media, Congenital sensorineural hearing impairment,... ORPHA:500159
Chromosome 5P13 Duplication Syndrome
Low-set ears, Self-injurious behavior, Posteriorly rotated ears, Compulsive behaviors, Motor ster... OMIM:613174
3P25.3 Microdeletion Syndrome
Abnormality of the outer ear, Sensorineural hearing impairment, Attention deficit hyperactivity d... ORPHA:435638
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies
Self-injurious behavior, Crumpled ear, Cupped ear, Hearing impairment, Tremor, Aggressive behavio... OMIM:620494
Smith-Magenis Syndrome
Self-injurious behavior, Conductive hearing impairment, Impaired pain sensation, Attention defici... ORPHA:819
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Gait ataxia, Tremor, Self-mutilation, Aggressive behavior, Attention deficit hyperactivity disord... ORPHA:476126
22Q11.2 Duplication Syndrome
Hearing impairment, Anterior creases of earlobe, Attention deficit hyperactivity disorder, Compul... ORPHA:1727
Macrocephaly-Developmental Delay Syndrome
Self-injurious behavior, Motor stereotypy, Abnormal speech discrimination ORPHA:397612
Megalocornea-Intellectual Disability Syndrome
Protruding ear, Motor stereotypy, Ataxia, Sensorineural hearing impairment ORPHA:2479
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Low-set ears, Motor stereotypy, Bilateral conductive hearing impairment, Dysphagia OMIM:617802
Blepharophimosis-Impaired Intellectual Development Syndrome
Low-set ears, Overfriendliness, Attention deficit hyperactivity disorder, Posteriorly rotated ear... OMIM:619293
5Q14.3 Microdeletion Syndrome
Motor stereotypy ORPHA:228384
Snijders Blok-Campeau Syndrome
Low-set ears, Attention deficit hyperactivity disorder, Motor stereotypy OMIM:618205
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Attention deficit hyperactivity disorder, Motor stereotypy, Paroxysmal dystonia ORPHA:98784
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Aggressive behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Hyperactivity OMIM:620242
Developmental And Epileptic Encephalopathy 66
Motor stereotypy OMIM:618067
Hijazi-Reis Syndrome
Motor stereotypy OMIM:301094
Phelan-Mcdermid Syndrome
Impaired pain sensation, Hearing impairment, Bruxism, Protruding ear, Aggressive behavior, Tongue... OMIM:606232
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Low-set ears, Abnormal temper tantrums, Aggressive behavior, Ataxia, Motor stereotypy ORPHA:457279
Juvenile Neuronal Ceroid Lipofuscinosis
Motor stereotypy, Dysphagia ORPHA:79264
Houge-Janssens Syndrome 3
Self-injurious behavior, Attention deficit hyperactivity disorder, Motor stereotypy OMIM:618354
Rett Syndrome
Bruxism, Stereotypical hand wringing, Dystonia, Motor stereotypy, Agitation ORPHA:778
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Chorea, Self-mutilation, Repetitive compulsive behavior, Self-biting, Ataxia, Dystonia, Motor ste... ORPHA:522077
Childhood Disintegrative Disorder
Motor stereotypy ORPHA:168782
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Low-set ears, Head-banging, Frequent temper tantrums, Attention deficit hyperactivity disorder, M... OMIM:619103
Den Hoed-De Boer-Voisin Syndrome
Tremor, Stereotypical hand wringing, Posteriorly rotated ears, Dysphagia, Ataxia, Motor stereotyp... OMIM:619229
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Low-set ears, Sensorineural hearing impairment, Spastic ataxia, Torticollis, Bilateral sensorineu... ORPHA:300570
Hydroxykynureninuria
Congenital sensorineural hearing impairment, Motor stereotypy ORPHA:79155
White-Sutton Syndrome
Low-set ears, Abnormality of the outer ear, Self-injurious behavior, Overfriendliness, Sensorineu... OMIM:616364
Niemann-Pick Disease, Type C2
Motor stereotypy, Dystonia, Dysphagia, Ataxia OMIM:607625
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Dysphagia, Ataxia, Dystonia, Motor stereotypy, Macrotia ORPHA:496641
Rauch-Steindl Syndrome
Prominent crus of helix, Protruding ear, Attached earlobe, Aggressive behavior, Hyperactivity, Mo... OMIM:619695
Cerebral Creatine Deficiency Syndrome 1
Aggressive behavior, Attention deficit hyperactivity disorder, Underfolded superior helices, Dyst... OMIM:300352
Foxg1 Syndrome Due To 14Q12 Microdeletion
Protruding ear, Motor stereotypy, Abnormal antihelix morphology ORPHA:261144
Congenital Disorder Of Glycosylation, Type Iia
Low-set ears, Self-mutilation, Sensorineural hearing impairment, Stereotypical hand wringing, Agg... OMIM:212066
Transketolase Deficiency
Self-injurious behavior, Hearing impairment, Attention deficit hyperactivity disorder, Compulsive... ORPHA:488618
Kleefstra Syndrome 1
Hearing impairment, Aggressive behavior, Compulsive behaviors, Motor stereotypy, Abnormal pinna m... OMIM:610253
Hypotonia, Ataxia, And Delayed Development Syndrome
Low-set ears, Pain insensitivity, Gait ataxia, Dysmetria, Truncal ataxia, Motor stereotypy, Dysph... OMIM:617330
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Motor stereotypy, Dysphagia ORPHA:572013
Pitt-Hopkins Syndrome
Self-injurious behavior, Cupped ear, Gait ataxia, Thickened helices, Motor stereotypy OMIM:610954
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Motor stereotypy ORPHA:529965
7Q11.23 Microduplication Syndrome
Self-injurious behavior, Hearing impairment, Abnormal earlobe morphology, Low-set, posteriorly ro... ORPHA:96121
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Motor stereotypy, Inappropriate laughter, Prominent antihelix, Macrotia OMIM:615802
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Self-injurious behavior, Motor stereotypy, Limb dystonia, Sensorineural hearing impairment ORPHA:457351
2Q37 Microdeletion Syndrome
Compulsive behaviors, Motor stereotypy, Attention deficit hyperactivity disorder, Conductive hear... ORPHA:1001
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Hearing impairment, Torticollis, Ataxia, Bilateral sensorineural hearing impairment, Tics, Motor ... OMIM:619475
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:620073
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Low-set ears, Hearing impairment, Jerky head movements ORPHA:369837
White-Sutton Syndrome
Self-injurious behavior, Abnormality of the outer ear, Sensorineural hearing impairment, Motor st... ORPHA:468678
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Low-set ears, Self-injurious behavior, Head-banging, Recurrent otitis media, Frequent temper tant... OMIM:619575
Pilarowski-Bjornsson Syndrome
Motor stereotypy OMIM:617682
Kleefstra Syndrome
Self-injurious behavior, Hearing impairment, Self-mutilation, Aggressive behavior, Thickened heli... ORPHA:261494
Cystinosis
Polydipsia, Motor stereotypy ORPHA:213
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Low-set ears, Hand tremor, Short ear, Gait ataxia, Dysmetria, Protruding ear, Motor stereotypy, A... OMIM:614756
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Attention deficit hyperactivity disorder, Motor stereotypy, Impaired pain sensation, Self-mutilation OMIM:619005
Bainbridge-Ropers Syndrome
Low-set ears, Self-injurious behavior, Recurrent hand flapping, Motor stereotypy, Posteriorly rot... OMIM:615485
Developmental And Epileptic Encephalopathy 100
Chorea, Gait ataxia, Motor stereotypy, Dysphagia, Choreoathetosis OMIM:619777
Nmda Receptor Encephalitis
Oculogyric crisis, Chorea, Opisthotonus, Dystonia, Motor stereotypy, Choreoathetosis, Agitation, ... ORPHA:217253
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Low-set ears, Self-injurious behavior, Frequent temper tantrums, Sensorineural hearing impairment... OMIM:619512
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Pain insensitivity, Self-injurious behavior, Fixated interests, Hair-pulling, Protruding ear, Pol... OMIM:620330
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Low-set ears, Hair-pulling, Protruding ear, Dysphagia, Hyperactivity, Motor stereotypy ORPHA:447997
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Low-set ears, Sensorineural hearing impairment, Posteriorly rotated ears, Motor stereotypy, Microtia OMIM:301040
Prader-Willi Syndrome Due To Translocation
Abnormal temper tantrums, Head-banging, Skin-picking, Attention deficit hyperactivity disorder, C... ORPHA:177907
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Recurrent otitis media, Stereotypical body rocking, Gait ataxia, Abnormal Eustachian tube morphol... ORPHA:513456
Wiedemann-Steiner Syndrome
Low-set ears, Aggressive behavior, Dysphagia, Hyperactivity, Motor stereotypy ORPHA:319182
Helsmoortel-Van Der Aa Syndrome
Low-set ears, Cupped ear, Bruxism, Polyphagia, Posteriorly rotated ears, Attention deficit hypera... OMIM:615873
Mucopolysaccharidosis Type 2
Abnormal temper tantrums, Otosclerosis, Conductive hearing impairment, Oppositional defiant disor... ORPHA:580
Van Esch-O'Driscoll Syndrome
Protruding ear, Attention deficit hyperactivity disorder, Motor stereotypy, Impulsivity, Microtia OMIM:301030
Arboleda-Tham Syndrome
Low-set ears, Small earlobe, Prominent antihelix, Recurrent otitis media, Underdeveloped tragus, ... OMIM:616268
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Opisthotonus, Motor stereotypy ORPHA:508533
Kinsship Syndrome
Low-set ears, Bruxism, Motor stereotypy OMIM:619297
Developmental And Epileptic Encephalopathy 2
Motor stereotypy OMIM:300672
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Recurrent otitis media, Motor stereotypy, Posteriorly rotated ears, Aggressive behavior OMIM:301066
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Self-injurious behavior, Thin ear helix, Low-set, posteriorly rotated ears, Bilateral sensorineur... ORPHA:468631
Dyrk1A-Related Intellectual Disability Syndrome
Protruding ear, Motor stereotypy, Hyperactivity, Macrotia ORPHA:464306
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Protruding ear, Attention deficit hyperactivity disorder, Motor stereotypy ORPHA:464311
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Low-set ears, Overfolded helix, Motor stereotypy OMIM:618653
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Low-set ears, Cupped ear, Hearing impairment, Protruding ear, Motor stereotypy, Hyperactivity, Po... OMIM:309590
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Self-injurious behavior, Conductive hearing impairment, Abnormal fear-induced behavior, Otitis me... ORPHA:353281
Ogden Syndrome
Low-set ears, Recurrent otitis media, Protruding ear, Dysphagia, Torticollis, Motor stereotypy, M... OMIM:300855
Oculocerebrorenal Syndrome Of Lowe
Self-injurious behavior, Low-set, posteriorly rotated ears, Protruding ear, Attention deficit hyp... ORPHA:534
Primrose Syndrome
Self-injurious behavior, Restlessness, Hearing impairment, Aggressive behavior, Attention deficit... OMIM:259050
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Motor stereotypy, Hearing impairment ORPHA:508498
Coffin-Siris Syndrome 12
Low-set ears, Prominent antihelix, Large earlobe, Sensorineural hearing impairment, Protruding ea... OMIM:619325
1P36 Deletion Syndrome
Self-injurious behavior, Conductive hearing impairment, Low-set, posteriorly rotated ears, Sensor... ORPHA:1606
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Low-set ears, Self-injurious behavior, Tremor, Sensorineural hearing impairment, Protruding ear, ... OMIM:612474
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Low-set ears, Motor stereotypy, Attention deficit hyperactivity disorder, Dysphagia, Exaggerated ... OMIM:619522
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Low-set ears, Self-injurious behavior, Conductive hearing impairment, Abnormal fear-induced behav... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Low-set ears, Self-injurious behavior, Conductive hearing impairment, Abnormal fear-induced behav... ORPHA:353277
Norrie Disease
Self-injurious behavior, Abnormal helix morphology, Sensorineural hearing impairment, Protruding ... ORPHA:649
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Overfolded helix, Posteriorly rotated ears, Motor stereotypy OMIM:301044
Wolf-Hirschhorn Syndrome
Conductive hearing impairment, Stenosis of the external auditory canal, Sensorineural hearing imp... OMIM:194190
Mowat-Wilson Syndrome
Conductive hearing impairment, Impaired pain sensation, Recurrent otitis media, Bruxism, Sensorin... ORPHA:2152
Lowe Oculocerebrorenal Syndrome
Aggressive behavior, Motor stereotypy OMIM:309000
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Impaired pain sensation, Recurrent otitis media, Bruxism, Sensorineural hearing impairment, Motor... ORPHA:261537
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Motor stereotypy OMIM:616682
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Impaired pain sensation, Recurrent otitis media, Bruxism, Sensorineural hearing impairment, Motor... ORPHA:261552

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 Noxo1

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 Noxo1.

No publications found that use IMPC mice or data for Noxo1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Noxo1tm1(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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