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

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 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
Chorea, Childhood-Onset, With Psychomotor Retardation
Involuntary movements, Abnormal head movements, Chorea OMIM:616939
Primary Dystonia, Dyt13 Type
Torticollis, Motor stereotypy, Action tremor, Torsion dystonia, Jerky head movements, Craniofacia... ORPHA:98807
Autosomal Dominant Spastic Ataxia Type 1
Hypertonia, Spastic ataxia, Limb ataxia, Impaired vibration sensation in the lower limbs, Jerky h... ORPHA:251282
Benign Paroxysmal Torticollis Of Infancy
Torticollis, Vertigo, Ataxia, Abnormal head movements ORPHA:71518
Episodic Ataxia Type 4
Ataxia, Incoordination, Frequent falls, Abnormal head movements, Vertigo ORPHA:79136
Progressive Supranuclear Palsy-Corticobasal Syndrome
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... ORPHA:240103
Guanidinoacetate Methyltransferase Deficiency
Ataxia, Abnormality of extrapyramidal motor function, Chorea, Athetosis, Progressive extrapyramid... ORPHA:382
Huntington Disease-Like 3
Extrapyramidal muscular rigidity, Extrapyramidal dyskinesia, Abnormality of extrapyramidal motor ... ORPHA:157946
Pyruvate Dehydrogenase E2 Deficiency
Ataxia, Jerky head movements, Choreoathetosis, Oculomotor apraxia, Paroxysmal dystonia OMIM:245348
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Motor stereotypy, Tremor, Ataxia OMIM:617862
Intellectual Developmental Disorder, Autosomal Recessive 58
Motor stereotypy, Spastic diplegia, Choreoathetosis OMIM:617270
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Progressive cerebellar ataxia, Limb ataxia, Abnormal pyramidal sign, Truncal ataxia, Abnormal hea... ORPHA:247815
Huntington Disease-Like 1
Clumsiness, Bradykinesia, Poor fine motor coordination, Dysmetria, Jerky head movements, Simultan... ORPHA:157941
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Motor stereotypy, Ataxia, Poor coordination, Chorea, Paroxysmal dyskinesia, Dystonia OMIM:619150
N-Acetylaspartate Deficiency
Motor stereotypy, Truncal ataxia OMIM:614063
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Motor stereotypy, Ataxia OMIM:618709
Spastic Ataxia 2, Autosomal Recessive
Dysmetria, Babinski sign, Head titubation, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasci... OMIM:611302
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Motor stereotypy OMIM:617787
Asperger Syndrome, X-Linked, Susceptibility To, 2
Motor stereotypy OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Motor stereotypy OMIM:300494
Asperger Syndrome, Susceptibility To, 1
Motor stereotypy OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Motor stereotypy OMIM:608631
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Stereotypical hand wringing, Dystonia, Chorea OMIM:618760
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Large fleshy ears, Hypertonia, Ataxia, Motor stereotypy, Overfolded helix, Myoclonus, Tremor, Gai... OMIM:619092
Baker-Gordon Syndrome
Motor stereotypy, Ataxia, Hyperkinetic movements, Choreoathetosis, Involuntary movements, Dystonia OMIM:618218
Hyperprolinemia, Type I
Motor stereotypy, Ataxia OMIM:239500
Ocular Motor Apraxia
Oculomotor apraxia, Jerky head movements OMIM:257550
Chromosome 3Q29 Deletion Syndrome
Motor stereotypy, Gait ataxia, Macrotia, Low-set ears, Posteriorly rotated ears OMIM:609425
Intellectual Developmental Disorder With Autism And Speech Delay
Motor stereotypy OMIM:606053
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Motor stereotypy, Ataxia, Bradykinesia, Resting tremor, Intention tremor, Myoclonus, Parkinsonism... OMIM:619725
Developmental And Epileptic Encephalopathy 97
Tremor, Stereotypical hand wringing OMIM:619561
Autism, Susceptibility To, X-Linked 3
Motor stereotypy OMIM:300496
Autism, Susceptibility To, 8
Motor stereotypy OMIM:607373
Autism, Susceptibility To, X-Linked 1
Motor stereotypy OMIM:300425
Autism
Motor stereotypy OMIM:209850
Chromosome 15Q11-Q13 Duplication Syndrome
Motor stereotypy OMIM:608636
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy OMIM:300271
Intellectual Developmental Disorder, Autosomal Recessive 73
Recurrent hand flapping, Poor coordination, Gait ataxia, Low-set ears, Posteriorly rotated ears OMIM:619717
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Motor stereotypy, Stereotypical hand wringing, Chorea, Gait ataxia, Spasticity, Dystonia OMIM:618917
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Motor stereotypy, Involuntary movements, Dystonia, Spasticity OMIM:617820
Smith-Magenis syndrome
Motor stereotypy DECIPHER:8
Fraxe Intellectual Disability
Prominent ear helix, Clumsiness, Recurrent hand flapping, Stereotypical body rocking ORPHA:100973
Fragile X Syndrome
Recurrent hand flapping, Abnormal head movements, Macrotia OMIM:300624
Developmental And Epileptic Encephalopathy 58
Motor stereotypy, Spastic diplegia OMIM:617830
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Motor stereotypy, Spasticity OMIM:617393
Autosomal Recessive Non-Syndromic Intellectual Disability
Spasticity, Motor stereotypy, Dystonia, Chorea ORPHA:88616
Developmental And Epileptic Encephalopathy 107
Motor stereotypy OMIM:620033
Developmental And Epileptic Encephalopathy 6B
Motor stereotypy, Ataxia, Myoclonus, Hyperkinetic movements, Chorea, Choreoathetosis, Dystonia OMIM:619317
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Motor stereotypy, Hypertonia, Spastic tetraplegia OMIM:615282
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Hyperkinetic movements, Stereotypical hand wringing, Macrotia ORPHA:397933
Pontocerebellar Hypoplasia, Type 11
Motor stereotypy, Ataxia, Limb ataxia, Poor coordination, Spasticity, Macrotia OMIM:617695
Atypical Rett Syndrome
Hand apraxia, Pill-rolling tremor, Stereotypical hand wringing, Tongue thrusting, Limb myoclonus,... ORPHA:3095
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Spastic tetraparesis, Tremor, Motor stereotypy OMIM:619470
Intellectual Developmental Disorder, X-Linked 109
Recurrent hand flapping, Stereotypical body rocking, Poor coordination OMIM:309548
Foxg1 Syndrome
Motor stereotypy, Myoclonus, Hyperkinetic movements, Stereotypical hand wringing, Choreoathetosis... ORPHA:561854
Syngap1-Related Developmental And Epileptic Encephalopathy
Ataxia, Recurrent hand flapping, Poor coordination, Tremor, Macrotia, Anteverted ears, Abnormalit... ORPHA:544254
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Motor stereotypy, Spastic ataxia OMIM:618906
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Motor stereotypy, Myoclonus, Babinski sign, Rigidity, Dystonia OMIM:600795
Jeavons Syndrome
Limb myoclonus, Abnormal head movements ORPHA:139431
Intellectual Developmental Disorder, Autosomal Dominant 7
Motor stereotypy, Ataxia, Abnormal pinna morphology, Stereotypical hand wringing, Macrotia, Incoo... OMIM:614104
Developmental And Epileptic Encephalopathy 30
Motor stereotypy OMIM:616341
Severe Intellectual Disability And Progressive Spastic Paraplegia
Motor stereotypy, Babinski sign, Spastic dysarthria, Progressive spastic paraplegia, Spasticity, ... ORPHA:280763
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Motor stereotypy, Tremor, Low-set ears, Spasticity OMIM:618718
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Stereotypical hand wringing, Spasticity ORPHA:500545
Christianson Syndrome
Motor stereotypy, Truncal ataxia, Gait ataxia, Macrotia, Dystonia ORPHA:85278
Xq28 (MECP2) duplication
Progressive spasticity, Gait ataxia, Motor stereotypy, Macrotia DECIPHER:45
Intellectual Developmental Disorder, Autosomal Recessive 39
Motor stereotypy, Anteverted ears, Macrotia OMIM:615541
Cdkl5-Deficiency Disorder
Impaired pain sensation, Stereotypical hand wringing ORPHA:505652
Intellectual Developmental Disorder, Autosomal Dominant 45
Motor stereotypy, Recurrent hand flapping, Myoclonus, Cerebral palsy, Chorea OMIM:617600
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Motor stereotypy, Speech apraxia OMIM:613670
Autism Spectrum Disorder Due To Auts2 Deficiency
Motor stereotypy, Hypertonia, Cerebral palsy, Spasticity, Repetitive compulsive behavior, Low-set... ORPHA:352490
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Motor stereotypy, Babinski sign, Spasticity OMIM:612069
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Motor stereotypy, Abnormal pinna morphology, Gait ataxia, Spasticity, Dystonia OMIM:617807
Ogden Syndrome
Torticollis, Hypertonia, Abnormal head movements, Macrotia, Low-set ears ORPHA:276432
Autism, Susceptibility To, X-Linked 2
Motor stereotypy OMIM:300495
Brunet-Wagner Neurodevelopmental Syndrome
Motor stereotypy OMIM:619690
Obesity, Hyperphagia, And Developmental Delay
Motor stereotypy OMIM:613886
Snijders Blok-Campeau Syndrome
Motor stereotypy, Low-set ears, Speech apraxia OMIM:618205
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Motor stereotypy, Ataxia, Pain insensitivity, Rigidity, Chorea, Progressive spasticity, Repetitiv... OMIM:300260
Developmental And Epileptic Encephalopathy 26
Stereotypical hand wringing OMIM:616056
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Sensorineural hearing impairment, Motor stereotypy, Protruding ear, Tremor, Low-set ears OMIM:618342
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Blepharospasm, Exaggerated startle response, Oculogyric crisis, Limb hypertonia, Bab... OMIM:608643
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Motor stereotypy, Hyperkinetic movements, Tremor, Macrotia, Upper limb spasticity ORPHA:457240
Childhood Absence Epilepsy
Jerky head movements, Punding, Limb myoclonus ORPHA:64280
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Motor stereotypy, Ataxia, Recurrent hand flapping, Opisthotonus, Limb hypertonia, Tongue thrustin... OMIM:619580
Lamb-Shaffer Syndrome
Motor stereotypy, Ataxia, Upper motor neuron dysfunction ORPHA:530983
Sandifer Syndrome
Torticollis, Abnormal head movements ORPHA:71272
Pitt-Hopkins-Like Syndrome 1
Motor stereotypy, Ataxia, Spasticity OMIM:610042
Behavioral Variant Of Frontotemporal Dementia
Motor stereotypy, Fasciculations, Upper motor neuron dysfunction, Abnormality of extrapyramidal m... ORPHA:275864
Smith-Magenis Syndrome
Motor stereotypy, Hearing impairment, Morphological abnormality of the middle ear, Abnormality of... OMIM:182290
Autosomal Dominant Non-Syndromic Intellectual Disability
Motor stereotypy, Oculogyric crisis, Eyelid myoclonus, Chorea, Spasticity, Dystonia ORPHA:178469
Intellectual Developmental Disorder With Autism And Dysmorphic Facies
Low-set ears, Recurrent hand flapping OMIM:620021
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Motor stereotypy, Pain insensitivity OMIM:618825
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Large earlobe, Prominent ear helix, Myoclonus, Motor stereotypy ORPHA:411986
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities
Recurrent hand flapping, Spasticity OMIM:618859
Dentici-Novelli Neurodevelopmental Syndrome
Motor stereotypy, Hypertonia, Hearing impairment, Macrotia OMIM:619877
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Motor stereotypy, Dysmetria, Babinski sign, Truncal ataxia, Spastic tetraplegia, Scissor gait, Sp... OMIM:619121
Rett Syndrome, Congenital Variant
Motor stereotypy, Protruding ear, Tongue thrusting, Chorea, Athetosis, Spasticity, Apraxia, Dystonia OMIM:613454
Intellectual Developmental Disorder With Autism And Macrocephaly
Clumsiness, Posteriorly rotated ears, Recurrent hand flapping OMIM:615032
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Motor stereotypy, Gait ataxia, Impaired pain sensation, Incoordination, Low-set ears OMIM:616579
Rett Syndrome
Gait apraxia, Truncal ataxia, Stereotypical hand wringing, Gait ataxia, Spasticity, Dystonia OMIM:312750
Bilateral Generalized Polymicrogyria
Motor stereotypy, Oculogyric crisis, Eyelid myoclonus, Spasticity, Spastic tetraplegia, Paroxysma... ORPHA:208447
4Q21 Microdeletion Syndrome
Motor stereotypy, Tremor, Low-set ears, Hearing impairment ORPHA:238750
48,Xxyy Syndrome
Motor stereotypy, Tremor, Ataxia, Chronic otitis media ORPHA:10
Pick Disease Of Brain
Motor stereotypy OMIM:172700
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
Recurrent hand flapping, Macrotia OMIM:617268
2Q23.1 Microdeletion Syndrome
Motor stereotypy, Ataxia ORPHA:228402
New-Onset Refractory Status Epilepticus
Abnormal head movements ORPHA:363558
Leber Congenital Amaurosis 1
Sensorineural hearing impairment, Eye poking OMIM:204000
Coffin-Siris Syndrome 6
Motor stereotypy, Conductive hearing impairment, Tics, Low-set, posteriorly rotated ears OMIM:617808
X-Linked Intellectual Disability, Cantagrel Type
Motor stereotypy, Tetraparesis ORPHA:85277
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Motor stereotypy, Paraplegia, Ataxia ORPHA:927
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Motor stereotypy, Ataxia, Head tremor OMIM:619428
Juvenile Neuronal Ceroid Lipofuscinosis
Motor stereotypy, Clumsiness, Poor fine motor coordination, Parkinsonism, Myoclonic spasms, Poor ... ORPHA:79264
Ritscher-Schinzel Syndrome 4
Motor stereotypy, Ataxia, Chorea, Athetosis, Macrotia OMIM:619435
Proximal 16P11.2 Microdeletion Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Motor stereotypy, Speech apraxia... ORPHA:261197
Joubert Syndrome 6
Motor stereotypy, Oculomotor apraxia, Ataxia OMIM:610688
Intellectual Developmental Disorder, Autosomal Recessive 71
Motor stereotypy, Macrotia OMIM:618504
Late Infantile Neuronal Ceroid Lipofuscinosis
Motor stereotypy, Ataxia, Cortical myoclonus, Myoclonus, Spasticity ORPHA:168491
Radio-Tartaglia Syndrome
Large earlobe, Conductive hearing impairment, Ataxia, Motor stereotypy, Tremor, Hearing impairmen... OMIM:619312
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Motor stereotypy, Gait ataxia, Spasticity, Macrotia OMIM:300486
Developmental And Epileptic Encephalopathy 87
Hypertonia, Recurrent hand flapping OMIM:618916
Leber Congenital Amaurosis 2
Eye poking OMIM:204100
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Motor stereotypy, Hypertonia, Ataxia, Recurrent hand flapping OMIM:300986
Intellectual Developmental Disorder, Autosomal Recessive 41
Motor stereotypy OMIM:615637
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Abnormality of the ear, Oromotor apraxia, Hypoplastic helices, Spasticity, Repetitive compulsive ... ORPHA:391372
Coffin-Siris Syndrome 7
Motor stereotypy, Low-set ears, Recurrent otitis media, Macrotia, Hearing impairment, Posteriorly... OMIM:618027
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Motor stereotypy, Ataxia, Cataplexy, Progressive spasticity, Spasticity, Macrotia, Fasciculations... ORPHA:496641
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Motor stereotypy, Pain insensitivity, Overfolded helix, Tremor, Macrotia OMIM:617061
Marbach-Schaaf Neurodevelopmental Syndrome
Torticollis, Recurrent hand flapping, Hemidystonia, Tremor, Speech apraxia, Recurrent otitis medi... OMIM:619680
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Torticollis, Sensorineural hearing impairment, Motor stereotypy, Spastic ataxia, Spastic diplegia... ORPHA:300570
Intellectual Developmental Disorder, X-Linked 98
Motor stereotypy, Ataxia, Recurrent hand flapping, Stereotypical body rocking, Stereotypical hand... OMIM:300912
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Sensorineural hearing impairment, Motor stereotypy, Congenital sensorineural hearing impairment, ... ORPHA:500159
Intellectual Developmental Disorder, Autosomal Dominant 48
Sensorineural hearing impairment, Low-set ears, Motor stereotypy, Recurrent otitis media OMIM:617751
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Hypertonia, Myoclonus, Stereotypical hand wringing ORPHA:289266
Angelman Syndrome Due To A Point Mutation
Ataxia, Recurrent hand flapping, Tongue thrusting ORPHA:411511
Alazami Syndrome
Motor stereotypy, Low-set ears, Stereotypical hand wringing ORPHA:319671
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Ataxia, Recurrent hand flapping, Myoclonus, Tongue thrusting, Tremor ORPHA:98794
Megalocornea-Intellectual Disability Syndrome
Sensorineural hearing impairment, Ataxia, Motor stereotypy, Protruding ear ORPHA:2479
Dilated Cardiomyopathy With Ataxia
Ataxia, Action tremor, Repetitive compulsive behavior, Lower limb spasticity, Dystonia, Bilateral... ORPHA:66634
3P25.3 Microdeletion Syndrome
Sensorineural hearing impairment, Abnormality of the outer ear, Ataxia, Motor stereotypy ORPHA:435638
Shukla-Vernon Syndrome
Motor stereotypy OMIM:301029
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Motor stereotypy, Ataxia, Hyperkinetic movements, Chorea, Hemiballismus, Choreoathetosis, Athetoi... ORPHA:522077
Kohlschutter-Tonz Syndrome-Like
Motor stereotypy, Ataxia, Myoclonus, Stereotypical hand wringing, Tremor, Spasticity, Upper limb ... OMIM:619229
Hydroxykynureninuria
Motor stereotypy, Hypertonia, Congenital sensorineural hearing impairment ORPHA:79155
Rett Syndrome
Motor stereotypy, Bradykinesia, Stereotypical hand wringing, Limb apraxia, Dystonia ORPHA:778
Galloway-Mowat Syndrome 6
Motor stereotypy OMIM:618347
Intellectual Developmental Disorder, Autosomal Recessive 13
Recurrent hand flapping OMIM:613192
Autism, Susceptibility To, 3
Motor stereotypy OMIM:608049
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Motor stereotypy, Hypertonia, Cupped ear, Cerebral palsy OMIM:618914
Intellectual Developmental Disorder, Autosomal Dominant 51
Tics, Recurrent hand flapping, Recurrent otitis media OMIM:617788
Inverted Duplicated Chromosome 15 Syndrome
Motor stereotypy, Low-set, posteriorly rotated ears ORPHA:3306
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Hypertonia, Stereotypical hand wringing OMIM:619854
D-Glyceric Aciduria
Sensorineural hearing impairment, Opisthotonus, Myoclonus, Tongue thrusting, Spastic tetraplegia,... OMIM:220120
Niemann-Pick Disease, Type C2
Motor stereotypy, Ataxia, Cataplexy, Spasticity, Dystonia OMIM:607625
Potocki-Lupski Syndrome
Motor stereotypy, Hearing impairment OMIM:610883
5Q14.3 Microdeletion Syndrome
Motor stereotypy ORPHA:228384
Cri-Du-Chat Syndrome
Motor stereotypy, Hypertonia, Abnormal pinna morphology, Stenosis of the external auditory canal,... OMIM:123450
Cerebral Creatine Deficiency Syndrome 1
Motor stereotypy, Hypertonia, Underfolded superior helices, Speech apraxia, Spasticity, Dystonia,... OMIM:300352
Short Stature, Developmental Delay, And Congenital Heart Defects
Motor stereotypy OMIM:617044
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Motor stereotypy, Involuntary movements, Paroxysmal dystonia ORPHA:98784
Intellectual Developmental Disorder, Autosomal Dominant 34
Motor stereotypy, Hearing impairment OMIM:616351
Chromosome 5P13 Duplication Syndrome
Motor stereotypy, Low-set ears OMIM:613174
Smith-Magenis Syndrome
Motor stereotypy, Conductive hearing impairment, Impaired pain sensation, Chronic otitis media ORPHA:819
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Motor stereotypy, Low-set ears, Bilateral conductive hearing impairment OMIM:617802
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Motor stereotypy, Macrotia ORPHA:391307
Blepharophimosis-Impaired Intellectual Development Syndrome
Motor stereotypy, Low-set ears, Posteriorly rotated ears OMIM:619293
Optic Atrophy-Intellectual Disability Syndrome
Protruding ear, Abnormal helix morphology, Spasticity, Repetitive compulsive behavior, Hearing im... ORPHA:401777
Intellectual Developmental Disorder, Autosomal Recessive 38
Recurrent hand flapping OMIM:615516
Foxg1 Syndrome Due To 14Q12 Microdeletion
Abnormal antihelix morphology, Protruding ear, Motor stereotypy ORPHA:261144
Intellectual Developmental Disorder, Autosomal Dominant 52
Sensorineural hearing impairment, Low-set ears, Asymmetry of the ears, Motor stereotypy OMIM:617796
Childhood Disintegrative Disorder
Motor stereotypy ORPHA:168782
Leber Congenital Amaurosis 8
Eye poking OMIM:613835
Macrocephaly-Developmental Delay Syndrome
Abnormal speech discrimination, Motor stereotypy ORPHA:397612
Phelan-Mcdermid Syndrome
Motor stereotypy, Protruding ear, Tongue thrusting, Impaired pain sensation, Macrotia, Hearing im... OMIM:606232
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Motor stereotypy, Speech apraxia ORPHA:529965
Microphthalmia-Brain Atrophy Syndrome
Spasticity, Tongue thrusting ORPHA:77299
Cntnap2-Related Developmental And Epileptic Encephalopathy
Cerebral palsy, Ataxia, Lower limb spasticity, Stereotypical hand wringing ORPHA:163681
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Motor stereotypy, Low-set ears, Ataxia ORPHA:457279
Hypotonia, Ataxia, And Delayed Development Syndrome
Motor stereotypy, Ataxia, Pain insensitivity, Dysmetria, Overfolded helix, Truncal ataxia, Small ... OMIM:617330
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Motor stereotypy, Hypertonia, Babinski sign, Prominent antihelix, Spasticity, Macrotia OMIM:615802
Developmental And Speech Delay Due To Sox5 Deficiency
Motor stereotypy ORPHA:313892
22Q11.2 Duplication Syndrome
Motor stereotypy, Hearing impairment, Anterior creases of earlobe ORPHA:1727
Pitt-Hopkins Syndrome
Motor stereotypy, Cupped ear, Gait ataxia, Incoordination, Thickened helices OMIM:610954
Intellectual Developmental Disorder, Autosomal Dominant 38
Motor stereotypy, Low-set ears, Ataxia OMIM:616393
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Motor stereotypy, Macrotia, Recurrent hand flapping, Recurrent otitis media ORPHA:449291
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Motor stereotypy, Tremor, Gait ataxia ORPHA:476126
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Sensorineural hearing impairment, Motor stereotypy, Limb hypertonia, Spasticity, Limb dystonia ORPHA:457351
White-Sutton Syndrome
Sensorineural hearing impairment, Motor stereotypy, Tics, Abnormality of the outer ear, Low-set e... OMIM:616364
Intellectual Developmental Disorder, Autosomal Dominant 1
Ataxia, Protruding ear, Recurrent hand flapping, Microtia, Cupped ear, Low-set ears OMIM:156200
Helsmoortel-Van Der Aa Syndrome
Motor stereotypy, Low-set, posteriorly rotated ears OMIM:615873
Congenital Disorder Of Glycosylation, Type Iia
Sensorineural hearing impairment, Hypertonia, Motor stereotypy, Macrotia, Posteriorly rotated ears OMIM:212066
Leber Congenital Amaurosis 9
Eye poking OMIM:608553
Nmda Receptor Encephalitis
Motor stereotypy, Opisthotonus, Oculogyric crisis, Myoclonus, Rigidity, Chorea, Choreoathetosis, ... ORPHA:217253
Angelman Syndrome
Ataxia, Recurrent hand flapping, Myoclonus, Tongue thrusting, Tremor ORPHA:72
Cystinosis
Motor stereotypy, Abnormal pyramidal sign ORPHA:213
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hearing impairment, Low-set ears, Jerky head movements ORPHA:369837
Rauch-Steindl Syndrome
Motor stereotypy, Protruding ear, Prominent crus of helix, Attached earlobe OMIM:619695
Kleefstra Syndrome 1
Motor stereotypy, Hearing impairment, Abnormal pinna morphology OMIM:610253
Bainbridge-Ropers Syndrome
Motor stereotypy, Hypertonia, Recurrent hand flapping, Low-set ears, Posteriorly rotated ears OMIM:615485
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Motor stereotypy, Low-set ears OMIM:619103
Intellectual Developmental Disorder, Autosomal Dominant 22
Low-set ears, Abnormal pinna morphology, Stereotypical hand wringing OMIM:612337
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Isometric tremor, Ataxia, Otitis media, Tics, Spasticity, Hypertonia, Intention tremor, Cupped ea... OMIM:619475
Distal Xq28 Microduplication Syndrome
Absent antihelix, Stereotypical body rocking, Microtia ORPHA:293939
7Q11.23 Microduplication Syndrome
Large earlobe, Motor stereotypy, Dysmetria, Overfolded helix, Chronic otitis media, Low-set, post... ORPHA:96121
Developmental And Epileptic Encephalopathy 100
Motor stereotypy, Myoclonus, Chorea, Choreoathetosis, Gait ataxia OMIM:619777
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Motor stereotypy, Hypertonia, Protruding ear, Myoclonic spasms, Clonus, Low-set ears, Lower limb ... ORPHA:447997
2Q37 Microdeletion Syndrome
Motor stereotypy, Conductive hearing impairment ORPHA:1001
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Sensorineural hearing impairment, Motor stereotypy, Microtia, Spasticity, Low-set ears, Posterior... OMIM:301040
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Apraxia, Parkinsonism, Repetitive compulsive behavior OMIM:607485
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Motor stereotypy, Ataxia, Protruding ear, Poor gross motor coordination, Hand tremor, Dysmetria, ... OMIM:614756
Kleefstra Syndrome
Thickened helices, Hearing impairment, Motor stereotypy, Chronic otitis media ORPHA:261494
White-Sutton Syndrome
Sensorineural hearing impairment, Motor stereotypy, Incoordination, Abnormality of the outer ear,... ORPHA:468678
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Motor stereotypy, Stereotypical body rocking, Abnormal Eustachian tube morphology, Gait ataxia, R... ORPHA:513456
Transketolase Deficiency
Motor stereotypy, Hearing impairment ORPHA:488618
21Q22.11Q22.12 Microdeletion Syndrome
Stereotypical body rocking, Microtia, Tongue thrusting, Recurrent otitis media, Low-set ears ORPHA:261323
Developmental And Epileptic Encephalopathy 2
Motor stereotypy, Myoclonus OMIM:300672
Cardiofaciocutaneous Syndrome 1
Large earlobe, Low-set ears, Hypertonia, Tongue thrusting, Anterior creases of earlobe, Oculomoto... OMIM:115150
Bainbridge-Ropers Syndrome
Hypertonia, Recurrent hand flapping ORPHA:352577
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Tongue thrusting ORPHA:98795
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Motor stereotypy, Hypertonia, Thin ear helix, Abnormal pyramidal sign, Hyperkinetic movements, Lo... ORPHA:468631
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Motor stereotypy, Impaired pain sensation OMIM:619005
Microcephaly 26, Primary, Autosomal Dominant
Spastic tetraparesis, Stereotypical hand wringing OMIM:619179
Pyruvate Carboxylase Deficiency
Ataxia, Recurrent hand flapping, Abnormal pyramidal sign, Tremor, Dystonia ORPHA:3008
Tessadori-Van Haaften Neurodevelopmental Syndrome 3
Thickened helices, Ataxia, Spastic diplegia, Limb hypertonia, Cerebral palsy, Stereotypical hand ... OMIM:619950
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Motor stereotypy, Hypertonia, Opisthotonus ORPHA:508533
Mgat2-Cdg
Stereotypical hand wringing, Low-set, posteriorly rotated ears, Prominent antihelix, Abnormal ear... ORPHA:79329
Arboleda-Tham Syndrome
Prominent antitragus, Motor stereotypy, Lower limb hypertonia, Chronic otitis media, Underdevelop... OMIM:616268
Kinsship Syndrome
Spastic tetraparesis, Low-set ears, Motor stereotypy, Myoclonus OMIM:619297
Van Esch-O'Driscoll Syndrome
Motor stereotypy, Protruding ear, Microtia, Unilateral vocal cord paralysis, Spasticity OMIM:301030
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Sensorineural hearing impairment, Low-set ears, Motor stereotypy, Recurrent otitis media OMIM:619575
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Sensorineural hearing impairment, Motor stereotypy, Macrotia, Low-set ears, Posteriorly rotated ears OMIM:619512
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Motor stereotypy, Low-set ears, Protruding ear, Poor coordination, Spastic diplegia, Cupped ear, ... OMIM:309590
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Motor stereotypy, Posteriorly rotated ears, Recurrent otitis media OMIM:301066
Dyrk1A-Related Intellectual Disability Syndrome
Motor stereotypy, Protruding ear, Macrotia ORPHA:464306
Wiedemann-Steiner Syndrome
Motor stereotypy, Low-set ears ORPHA:319182
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Motor stereotypy, Protruding ear ORPHA:464311
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Overfolded helix, Low-set ears, Motor stereotypy OMIM:618653
Dpagt1-Cdg
Hypertonia, Ataxia, Stereotypical body rocking, Tremor, Hearing impairment ORPHA:86309
Ogden Syndrome
Torticollis, Hypertonia, Protruding ear, Motor stereotypy, Macrotia, Recurrent otitis media, Low-... OMIM:300855
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Hemiparesis, Tongue thrusting, Underdeveloped superior crus of antihelix, Hearing impairment, Pos... ORPHA:369950
Prader-Willi Syndrome Due To Translocation
Motor stereotypy ORPHA:177907
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Motor stereotypy, Hearing impairment ORPHA:508498
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Motor stereotypy, Hypertonia, Overfolded helix, Spastic tetraparesis, Posteriorly rotated ears OMIM:301044
Coffin-Siris Syndrome 12
Large earlobe, Sensorineural hearing impairment, Protruding ear, Motor stereotypy, Overfolding of... OMIM:619325
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Hypertonia, Ataxia, Protruding ear, Stereotypical hand wringing, Hearing impairment ORPHA:268261
Mucopolysaccharidosis Type 2
Sensorineural hearing impairment, Otosclerosis, Motor stereotypy, Conductive hearing impairment ORPHA:580
Oculocerebrorenal Syndrome Of Lowe
Motor stereotypy, Protruding ear, Chronic otitis media, Low-set, posteriorly rotated ears, Clonus ORPHA:534
Norrie Disease
Sensorineural hearing impairment, Hypertonia, Protruding ear, Motor stereotypy, Abnormal helix mo... ORPHA:649
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Motor stereotypy, Exaggerated startle response, Microtia, Small earlobe, Low-set ears, Posteriorl... OMIM:619522
1P36 Deletion Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Motor stereotypy, Hemiplegia/hem... ORPHA:1606
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Motor stereotypy OMIM:616682
Primrose Syndrome
Motor stereotypy, Ataxia, Calcification of the auricular cartilage, Superiorly displaced ears, Ti... OMIM:259050
Wolf-Hirschhorn Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Motor... OMIM:194190
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Sensorineural hearing impairment, Conductive hearing impairment, Motor stereotypy, Otitis media ORPHA:353281
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Exaggerated startle response, Myoclonus, Stereotypical hand wringing, Involuntary movements, Dyst... ORPHA:438213
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Sensorineural hearing impairment, Conductive hearing impairment, Motor stereotypy, Otitis media, ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Sensorineural hearing impairment, Conductive hearing impairment, Motor stereotypy, Otitis media, ... ORPHA:353277
Mowat-Wilson Syndrome
Sensorineural hearing impairment, Uplifted earlobe, Ataxia, Conductive hearing impairment, Motor ... ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Sensorineural hearing impairment, Uplifted earlobe, Motor stereotypy, Poor fine motor coordinatio... ORPHA:261537
Lowe Oculocerebrorenal Syndrome
Motor stereotypy OMIM:309000
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Sensorineural hearing impairment, Uplifted earlobe, Motor stereotypy, Poor fine motor coordinatio... ORPHA:261552
Tuberous Sclerosis Complex
Repetitive compulsive behavior ORPHA:805
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Stereotypical body rocking, Macrotia, Chronic otitis media, Recurrent otitis media, Low-set ears OMIM:619503

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.

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

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