Gene Summary

Name:
otogelin-like
Synonyms:
Gm6924

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
decreased startle reflex Otoglem1(IMPC)J HOM   Early adult 8.34×10-06
hyperactivity Otoglem1(IMPC)J HOM   Early adult 3.04×10-05
decreased thigmotaxis Otoglem1(IMPC)J HOM Early adult 3.32×10-05
abnormal skin morphology Otoglem1(IMPC)J HOM Late adult 2.56×10-05
abnormal auditory brainstem response Otoglem1(IMPC)J HOM   Early adult 5.14×10-10
abnormal coat/ hair morphology Otoglem1(IMPC)J HOM   Late adult 1.12×10-06
abnormal vocalization Otoglem1(IMPC)J HOM Late adult 7.80×10-06
abnormal startle reflex Otoglem1(IMPC)J HOM Late adult 9.49×10-05

Download data as:  TSV  XLS

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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.

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

X-ray

XRay Images Forepaw

9 Images

X-ray

XRay Images Skull Lateral Orientation

9 Images

Eye Morphology

Images Ophthalmoscopy

5 Images

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

Auditory Brain Stem Response

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

5 Images

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Deafness, Autosomal Recessive 84B
Hearing impairment OMIM:614944

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Developmental And Epileptic Encephalopathy 56
Ataxia, EEG abnormality, Broad-based gait, Anxiety, Attention deficit hyperactivity disorder OMIM:617665
Autism, Susceptibility To, X-Linked 4
Attention deficit hyperactivity disorder, Aggressive behavior, Impulsivity OMIM:300830
Severe Primary Trimethylaminuria
Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity, Anxiety, Depression ORPHA:468726
Mental Retardation, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Familial Alzheimer-Like Prion Disease
Anxiety, Attention deficit hyperactivity disorder, Emotional lability, Depression ORPHA:280397
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Mental Retardation, Autosomal Dominant 52
Hyperactivity, Anxiety OMIM:617796
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Auditory Neuropathy, Autosomal Dominant, 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Parkinsonism With Polyneuropathy
Decreased motor nerve conduction velocity, Bradykinesia, Decreased amplitude of sensory action po... OMIM:619279
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder, Continuous spike and waves ... OMIM:301008
Dystonia 11, Myoclonic
Writer's cramp, Agoraphobia, Torticollis, Tremor, Anxiety, Depression OMIM:159900
Mental Retardation, Autosomal Recessive 37
Hyperactivity, Aggressive behavior OMIM:615493
Immunodeficiency 8
Hyperactivity OMIM:615401
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Inability to walk, Irritability OMIM:616657
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Aggressive behavior ORPHA:356996
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, EEG abnormality ORPHA:436151
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Anxiety, Aggressive behavior, Hyperactivity OMIM:619031
Gilles De La Tourette Syndrome
Attention deficit hyperactivity disorder, Aggressive behavior, Self-mutilation OMIM:137580
Obsessive-Compulsive Disorder
Skin-picking, Anxiety, Depression OMIM:164230
Myoclonus-Dystonia Syndrome
Dystonia, Writer's cramp, Torticollis, Personality disorder, Panic attack, Anxiety, Depression ORPHA:36899
Epilepsy, Progressive Myoclonic, 12
Dysmetria, Ataxia, Anxiety, Attention deficit hyperactivity disorder, Depression, Difficulty walking OMIM:619191
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear/anxiety-related behavior, Aggressive behavior, Focal EEG discharges with secondary ... ORPHA:3077
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia OMIM:617113
Smith-Magenis syndrome
Hyperactivity, Self-mutilation DECIPHER:8
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, Abnormal mot... ORPHA:320401
Huntington Disease-Like 2
Dystonia, Apathy, Bradykinesia, Irritability, Action tremor, Anxiety, Depression OMIM:606438
Ravine Syndrome
Ataxia, Abnormal auditory evoked potentials ORPHA:99852
Hyperprolinemia, Type I
Hyperactivity, Aggressive behavior, Ataxia, EEG abnormality OMIM:239500
Parkinson Disease 6, Autosomal Recessive Early-Onset
Dystonia, Bradykinesia, Resting tremor, Anxiety, Depression OMIM:605909
Abcd Syndrome
Abnormal auditory evoked potentials, Aganglionic megacolon, Hearing impairment OMIM:600501
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Gait disturbance, Dysmetria, Tremor, Hyperactivity, Inability to walk OMIM:618090
Landau-Kleffner Syndrome
EEG with temporal focal spikes, Steppage gait, Aggressive behavior, EEG with generalized epilepti... ORPHA:98818
Lennox-Gastaut Syndrome
Aggressive behavior, Falls, EEG with focal sharp slow waves, Hyperactivity, Personality disorder,... ORPHA:2382
Pandas
Abnormal fear/anxiety-related behavior, Agoraphobia, Claustrophobia, Irritability, Emotional labi... ORPHA:66624
Glycine Encephalopathy
Aggressive behavior, Hyperactivity, Irritability, Impulsivity, Lethargy OMIM:605899
Mohr-Tranebjaerg Syndrome
Optic atrophy, Dystonia, Abnormality of somatosensory evoked potentials, Oromandibular dystonia, ... ORPHA:52368
Intellectual Developmental Disorder, X-Linked 104
Optic atrophy, Aggressive behavior, Abnormality of the pinna, Tremor, Hyperactivity, Ataxia OMIM:300983
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Aggressive behavior, Hearing impairment OMIM:248510
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Optic atrophy, Aggressive behavior, Tremor, Hyperactivity, Broad-based gait OMIM:619470
Insulin-Like Growth Factor I Deficiency
Sensorineural hearing impairment, Hyperactivity OMIM:608747
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Prolonged s... OMIM:616648
Fraxe Intellectual Disability
Hyperactivity, Aggressive behavior, Prominent ear helix, Impulsivity ORPHA:100973
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Gait disturbance, Abnormal auditory evoked potentials, Ataxia, Progressive sensori... OMIM:125250
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity, Aggressive behavior, Impulsivity OMIM:604317
Charcot-Marie-Tooth Disease, Type 4D
Gait disturbance, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Heari... OMIM:601455
Cln5 Disease
Dysmetria, Aggressive behavior, EEG with generalized slow activity, Multifocal epileptiform disch... ORPHA:228360
Autosomal Recessive Non-Syndromic Intellectual Disability
Dystonia, EEG with focal epileptiform discharges, EEG with generalized epileptiform discharges, H... ORPHA:88616
Late-Infantile/Juvenile Krabbe Disease
Gait disturbance, Loss of ambulation, Decreased nerve conduction velocity, Tremor, Ataxia, Emotio... ORPHA:206443
Stiff Person Spectrum Disorder
Agoraphobia, Falls, Exaggerated startle response, Emotional lability, Anxiety, Difficulty walking ORPHA:3198
Parkinson Disease 7, Autosomal Recessive Early-Onset
Postural tremor, Bradykinesia, Resting tremor, Anxiety, Blepharospasm, Leg dystonia OMIM:606324
Juvenile Huntington Disease
Dystonia, Bradykinesia, Hyperactivity, Progressive cerebellar ataxia, Irritability, Ataxia, Broad... ORPHA:248111
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Paroxysmal bursts of laughter, Self-injurious behavior, Tremor, Hyperactivity, Inability to walk,... OMIM:618718
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Aggressive behavior, Impulsivity OMIM:309548
Chromosome 3Q29 Deletion Syndrome
Aggressive behavior, Macrotia, Posteriorly rotated ears, Hyperactivity, Anxiety, Gait ataxia OMIM:609425
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Aggressive behavior, Tremor, Hyperactivity, Ataxia OMIM:612716
Phenylketonuria
Aggressive behavior, Self-mutilation, Hyperactivity, Irritability, Anxiety, Attention deficit hyp... OMIM:261600
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Optic atrophy, Macrotia OMIM:300928
Mental Retardation, Autosomal Dominant 43
Hyperactivity, Anxiety, Impulsivity OMIM:616977
Aminoacylase 1 Deficiency
Sensorineural hearing impairment, Hyperactivity OMIM:609924
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Dystonia, Ataxia, Tremor OMIM:615924
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Aggressive behavior, Macrotia OMIM:615541
Morm Syndrome
Hyperactivity, Aggressive behavior ORPHA:75858
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity OMIM:617169
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Facial palsy, Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality OMIM:617519
Cognitive Impairment With Or Without Cerebellar Ataxia
Dysmetria, Optic nerve hypoplasia, Ataxia, Emotional lability, Attention deficit hyperactivity di... OMIM:614306
Intellectual Developmental Disorder, X-Linked 107
Abnormality of superior crus of antihelix, Aggressive behavior, Macrotia, Hyperactivity, Prominen... OMIM:301013
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Facial palsy, Heari... OMIM:601596
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Happy demeanor, Inappropriate laughter, Hyperactivity, Ataxia, EEG abnormality, Broad-based gait ORPHA:411515
Succinic Semialdehyde Dehydrogenase Deficiency
Self-injurious behavior, Aggressive behavior, Hyperactivity, Ataxia, EEG abnormality, Anxiety OMIM:271980
Dystonia 26, Myoclonic
Torticollis, Blepharospasm, Laryngeal dystonia, Anxiety, Depression OMIM:616398
Rasmussen Subacute Encephalitis
Increased theta frequency activity in EEG, Hemidystonia, EEG with focal epileptiform discharges, ... ORPHA:1929
Coffin-Siris Syndrome 8
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:618362
Gm2 Gangliosidosis, Ab Variant
Dystonia, Abnormal fear/anxiety-related behavior, Inappropriate behavior, Exaggerated startle res... ORPHA:309246
Xq25 Microduplication Syndrome
Hyperactivity, Anxiety ORPHA:521258
Chromosome Xq25 Duplication Syndrome
Hyperactivity, Anxiety OMIM:300979
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Myoclonic-Astatic Epilepsy
EEG with focal spike waves, Interictal epileptiform activity, EEG with generalized slow activity,... ORPHA:1942
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Dystonia, Aggressive behavior, Hyperactivity, Inability to walk, EEG abnormality, Impulsivity, Ga... ORPHA:500180
Mental Retardation, Autosomal Recessive 61
Hyperactivity, Aggressive behavior, EEG abnormality, Posteriorly rotated ears OMIM:617773
Usmani-Riazuddin Syndrome, Autosomal Dominant
Self-injurious behavior, Aggressive behavior, Hyperactivity, Anxiety, Depression OMIM:619467
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Sensorineural hearing impairment, Hyperactivity, Aggressive behavior OMIM:618342
Clcn4-Related X-Linked Intellectual Disability Syndrome
Self-injurious behavior, Aggressive behavior, Hyperactivity, Progressive cerebellar ataxia, EEG w... ORPHA:485350
Optic Atrophy 11
Optic atrophy, Facial diplegia, Dysmetria, Macrotia, Hearing impairment, Hyperactivity, Ataxia OMIM:617302
Dihydropyrimidine Dehydrogenase Deficiency
Hyperactivity, Optic atrophy, Lethargy OMIM:274270
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hea... ORPHA:1215
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity ORPHA:85288
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hyperactivity, Aggressive behavior, Broad-based gait, Hearing impairment ORPHA:457260
Adult-Onset Autosomal Dominant Leukodystrophy
Gait disturbance, Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potent... ORPHA:99027
Guanidinoacetate Methyltransferase Deficiency
Athetosis, Dystonia, Self-injurious behavior, Aggressive behavior, Hyperactivity, Ataxia ORPHA:382
Early-Onset Schizophrenia
Unhappy demeanor, Low self esteem, Suicidal ideation, Irritability, Anhedonia, Emotional lability... ORPHA:96369
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Increased theta frequency activity in EEG, Paroxysmal dystonia, Interictal epileptiform activity,... ORPHA:98784
Hyperekplexia-Epilepsy Syndrome
EEG with temporal focal spikes, Exaggerated startle response ORPHA:163985
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Anxiety, Aggressive behavior, Impulsivity ORPHA:101039
Late Infantile Neuronal Ceroid Lipofuscinosis
Gait disturbance, EEG with series of focal spikes, EEG with photoparoxysmal response, Aggressive ... ORPHA:168491
Intellectual Developmental Disorder, Autosomal Recessive 38
Unsteady gait, Hyperactivity, Aggressive behavior, Self-mutilation OMIM:615516
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Charcot-Marie-Tooth Disease Type 1F
Steppage gait, Hand tremor, Optic nerve hypoplasia, Head tremor, Absent brainstem auditory respon... ORPHA:101085
Ck Syndrome
Hyperactivity, Aggressive behavior, Irritability, Posteriorly rotated ears ORPHA:251383
Gand Syndrome
Hyperactivity, Inappropriate laughter OMIM:615074
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Ck Syndrome
Hyperactivity, Aggressive behavior, Irritability, Posteriorly rotated ears OMIM:300831
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Cntnap2-Related Developmental And Epileptic Encephalopathy
Skin-picking, Interictal epileptiform activity, Aggressive behavior, EEG with generalized epilept... ORPHA:163681
Intellectual Developmental Disorder, X-Linked 30
Hyperactivity, Anxiety, Aggressive behavior, Macrotia OMIM:300558
Intellectual Developmental Disorder, X-Linked 21
Hyperactivity, Uplifted earlobe, Impulsivity OMIM:300143
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Hyperactivity, Optic atrophy, Aggressive behavior, Hearing impairment ORPHA:369939
Neurodegeneration With Brain Iron Accumulation 2B
Optic atrophy, Dystonia, Dysmetria, Bradykinesia, Intention tremor, Hyperactivity, Emotional labi... OMIM:610217
Clark-Baraitser Syndrome
Hyperactivity, Aggressive behavior OMIM:617752
Infantile Neuroaxonal Dystrophy
Optic atrophy, Gait disturbance, Dystonia, Hyperactivity, Ataxia, Emotional lability, Impulsivity... ORPHA:35069
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Unsteady gait, Hyperactivity, Happy demeanor, Broad-based gait OMIM:617865
Aromatic L-Amino Acid Decarboxylase Deficiency
Athetosis, Torticollis, Limb tremor, Exaggerated startle response, Emotional lability, Irritabili... OMIM:608643
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity OMIM:300434
Stiff-Person Syndrome
Opisthotonus, Agoraphobia, Exaggerated startle response, Anxiety, Depression OMIM:184850
Adult Krabbe Disease
Gait disturbance, Ataxia, EEG abnormality, Broad-based gait, Prolonged brainstem auditory evoked ... ORPHA:206448
Hyperphosphatasia With Mental Retardation Syndrome 6
Large earlobe, EEG with multifocal slow activity, Aggressive behavior, Hyperactivity, Thickened h... OMIM:616809
Acrocraniofacial Dysostosis
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal auditory evoked potentials OMIM:201050
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Aggressive behavior, Ataxia, EEG abnormality OMIM:610042
Mental Retardation, Autosomal Dominant 7
Gait disturbance, Happy demeanor, Macrotia, Abnormality of the pinna, Inappropriate laughter, Hyp... OMIM:614104
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Head titubation, Absent brainstem auditory responses, Vestibular areflexia ORPHA:3240
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Hyperactivity, Aggressive behavior, Broad-based gait, Hearing impairment OMIM:300958
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Gait imbalance, Happy demeanor, Inappropriate laughter, Tremor, Hyperactivity, Ataxia, EEG abnorm... ORPHA:98794
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Hyperactivity, Aggressive behavior OMIM:615824
X-Linked Adrenoleukodystrophy
Progressive hearing impairment, Gait disturbance, Aggressive behavior, Inappropriate sexual behav... ORPHA:43
Cerebrotendinous Xanthomatosis
Optic atrophy, Optic neuropathy, Abnormal auditory evoked potentials, Optic disc pallor, Abnormal... ORPHA:909
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Adenylosuccinase Deficiency
Happy demeanor, Opisthotonus, Aggressive behavior, Self-mutilation, Inappropriate laughter, Hyper... OMIM:103050
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Mood swings, Aggressive behavior, Abnormality of the pinna, Tremor, Hyperactivity, Gait ataxia OMIM:300354
Graves Disease, Susceptibility To, 1
Hyperactivity, Irritability OMIM:275000
Spastic Tetraplegia And Axial Hypotonia, Progressive
Ataxia, Low-set, posteriorly rotated ears, Exaggerated startle response OMIM:618598
Neurodevelopmental Disorder With Or Without Autism Or Seizures
EEG with burst suppression, Hyperactivity, Hypsarrhythmia OMIM:619239
Coffin-Siris Syndrome 7
Hyperactivity, Macrotia, Posteriorly rotated ears, Hearing impairment OMIM:618027
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response, Optic atrophy, Optic disc pallor, Difficulty walking ORPHA:320406
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Hyperactivity, Aggressive behavior OMIM:615286
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Sensorineural hearing impairment, Optic disc pallor, Abnormal auditory evoked potentials, Ataxia OMIM:619260
Intellectual Developmental Disorder, Autosomal Recessive 71
Hyperactivity, Attention deficit hyperactivity disorder, Macrotia OMIM:618504
X-Linked Creatine Transporter Deficiency
Athetosis, Dystonia, Aganglionic megacolon, Self-mutilation, Hyperactivity, Ataxia ORPHA:52503
Infantile Krabbe Disease
Optic atrophy, Inappropriate crying, Opisthotonus, Decreased nerve conduction velocity, Hearing i... ORPHA:206436
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Aggressive behavior, Macrotia, Hyperactivity, Irritability, Anxiety, Att... ORPHA:449291
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Aggressive behavior ORPHA:85327
Severe Neurodegenerative Syndrome With Lipodystrophy
Tremor, Hyperactivity, Ataxia, Gait ataxia, Limb dystonia ORPHA:363400
Chromosome 2Q37 Deletion Syndrome
Sensorineural hearing impairment, Self-injurious behavior, Aggressive behavior, Hyperactivity OMIM:600430
Smith-Magenis Syndrome
Morphological abnormality of the middle ear, Self-mutilation, Hearing impairment, Hyperactivity, ... OMIM:182290
Gm2-Gangliosidosis, Ab Variant
Dystonia, Apathy, Exaggerated startle response OMIM:272750
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
Rubinstein-Taybi Syndrome 2
Hyperactivity, Posterior helix pit OMIM:613684
Hypomagnesemia, Seizures, And Mental Retardation 2
Hyperactivity, Self-biting OMIM:618314
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Aggressive behavior, Irritability, Macrotia ORPHA:391307
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic atrophy, Optic disc pallor, Exaggerated startle response OMIM:609541
Gomez-Lopez-Hernandez Syndrome
Self-injurious behavior, Posteriorly rotated ears, Hyperactivity, Ataxia, Depression, Bipolar aff... OMIM:601853
Cockayne Syndrome Type 1
Optic atrophy, Gait disturbance, Macrotia, Absent brainstem auditory responses, Hearing impairmen... ORPHA:90321
Angelman Syndrome
Paroxysmal bursts of laughter, Limb tremor, Progressive gait ataxia, Hyperactivity, EEG abnormali... OMIM:105830
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Exaggerated startle response, Ataxia, Broad-based gait, Anxiety ORPHA:438216
2Q23.1 Microdeletion Syndrome
Self-injurious behavior, Hyperactivity, Paroxysmal bursts of laughter, Ataxia ORPHA:228402
Tay-Sachs Disease
Apathy, Exaggerated startle response OMIM:272800
Cri-Du-Chat Syndrome
Optic atrophy, Aggressive behavior, Conspicuously happy disposition, Abnormality of the pinna, Se... OMIM:123450
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Decreased nerve conduction velocity, Sensorineural hearing i... OMIM:609136
Tay-Sachs Disease
Optic atrophy, Gait disturbance, Dystonia, Dysmetria, Exaggerated startle response, Hearing impai... ORPHA:845
Angelman Syndrome
Optic atrophy, Optic disc pallor, Happy demeanor, Self-injurious behavior, Aggressive behavior, I... ORPHA:72
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Chromosome 10Q26 Deletion Syndrome
Aggressive behavior, Sensorineural hearing impairment, Hyperactivity, Broad-based gait, Protrudin... OMIM:609625
Mental Retardation, Autosomal Recessive 13
Hyperactivity OMIM:613192
Inverted Duplicated Chromosome 15 Syndrome
Hyperactivity, Aggressive behavior, Low-set, posteriorly rotated ears, Self-biting ORPHA:3306
Insensitivity To Pain, Congenital, With Anhidrosis
Self-mutilation, Hyperactivity, Emotional lability, Postural hypotension with compensatory tachyc... OMIM:256800
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Aggressive behavior, Posteriorly rotated ears, Hyperactivity, Ataxia, Anxiety OMIM:618430
Mucopolysaccharidosis, Type Iiib
Hyperactivity, Aggressive behavior, Hearing impairment OMIM:252920
Fragile X Syndrome
Hyperactivity, Macrotia OMIM:300624
16P12.1P12.3 Triplication Syndrome
Large earlobe, Skin-picking, Hyperactivity, Anxiety, Attention deficit hyperactivity disorder, Na... ORPHA:485405
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Aggressive behavior, Macrotia, Hearing impairment, Multifocal epileptiform discharges, Hyperactiv... ORPHA:369891
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Congenital sensorineural hearing impairment, Sensorineural hearing impairment, Hyperactivity, Bil... ORPHA:73272
Myopathy With Extrapyramidal Signs
Dystonia, Optic atrophy, Tremor, Hyperactivity, Ataxia, Difficulty walking OMIM:615673
13Q12.3 Microdeletion Syndrome
Hyperactivity, Self-mutilation, Hearing impairment ORPHA:412035
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529808
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529799
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Hyperactivity, Posteriorly rotated ears, Microtia OMIM:618089
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Self-mutilation, Macrotia, Hyperactivity, Low frustration tolerance, Gait ataxia OMIM:300486
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Optic nerve hypoplasia, Self-mutilation, Inappropriate laughter, Hyperactivity, Low frustration t... ORPHA:363686
Chromosome 15Q25 Deletion Syndrome
Hyperactivity, Attention deficit hyperactivity disorder OMIM:614294
Choreoacanthocytosis
Self-injurious behavior, Oromandibular dystonia, Apathy, Irritability, Anxiety, Hair-pulling, Lin... ORPHA:2388
Cockayne Syndrome A
Optic atrophy, Gait disturbance, Abnormal auditory evoked potentials, Abnormality of the pinna, D... OMIM:216400
X-Linked Intellectual Disability, Cabezas Type
Abnormal earlobe morphology, Aggressive behavior, Tremor, Hyperactivity, EEG abnormality, Broad-b... ORPHA:85293
Potocki-Lupski Syndrome
Hyperactivity, EEG abnormality, Hearing impairment OMIM:610883
19P13.3 Microduplication Syndrome
Self-injurious behavior, Posteriorly rotated ears, Hyperactivity, Irritability, Microtia ORPHA:447980
Lamb-Shaffer Syndrome
Hyperactivity, Optic atrophy, Ataxia ORPHA:530983
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Aggressive behavior, Hyperactivity, Emotional lability, Low frustration tolerance, Abnormally fol... OMIM:309520
Mend Syndrome
Hyperactivity, Aggressive behavior, Abnormal auditory evoked potentials ORPHA:401973
Asparagine Synthetase Deficiency
Exaggerated startle response, Macrotia, Hypsarrhythmia OMIM:615574
Neurodegeneration With Brain Iron Accumulation 1
Optic atrophy, Gait disturbance, Dystonia, Bradykinesia, Blepharospasm, Tremor, Hyperactivity, At... OMIM:234200
Mogs-Cdg
Sensorineural hearing impairment, Optic atrophy, Absent brainstem auditory responses, Dystonia ORPHA:79330
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Cockayne Syndrome B
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of the pinna, Decreased nerve con... OMIM:133540
Glass Syndrome
Hyperactivity, Aggressive behavior, Happy demeanor, Broad-based gait OMIM:612313
Mucopolysaccharidosis, Type Iiia
Hyperactivity, Hearing impairment OMIM:252900
Citrullinemia Type Ii
Aggressive behavior, Tremor, Hyperactivity, Irritability, Lethargy ORPHA:247585
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Aggressive behavior, Shuffling gait, Macrotia, Hyperactivity, Low frustration tolerance, Protrudi... OMIM:300534
Trisomy 10P
Low voltage EEG, Abnormal auditory evoked potentials, Macrotia, Posteriorly rotated ears, EEG wit... ORPHA:171929
Pediatric-Onset Graves Disease
Mood swings, Hyperactivity, Irritability, Tremor ORPHA:525731
Early Infantile Epileptic Encephalopathy
Dystonia, Self-injurious behavior, Hypsarrhythmia, EEG with burst suppression, Hyperactivity, Tre... ORPHA:1934
47,Xyy Syndrome
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity ORPHA:8
Spastic Paraplegia 29, Autosomal Dominant
Sensorineural hearing impairment, Hyperactivity OMIM:609727
Intellectual Developmental Disorder, X-Linked 98
Self-biting, Aggressive behavior, Macrotia, Hypsarrhythmia, Hyperactivity, Ataxia, Anxiety OMIM:300912
Plaa-Associated Neurodevelopmental Disorder
Optic atrophy, Dystonia, Low-set, posteriorly rotated ears, Hypsarrhythmia, Exaggerated startle r... ORPHA:521426
Sandhoff Disease
Orthostatic hypotension, Ataxia, Exaggerated startle response OMIM:268800
X-Linked Cerebral Adrenoleukodystrophy
Gait disturbance, Dysmetria, Hearing impairment, Hyperactivity, Inability to walk, Ataxia, Diffic... ORPHA:139396
Hyperlysinemia
Opisthotonus, Dysmetria, Tremor, Hyperactivity, Hypoplasia of the antihelix, Tip-toe gait, EEG wi... ORPHA:2203
Histidinemia
Hyperactivity ORPHA:2157
Familial Gestational Hyperthyroidism
Hyperactivity, Hand tremor ORPHA:99819
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Dysmetria, Aggressive behavior, Hyperactivity, Ataxia, Unsteady gait, Protruding ear, Short ear OMIM:614756
Glycine Encephalopathy With Normal Serum Glycine
Long eyelashes, Exaggerated startle response OMIM:617301
Mucopolysaccharidosis, Type Iiic
Hyperactivity, Hearing impairment OMIM:252930
Purine Nucleoside Phosphorylase Deficiency
Sensorineural hearing impairment, Hyperactivity, Ataxia ORPHA:760
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity, Hand tremor ORPHA:424
White-Sutton Syndrome
Optic atrophy, Self-injurious behavior, Aggressive behavior, Posteriorly rotated ears, Sensorineu... ORPHA:468678
7Q11.23 Microduplication Syndrome
Large earlobe, Abnormal earlobe morphology, Self-injurious behavior, Dysmetria, Overfolded helix,... ORPHA:96121
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Torticollis, Isometric tremor, Hearing impairment, Irritability, Anxiety, Protruding ear, Intenti... OMIM:619475
Joubert Syndrome 1
Optic disc pallor, Aggressive behavior, Self-mutilation, Optic disc coloboma, Hyperactivity, Ataxia OMIM:213300
Brain-Lung-Thyroid Syndrome
Dystonia, Falls, Intention tremor, Sensorineural hearing impairment, Hyperactivity, Ataxia ORPHA:209905
Gm1 Gangliosidosis Type 1
Hirsutism, Exaggerated startle response ORPHA:79255
Argininemia
Hyperactivity, Spastic gait, Irritability OMIM:207800
Stankiewicz-Isidor Syndrome
Hyperactivity, Abnormality of the optic disc, Hearing impairment OMIM:617516
Mucopolysaccharidosis Type 3
Conductive hearing impairment, Optic atrophy, Gait disturbance, Loss of ambulation, Aggressive be... ORPHA:581
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Hirsutism, Exaggerated startle response OMIM:617527
Legius Syndrome
Dystonia, Vestibular Schwannoma, Hearing impairment, Hyperactivity, Attention deficit hyperactivi... ORPHA:137605
Hyperthyroidism, Nonautoimmune
Hyperactivity OMIM:609152
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hair-pulling, Hypsarrhythmia, Hyperactivity, Irritability, Protruding ear ORPHA:447997
Brooks-Wisniewski-Brown syndrome
Optic atrophy, Posteriorly rotated ears, Hyperactivity, EEG abnormality, Cupped ear, Protruding ear OMIM:300612
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response OMIM:253800
Hereditary Sensory And Autonomic Neuropathy Type 4
Orthostatic hypotension due to autonomic dysfunction, Self-mutilation, Abnormality of the autonom... ORPHA:642
Tuberous Sclerosis Complex
Self-injurious behavior, Aggressive behavior, Hyperactivity, Impulsivity, Anxiety, Attention defi... ORPHA:805
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Conductive hearing impairment, Abnormal fear/anxiety-related behavior, Agoraphobia, Self-injuriou... ORPHA:353281
Mucopolysaccharidosis Type 2
Conductive hearing impairment, Optic atrophy, Otosclerosis, Aggressive behavior, Decreased nerve ... ORPHA:580
Deafness, Autosomal Recessive 84B
Hearing impairment OMIM:614944
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Conductive hearing impairment, Abnormal fear/anxiety-related behavior, Agoraphobia, Self-injuriou... ORPHA:353277
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Conductive hearing impairment, Abnormal fear/anxiety-related behavior, Agoraphobia, Self-injuriou... ORPHA:353284
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Posteriorly rotated ears, Exaggerated startle response, Microtia, Small earlobe, Attention defici... OMIM:619522
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Dystonia, Optic disc pallor, Exaggerated startle response, Inability to walk, Broad-based gait ORPHA:438213

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 Otogl

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 Otogl.

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

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MGI Allele Allele Type Produced
Otoglem1(IMPC)J Exon Deletion Mice

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