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Gene: Otof MGI:1891247

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Gene Summary

Name:
otoferlin
Synonyms:
N/A

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IMPC Data Collections

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.

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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 Otof 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 Otof by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Absence of acoustic reflex, Sensorineural hearing impairment OMIM:601071

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Absence of acoustic reflex, Abnormal speech discrimination, ... OMIM:609129
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Absence of acoustic reflex, Sensorineural hearing impairment OMIM:601071
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Abnormal vestibular function, Prelingual sensorineural heari... OMIM:616515
Epilepsy, Familial Adult Myoclonic, 1
EEG with irregular generalized spike and wave complexes, Jerk-locked premyoclonus spikes, Giant s... OMIM:601068
Deafness, Autosomal Dominant 9
Cochlear degeneration, Vertigo, Abnormality of the vestibulocochlear nerve, Tinnitus, Postlingual... OMIM:601369
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Irregular myelin ... OMIM:601382
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... OMIM:616648
Deafness, Autosomal Dominant 87
Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Hearing impairment OMIM:620281
Schwannomatosis 1
Vestibular schwannoma, Peripheral schwannoma OMIM:162091
Arnold-Chiari Malformation Type I
Functional abnormality of the inner ear, Brain stem compression, Cranial nerve compression, Verti... ORPHA:268882
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso... ORPHA:320401
Ravine Syndrome
Abnormal brainstem morphology, Abnormal auditory evoked potentials, Atrophy/Degeneration affectin... ORPHA:99852
Non-Syndromic Genetic Deafness
Prelingual sensorineural hearing impairment, Conductive hearing impairment, Progressive sensorine... ORPHA:87884
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... OMIM:601596
Charcot-Marie-Tooth Disease, Recessive Intermediate B
Decreased compound muscle action potential amplitude, Vestibular schwannoma OMIM:613641
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... OMIM:125250
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Motor axonal neuropathy, Sensorineural hearing impairment, Peripheral axonal neuropathy, Absent b... OMIM:617519
Mohr-Tranebjaerg Syndrome
Optic atrophy, Abnormal vestibular function, Prelingual sensorineural hearing impairment, General... ORPHA:52368
Leukodystrophy, Hypomyelinating, 5
Truncal titubation, Delayed brainstem auditory evoked response conduction time, Decreased motor n... OMIM:610532
Abcd Syndrome
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Heari... OMIM:600501
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Sen... OMIM:601455
Otosclerosis 7
Otosclerosis, Conductive hearing impairment, Hearing impairment, Progressive hearing impairment, ... OMIM:611572
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Cerebellar vermis hypoplasia, Abnormal auditory evoked potentials, Hypoplasia of the pons, Optic ... OMIM:617523
Superficial Siderosis
Cerebellar atrophy, Vertigo, Abnormality of the vestibulocochlear nerve, Abnormality of the brach... ORPHA:247245
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Motor axonal neuropathy, Sensorineural hearing impairment, Absent brainstem audito... ORPHA:1215
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Hyperekplexia-Epilepsy Syndrome
EEG with temporal focal spikes, Exaggerated startle response ORPHA:163985
Otosclerosis 8
Otosclerosis, Hearing impairment OMIM:612096
Otosclerosis 3
Otosclerosis, Hearing impairment OMIM:608244
Benign Schwannoma
Peripheral schwannoma, Vertigo, Schwannoma, Vestibular schwannoma, Abnormal cranial nerve morphol... ORPHA:252164
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Cerebellar hypoplasia, Absent brainstem auditory responses, Head titubation, Vestibular areflexia ORPHA:3240
Adult Krabbe Disease
Abnormal midbrain morphology, Delayed brainstem auditory evoked response conduction time, Abnorma... ORPHA:206448
Leukodystrophy, Hypomyelinating, 13
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Exaggerated startle re... OMIM:616881
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Abnormal auditory evoked potentials, Cerebellar atrophy, Sensorineural hearing... OMIM:619260
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Adult-Onset Autosomal Dominant Leukodystrophy
Upper limb postural tremor, Abnormal auditory evoked potentials, Abnormality of somatosensory evo... ORPHA:99027
Late-Infantile/Juvenile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ... ORPHA:206443
Charcot-Marie-Tooth Disease Type 1F
Hand tremor, Decreased nerve conduction velocity, Head tremor, Sensorineural hearing impairment, ... ORPHA:101085
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529799
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic disc pallor, Optic atrophy, Exaggerated startle response OMIM:609541
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Optic disc pallor, Exaggerated startle response ORPHA:320406
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Cerebellar atrophy, Hearing impairment, Hypoplasia of the br... OMIM:193700
Cerebrotendinous Xanthomatosis
Optic atrophy, Abnormal auditory evoked potentials, Cerebellar atrophy, Resting tremor, Abnormal ... ORPHA:909
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hearing impairment, Decreased nerve conduction velocity, Peripheral demyelination, Short-segment ... OMIM:609136
Infantile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Hearing impairment, De... ORPHA:206436
Spastic Tetraplegia And Axial Hypotonia, Progressive
Low-set ears, Posteriorly rotated ears, Exaggerated startle response OMIM:618598
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Hearing impairment, Exaggerated startle response OMIM:620114
Progressive Supranuclear Palsy
Blepharospasm, Vertigo, Tremor, Dystonia, Abnormal synaptic transmission ORPHA:683
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Exaggerated startle response, EEG with generalized slow activity, Macrotia, Optic nerve hypoplasia OMIM:617864
Mogs-Cdg
Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Dystonia, A... ORPHA:79330
Cockayne Syndrome Type 1
Optic atrophy, Hearing impairment, Abnormality of peripheral nerve conduction, Tremor, Absent bra... ORPHA:90321
Aromatic L-Amino Acid Decarboxylase Deficiency
Blepharospasm, Oculogyric crisis, Limb dystonia, Limb tremor, Torticollis, Exaggerated startle re... OMIM:608643
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Cockayne Syndrome A
Optic atrophy, Abnormal auditory evoked potentials, Cerebellar atrophy, Peripheral dysmyelination... OMIM:216400
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Cockayne Syndrome B
Optic atrophy, Abnormal auditory evoked potentials, Peripheral dysmyelination, Decreased nerve co... OMIM:133540
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Hearing impairment, Tremor, Exaggerated startle response OMIM:620327
Schwannomatosis, Vestibular
Neurofibroma, Bilateral vestibular schwannoma, Peripheral schwannoma, Hearing impairment, Vertigo... OMIM:101000
Trisomy 10P
Low-set ears, Abnormal auditory evoked potentials, EEG with burst suppression, Abnormality of the... ORPHA:171929
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Gm2 Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response ORPHA:309246
Developmental And Epileptic Encephalopathy 49
Optic atrophy, EEG abnormality, Macrotia, Exaggerated startle response OMIM:617281
Stiff-Person Syndrome
Opisthotonus, Exaggerated startle response OMIM:184850
Asparagine Synthetase Deficiency
EEG with burst suppression, Tremor, Simple ear, Hypsarrhythmia, Exaggerated startle response, Mac... OMIM:615574
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Abnormal pinna morphology, Exaggerated startle response ORPHA:438216
Plaa-Associated Neurodevelopmental Disorder
Optic atrophy, Low-set, posteriorly rotated ears, Sensorineural hearing impairment, Hypsarrhythmi... ORPHA:521426
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Tremor, Exaggerated startle response OMIM:618056
Glycine Encephalopathy With Normal Serum Glycine
Low-set ears, Optic atrophy, Exaggerated startle response OMIM:617301
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Full Nf2-Related Schwannomatosis
Brain stem compression, Peripheral schwannoma, Bilateral vestibular schwannoma, Neuroma, Abnormal... ORPHA:637
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Tay-Sachs Disease
Optic atrophy, Hearing impairment, Laryngeal dystonia, Tremor, Exaggerated startle response, Dyst... ORPHA:845
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response OMIM:272750
Legius Syndrome
Chiari type I malformation, Dystonia, Vestibular schwannoma, Hearing impairment ORPHA:137605
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Sandhoff Disease
Orthostatic hypotension, Exaggerated startle response OMIM:268800
Sandhoff Disease, Infantile Form
Exaggerated startle response ORPHA:309155
Gm1 Gangliosidosis Type 1
Low-set ears, Hearing impairment, Macrotia, Exaggerated startle response ORPHA:79255
Combined Oxidative Phosphorylation Deficiency 58
Low-set ears, Optic atrophy, Exaggerated startle response OMIM:620451
Mend Syndrome
Low-set ears, Abnormal auditory evoked potentials, Dandy-Walker malformation ORPHA:401973
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Low-set ears, Optic atrophy, Posteriorly rotated ears, Exaggerated startle response OMIM:617527
Multiple Mitochondrial Dysfunctions Syndrome 7
EEG with burst suppression, Dystonia, Hypsarrhythmia, Exaggerated startle response OMIM:620423
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Optic atrophy, Exaggerated startle response OMIM:253800
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
EEG with generalized slow activity, Exaggerated startle response OMIM:618367
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Optic disc pallor, Dystonia, Exaggerated startle response ORPHA:438213
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Low-set ears, Exaggerated startle response, Posteriorly rotated ears, Small earlobe, Microtia OMIM:619522

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 Otof

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 Otof.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Apoptosis of type I spiral ganglion neuron cells in Otof-mutant mice. Neuroscience letters (March 2023) Otoftm1a(KOMP)Wtsi 36914046
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Otofem1(IMPC)Wtsi PMC7263671

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MGI Allele Allele Type Produced
Otoftm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Otoftm44925(L1L2_gt0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Otofem1(IMPC)Wtsi Point Mutation Mice
Otofem1(IMPC)Cnrm Point Mutation Mice
Otoftm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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