Gene Summary

Name:
otoferlin
Synonyms:
N/A

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.

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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, Sensorineural hearing impairment, Absence of acoustic reflex 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 speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn... OMIM:609129
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex OMIM:601071
Deafness, Autosomal Recessive 104
Abnormal vestibular function, Prelingual sensorineural hearing impairment, Absent brainstem audit... OMIM:616515
Deafness, Autosomal Dominant 9
Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment... OMIM:601369
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials, Irr... OMIM:601382
Deafness, Autosomal Dominant 87
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II OMIM:620281
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... OMIM:616648
Schwannomatosis 1
Vestibular schwannoma, Peripheral schwannoma OMIM:162091
Arnold-Chiari Malformation Type I
Functional abnormality of the inner ear, Vertigo, Cranial nerve compression, Abnormality of the t... ORPHA:268882
Ravine Syndrome
Abnormal brainstem morphology, Abnormal auditory evoked potentials, Atrophy/Degeneration affectin... ORPHA:99852
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... ORPHA:320401
Non-Syndromic Genetic Deafness
Moderate hearing impairment, Low-frequency sensorineural hearing impairment, Conductive hearing i... ORPHA:87884
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Periph... OMIM:601596
Charcot-Marie-Tooth Disease, Recessive Intermediate B
Vestibular schwannoma, Decreased compound muscle action potential amplitude OMIM:613641
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Peripheral axonal neuropathy, Facial palsy, Sensorineural he... OMIM:617519
Abcd Syndrome
Total intestinal aganglionosis, Aganglionic megacolon, Abnormal auditory evoked potentials, Heari... OMIM:600501
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Abnormal vestibular function, Generalized dystonia, Tremor, ... ORPHA:52368
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials OMIM:125250
Otosclerosis 7
Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a... OMIM:611572
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Segmental peripheral demyelination/remyelination, Decreased ... OMIM:601455
Superficial Siderosis
Cerebellar atrophy, Vertigo, Abnormality of the vestibulocochlear nerve, Abnormality of the brach... ORPHA:247245
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Hypoplasia of the pons, Optic disc pallor, Cerebellar vermis hypoplasia, Abnormal auditory evoked... OMIM:617523
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Temporal op... ORPHA:1215
Hyperekplexia-Epilepsy Syndrome
EEG with temporal focal spikes, Exaggerated startle response ORPHA:163985
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Head titubation, Vestibular areflexia, Cerebellar hypoplasia... ORPHA:3240
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Adult-Onset Autosomal Dominant Leukodystrophy
Abnormal cerebellar peduncle morphology, Orthostatic hypotension, EEG with generalized slow activ... ORPHA:99027
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Exaggerated startle response, Optic atrophy OMIM:616881
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cerebellar atrophy, Optic disc pallor, Sensorineural hearing impairment, Abnormal auditory evoked... OMIM:619260
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, Abnormal medulla oblongata morphology, Abnormal m... ORPHA:206448
Benign Schwannoma
Facial palsy, Hearing abnormality, Vertigo, Schwannoma, Peripheral schwannoma, Abnormality of the... ORPHA:252164
Late-Infantile/Juvenile Krabbe Disease
Tremor, Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, EEG ... ORPHA:206443
Charcot-Marie-Tooth Disease Type 1F
Absent brainstem auditory responses, Optic nerve hypoplasia, Decreased nerve conduction velocity,... ORPHA:101085
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529808
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials ORPHA:529799
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic disc pallor, Exaggerated startle response, Optic atrophy OMIM:609541
Arthrogryposis, Distal, Type 2A
Cerebellar atrophy, Hypoplasia of the brainstem, Abnormal auditory evoked potentials, Hearing imp... OMIM:193700
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic disc pallor, Exaggerated startle response, Optic atrophy ORPHA:320406
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Torticollis, Aganglionic megacolon, Short-segment aganglioni... OMIM:609136
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response, Posteriorly rotated ears, Low-set ears OMIM:618598
Cerebrotendinous Xanthomatosis
Cerebellar atrophy, Resting tremor, Abnormal cerebellar peduncle morphology, Abnormal dentate nuc... ORPHA:909
Schwannomatosis, Vestibular
Bilateral vestibular schwannoma, Vertigo, Peripheral schwannoma, Occasional neurofibromas, Unilat... OMIM:101000
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Optic atroph... ORPHA:206436
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response, Hearing impairment OMIM:620114
Progressive Supranuclear Palsy
Tremor, Abnormal synaptic transmission, Blepharospasm, Dystonia ORPHA:683
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Exaggerated startle response, Macrotia, Optic nerve hypoplasia, EEG with generalized slow activity OMIM:617864
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... OMIM:608643
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Tremor, Optic atrophy, Macrotia, Abnormality of peripheral n... ORPHA:90321
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Mogs-Cdg
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Dystonia ORPHA:79330
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Exaggerated startle response, Hearing impairment OMIM:620327
Trisomy 10P
Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Abnorm... ORPHA:171929
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia ORPHA:309246
Cockayne Syndrome A
Cerebellar atrophy, Abnormal pinna morphology, Abnormal peripheral myelination, Abnormal auditory... OMIM:216400
Cockayne Syndrome B
Abnormal pinna morphology, Cerebellar calcifications, Abnormal auditory evoked potentials, Abnorm... OMIM:133540
Developmental And Epileptic Encephalopathy 49
EEG abnormality, Exaggerated startle response, Macrotia, Optic atrophy OMIM:617281
Asparagine Synthetase Deficiency
Exaggerated startle response, Optic nerve hypoplasia, Tremor, EEG with burst suppression, Hypsarr... OMIM:615574
Stiff-Person Syndrome
Exaggerated startle response, Opisthotonus OMIM:184850
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
External ear malformation, Exaggerated startle response, Dystonia ORPHA:438216
Plaa-Associated Neurodevelopmental Disorder
Low-set, posteriorly rotated ears, Exaggerated startle response, Sensorineural hearing impairment... ORPHA:521426
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Tremor, Exaggerated startle response, Truncal titubation OMIM:618056
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response, Optic atrophy, Low-set ears OMIM:617301
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Tay-Sachs Disease
Exaggerated startle response, Tremor, Optic atrophy, Dystonia, Laryngeal dystonia, Hearing impair... ORPHA:845
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Dystonia OMIM:272750
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Low-set ears, Dystonia, Macrotia, Hearing impairment ORPHA:79255
Sandhoff Disease
Orthostatic hypotension, Exaggerated startle response OMIM:268800
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Sandhoff Disease, Infantile Form
Exaggerated startle response ORPHA:309155
Mend Syndrome
Abnormal auditory evoked potentials, Dandy-Walker malformation, Low-set ears ORPHA:401973
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Posteriorly rotated ears, Exaggerated startle response, Optic atrophy, Low-set ears OMIM:617527
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response, Optic atrophy OMIM:253800
Legius Syndrome
Neurofibroma, Chiari type I malformation, Vestibular schwannoma, Dystonia, Hearing impairment ORPHA:137605
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response, EEG with generalized slow activity OMIM:618367
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response, Posteriorly rotated ears, Microtia, Low-set ears, Small earlobe OMIM:619522
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Optic disc pallor, Exaggerated startle response, Dystonia 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 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

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
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)Cnrm Point Mutation Mice
Otofem1(IMPC)Wtsi Point Mutation Mice
Otoftm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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