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.

Select physiological systems to view:
Viewing: all phenotypes
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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.

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
Sensorineural hearing impairment, Absent brainstem auditory responses, 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
Sensorineural hearing impairment, Absence of acoustic reflex, Abnormal auditory evoked potentials... OMIM:609129
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses, Absence of acoustic reflex OMIM:601071
Deafness, Autosomal Dominant 9
Cochlear degeneration, Vertigo, Tinnitus, Postlingual sensorineural hearing impairment, Abnormali... OMIM:601369
Deafness, X-Linked 6
Cochlear malformation, Hearing impairment OMIM:300914
Abcd Syndrome
Abnormal auditory evoked potentials, Aganglionic megacolon, Hearing impairment OMIM:600501
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Ravine Syndrome
Abnormal brainstem morphology, Atrophy/Degeneration affecting the brainstem, Abnormal auditory ev... ORPHA:99852
Arnold-Chiari Malformation Type I
Functional abnormality of the inner ear, Cranial nerve compression, Vertigo, Adult onset sensorin... ORPHA:268882
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Prolonged s... OMIM:616648
Charcot-Marie-Tooth Disease, Recessive Intermediate B
Vestibular Schwannoma OMIM:613641
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Abnormal cranial nerve... OMIM:601596
Charcot-Marie-Tooth Disease, Type 4D
Onion bulb formation, Axonal loss, Abnormal auditory evoked potentials, Decreased nerve conductio... OMIM:601455
Non-Syndromic Genetic Deafness
Conductive hearing impairment, Moderate hearing impairment, High-frequency hearing impairment, Ch... ORPHA:87884
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Abnormality of somatosenso... ORPHA:320401
Deafness, Autosomal Dominant 41
Tinnitus, Progressive sensorineural hearing impairment, Hearing impairment OMIM:608224
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Peripheral axonal neuropathy, Facial palsy, Absent brainstem auditory responses, Sensorineural he... OMIM:617519
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment OMIM:125250
Otosclerosis 7
Progressive hearing impairment, Conductive hearing impairment, Otosclerosis, Abnormality of the a... OMIM:611572
Superficial Siderosis
Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Vertigo, Bilateral sensorineura... ORPHA:247245
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia
Sensorineural hearing impairment, Unilateral vestibular Schwannoma OMIM:603641
Mohr-Tranebjaerg Syndrome
Optic atrophy, Abnormality of somatosensory evoked potentials, Absent brainstem auditory response... ORPHA:52368
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Temporal optic disc pallor, Motor axonal neuropathy, Absent brainstem auditory res... ORPHA:1215
Otosclerosis 8
Otosclerosis, Hearing impairment OMIM:612096
Otosclerosis 3
Otosclerosis, Hearing impairment OMIM:608244
Acrocraniofacial Dysostosis
Sensorineural hearing impairment, Conductive hearing impairment, Abnormality of the outer ear, Ab... OMIM:201050
Hyperekplexia-Epilepsy Syndrome
EEG with temporal focal spikes, Exaggerated startle response ORPHA:163985
Benign Schwannoma
Abnormal cranial nerve morphology, Vestibular Schwannoma, Facial palsy, Peripheral Schwannoma, Ab... ORPHA:252164
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Head titubation, Absent brainstem auditory responses, Vestibular areflexia, Cerebellar hypoplasia ORPHA:3240
Adult Krabbe Disease
Abnormal midbrain morphology, Abnormality of the medulla oblongata, Abnormal pons morphology, Per... ORPHA:206448
Hyperekplexia 3
Exaggerated startle response OMIM:614618
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 auditory evoked potentials, Abnormality of somatosensory evoked potentials, Head titubat... ORPHA:99027
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Abnormal auditory evoked potentials, Optic disc pallor, Cerebellar atrophy, Sensorineural hearing... OMIM:619260
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic atrophy, Optic disc pallor, Exaggerated startle response OMIM:609541
Late-Infantile/Juvenile Krabbe Disease
Tremor, EEG with persistent abnormal rhythmic activity, Decreased nerve conduction velocity, Prol... ORPHA:206443
Charcot-Marie-Tooth Disease Type 1F
Decreased number of large peripheral myelinated nerve fibers, Hand tremor, Optic nerve hypoplasia... 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
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Peripheral demyelination, Absent brainstem auditory responses, Decreased nerve conduction velocit... OMIM:609136
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hypoplasia of the brainstem, Cerebellar atrophy, Hearing imp... OMIM:193700
Neurofibromatosis, Type Ii
Tinnitus, Vertigo, Peripheral Schwannoma, Hearing impairment, Bilateral vestibular Schwannoma, Oc... OMIM:101000
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Optic disc pallor, Exaggerated startle response ORPHA:320406
Spastic Tetraplegia And Axial Hypotonia, Progressive
Low-set, posteriorly rotated ears, Exaggerated startle response OMIM:618598
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Cerebrotendinous Xanthomatosis
Optic atrophy, Optic neuropathy, Optic disc pallor, Cerebellar atrophy, Abnormal auditory evoked ... ORPHA:909
Infantile Krabbe Disease
Optic atrophy, Opisthotonus, Decreased nerve conduction velocity, Hearing impairment, Prolonged b... ORPHA:206436
Cockayne Syndrome Type 1
Optic atrophy, Absent brainstem auditory responses, Macrotia, Hearing impairment, Tremor, Abnorma... ORPHA:90321
Asparagine Synthetase Deficiency
Exaggerated startle response, Macrotia, Hypsarrhythmia OMIM:615574
Trisomy 10P
Abnormal auditory evoked potentials, Low voltage EEG, Macrotia, Posteriorly rotated ears, Simplif... ORPHA:171929
Cockayne Syndrome B
Peripheral dysmyelination, Optic atrophy, Abnormal peripheral myelination, Abnormal auditory evok... OMIM:133540
Cockayne Syndrome A
Peripheral dysmyelination, Optic atrophy, Abnormal peripheral myelination, Abnormal auditory evok... OMIM:216400
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Progressive Supranuclear Palsy
Tremor, Abnormal synaptic transmission ORPHA:683
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Mogs-Cdg
Sensorineural hearing impairment, Optic atrophy, Absent brainstem auditory responses ORPHA:79330
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Glycine Encephalopathy With Normal Serum Glycine
Optic atrophy, Exaggerated startle response, Low-set ears OMIM:617301
Stiff-Person Syndrome
Opisthotonus, Exaggerated startle response OMIM:184850
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response ORPHA:309246
Plaa-Associated Neurodevelopmental Disorder
Optic atrophy, Low-set, posteriorly rotated ears, Hypsarrhythmia, Exaggerated startle response, S... ORPHA:521426
Mend Syndrome
Dandy-Walker malformation, Low-set ears, Abnormal auditory evoked potentials ORPHA:401973
Sandhoff Disease
Orthostatic hypotension, Exaggerated startle response OMIM:268800
Gm1 Gangliosidosis Type 1
Low-set ears, Macrotia, Exaggerated startle response, Hearing impairment ORPHA:79255
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response OMIM:272750
Legius Syndrome
Vestibular Schwannoma, Chiari type I malformation, Hearing impairment ORPHA:137605
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Exaggerated startle response, External ear malformation ORPHA:438216
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Optic atrophy, Posteriorly rotated ears, Low-set ears OMIM:617527
Tay-Sachs Disease
Tremor, Optic atrophy, Exaggerated startle response, Hearing impairment ORPHA:845
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Optic atrophy, Exaggerated startle response OMIM:253800
Aromatic L-Amino Acid Decarboxylase Deficiency
Limb tremor, Exaggerated startle response OMIM:608643
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Posteriorly rotated ears, Exaggerated startle response, Microtia, Small earlobe, Low-set ears OMIM:619522
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Optic disc pallor, Exaggerated startle response 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 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
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

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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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