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Symbol
Name
ID
Otof
otoferlin
MGI:1891247
Phenotype annotations related to nervous system
*Aspects of the system are reported to show a normal phenotype.
Darker colors indicate more annotations
Human Phenotypes
Absent brainstem auditory responses
Disease(s) Associated with OTOF
autosomal recessive nonsyndromic deafness 9

Mouse Phenotypes
nervous system phenotype
abnormal cochlear hair cell stereociliary bundle morphology
abnormal cochlear inner hair cell morphology
abnormal inner hair cell synaptic ribbon morphology
abnormal cochlear inner hair cell physiology
decreased cochlear VIII nucleus size
abnormal cochlear nerve morphology
abnormal synaptic transmission
abnormal miniature excitatory postsynaptic currents
abnormal paired-pulse facilitation
Availability Mouse Genotype
Otofdeaf5Jcs/Otofdeaf5Jcs
Otofpga/Otofpga
Otoftm1.1Erei/Otoftm1.1Erei *
Otoftm1Ugds/Otoftm1Ugds

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
04/30/2024
MGI 6.23
The Jackson Laboratory