Phenotypes Associated with This Genotype

Genotype
MGI:3693849

• Allelic Composition: Otof^tm1Ugds/Otof^tm1Ugds
• Genetic Background: involves: 129S2/SvPas * C57BL/6

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

hearing/vestibular/ear

hearing/vestibular/ear phenotype ( J:116097 )

N • outer hair cells (OHC) and afferent auditory pathway (auditory nerve) are functional in adults

abnormal cochlear inner hair cell morphology ( J:116097 )

• structurally abnormal ribbon synapse postsynaptic contacts are observed at P15

abnormal inner hair cell synaptic ribbon morphology ( J:116097 )

• inner hair cells (IHC) of mutants have ~50-60% of normal number of ribbon synapses at P15

abnormal cochlear inner hair cell physiology ( J:116097 )

• depolarization-induced exocytosis of immature (P6) and mature (P15) inner hair cells (IHC) is almost completely abolished in mutants; exocytosis of readily releasable pool (RRP) and sustained secretion of neurotransmitter are both affected

• IHCs lack the fast component of the exocytotic burst even at high calcium concentrations, and slow component is maintained at a smaller amplitude than in wild-type

increased or absent threshold for auditory brainstem response ( J:116097 )

• mutants analyzed from 3 weeks of age onward show no visible auditory brainstem responses (ABRs) to any intensity of click or tone stimulation

deafness ( J:116097 )

• profoundly deaf

nervous system

abnormal cochlear inner hair cell morphology ( J:116097 )

• structurally abnormal ribbon synapse postsynaptic contacts are observed at P15

abnormal inner hair cell synaptic ribbon morphology ( J:116097 )

• inner hair cells (IHC) of mutants have ~50-60% of normal number of ribbon synapses at P15

abnormal cochlear inner hair cell physiology ( J:116097 )

• depolarization-induced exocytosis of immature (P6) and mature (P15) inner hair cells (IHC) is almost completely abolished in mutants; exocytosis of readily releasable pool (RRP) and sustained secretion of neurotransmitter are both affected

• IHCs lack the fast component of the exocytotic burst even at high calcium concentrations, and slow component is maintained at a smaller amplitude than in wild-type

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autosomal recessive nonsyndromic deafness 9		DOID:0110535	OMIM:601071	J:116097