Phenotypes Associated with This Genotype

Genotype
MGI:3760289

• Allelic Composition: Otof^deaf5Jcs/Otof^deaf5Jcs
• Genetic Background: STOCK Otof^deaf5Jcs/Kjn

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

hearing/vestibular/ear

hearing/vestibular/ear phenotype ( J:125960 )

N • vestibular-evoked potential is normal and movement, righting responses, and swim tests are normal indicating normal vestibular function

abnormal hearing electrophysiology ( J:269136 )

• bushy cells from homozygotes fire action potentials to less steeply rising depolarizations than in unaffected controls, miniature excitatory postsynaptic currents are larger and carry more charge than in unaffected controls

increased or absent threshold for auditory brainstem response ( J:125960 , J:269136 )

• ABR could not be detected in homozygotes at 4 weeks of age (J:125960)

deafness ( J:100332 , J:125960 )

nervous system

decreased cochlear VIII nucleus size ( J:269136 )

• the ventral cochlear nuclei are significantly smaller than normal, volumes reduced by 46%, and that of the dorsal cochlear nuclei did not reach significance

abnormal cochlear nerve morphology ( J:269136 )

• the auditory nerve is reduced by an average of 54%, the end bulbs of Held and the axons to them are smaller than normal, there are fewer end bulbs and they are thinner and more wispy with fewer branches per end than normal

abnormal synaptic transmission ( J:269136 )

• distortion product acoustic emissions are normal, but auditory brainstem responses are not, consistent with failed synaptic transmission between cochlear hair cells and spiral ganglion cells

abnormal paired-pulse facilitation ( J:269136 )

behavior/neurological

absent pinna reflex ( J:125960 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autosomal recessive nonsyndromic deafness 9		DOID:0110535	OMIM:601071	J:125960