Phenotypes Associated with This Genotype

Genotype
MGI:5897821

• Allelic Composition: Tprn^em1Pghu/Tprn^em1Pghu
• Genetic Background: B6.Cg-Tprn^em1Pghu

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

hearing/vestibular/ear

hearing/vestibular/ear phenotype ( J:240563 )

N • normal hair cell numbers along the cochlear length in the basal region

N • normal development of the inner and outer hair cells in the organ of Corti at P15

decreased inner hair cell stereocilia number ( J:240563 )

• at P15 and extensively P30

decreased outer hair cell stereocilia number ( J:240563 )

• at P15 and P30

cochlear inner hair cell degeneration ( J:240563 )

• beginning at P15 of steriocilia bundles on both the inner and outer hair cells with the loss in orientation and rigidity

cochlear outer hair cell degeneration ( J:240563 )

• beginning at P15 of steriocilia bundles on both the inner and outer hair cells with the loss in orientation and rigidity

increased or absent threshold for auditory brainstem response ( J:240563 )

• for click and tone burst stimuli at P15, P30 and P60

nonsyndromic hearing loss ( J:240563 )

• severe and progressive hearing loss

nervous system

decreased inner hair cell stereocilia number ( J:240563 )

• at P15 and extensively P30

decreased outer hair cell stereocilia number ( J:240563 )

• at P15 and P30

cochlear inner hair cell degeneration ( J:240563 )

• beginning at P15 of steriocilia bundles on both the inner and outer hair cells with the loss in orientation and rigidity

cochlear outer hair cell degeneration ( J:240563 )

• beginning at P15 of steriocilia bundles on both the inner and outer hair cells with the loss in orientation and rigidity

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autosomal recessive nonsyndromic deafness 79		DOID:0110526	OMIM:613307	J:240563