Phenotypes Associated with This Genotype

Genotype
MGI:8220064

• Allelic Composition: Pou4f3^tm1Wagq/Pou4f3⁺
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6J

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

hearing/vestibular/ear

hearing/vestibular/ear phenotype ( J:296699 )

N • rotarod tests indicate vestibular function is intact

abnormal cochlear inner hair cell morphology ( J:296699 )

• decreased mitochondrial density and mitochondrial vacuolization

fused inner hair cell stereocilia ( J:296699 )

• at 6 months of age stereociliary bundles are fused and elongated at both turns

abnormal cochlear outer hair cell morphology ( J:296699 )

• decreased mitochondrial density and mitochondrial vacuolization

decreased cochlear outer hair cell number ( J:296699 )

• some outer hair cells are missing at the 32 kHz region

• many OHCs are lost in the middle-basal turn and replaced with filled flat epithelium in mice at 6 months of age

decreased outer hair cell stereocilia number ( J:296699 )

• remaining OHCs appear to have fewer steriocilia bundles at 6 months of age

cochlear outer hair cell degeneration ( J:296699 )

• selective degeneration of outer but not inner hair cells at the 32 kHz region at 4-6 months of age

abnormal utricle morphology ( J:296699 )

• utricular sensory epithelia appears smaller compared to wild-type controls

abnormal auditory brainstem response waveform shape ( J:296699 )

• reduced peak 1 amplitudes at 32 kHz at 2 months of age

• at 3 and 7 months of age P1 amplitudes are significantly and progressively altered from high to low cochlear frequencies

increased or absent threshold for auditory brainstem response ( J:296699 )

• at 3 and 7 months of age ABR thresholds are significantly and progressively altered from high to low cochlear frequencies

increased or absent distortion product otoacoustic emission threshold ( J:296699 )

• at 3 and 7 months of age DPOAE thresholds are significantly and progressively altered from high to low cochlear frequencies

impaired hearing ( J:296699 )

• adult onset, progressive hearing loss starting with high frequencies

• Background Sensitivity: hearing loss is earlier compared to mice crossed onto an FVB/N background

• treatment with 4-diethylaminobenzaldehyde (an aldehyde dehydrogenase inhibitor) protected hearing function during the treatment period

cellular

abnormal mitochondrial morphology ( J:296699 )

• decreased mitochondrial density and mitochondrial vacuolization in cochlear inner and outer hair cells

nervous system

abnormal cochlear inner hair cell morphology ( J:296699 )

• decreased mitochondrial density and mitochondrial vacuolization

fused inner hair cell stereocilia ( J:296699 )

• at 6 months of age stereociliary bundles are fused and elongated at both turns

abnormal cochlear outer hair cell morphology ( J:296699 )

• decreased mitochondrial density and mitochondrial vacuolization

decreased cochlear outer hair cell number ( J:296699 )

• some outer hair cells are missing at the 32 kHz region

• many OHCs are lost in the middle-basal turn and replaced with filled flat epithelium in mice at 6 months of age

decreased outer hair cell stereocilia number ( J:296699 )

• remaining OHCs appear to have fewer steriocilia bundles at 6 months of age

cochlear outer hair cell degeneration ( J:296699 )

• selective degeneration of outer but not inner hair cells at the 32 kHz region at 4-6 months of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autosomal dominant nonsyndromic deafness 15		DOID:0110546	OMIM:602459	J:296699