Phenotypes Associated with This Genotype

Genotype
MGI:5582638

• Allelic Composition: m12Anu/m12Anu
• Genetic Background: Not Specified

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

hearing/vestibular/ear

hearing/vestibular/ear phenotype ( J:207337 )

N • mice exhibit normal vestibular function, middle ear morphology and stria vascularis

N • mice exhibit normal auditory brainstem response (ABR) threshold at 4 weeks and normal age-related ABR threshold increase

abnormal inner ear morphology ( J:207337 )

• progressive degeneration

decreased cochlear outer hair cell number ( J:207337 )

• at the basal turn

abnormal outer hair cell stereociliary bundle morphology ( J:207337 )

• non-uniform height

abnormal orientation of outer hair cell stereociliary bundles ( J:207337 )

• disorganized and disoriented

decreased outer hair cell stereocilia number ( J:207337 )

abnormal cochlear inner hair cell morphology ( J:207337 )

• outer hair cell like in appearance (U-shape, often splayed stereocilia and two rows of stereocilia bundles per cell)

cochlear outer hair cell degeneration ( J:207337 )

• at 14 weeks

absent tunnel of Corti ( J:207337 )

• at the basal level at 8 weeks that extends to the middle region with age

impaired hearing ( J:207337 )

• severe at 4 weeks, progressive

deafness ( J:207337 )

• profoundly deaf by 24 weeks

nervous system

decreased cochlear outer hair cell number ( J:207337 )

• at the basal turn

abnormal outer hair cell stereociliary bundle morphology ( J:207337 )

• non-uniform height

abnormal orientation of outer hair cell stereociliary bundles ( J:207337 )

• disorganized and disoriented

decreased outer hair cell stereocilia number ( J:207337 )

abnormal cochlear inner hair cell morphology ( J:207337 )

• outer hair cell like in appearance (U-shape, often splayed stereocilia and two rows of stereocilia bundles per cell)

cochlear outer hair cell degeneration ( J:207337 )

• at 14 weeks

cochlear ganglion degeneration ( J:207337 )

• in some places

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
nonsyndromic deafness		DOID:0050563		J:207337