Phenotypes Associated with This Genotype

Genotype
MGI:3623766

• Allelic Composition: Espn^je/Espn⁺
• Genetic Background: involves: fancier's dancing mouse

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

hearing/vestibular/ear

abnormal cochlear hair cell morphology ( J:1646 )

• hair cell pathology is present to varying degrees, sometimes scattered, and sometimes uniform along the entire organ of Corti

abnormal cochlear hair cell stereociliary bundle morphology ( J:1646 )

• at 12 months of age, stereocilia show loss of tonus, disarray, blunting and dispersion; the cuticular plate is sometimes split

abnormal inner hair cell stereociliary bundle morphology ( J:1646 )

• at 12 months of age, the stereocilia of the IHCs is frequently missing and replaecd with giant hair cells

cochlear hair cell degeneration ( J:1646 )

cochlear inner hair cell degeneration ( J:1646 )

• at 12 months of age, IHC loss is evely distributed along the organ of Corti

cochlear outer hair cell degeneration ( J:1646 )

• at 12 months of age, outer hair cell loss occurs more frequently at the upper part of the cochlea that elsewhere

increased or absent threshold for auditory brainstem response ( J:1646 )

• in Espn^je/+ mice ABR undergoes a progressive impairment with age, semiquantitatively correlated with pathology of the hair cells

nervous system

abnormal cochlear hair cell morphology ( J:1646 )

• hair cell pathology is present to varying degrees, sometimes scattered, and sometimes uniform along the entire organ of Corti

abnormal cochlear hair cell stereociliary bundle morphology ( J:1646 )

• at 12 months of age, stereocilia show loss of tonus, disarray, blunting and dispersion; the cuticular plate is sometimes split

abnormal inner hair cell stereociliary bundle morphology ( J:1646 )

• at 12 months of age, the stereocilia of the IHCs is frequently missing and replaecd with giant hair cells

cochlear hair cell degeneration ( J:1646 )

cochlear inner hair cell degeneration ( J:1646 )

• at 12 months of age, IHC loss is evely distributed along the organ of Corti

cochlear outer hair cell degeneration ( J:1646 )

• at 12 months of age, outer hair cell loss occurs more frequently at the upper part of the cochlea that elsewhere